ITGA11
protein-codingintegrin subunit alpha 11, the group of Integrin alpha subunits
Gene summary
This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~135.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ITGA11 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001004439.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 4 | 1 | 8 | ||
| missense | 197 | 10 | 207 | |||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 207 | 14 | 1 | 222 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001004439.1 | 30 | MANE Select | |
| Ensembl | ENSP00000327290.7 | 30 | MANE Select | |
| Ensembl | ENSP00000403392.2 | 30 | Standard | |
| Ensembl | ENSP00000403392.2 | 30 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- 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)
Biological Process
- osteoblast differentiation
- substrate-dependent cell migration
- cell adhesion
- cell-matrix adhesion
- integrin-mediated signaling pathway
Molecular Function
- collagen binding
- collagen receptor activity
- metal ion binding
- collagen binding involved in cell-matrix adhesion
Cellular Component
- plasma membrane
- focal adhesion
- integrin complex
- membrane
- integrin alpha11-beta1 complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000315757
- Coding exons
- 30
- Length
- 130452
- Individuals with no LoFs
- 125228
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 57
- Defined
- 125285
- p
- 0.000228
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.807 | 651 | 712 | 0.915 | 0.0000436 | 7763 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00047 | 0.00038 | rare |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00017 | 0.00016 | rare |
| Finnish | 0.00024 | 0.00023 | rare |
| European (Non-Finnish) | 0.00031 | 0.00029 | rare |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0.00050 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Integrin alpha-11/beta-1 is a receptor for collagen.;
Recessive Scores
- pRec
- 0.186
Intolerance Scores
- RVIS EVS
- -1.31
- RVIS percentile EVS
- 4.82
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.211
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |