INHBE

inhibin subunit beta E, the group of Inhibin subunits

Basic information

Region (hg38): 12:57452323-57459280

Links

ENSG00000139269 ∙ NCBI:83729 ∙ OMIM:612031 ∙ HGNC:24029 ∙ Uniprot:P58166 ∙ 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 INHBE gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INHBE 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			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in INHBE

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

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

Position	Type	Phenotype	Significance	ClinVar
12-57455619-C-T		not specified	Uncertain significance (May 23, 2024)
12-57455731-T-G		not specified	Uncertain significance (Jan 26, 2023)
12-57455748-C-T		not specified	Uncertain significance (Oct 05, 2021)
12-57455762-C-G		not specified	Uncertain significance (Mar 22, 2023)
12-57455765-C-T		not specified	Uncertain significance (Jan 09, 2024)
12-57455811-T-C		not specified	Uncertain significance (Nov 26, 2024)
12-57456097-C-G		not specified	Uncertain significance (Feb 16, 2023)
12-57456120-C-T		not specified	Uncertain significance (Jun 07, 2023)
12-57456130-A-G		not specified	Uncertain significance (Jun 26, 2023)
12-57456138-A-T		not specified	Uncertain significance (Feb 14, 2024)
12-57456142-C-A		not specified	Uncertain significance (May 28, 2024)
12-57456183-G-A		not specified	Likely benign (Dec 27, 2023)
12-57456215-G-T		not specified	Uncertain significance (Nov 04, 2022)
12-57456234-C-A		not specified	Uncertain significance (Jun 30, 2022)
12-57456258-C-T		not specified	Uncertain significance (Oct 05, 2022)
12-57456324-G-A		not specified	Uncertain significance (Oct 12, 2022)
12-57456385-G-A		not specified	Uncertain significance (Jul 27, 2022)
12-57456393-A-T		not specified	Uncertain significance (Nov 15, 2024)
12-57456424-A-C		not specified	Uncertain significance (Mar 08, 2024)
12-57456459-A-C		not specified	Uncertain significance (Jun 27, 2023)
12-57456489-C-G		not specified	Uncertain significance (May 01, 2022)
12-57456555-G-A		not specified	Uncertain significance (Aug 28, 2024)
12-57456558-G-A		not specified	Uncertain significance (Nov 13, 2024)
12-57456602-G-T		not specified	Uncertain significance (Dec 27, 2023)
12-57456607-A-G		not specified	Uncertain significance (Jun 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INHBE	protein_coding	protein_coding	ENST00000266646	2	6958

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.12e-8	0.188	125634	0	114	125748	0.000453

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.664	165	191	0.865	0.00000980	2213
Missense in Polyphen		55	72.247	0.76127		875
Synonymous	-0.449	89	83.8	1.06	0.00000409	809
Loss of Function	0.338	13	14.4	0.904	0.00000101	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000393	0.000393
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.0000945	0.0000924
European (Non-Finnish)	0.000708	0.000695
Middle Eastern	0.0000544	0.0000544
South Asian	0.000490	0.000490
Other	0.000993	0.000978

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: 0.546

Intolerance Scores

• loftool: 0.538
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.2

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.200
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.909

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Inhbe
• 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 space
• Molecular function: cytokine activity;transforming growth factor beta receptor binding;hormone activity;growth factor activity