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    SMAD3 SMAD family member 3 [ Homo sapiens (human) ]

    Gene ID: 4088, updated on 12-Apr-2024

    Summary

    Official Symbol
    SMAD3provided by HGNC
    Official Full Name
    SMAD family member 3provided by HGNC
    Primary source
    HGNC:HGNC:6769
    See related
    Ensembl:ENSG00000166949 MIM:603109; AllianceGenome:HGNC:6769
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LDS3; mad3; LDS1C; MADH3; JV15-2; hMAD-3; hSMAD3; HSPC193; HsT17436
    Summary
    The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 13.6), ovary (RPKM 13.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMAD3 in Genome Data Viewer
    Location:
    15q22.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (67065602..67195169)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (64885345..65017070)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (67357940..67487507)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9309 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:67248284-67249483 Neighboring gene SMAD3 associated long non-coding RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr15:67287649-67287867 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:67300958-67301136 Neighboring gene SMAD3 divergent transcript Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40591 Neighboring gene Sharpr-MPRA regulatory region 4683 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67322513-67323169 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 47 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67325333-67325940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67325941-67326548 Neighboring gene HNF4 motif-containing MPRA enhancer 189 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:67356188-67356958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:67358498-67359266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67381826-67382343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67382344-67382860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67386222-67386992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67390571-67391072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67398175-67398874 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:67399127-67400326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67412437-67413294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9624 Neighboring gene FOXA motif-containing MPRA enhancer 105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67438421-67439356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67439357-67440291 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67440670-67441477 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:67442285-67443092 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40600 Neighboring gene SMAD3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67459191-67459860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67460533-67461202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67459861-67460532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9628 Neighboring gene alpha and gamma adaptin binding protein Neighboring gene ribosomal protein S24 pseudogene 16 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:67569773-67569933 Neighboring gene IQ motif containing H Neighboring gene VISTA enhancer hs358 Neighboring gene Sharpr-MPRA regulatory region 12968 Neighboring gene IQCH antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13361 Neighboring gene uncharacterized LOC124903511

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SMAD3 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-04-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.
    EBI GWAS Catalog
    A large-scale, consortium-based genomewide association study of asthma.
    EBI GWAS Catalog
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Genomewide association analysis of coronary artery disease.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat-treated pulmonary arterial smooth muscle cells downregulate levels of phosphorylated SMAD2/3 proteins and SMAD2/3-SMAD4 protein complex, which are repressed by cocaine exposure PubMed
    tat HIV-1 Tat enhances binding of SMAD2, -3 and -4 and their binding partner Fast1 to the JCV DNA control region (CR) to stimulate JCV gene transcription in living cells PubMed
    tat The C-terminal MH2 domain of Smad3 can decrease the levels of HIV-1 Tat-induced activation of MCP-1 in astrocytic cells PubMed
    tat Smad-3 stimulates HIV-1 Tat mediated transcription from the HIV-1 LTR promoter and the MCP promoter through a direct association with Tat amino acids 1-40 PubMed
    Vpr vpr HIV-1 Vpr impairs NK cell function through cytokine dysregulation, including diminshed expression of CD107a, reduced production of IFN-gamma, differential regulation of IL-12 and TGF-beta, and activation of the Smad3 signalling pathway PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC60396, DKFZp586N0721, DKFZp686J10186

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DEAD/H-box RNA helicase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    contributes_to DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA-binding transcription repressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables I-SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables bHLH transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cis-regulatory region sequence-specific DNA binding IC
    Inferred by Curator
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables co-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables collagen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear glucocorticoid receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear mineralocorticoid receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sterol response element binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription coactivator binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in JNK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in SMAD protein signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in T cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activin receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in adrenal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immune system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens fiber cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of lung blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of miRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nodal signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in paraxial mesoderm morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pericardium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of extracellular matrix assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of extracellular matrix assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of focal adhesion assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of miRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of miRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of positive chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein import into nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta3 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in primary miRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein stabilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of miRNA transcription IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transforming growth factor beta2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of response to angiotensin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction involved in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transdifferentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SMAD protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of heteromeric SMAD protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of heteromeric SMAD protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of heteromeric SMAD protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 3
    Names
    MAD homolog 3
    MAD, mothers against decapentaplegic homolog 3
    SMA- and MAD-related protein 3
    SMAD, mothers against DPP homolog 3
    mad homolog JV15-2
    mad protein homolog
    mothers against DPP homolog 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011990.2 RefSeqGene

      Range
      5002..134569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145102.2NP_001138574.1  mothers against decapentaplegic homolog 3 isoform 2

      See identical proteins and their annotated locations for NP_001138574.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC012568
      Consensus CDS
      CCDS53950.1
      UniProtKB/TrEMBL
      Q59F45
      Related
      ENSP00000437757.2, ENST00000540846.6
      Conserved Domains (2) summary
      cd10985
      Location:119309
      MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
      cl00055
      Location:127
      MH1; N-terminal Mad Homology 1 (MH1) domain
    2. NM_001145103.2NP_001138575.1  mothers against decapentaplegic homolog 3 isoform 3

      See identical proteins and their annotated locations for NP_001138575.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC012568
      Consensus CDS
      CCDS45288.1
      UniProtKB/TrEMBL
      Q59F45
      Related
      ENSP00000401133.3, ENST00000439724.7
      Conserved Domains (2) summary
      cd10985
      Location:180370
      MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
      cl00055
      Location:2588
      MH1; N-terminal Mad Homology 1 (MH1) domain
    3. NM_001145104.2NP_001138576.1  mothers against decapentaplegic homolog 3 isoform 4

      See identical proteins and their annotated locations for NP_001138576.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC012568
      Consensus CDS
      CCDS53951.1
      UniProtKB/TrEMBL
      B7Z725
      Related
      ENSP00000445348.2, ENST00000537194.6
      Conserved Domains (1) summary
      cd10985
      Location:29219
      MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
    4. NM_001407011.1NP_001393940.1  mothers against decapentaplegic homolog 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC012568, AC087482
      UniProtKB/TrEMBL
      H3BQ00
      Related
      ENSP00000455540.2, ENST00000560424.2
    5. NM_001407012.1NP_001393941.1  mothers against decapentaplegic homolog 3 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC012568, AC087482
    6. NM_001407013.1NP_001393942.1  mothers against decapentaplegic homolog 3 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC012568, AC087482
    7. NM_001407014.1NP_001393943.1  mothers against decapentaplegic homolog 3 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC012568, AC087482
    8. NM_001407015.1NP_001393944.1  mothers against decapentaplegic homolog 3 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC012568
    9. NM_001407016.1NP_001393945.1  mothers against decapentaplegic homolog 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012568
      Related
      ENSP00000453684.2, ENST00000558739.2
    10. NM_001407017.1NP_001393946.1  mothers against decapentaplegic homolog 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012568
      Related
      ENSP00000452767.2, ENST00000558827.2
    11. NM_005902.4NP_005893.1  mothers against decapentaplegic homolog 3 isoform 1

      See identical proteins and their annotated locations for NP_005893.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC012568, AC087482
      Consensus CDS
      CCDS10222.1
      UniProtKB/Swiss-Prot
      A8K4B6, B7Z4Z5, B7Z6M9, B7Z9Q2, F5H383, O09064, O09144, O14510, O35273, P84022, Q92940, Q93002, Q9GKR4
      UniProtKB/TrEMBL
      Q59F45
      Related
      ENSP00000332973.4, ENST00000327367.9
      Conserved Domains (2) summary
      cd10491
      Location:8132
      MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
      cd10985
      Location:224414
      MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      67065602..67195169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      64885345..65017070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377915.1XP_054233890.1  mothers against decapentaplegic homolog 3 isoform X2

    2. XM_054377914.1XP_054233889.1  mothers against decapentaplegic homolog 3 isoform X1