Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3655
Gene name Gene Name - the full gene name approved by the HGNC.
Integrin subunit alpha 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITGA6
Synonyms (NCBI Gene) Gene synonyms aliases
CD49f, ITGA6A, ITGA6B, JEB6, VLA-6
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs863223349 AGA>- Likely-pathogenic Coding sequence variant, 3 prime UTR variant, inframe deletion
rs1559159868 A>- Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023546 hsa-miR-1-3p Proteomics 18668040
MIRT023546 hsa-miR-1-3p Microarray 18668037
MIRT025291 hsa-miR-34a-5p Proteomics 21566225
MIRT028271 hsa-miR-32-5p Sequencing 20371350
MIRT028474 hsa-miR-30a-5p Proteomics 18668040
Transcription factors
Transcription factor Regulation Reference
POU5F1 Activation 22311737
SOX2 Activation 22311737
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 2649503, 9360996, 10811835, 15466886, 21880726, 33961781, 35271311, 35657344
GO:0005886 Component Plasma membrane IDA 21310825
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0005925 Component Focal adhesion HDA 21423176
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147556 6142 ENSG00000091409
Protein
UniProt ID P23229
Protein name Integrin alpha-6 (CD49 antigen-like family member F) (VLA-6) (CD antigen CD49f) [Cleaved into: Integrin alpha-6 heavy chain; Integrin alpha-6 light chain; Processed integrin alpha-6 (Alpha6p)]
Protein function Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4)
PDB 7CEB , 7CEC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01839 FG-GAP 355 393 FG-GAP repeat Repeat
PF08441 Integrin_alpha2 503 978 Integrin alpha Family
Tissue specificity TISSUE SPECIFICITY: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoforms containing segment X1 are ubiquitously expressed. Isoforms containing segment X1X2 are expressed in heart, kidney, placenta, colon, duodenum, myoblasts and myotu
Sequence
MAAAGQLCLLYLSAGLLSRLGAAFNLDTREDNVIRKYGDPGSLFGFSLAMHWQLQPEDKR
LLLVGAPRAEALPLQRANRTGGLYSCDITARGPCTRIEFDNDADPTSESKEDQWMGVTVQ
SQGPGGKVVTCAHRYEKRQHVNTKQESRDIFGRCYVLSQNLRIEDDMDGGDWSFCDGRLR
GHEKFGSCQQGVAATFTKDFHYIVFGAPGTYNWKGIVRVEQKNNTFFDMNIFEDGPYEVG
GETEHDESLVPVPANSYLGLLFLTSVSYTDPDQFVYKTRPPREQPDTFPDVMMNSYLGFS
LDSGKGIVSKDEITFVSGAPRANHSGAVVLLKRDMKSAHLLPEHIFDGEGLASSFGYDVA
VVDLNKDGWQDIVIGAPQYFDRDGEVGGAVYVY
MNQQGRWNNVKPIRLNGTKDSMFGIAV
KNIGDINQDGYPDIAVGAPYDDLGKVFIYHGSANGINTKPTQVLKGISPYFGYSIAGNMD
LDRNSYPDVAVGSLSDSVTIFRSRPVINIQKTITVTPNRIDLRQKTACGAPSGICLQVKS
CFEYTANPAGYNPSISIVGTLEAEKERRKSGLSSRVQFRNQGSEPKYTQELTLKRQKQKV
CMEETLWLQDNIRDKLRPIPITASVEIQEPSSRRRVNSLPEVLPILNSDEPKTAHIDVHF
LKEGCGDDNVCNSNLKLEYKFCTREGNQDKFSYLPIQKGVPELVLKDQKDIALEITVTNS
PSNPRNPTKDGDDAHEAKLIATFPDTLTYSAYRELRAFPEKQLSCVANQNGSQADCELGN
PFKRNSNVTFYLVLSTTEVTFDTPDLDINLKLETTSNQDNLAPITAKAKVVIELLLSVSG
VAKPSQVYFGGTVVGEQAMKSEDEVGSLIEYEFRVINLGKPLTNLGTATLNIQWPKEISN
GKWLLYLVKVESKGLEKVTCEPQKEINSLNLTESHNSRKKREITEKQIDDNRKFSLFAER
KYQTLNCSVNVNCVNIRC
PLRGLDSKASLILRSRLWNSTFLEEYSKLNYLDILMRAFIDV
TAAAENIRLPNAGTQVRVTVFPSKTVAQYSGVPWWIILVAILAGILMLALLVFILWKCGF
FKRSRYDDSVPRYHAVRIRKEEREIKDEKYIDNLEKKQWITKWNENESYS
Sequence length 1130
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules
Hematopoietic cell lineage
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Toxoplasmosis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Assembly of collagen fibrils and other multimeric structures
Basigin interactions
Integrin cell surface interactions
Laminin interactions
Syndecan interactions
Type I hemidesmosome assembly
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Epidermolysis Bullosa Epidermolysis bullosa, junctional 6, with pyloric atresia rs2147483647, rs769808745, rs754621187 N/A
Schizophrenia Childhood-onset schizophrenia rs863223349 N/A
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
Breast Cancer Breast cancer N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Junctional Epidermolysis Bullosa With Pyloric Atresia junctional epidermolysis bullosa with pyloric atresia N/A N/A ClinVar
Prostate cancer Prostate cancer, Prostate cancer (late onset) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 34818353
Adenocarcinoma of Lung Associate 35029906
Aicardi Syndrome Associate 37040084
Anemia Sickle Cell Associate 32987729
Arthritis Rheumatoid Associate 9849316
Arthropathy progressive pseudorheumatoid of childhood Associate 8751975
Asthma Associate 29769273, 32494122
Barrett Esophagus Associate 34818353
Blister Associate 1694890
Breast Neoplasms Associate 22791584, 25269750, 25445919, 25450398, 26695635, 27001172, 27624978, 28084338, 29909039, 30850363, 32494122, 33500458, 34626053, 38250718