ITGB8

integrin subunit beta 8, the group of Integrin beta subunits

Basic information

Region (hg38): 7:20330701-20415754

Links

ENSG00000105855 ∙ NCBI:3696 ∙ OMIM:604160 ∙ HGNC:6163 ∙ Uniprot:P26012 ∙ 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 ITGB8 gene.

• Inborn genetic diseases (28 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITGB8 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			27	1		28
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	27	1	1

Variants in ITGB8

This is a list of pathogenic ClinVar variants found in the ITGB8 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-20331825-G-A		not specified	Uncertain significance (Jan 18, 2023)
7-20331922-T-C		not specified	Uncertain significance (Jul 14, 2021)
7-20331928-A-G		not specified	Uncertain significance (Dec 28, 2022)
7-20331938-G-GTTGTT			Benign (Jan 10, 2021)
7-20363688-C-T		not specified	Uncertain significance (Apr 25, 2022)
7-20367039-G-A		not specified	Uncertain significance (Nov 29, 2021)
7-20367043-G-A		not specified	Uncertain significance (May 27, 2022)
7-20367094-T-C		not specified	Uncertain significance (Dec 18, 2023)
7-20367171-A-G		not specified	Uncertain significance (Feb 23, 2023)
7-20379056-G-A		not specified	Uncertain significance (Oct 26, 2022)
7-20379167-G-A		not specified	Uncertain significance (Apr 20, 2023)
7-20379171-G-C		not specified	Uncertain significance (Sep 16, 2021)
7-20379176-G-A		not specified	Uncertain significance (Jul 20, 2021)
7-20379206-C-T		not specified	Uncertain significance (Feb 23, 2023)
7-20380721-A-T		not specified	Uncertain significance (Sep 14, 2023)
7-20381814-G-T		not specified	Uncertain significance (Aug 01, 2022)
7-20381839-G-C		not specified	Uncertain significance (Jun 29, 2023)
7-20394905-C-A		not specified	Uncertain significance (Jun 22, 2021)
7-20394930-G-A		not specified	Uncertain significance (Aug 01, 2022)
7-20394937-A-G		not specified	Uncertain significance (Jan 04, 2022)
7-20398926-G-A		not specified	Uncertain significance (Nov 22, 2023)
7-20398935-C-A		not specified	Uncertain significance (Oct 26, 2022)
7-20401796-A-G		not specified	Uncertain significance (Sep 29, 2023)
7-20401814-G-A		not specified	Likely benign (Jul 21, 2021)
7-20401832-A-G		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITGB8	protein_coding	protein_coding	ENST00000222573	14	85053

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00233	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.931	363	416	0.872	0.0000210	5072
Missense in Polyphen		98	154.24	0.63536		1804
Synonymous	0.572	141	150	0.941	0.00000810	1410
Loss of Function	5.11	5	39.8	0.126	0.00000198	508

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency- associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity). {ECO:0000250|UniProtKB:Q0VBD0, ECO:0000269|PubMed:1918072, ECO:0000305|PubMed:22278742}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Cell adhesion molecules (CAMs) - Homo sapiens (human);ECM-receptor interaction - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Integrin-mediated Cell Adhesion;Arrhythmogenic Right Ventricular Cardiomyopathy;Focal Adhesion;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Integrin cell surface interactions;Extracellular matrix organization;Molecules associated with elastic fibres;Elastic fibre formation;Integrin;Beta5 beta6 beta7 and beta8 integrin cell surface interactions (Consensus)

Recessive Scores

• pRec: 0.220

Intolerance Scores

• loftool: 0.0237
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.88

Haploinsufficiency Scores

• pHI: 0.373
• hipred: Y
• hipred_score: 0.775
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.337

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Itgb8
• Phenotype: 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); 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); embryo phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); craniofacial phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: itgb8
• Affected structure: brain vasculature
• Phenotype tag: abnormal
• Phenotype quality: broken

Gene ontology

• Biological process: vasculogenesis;ganglioside metabolic process;cell adhesion;cell-matrix adhesion;integrin-mediated signaling pathway;positive regulation of gene expression;negative regulation of gene expression;cell migration;extracellular matrix organization;cell adhesion mediated by integrin;positive regulation of angiogenesis;cartilage development;placenta blood vessel development;regulation of transforming growth factor beta activation
• Cellular component: plasma membrane;focal adhesion;integrin complex;cell surface;integrin alphav-beta8 complex;extracellular exosome
• Molecular function: integrin binding;signaling receptor activity;extracellular matrix protein binding