INHA

inhibin subunit alpha, the group of Inhibin subunits

Basic information

Region (hg38): 2:219569162-219575711

Links

ENSG00000123999 ∙ NCBI:3623 ∙ OMIM:147380 ∙ HGNC:6065 ∙ Uniprot:P05111 ∙ 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 INHA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INHA 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				4	3	7
missense			18	6		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	10	3

Variants in INHA

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

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

Position	Type	Phenotype	Significance	ClinVar
2-219570191-CCCCTCCCTAGGTCCCGGGCTCCGCCGTACCTTTCA-C			Likely pathogenic (Apr 03, 2021)
2-219570220-C-A			Likely pathogenic (Sep 06, 2023)
2-219570240-G-A		3M syndrome 2	Uncertain significance (Jan 13, 2018)
2-219570240-G-T			Conflicting classifications of pathogenicity (Dec 09, 2023)
2-219570251-T-C			Uncertain significance (Jul 07, 2023)
2-219570255-G-A			Likely benign (Jun 13, 2022)
2-219570255-G-C			Likely benign (Jul 17, 2023)
2-219570262-G-A			Uncertain significance (Jun 13, 2022)
2-219570266-T-G		Inborn genetic diseases	Uncertain significance (Apr 16, 2024)
2-219570271-G-A			Uncertain significance (Jul 26, 2022)
2-219570271-G-C		Inborn genetic diseases	Uncertain significance (Jul 22, 2023)
2-219570282-G-T			Likely pathogenic (-)
2-219570298-T-G			Uncertain significance (Dec 22, 2023)
2-219570311-A-AG		3M syndrome 2	Likely pathogenic (May 29, 2024)
2-219570312-A-G		not specified • 3M syndrome 2	Benign (Jan 31, 2024)
2-219570312-A-GG		3M syndrome 2	Likely pathogenic (Oct 15, 2022)
2-219570326-C-T		3M syndrome 2	Uncertain significance (Mar 30, 2018)
2-219570330-G-A		not specified	Benign (Dec 30, 2023)
2-219570335-C-A		Inborn genetic diseases	Uncertain significance (Jan 08, 2024)
2-219570341-G-A		Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 01, 2023)
2-219570348-G-A			Likely benign (Aug 20, 2022)
2-219570357-G-A			Benign (Dec 28, 2023)
2-219570378-C-T			Likely benign (Dec 09, 2022)
2-219570382-C-T		3M syndrome 2 • OBSL1-related disorder	Benign/Likely benign (Nov 17, 2023)
2-219570384-GC-G		3M syndrome 2	Pathogenic (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INHA	protein_coding	protein_coding	ENST00000243786	2	6552

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00647	0.920	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.446	194	212	0.914	0.0000128	2283
Missense in Polyphen		41	59.515	0.6889		682
Synonymous	-1.97	118	93.8	1.26	0.00000527	859
Loss of Function	1.54	5	10.3	0.483	6.15e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
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: Ovarian Infertility Genes;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: 0.260

Intolerance Scores

• loftool: 0.0463
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

• pHI: 0.354
• hipred: N
• hipred_score: 0.446
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.574

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Inha
• Phenotype: liver/biliary system phenotype; neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal 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; digestive/alimentary phenotype; skeleton phenotype; homeostasis/metabolism phenotype; immune system phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: skeletal system development;ovarian follicle development;cell cycle arrest;signal transduction;cell surface receptor signaling pathway;cell-cell signaling;male gonad development;regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;cell differentiation;erythrocyte differentiation;regulation of cell population proliferation;negative regulation of phosphorylation;hemoglobin biosynthetic process;regulation of apoptotic process;regulation of MAPK cascade;negative regulation of interferon-gamma biosynthetic process;negative regulation of B cell differentiation;negative regulation of macrophage differentiation;negative regulation of cell cycle;positive regulation of follicle-stimulating hormone secretion;negative regulation of follicle-stimulating hormone secretion;cell development;regulation of cell cycle;SMAD protein signal transduction
• Cellular component: photoreceptor outer segment;photoreceptor inner segment;extracellular region;extracellular space;cytoplasm;inhibin-betaglycan-ActRII complex;neuronal cell body;inhibin A complex;inhibin B complex
• Molecular function: signaling receptor binding;cytokine activity;transforming growth factor beta receptor binding;hormone activity;protein binding;growth factor activity;inhibin binding;protein heterodimerization activity