Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	151449
Gene name	Growth differentiation factor 7
Gene symbol	GDF7
Synonyms (NCBI Gene)	BMP12
Chromosome	2
Chromosome location	2p24.1
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

Show/Hide all (56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048114	hsa-miR-197-3p	CLASH	23622248
MIRT719352	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT719353	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT719351	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT719350	hsa-miR-4736	HITS-CLIP	19536157
MIRT719352	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT719353	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT719351	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT719350	hsa-miR-4736	HITS-CLIP	19536157
MIRT711488	hsa-miR-1207-3p	HITS-CLIP	19536157
MIRT711487	hsa-miR-3687	HITS-CLIP	19536157
MIRT711486	hsa-miR-4442	HITS-CLIP	19536157
MIRT711485	hsa-miR-3135b	HITS-CLIP	19536157
MIRT711484	hsa-miR-1289	HITS-CLIP	19536157
MIRT711483	hsa-miR-4294	HITS-CLIP	19536157
MIRT711482	hsa-miR-3198	HITS-CLIP	19536157
MIRT711481	hsa-miR-4309	HITS-CLIP	19536157
MIRT657900	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT657899	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT657898	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT657897	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT657896	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT657895	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT657894	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT657893	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT657892	hsa-miR-587	HITS-CLIP	23824327
MIRT657891	hsa-miR-3685	HITS-CLIP	23824327
MIRT657890	hsa-miR-384	HITS-CLIP	23824327
MIRT732843	hsa-miR-204-5p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCR	33461605
MIRT719352	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT719353	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT719351	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT719350	hsa-miR-4736	HITS-CLIP	19536157
MIRT719352	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT719353	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT719351	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT719350	hsa-miR-4736	HITS-CLIP	19536157
MIRT711488	hsa-miR-1207-3p	HITS-CLIP	19536157
MIRT711487	hsa-miR-3687	HITS-CLIP	19536157
MIRT711486	hsa-miR-4442	HITS-CLIP	19536157
MIRT711485	hsa-miR-3135b	HITS-CLIP	19536157
MIRT711484	hsa-miR-1289	HITS-CLIP	19536157
MIRT711483	hsa-miR-4294	HITS-CLIP	19536157
MIRT711482	hsa-miR-3198	HITS-CLIP	19536157
MIRT711481	hsa-miR-4309	HITS-CLIP	19536157
MIRT657900	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT657899	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT657898	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT657897	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT657896	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT657895	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT657894	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT657893	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT657892	hsa-miR-587	HITS-CLIP	23824327
MIRT657891	hsa-miR-3685	HITS-CLIP	23824327
MIRT657890	hsa-miR-384	HITS-CLIP	23824327

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	16049014
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0021509	Process	Roof plate formation	IEA
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0022612	Process	Gland morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	16049014
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0032924	Process	Activin receptor signaling pathway	IDA	16049014
GO:0042802	Function	Identical protein binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16049014
GO:0048608	Process	Reproductive structure development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048853	Process	Forebrain morphogenesis	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	16049014
GO:0060571	Process	Morphogenesis of an epithelial fold	IEA
GO:0090092	Process	Regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
GO:2001051	Process	Positive regulation of tendon cell differentiation	IEA

MIM	HGNC	e!Ensembl
604651	4222	ENSG00000143869

Q7Z4P5

Protein name

Growth/differentiation factor 7 (GDF-7)

Protein function

May play an active role in the motor area of the primate neocortex.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	66 → 278	TGF-beta propeptide	Family
PF00019	TGF_beta	348 → 449	Transforming growth factor beta like domain	Domain

Sequence

MDLSAAAALCLWLLSACRPRDGLEAAAVLRAAGAGPVRSPGGGGGGGGGGRTLAQAAGAA
AVPAAAVPRARAARRAAGSGFRNGSVVPHHFMMSLYRSLAGRAPAGAAAVSASGHGRADT
ITGFTDQATQDESAAETGQSFLFDVSSLNDADEVVGAELRVLRRGSPESGPGSWTSPPLL
LLSTCPGAARAPRLLYSRAAEPLVGQRWEAFDVADAMRRHRREPRPPRAFCLLLRAVAGP
VPSPLALRRLGFGWPGGGGSAAEERAVLVVSSRTQRKESLFREIRAQARALGAALASEPL
PDPGTGTASPRAVIGGRRRRRTALAGTRTAQGSGGGAGRGHGRRGRSRCSRKPLHVDFKE
LGWDDWIIAPLDYEAYHCEGLCDFPLRSHLEPTNHAIIQTLLNSMAPDAAPASCCVPARL
SPISILYIDAANNVVYKQYEDMVVEACGCR

Sequence length

450

Interactions

View interactions

	KEGG
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance Hippo signaling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	26783083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASCAT_DG	27527254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	29174694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31838248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25447851, 26783083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25447851, 26783083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASCAT_DG	27527254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29986714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26783083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	27075568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37798809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	37798809	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	34027909	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tendinopathy	Tendinopathy	BEFREE	31637734		★★★★★ ★☆☆☆☆ Found in Text Mining only

GDF7 (growth differentiation factor 7)