INHBB
inhibin subunit beta B, the group of Inhibin subunits
Basic information
Region (hg38): 2:120346136-120351803
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (53 variants)
- not_provided (2 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. These statistics are base on transcript: NM_000002193.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 52 | 53 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 52 | 2 | 1 |
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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