Endometriosis Knowledgebase

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Gene id

3694

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

ITGB6 Gene UCSC Ensembl

Aliases

AI1H

Gene name

integrin subunit beta 6

Alternate names

integrin beta-6, integrin, beta 6,

Gene location

2q24.2 (160200312: 160099665) Exons: 16 NC_000002.12

Gene summary(Entrez)

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 of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

OMIM

147558

Protein Summary

Protein general information

P18564

Name: Integrin beta 6

Length: 788 Mass: 85,936

Sequence

MGIELLCLFFLFLGRNDHVQGGCALGGAETCEDCLLIGPQCAWCAQENFTHPSGVGERCDTPANLLAKGCQLNFI
ENPVSQVEILKNKPLSVGRQKNSSDIVQIAPQSLILKLRPGGAQTLQVHVRQTEDYPVDLYYLMDLSASMDDDLN
TIKELGSRLSKEMSKLTSNFRLGFGSFVEKPVSPFVKTTPEEIANPCSSIPYFCLPTFGFKHILPLTNDAERFNE
IVKNQKISANIDTPEGGFDAIMQAAVCKEKIGWRNDSLHLLVFVSDADSHFGMDSKLAGIVIPNDGLCHLDSKNE
YSMSTVLEYPTIGQLIDKLVQNNVLLIFAVTQEQVHLYENYAKLIPGATVGLLQKDSGNILQLIISAYEELRSEV
ELEVLGDTEGLNLSFTAICNNGTLFQHQKKCSHMKVGDTASFSVTVNIPHCERRSRHIIIKPVGLGDALELLVSP
ECNCDCQKEVEVNSSKCHHGNGSFQCGVCACHPGHMGPRCECGEDMLSTDSCKEAPDHPSCSGRGDCYCGQCICH
LSPYGNIYGPYCQCDNFSCVRHKGLLCGGNGDCDCGECVCRSGWTGEYCNCTTSTDSCVSEDGVLCSGRGDCVCG
KCVCTNPGASGPTCERCPTCGDPCNSKRSCIECHLSAAGQAREECVDKCKLAGATISEEEDFSKDGSVSCSLQGE
NECLITFLITTDNEGKTIIHSINEKDCPKPPNIPMIMLGVSLAILLIGVVLLCIWKLLVSFHDRKEVAKFEAERS
KAKWQTGTNPLYRGSTSTFKNVTYKHREKQKVDLSTDC

Structural information

Protein Domains	VWFA. (131-371)
Interpro:	IPR013111 IPR033760 IPR015812 IPR015436 IPR014836 IPR012896 IPR002369 IPR032695 IPR016201 IPR002035
Prosite:	PS00022 PS01186 PS00243
Pfam:	PF07974 PF08725 PF07965 PF00362 PF17205
PDB:	1LH9 4UM8 4UM9 5FFG 5FFO
PDBsum:	1LH9 4UM8 4UM9 5FFG 5FFO
DIP:	59187
STRING:	ENSP00000283249;

Other Databases

GeneCards: ITGB6; Malacards: ITGB6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001618	virus receptor activity	IEA	molecular_function
GO:0005178	integrin binding	IEA	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006954	inflammatory response	IEA	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007160	cell-matrix adhesion	IEA	biological_process
GO:0007229	integrin-mediated signali ng pathway	IEA	biological_process
GO:0008305	integrin complex	IEA	cellular_component
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0001618	virus receptor activity	IEA	molecular_function
GO:0004872	receptor activity	IEA	molecular_function
GO:0005178	integrin binding	IEA	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006954	inflammatory response	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007160	cell-matrix adhesion	IEA	biological_process
GO:0007229	integrin-mediated signali ng pathway	IEA	biological_process
GO:0007229	integrin-mediated signali ng pathway	IEA	biological_process
GO:0008305	integrin complex	IEA	cellular_component
GO:0008305	integrin complex	TAS	cellular_component
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0007155	cell adhesion	TAS	biological_process
GO:0008305	integrin complex	TAS	cellular_component
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
hsa05410  Hypertrophic cardiomyopathy
hsa04512  ECM-receptor interaction
hsa05414  Dilated cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Amelogenesis imperfecta	OMIM: 147558
Brain ischemia	PMID: 19910543
Endometriosis	PMID: 16697946
Endometriosis	INFBASE11917227
Stroke	PMID: 17434096

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
11917227	Endometrio sis			52 (40 eutopic and ectopic sam ples from patie nts with endome triosis were co mpared with 12 control endomet rial samples)		alphavbeta5 integrin alphavbeta6 integrin	Show abstract
16697946	Endometrio sis		52			Endometriosis	Show abstract