ITGB6 (integrin subunit beta 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3694
Gene name Integrin subunit beta 6
Gene symbol ITGB6
Synonyms (NCBI Gene)
AI1H
Chromosome 2
Chromosome location 2q24.2
Summary This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed o
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs140015315 C>T Pathogenic Coding sequence variant, missense variant
rs730880297 G>A Pathogenic Intron variant, stop gained, coding sequence variant
rs730880298 G>A,C,T Pathogenic Missense variant, coding sequence variant
rs730882118 A>T Pathogenic Missense variant, coding sequence variant
rs779692470 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT018663 hsa-miR-335-5p Microarray 18185580
MIRT531363 hsa-miR-4267 PAR-CLIP 20371350
MIRT531362 hsa-miR-4539 PAR-CLIP 20371350
MIRT531361 hsa-miR-376a-5p PAR-CLIP 20371350
MIRT531363 hsa-miR-4267 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (54)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0001618 Function Virus receptor activity IEA
GO:0005178 Function Integrin binding IBA
GO:0005178 Function Integrin binding IEA
GO:0005515 Function Protein binding IPI 17158881, 21677751, 25383667, 28534487
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147558 6161 ENSG00000115221
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18564
Protein name Integrin beta-6
Protein function Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17158881, PubMed:17545607). It recognizes the sequence R-G-D in its ligands (PubMed:17158881, PubMed:17545607). Internalization of integrin alpha-V/beta-6
PDB 4UM8 , 4UM9 , 5FFG , 5FFO , 5NEM , 5NER , 5NET , 5NEU , 8TCG , 9CZ7 , 9CZA , 9CZD , 9CZF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17205 PSI_integrin 22 → 71 Integrin plexin domain Domain
PF00362 Integrin_beta 128 → 375 Integrin beta chain VWA domain Domain
PF18372 I-EGF_1 456 → 485 Integrin beta epidermal growth factor like domain 1 Domain
PF07974 EGF_2 544 → 574 EGF-like domain Domain
PF07974 EGF_2 583 → 614 EGF-like domain Domain
PF07965 Integrin_B_tail 624 → 707 Integrin beta tail domain Domain
PF08725 Integrin_b_cyt 731 → 775 Integrin beta cytoplasmic domain Domain
Sequence
Sequence length 788
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy 		  Elastic fibre formation
Molecules associated with elastic fibres
Integrin cell surface interactions
ECM proteoglycans
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adolescent alopeciam dentogingival abnormalitites and intellectual disability Pathogenic rs779692470 RCV000201256
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta type 1H Pathogenic; Likely pathogenic rs561588576, rs1683256077, rs140015315, rs730882118, rs730880297, rs730880298, rs140624114 RCV001807869
RCV001807870
RCV000157638
RCV000157639
RCV000157640
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (38)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 1 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (88)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia BEFREE 26695873
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia-intellectual disability syndrome Alopecia-mental retardation syndrome Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 24305999, 24319098, 25431241, 26695873
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 25431241, 26695873 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta HPO_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form Amelogenesis Imperfecta ORPHANET_DG 24305999
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IH Amelogenesis imperfecta UNIPROT_DG 24305999, 24319098
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IH Amelogenesis imperfecta GENOMICS_ENGLAND_DG 26695873
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IH Amelogenesis imperfecta CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations