GDF7 growth differentiation factor 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF7provided by HGNC
Official Full Name: growth differentiation factor 7provided by HGNC
Primary source: HGNC:HGNC:4222
See related: Ensembl:ENSG00000143869 MIM:604651; AllianceGenome:HGNC:4222
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: BMP12
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 may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]
Expression: Biased expression in kidney (RPKM 1.0), endometrium (RPKM 0.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p24.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (20667144..20679243)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (20700448..20712559)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (20866904..20879003)

Chromosome 2 - NC_000002.12 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
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?

Growth differentiation factor 7 autocrine signaling promotes hepatic progenitor cell expansion in liver fibrosis.
Title: Growth differentiation factor 7 autocrine signaling promotes hepatic progenitor cell expansion in liver fibrosis.
TET-dependent GDF7 hypomethylation impairs aqueous humor outflow and serves as a potential therapeutic target in glaucoma.
Title: TET-dependent GDF7 hypomethylation impairs aqueous humor outflow and serves as a potential therapeutic target in glaucoma.
Secretome screening reveals immunomodulating functions of IFNalpha-7, PAP and GDF-7 on regulatory T-cells.
Title: Secretome screening reveals immunomodulating functions of IFNα-7, PAP and GDF-7 on regulatory T-cells.
BMP-12 activates tenogenic pathway in human adipose stem cells.
Title: Bmp-12 activates tenogenic pathway in human adipose stem cells and affects their immunomodulatory and secretory properties.
The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk.
Title: The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk.
closest protein-coding genes were respectively GDF7 (rs3072), which encodes a ligand in the bone morphogenetic protein pathway, and TBX5 (rs2701108), which encodes a transcription factor that regulates esophageal and cardiac development
Title: Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus.
BMP12 induces tenogenic differentiation of adipose-derived stromal cells via the Smad1/5/8 pathway.
Title: BMP12 induces tenogenic differentiation of adipose-derived stromal cells.
studies show that even though tenogenic (BMP 12 and BMP 13) and osteogenic (BMP2) BMPs bind the same receptors with high affinity they signal much differently and result in differential activation of osteogenic and tenogenic markers
Title: Divergent activities of osteogenic BMP2, and tenogenic BMP12 and BMP13 independent of receptor binding affinities.
induces ligamentogenic differentiation in mesenchymal progenitors
Title: BMP12 and BMP13 gene transfer induce ligamentogenic differentiation in mesenchymal progenitor and anterior cruciate ligament cells.
stimulates expression of both chondrogenic and osteoblstic markers in pluripotent mesenchymal C3H10T1/2 cells.
Title: Effects of cartilage-derived morphogenetic protein-3 on the expression of chondrogenic and osteoblastic markers in the pluripotent mesenchymal C3H10T1/2 cell line.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in branching morphogenesis of an epithelial tube	IEA Inferred from Electronic Annotation more info
involved_in cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in forebrain morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in midbrain development	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelial fold	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tendon cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in reproductive structure development	IEA Inferred from Electronic Annotation more info
involved_in roof plate formation	IEA Inferred from Electronic Annotation more info
involved_in spinal cord association neuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: growth/differentiation factor 7

Names: GDF-7

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.

mRNA and Protein(s)

NM_182828.4 → NP_878248.2 growth/differentiation factor 7 preproprotein

See identical proteins and their annotated locations for NP_878248.2

Status: REVIEWED

Source sequence(s)

AB158468, AC012065, AF522369, BQ182131

Consensus CDS

CCDS1701.1

UniProtKB/Swiss-Prot

Q7Z4P5

UniProtKB/TrEMBL

Q75RY1

Related

ENSP00000272224.3, ENST00000272224.5

Conserved Domains (2) summary

smart00204
Location:352 → 450

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:91 → 217

TGFb_propeptide; TGF-beta propeptide