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GDF2 growth differentiation factor 2 [ Homo sapiens (human) ]

Gene ID: 2658, updated on 6-Sep-2020

Summary

Official Symbol
GDF2provided by HGNC
Official Full Name
growth differentiation factor 2provided by HGNC
Primary source
HGNC:HGNC:4217
See related
Ensembl:ENSG00000263761 MIM:605120
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
BMP9; HHT5; BMP-9
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 regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]
Expression
Restricted expression toward liver (RPKM 6.7) See more
Orthologs

Genomic context

See GDF2 in Genome Data Viewer
Location:
10q11.22
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (47322454..47327588)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (48413092..48416853, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378291 Neighboring gene uncharacterized LOC101929216 Neighboring gene growth differentiation factor 10 Neighboring gene retinol binding protein 3 Neighboring gene zinc finger protein 488

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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2016-10-13)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2016-10-13)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
BMP signaling pathway TAS
Traceable Author Statement
more info
 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood vessel morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
branching involved in blood vessel morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
cartilage development TAS
Traceable Author Statement
more info
PubMed 
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
cellular response to BMP stimulus IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA replication TAS
Traceable Author Statement
more info
PubMed 
negative regulation of angiogenesis TAS
Traceable Author Statement
more info
PubMed 
negative regulation of blood vessel endothelial cell migration TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
ossification TAS
Traceable Author Statement
more info
PubMed 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cartilage development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-8 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
growth/differentiation factor 2
Names
bone morphogenetic protein 9

NCBI Reference Sequences (RefSeq)

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_033916.1 RefSeqGene

    Range
    4965..10099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016204.4NP_057288.1  growth/differentiation factor 2 preproprotein

    See identical proteins and their annotated locations for NP_057288.1

    Status: REVIEWED

    Source sequence(s)
    AF188285, AK314956, AL731561
    Consensus CDS
    CCDS73118.1
    UniProtKB/Swiss-Prot
    Q9UK05
    UniProtKB/TrEMBL
    B2RC63
    Related
    ENSP00000463051.1, ENST00000581492.3
    Conserved Domains (2) summary
    pfam00019
    Location:326428
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:76257
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    47322454..47327588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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