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

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: mouse all
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Genomic context

Location:: 15q22.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (67065602..67195169)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (64885345..65017070)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (67357940..67487507)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZNF8 Orchestrates with Smad3 to Promote Lung Metastasis by Recruiting SMYD3 in Breast Cancer.
Title: ZNF8 Orchestrates with Smad3 to Promote Lung Metastasis by Recruiting SMYD3 in Breast Cancer.
Connexin 43 controls metastatic behavior in triple negative breast cancer through TGFbeta1-Smad3-intergin alphaV signaling axis Based on optical image diagnosis.
Title: Connexin 43 controls metastatic behavior in triple negative breast cancer through TGFβ1-Smad3-intergin αV signaling axis Based on optical image diagnosis.
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
Title: Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
SMAD3 mediates the specification of human induced pluripotent stem cell-derived epicardium into progenitors for the cardiac pericyte lineage.
Title: SMAD3 mediates the specification of human induced pluripotent stem cell-derived epicardium into progenitors for the cardiac pericyte lineage.
Zinc-Alpha-2-Glycoprotein Peptide Downregulates Type I and III Collagen Expression via Suppression of TGF-beta and p-Smad 2/3 Pathway in Keloid Fibroblasts and Rat Incisional Model.
Title: Zinc-Alpha-2-Glycoprotein Peptide Downregulates Type I and III Collagen Expression via Suppression of TGF-β and p-Smad 2/3 Pathway in Keloid Fibroblasts and Rat Incisional Model.
SIRT3 sulfhydration using hydrogen sulfide inhibited angiotensin II-induced atrial fibrosis and vulnerability to atrial fibrillation via suppression of the TGF-beta1/smad2/3 signalling pathway.
Title: SIRT3 sulfhydration using hydrogen sulfide inhibited angiotensin II-induced atrial fibrosis and vulnerability to atrial fibrillation via suppression of the TGF-β1/smad2/3 signalling pathway.
CTRP6 alleviates endometrial fibrosis by regulating Smad3 pathway in intrauterine adhesiondagger.
Title: CTRP6 alleviates endometrial fibrosis by regulating Smad3 pathway in intrauterine adhesion†.
Superoxide dismutase 2 scavenges ROS to promote osteogenic differentiation of human periodontal ligament stem cells by regulating Smad3 in alveolar bone-defective rats.
Title: Superoxide dismutase 2 scavenges ROS to promote osteogenic differentiation of human periodontal ligament stem cells by regulating Smad3 in alveolar bone-defective rats.
Exosomes derived from adipose tissue-derived stem cells alleviated H2O2-induced oxidative stress and endothelial-to-mesenchymal transition in human umbilical vein endothelial cells by inhibition of the mir-486-3p/Sirt6/Smad signaling pathway.
Title: Exosomes derived from adipose tissue-derived stem cells alleviated H(2)O(2)-induced oxidative stress and endothelial-to-mesenchymal transition in human umbilical vein endothelial cells by inhibition of the mir-486-3p/Sirt6/Smad signaling pathway.
MAP4K4 and WT1 mediate SOX6-induced cellular senescence by synergistically activating the ATF2-TGFbeta2-Smad2/3 signaling pathway in cervical cancer.
Title: MAP4K4 and WT1 mediate SOX6-induced cellular senescence by synergistically activating the ATF2-TGFβ2-Smad2/3 signaling pathway in cervical cancer.

Submit: New GeneRIF Correction See all GeneRIFs (623)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Associated conditions

Description	Tests
Aneurysm-osteoarthritis syndrome MedGen: C3151087 OMIM: 613795 GeneReviews: Loeys-Dietz Syndrome	Compare labs
Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243 GeneReviews: Heritable Thoracic Aortic Disease Overview	Compare labs

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MADH3_2337 (e-PCR)
- UniSTS:280832

G20255 (e-PCR)
- UniSTS:58131

A005A06 (e-PCR)
- UniSTS:58132

G19273 (e-PCR)
- UniSTS:64804

RH47017 (e-PCR)
- UniSTS:72806

RH47448 (e-PCR)
- UniSTS:39025

Smad3 (e-PCR), detects polymorphism
- UniSTS:466571

SHGC-79498 (e-PCR)
- UniSTS:182933

Madh3 (e-PCR), detects polymorphism
- UniSTS:143810

Madh3 (e-PCR), detects polymorphism
- UniSTS:143811

Madh3 (e-PCR), detects polymorphism
- UniSTS:143812

Madh3 (e-PCR), detects polymorphism
- UniSTS:143814

RH44526 (e-PCR)
- UniSTS:19657

SHGC-33628 (e-PCR)
- UniSTS:33508

STS-AA026105 (e-PCR)
- UniSTS:67816

STS-U68019 (e-PCR)
- UniSTS:23276

A008T12 (e-PCR)
- UniSTS:15855

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	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype 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
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in 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

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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)

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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

NG_011990.2 RefSeqGene

Range

5002..134569

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145102.2 → NP_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

H3BVD1

Related

ENSP00000437757.2, ENST00000540846.6

Conserved Domains (2) summary

cd10985
Location:119 → 309

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

cl00055
Location:1 → 27

MH1; N-terminal Mad Homology 1 (MH1) domain
NM_001145103.2 → NP_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:180 → 370

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

cl00055
Location:25 → 88

MH1; N-terminal Mad Homology 1 (MH1) domain
NM_001145104.2 → NP_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:29 → 219

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
NM_001407011.1 → NP_001393940.1 mothers against decapentaplegic homolog 3 isoform 5

Status: REVIEWED

Source sequence(s)

AC012568, AC087482

UniProtKB/TrEMBL

H3BQ00

Related

ENSP00000455540.2, ENST00000560424.2
NM_001407012.1 → NP_001393941.1 mothers against decapentaplegic homolog 3 isoform 6

Status: REVIEWED

Source sequence(s)

AC012568, AC087482

UniProtKB/TrEMBL

A0AAQ5BHI7

Related

ENSP00000519401.1, ENST00000714109.1
NM_001407013.1 → NP_001393942.1 mothers against decapentaplegic homolog 3 isoform 7

Status: REVIEWED

Source sequence(s)

AC012568, AC087482

Related

ENSP00000519400.1, ENST00000714108.1
NM_001407014.1 → NP_001393943.1 mothers against decapentaplegic homolog 3 isoform 8

Status: REVIEWED

Source sequence(s)

AC012568, AC087482
NM_001407015.1 → NP_001393944.1 mothers against decapentaplegic homolog 3 isoform 9

Status: REVIEWED

Source sequence(s)

AC012568
NM_001407016.1 → NP_001393945.1 mothers against decapentaplegic homolog 3 isoform 2

Status: REVIEWED

Source sequence(s)

AC012568

Related

ENSP00000453684.2, ENST00000558739.2
NM_001407017.1 → NP_001393946.1 mothers against decapentaplegic homolog 3 isoform 4

Status: REVIEWED

Source sequence(s)

AC012568

Related

ENSP00000452767.2, ENST00000558827.2
NM_005902.4 → NP_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

A0AAQ5BHK2

Related

ENSP00000332973.4, ENST00000327367.9

Conserved Domains (2) summary

cd10491
Location:8 → 132

MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3

cd10985
Location:224 → 414

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

67065602..67195169

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

64885345..65017070

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377915.1 → XP_054233890.1 mothers against decapentaplegic homolog 3 isoform X2
XM_054377914.1 → XP_054233889.1 mothers against decapentaplegic homolog 3 isoform X1