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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 nameGene Name - the full gene name approved by the HGNC.
Integrin subunit beta 6
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ITGB6
SynonymsGene synonyms aliases
AI1H
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q24.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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 21873635
GO:0005515 Function Protein binding IPI 17158881, 21677751, 25383667
GO:0005654 Component Nucleoplasm IDA
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alopecia-mental retardation syndrome Alopecia-intellectual disability syndrome rs201849460, rs1569039353, rs1569036540, rs754230211, rs746562872, rs570157673, rs763705074
Amelogenesis imperfecta Amelogenesis Imperfecta, Amelogenesis imperfecta local hypoplastic form, Amelogenesis Imperfecta, Type III, AMELOGENESIS IMPERFECTA, TYPE IH rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952 24305999, 24319098, 24305999, 26695873, 24319098
Autoimmune diseases Autoimmune Diseases rs41285370, rs869025224 25055964
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia
Cholangitis Cholangitis 25055964
Dental enamel hypoplasia Dental Enamel Hypoplasia
Dwarfism Dwarfism

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