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    GDF3 growth differentiation factor 3 [ Homo sapiens (human) ]

    Gene ID: 9573, updated on 17-Jun-2024

    Summary

    Official Symbol
    GDF3provided by HGNC
    Official Full Name
    growth differentiation factor 3provided by HGNC
    Primary source
    HGNC:HGNC:4218
    See related
    Ensembl:ENSG00000184344 MIM:606522; AllianceGenome:HGNC:4218
    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
    KFS3; MCOP7; MCOPCB6
    Summary
    This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See GDF3 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (7689784..7695775, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (7704552..7710540, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7842380..7848371, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene clathrin light chain A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7761225-7761725 Neighboring gene MPRA-validated peak1559 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:7790442-7790976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4203 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 1 Neighboring gene Sharpr-MPRA regulatory region 10898 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:7824935-7825436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:7825437-7825936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:7846215-7846852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7856907-7857580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7860307-7860932 Neighboring gene developmental pluripotency associated 3 Neighboring gene MPRA-validated peak1561 silencer Neighboring gene C-type lectin domain family 4 member C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5921

    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

    Associated conditions

    Description Tests
    Isolated microphthalmia 7
    MedGen: C3150969 OMIM: 613704 GeneReviews: Not available
    Compare labs
    Klippel-Feil syndrome 3, autosomal dominant
    MedGen: C3150967 OMIM: 613702 GeneReviews: Not available
    Compare labs
    Microphthalmia, isolated, with coloboma 6
    MedGen: C3150968 OMIM: 613703 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in formation of anatomical boundary IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epidermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in notochord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in primitive streak formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somite rostral/caudal axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    growth/differentiation factor 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_028167.1 RefSeqGene

      Range
      4990..10981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020634.3NP_065685.1  growth/differentiation factor 3 preproprotein

      See identical proteins and their annotated locations for NP_065685.1

      Status: REVIEWED

      Source sequence(s)
      AA926805, AF263538, AY358875
      Consensus CDS
      CCDS8581.1
      UniProtKB/Swiss-Prot
      Q8NEJ4, Q9NR23
      UniProtKB/TrEMBL
      Q8NI58
      Related
      ENSP00000331745.3, ENST00000329913.4
      Conserved Domains (2) summary
      smart00204
      Location:264364
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:109220
      TGFb_propeptide; TGF-beta propeptide

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      7689784..7695775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      7704552..7710540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)