GDF7

growth differentiation factor 7, the group of Transforming growth factor beta superfamily

Basic information

Region (hg38): 2:20667144-20679243

Links

ENSG00000143869 ∙ NCBI:151449 ∙ OMIM:604651 ∙ HGNC:4222 ∙ Uniprot:Q7Z4P5 ∙ 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 GDF7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GDF7 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			26	2	2	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	3

Variants in GDF7

This is a list of pathogenic ClinVar variants found in the GDF7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-20667261-G-A		not specified	Uncertain significance (Dec 15, 2022)
2-20667363-G-A		not specified	Uncertain significance (Dec 22, 2023)
2-20667415-C-T		not specified	Uncertain significance (Dec 03, 2024)
2-20667432-G-A		not specified	Uncertain significance (Sep 29, 2022)
2-20667445-G-A		not specified	Uncertain significance (Sep 23, 2023)
2-20667472-G-T		not specified	Uncertain significance (Sep 14, 2023)
2-20667483-A-T		not specified	Uncertain significance (Jun 10, 2024)
2-20667508-A-G		not specified	Uncertain significance (Jul 17, 2024)
2-20667543-A-G			Likely benign (Apr 01, 2023)
2-20667577-C-G		not specified	Uncertain significance (Sep 25, 2024)
2-20667621-G-A		not specified	Uncertain significance (Jan 16, 2024)
2-20667622-C-A		not specified	Uncertain significance (Nov 25, 2024)
2-20670581-G-A		not specified	Uncertain significance (Jul 30, 2024)
2-20670583-C-T		not specified	Uncertain significance (Jul 09, 2021)
2-20670649-C-G		not specified	Uncertain significance (Jun 16, 2024)
2-20670659-A-C		not specified	Uncertain significance (Oct 26, 2022)
2-20670715-G-A		not specified	Uncertain significance (Oct 12, 2021)
2-20670721-A-G		not specified	Likely benign (Aug 04, 2023)
2-20670727-C-T		not specified	Uncertain significance (May 08, 2024)
2-20670752-C-G		not specified	Uncertain significance (Jan 29, 2024)
2-20670791-C-G		not specified	Uncertain significance (May 08, 2023)
2-20670815-G-A		not specified	Uncertain significance (Jun 27, 2023)
2-20670851-C-T		not specified	Uncertain significance (Aug 10, 2021)
2-20670862-G-C		not specified	Uncertain significance (Jan 18, 2022)
2-20670868-G-A		not specified	Uncertain significance (Oct 05, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GDF7	protein_coding	protein_coding	ENST00000272224	2	6995

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.631	0.363	124024	0	2	124026	0.00000806

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	135	208	0.648	0.0000131	2728
Missense in Polyphen		69	116.82	0.59066		1239
Synonymous	1.66	79	100	0.789	0.00000695	1043
Loss of Function	2.19	1	7.44	0.134	3.59e-7	96

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000903	0.00000903
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an active role in the motor area of the primate neocortex. {ECO:0000250}.
• Pathway: TGF-beta signaling pathway - Homo sapiens (human);Axon guidance - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);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: 0.103

Haploinsufficiency Scores

• pHI: 0.0791
• hipred: N
• hipred_score: 0.464
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.298

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gdf7
• Phenotype: endocrine/exocrine gland phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); embryo phenotype

Gene ontology

• Biological process: axon guidance;regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;roof plate formation;spinal cord association neuron differentiation;gland morphogenesis;BMP signaling pathway;epithelial cell differentiation;midbrain development;activin receptor signaling pathway;regulation of apoptotic process;regulation of MAPK cascade;cell fate commitment;positive regulation of neuron differentiation;positive regulation of transcription, DNA-templated;cell development;reproductive structure development;branching morphogenesis of an epithelial tube;forebrain morphogenesis;pathway-restricted SMAD protein phosphorylation;SMAD protein signal transduction;morphogenesis of an epithelial fold;positive regulation of tendon cell differentiation
• Cellular component: extracellular space
• Molecular function: cytokine activity;transforming growth factor beta receptor binding;protein binding;growth factor activity;protein homodimerization activity