INHBC

inhibin subunit beta C, the group of Inhibin subunits

Basic information

Region (hg38): 12:57434783-57452062

Links

ENSG00000175189 ∙ NCBI:3626 ∙ OMIM:601233 ∙ HGNC:6068 ∙ Uniprot:P55103 ∙ 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 INHBC gene.

• Inborn genetic diseases (12 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INHBC 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						0
missense			11	1	1	13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	1

Variants in INHBC

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

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

Position	Type	Phenotype	Significance	ClinVar
12-57434956-G-A		not specified	Likely benign (Jun 24, 2022)
12-57434990-A-G		not specified	Uncertain significance (Apr 05, 2023)
12-57435002-A-G		not specified	Uncertain significance (Nov 10, 2022)
12-57435004-C-T		not specified	Uncertain significance (Nov 18, 2022)
12-57435117-G-C		not specified	Uncertain significance (Oct 06, 2022)
12-57449312-C-G		not specified	Uncertain significance (Nov 12, 2021)
12-57449376-T-C		not specified	Uncertain significance (Jan 03, 2024)
12-57449550-C-G		not specified	Uncertain significance (Nov 07, 2023)
12-57449634-G-A		not specified	Uncertain significance (Dec 22, 2023)
12-57449678-G-T		not specified	Uncertain significance (Mar 24, 2023)
12-57449708-C-G		not specified	Uncertain significance (Jan 23, 2024)
12-57449733-G-A		not specified	Uncertain significance (Dec 01, 2022)
12-57449733-G-C		not specified	Uncertain significance (Dec 28, 2022)
12-57449759-A-G		not specified	Uncertain significance (Dec 19, 2022)
12-57449804-C-T		not specified	Uncertain significance (Dec 26, 2023)
12-57449877-A-G		not specified	Uncertain significance (Jan 04, 2022)
12-57449922-C-T		not specified	Uncertain significance (Nov 30, 2022)
12-57449928-G-A			Benign (Jan 18, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INHBC	protein_coding	protein_coding	ENST00000309668	2	16069

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000563	0.708	125667	0	81	125748	0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	160	200	0.799	0.0000105	2266
Missense in Polyphen		50	67.154	0.74455		789
Synonymous	1.61	60	78.1	0.768	0.00000385	771
Loss of Function	0.977	8	11.6	0.690	7.47e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000235	0.000235
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.0000505	0.0000462
European (Non-Finnish)	0.000477	0.000475
Middle Eastern	0.000326	0.000326
South Asian	0.000359	0.000359
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.
• Pathway: TGF-beta signaling pathway - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Peptide hormone metabolism;Metabolism of proteins;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;Glycoprotein hormones;Peptide hormone biosynthesis (Consensus)

Recessive Scores

• pRec: 0.183

Intolerance Scores

• loftool: 0.538
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63

Haploinsufficiency Scores

• pHI: 0.166
• hipred: Y
• hipred_score: 0.604
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0738

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Inhbc
• Phenotype: homeostasis/metabolism phenotype; normal phenotype

Gene ontology

• Biological process: regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;regulation of apoptotic process;regulation of MAPK cascade;cell development;SMAD protein signal transduction
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;transforming growth factor beta receptor binding;hormone activity;growth factor activity