GDF10

growth differentiation factor 10, the group of Transforming growth factor beta superfamily

Basic information

Region (hg38): 10:47300197-47313577

Links

ENSG00000266524

∙ NCBI:2662 ∙ OMIM:601361 ∙ HGNC:4215 ∙ Uniprot:P55107 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GDF10 gene.

not_specified (72 variants)
not_provided (2 variants)
Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GDF10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004962.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			72 clinvar	1 clinvar	1 clinvar	74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	1	2

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis. {ECO:0000250|UniProtKB:P97737}.;
Pathway: Adipogenesis;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;TGF-beta super family signaling pathway canonical;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;BMP2 signaling TGF-beta MV;BMP signaling Dro (Consensus)

Recessive Scores

pRec: 0.175

Intolerance Scores

loftool: 0.195
rvis_EVS: 0.08
rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

pHI: 0.727
hipred: Y
hipred_score: 0.550
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.269

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Gdf10
Phenotype: endocrine/exocrine gland phenotype; reproductive system phenotype; normal phenotype; renal/urinary system phenotype;

Gene ontology

Biological process: skeletal system development;osteoblast differentiation;transforming growth factor beta receptor signaling pathway;regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;regulation of apoptotic process;regulation of MAPK cascade;fat cell differentiation;negative regulation of osteoblast differentiation;cell development;SMAD protein signal transduction
Cellular component: extracellular space;collagen-containing extracellular matrix
Molecular function: cytokine activity;transforming growth factor beta receptor binding;growth factor activity