ITGB6 (integrin subunit beta 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3694
Gene name Gene Name - the full gene name approved by the HGNC.
Integrin subunit beta 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITGB6
Synonyms (NCBI Gene) Gene synonyms aliases
AI1H
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147558 6161 ENSG00000115221
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amelogenesis imperfecta Amelogenesis imperfecta type 1H rs730880297, rs730880298, rs140015315, rs730882118 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (44)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 26695873
Alopecia Associate 26695873
Amelogenesis Imperfecta Associate 25431241, 26695873
Brain Injuries Diffuse Associate 22924849
Breast Neoplasms Associate 27184932, 28349782, 33838601
Carcinogenesis Associate 21239458, 25816241
Carcinoma Hepatocellular Associate 31828095, 37603520
Carcinoma Non Small Cell Lung Associate 37619980
Carcinoma Pancreatic Ductal Associate 34957503
Carcinoma Squamous Cell Associate 34171074