ITGA11

integrin subunit alpha 11, the group of Integrin alpha subunits

Basic information

Region (hg38): 15:68296532-68432163

Links

ENSG00000137809 ∙ NCBI:22801 ∙ OMIM:604789 ∙ HGNC:6136 ∙ Uniprot:Q9UKX5 ∙ 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 ITGA11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITGA11 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	1	5
missense			117	6	1	124
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	117	10	2

Variants in ITGA11

This is a list of pathogenic ClinVar variants found in the ITGA11 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-68303791-A-G		not specified	Uncertain significance (Apr 30, 2024)
15-68303812-C-T		not specified	Uncertain significance (Dec 21, 2023)
15-68303824-C-A		Inborn genetic diseases	Uncertain significance (Aug 28, 2013)
15-68307352-C-T		not specified	Uncertain significance (Oct 06, 2021)
15-68307409-G-A		not specified	Uncertain significance (May 23, 2023)
15-68307410-C-T		not specified	Uncertain significance (Dec 22, 2023)
15-68311008-G-A		not specified	Uncertain significance (Aug 28, 2023)
15-68311011-G-A		not specified	Uncertain significance (Mar 12, 2024)
15-68311031-G-T		not specified	Uncertain significance (Dec 18, 2023)
15-68311037-C-T		not specified	Uncertain significance (Jan 03, 2024)
15-68311046-G-C		not specified	Uncertain significance (Dec 07, 2023)
15-68311073-G-A		not specified	Uncertain significance (Apr 05, 2023)
15-68311331-C-T		not specified	Uncertain significance (Jul 06, 2021)
15-68311382-G-A		not specified	Uncertain significance (Nov 28, 2023)
15-68312783-C-G		not specified	Uncertain significance (Dec 02, 2022)
15-68312787-T-C		not specified	Uncertain significance (May 11, 2022)
15-68312797-C-A			Likely benign (Oct 01, 2022)
15-68312822-G-A		not specified	Uncertain significance (Apr 26, 2023)
15-68312841-C-T		not specified	Uncertain significance (Apr 25, 2023)
15-68313782-G-A		not specified	Uncertain significance (Jun 18, 2021)
15-68313824-G-A		not specified	Likely benign (Dec 09, 2024)
15-68313863-C-T		not specified	Uncertain significance (May 06, 2024)
15-68315661-C-T		not specified	Likely benign (May 14, 2024)
15-68315690-A-G			Uncertain significance (Mar 01, 2023)
15-68317276-C-T		not specified	Uncertain significance (Mar 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITGA11	protein_coding	protein_coding	ENST00000315757	30	130452

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.66e-8	1.00	125228	0	57	125285	0.000228

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.807	651	712	0.915	0.0000436	7763
Missense in Polyphen		198	247.55	0.79982		2763
Synonymous	-0.631	315	301	1.05	0.0000210	2258
Loss of Function	4.38	23	59.5	0.387	0.00000289	690

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000581	0.000496
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000164
Finnish	0.000236	0.000232
European (Non-Finnish)	0.000307	0.000291
Middle Eastern	0.000167	0.000164
South Asian	0.000100	0.0000980
Other	0.000498	0.000492

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Integrin alpha-11/beta-1 is a receptor for collagen.
• Pathway: PI3K-Akt signaling pathway - 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;miRNA targets in ECM and membrane receptors;Focal Adhesion;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Integrin cell surface interactions;Extracellular matrix organization;Integrin;Arf6 trafficking events;Plexin-D1 Signaling;Beta1 integrin cell surface interactions (Consensus)

Recessive Scores

• pRec: 0.186

Intolerance Scores

• rvis_EVS: -1.31
• rvis_percentile_EVS: 4.82

Haploinsufficiency Scores

• pHI: 0.172
• hipred: N
• hipred_score: 0.462
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.211

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Itga11
• Phenotype: skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region 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); craniofacial phenotype; cellular phenotype

Gene ontology

• Biological process: osteoblast differentiation;substrate-dependent cell migration;cell adhesion;cell-matrix adhesion;integrin-mediated signaling pathway;muscle organ development;extracellular matrix organization;cell adhesion mediated by integrin;collagen-activated signaling pathway
• Cellular component: plasma membrane;focal adhesion;integrin complex;membrane;integrin alpha11-beta1 complex
• Molecular function: collagen binding;collagen receptor activity;metal ion binding;collagen binding involved in cell-matrix adhesion