INHBB

inhibin subunit beta B, the group of Inhibin subunits

Basic information

Region (hg38): 2:120346135-120351803

Links

ENSG00000163083 ∙ NCBI:3625 ∙ OMIM:147390 ∙ HGNC:6067 ∙ Uniprot:P09529 ∙ 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 INHBB gene.

• Inborn genetic diseases (20 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INHBB 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	2
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	20	1	2

Variants in INHBB

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

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

Position	Type	Phenotype	Significance	ClinVar
2-120346181-G-A			Benign (Dec 01, 2022)
2-120346195-G-A		not specified	Uncertain significance (Oct 26, 2021)
2-120346195-G-T		not specified	Uncertain significance (Feb 16, 2023)
2-120346208-G-C		not specified	Uncertain significance (Dec 20, 2023)
2-120346210-G-A		not specified	Uncertain significance (Dec 13, 2021)
2-120346258-C-T		not specified	Uncertain significance (Aug 09, 2021)
2-120346312-C-T		not specified	Uncertain significance (Jul 25, 2023)
2-120346331-C-A		not specified	Uncertain significance (May 24, 2023)
2-120346372-C-T		not specified	Uncertain significance (Oct 04, 2022)
2-120346381-G-C		not specified	Uncertain significance (Mar 29, 2022)
2-120346402-G-C		not specified	Uncertain significance (May 31, 2022)
2-120346571-G-C		not specified	Uncertain significance (Jan 26, 2023)
2-120349116-C-G		not specified	Uncertain significance (Jan 23, 2024)
2-120349123-G-T		not specified	Uncertain significance (Mar 06, 2023)
2-120349200-C-T		not specified	Uncertain significance (Nov 07, 2022)
2-120349233-C-T		not specified	Uncertain significance (Oct 12, 2022)
2-120349290-A-G		not specified	Likely benign (Jan 24, 2024)
2-120349345-C-T		not specified	Uncertain significance (Jun 12, 2023)
2-120349372-G-A		not specified	Uncertain significance (Jan 30, 2024)
2-120349381-G-A		not specified	Uncertain significance (Jun 22, 2023)
2-120349388-C-T			Likely benign (Jul 01, 2022)
2-120349398-G-A		not specified	Uncertain significance (Dec 21, 2023)
2-120349411-G-A		not specified	Uncertain significance (Jul 09, 2021)
2-120349442-C-G		not specified	Uncertain significance (Dec 19, 2023)
2-120349502-C-G		not specified	Uncertain significance (Jan 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INHBB	protein_coding	protein_coding	ENST00000295228	2	5666

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.973	0.0271	125611	0	1	125612	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.19	135	228	0.593	0.0000153	2592
Missense in Polyphen		59	121.33	0.48627		1159
Synonymous	0.221	94	96.8	0.971	0.00000646	867
Loss of Function	3.09	0	11.1	0.00	6.66e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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);AGE-RAGE pathway;BMP Signaling Pathway in Eyelid Development;Signal Transduction;Peptide hormone metabolism;Antagonism of Activin by Follistatin;Signaling by Activin;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;Signaling by TGF-beta family members;Peptide hormone biosynthesis (Consensus)

Recessive Scores

• pRec: 0.258

Haploinsufficiency Scores

• pHI: 0.294
• hipred: Y
• hipred_score: 0.809
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.884

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Inhbb
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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; vision/eye phenotype; homeostasis/metabolism phenotype; immune system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; muscle phenotype; craniofacial phenotype

Gene ontology

• Biological process: ovarian follicle development;defense response;cellular response to starvation;response to wounding;regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;cell differentiation;cellular response to insulin stimulus;activin receptor signaling pathway;regulation of apoptotic process;regulation of MAPK cascade;cellular response to leptin stimulus;adhesion of symbiont to host cell;fat cell differentiation;negative regulation of insulin secretion;positive regulation of follicle-stimulating hormone secretion;negative regulation of follicle-stimulating hormone secretion;negative regulation of hepatocyte growth factor biosynthetic process;cell development;oocyte development;positive regulation of ovulation;SMAD protein signal transduction;positive regulation of apoptotic signaling pathway
• Cellular component: extracellular region;extracellular space;perinuclear region of cytoplasm;cell periphery
• Molecular function: cytokine activity;transforming growth factor beta receptor binding;hormone activity;protein binding;growth factor activity;protein homodimerization activity;host cell surface receptor binding