Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

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
MIRT531362	hsa-miR-4539	PAR-CLIP	22012620
MIRT531361	hsa-miR-376a-5p	PAR-CLIP	22012620
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
MIRT531362	hsa-miR-4539	PAR-CLIP	22012620
MIRT531361	hsa-miR-376a-5p	PAR-CLIP	22012620

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
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IDA	17158881
GO:0005925	Component	Focal adhesion	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	2365683
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	NAS	19693543
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	19693543
GO:0008305	Component	Integrin complex	TAS	2365683
GO:0009611	Process	Response to wounding	IEA
GO:0009615	Process	Response to virus	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0033627	Process	Cell adhesion mediated by integrin	IBA
GO:0033627	Process	Cell adhesion mediated by integrin	IDA	17158881
GO:0033627	Process	Cell adhesion mediated by integrin	IEA
GO:0034685	Component	Integrin alphav-beta6 complex	IBA
GO:0034685	Component	Integrin alphav-beta6 complex	IDA	22278742
GO:0034685	Component	Integrin alphav-beta6 complex	IEA
GO:0034685	Component	Integrin alphav-beta6 complex	IPI	25383667
GO:0042060	Process	Wound healing	IEA
GO:0043129	Process	Surfactant homeostasis	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043588	Process	Skin development	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0055091	Process	Phospholipid homeostasis	IEA
GO:0060022	Process	Hard palate development	IEA
GO:0060348	Process	Bone development	IEA
GO:0060435	Process	Bronchiole development	IEA
GO:0061520	Process	Langerhans cell differentiation	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0071479	Process	Cellular response to ionizing radiation	IEA
GO:0071604	Process	Transforming growth factor beta production	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

MIM	HGNC	e!Ensembl
147558	6161	ENSG00000115221

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

MGIELLCLFFLFLGRNDHVQGGCALGGAETCEDCLLIGPQCAWCAQENFTHPSGVGERCD
TPANLLAKGCQLNFIENPVSQVEILKNKPLSVGRQKNSSDIVQIAPQSLILKLRPGGAQT
LQVHVRQTEDYPVDLYYLMDLSASMDDDLNTIKELGSRLSKEMSKLTSNFRLGFGSFVEK
PVSPFVKTTPEEIANPCSSIPYFCLPTFGFKHILPLTNDAERFNEIVKNQKISANIDTPE
GGFDAIMQAAVCKEKIGWRNDSLHLLVFVSDADSHFGMDSKLAGIVIPNDGLCHLDSKNE
YSMSTVLEYPTIGQLIDKLVQNNVLLIFAVTQEQVHLYENYAKLIPGATVGLLQKDSGNI
LQLIISAYEELRSEVELEVLGDTEGLNLSFTAICNNGTLFQHQKKCSHMKVGDTASFSVT
VNIPHCERRSRHIIIKPVGLGDALELLVSPECNCDCQKEVEVNSSKCHHGNGSFQCGVCA
CHPGHMGPRCECGEDMLSTDSCKEAPDHPSCSGRGDCYCGQCICHLSPYGNIYGPYCQCD
NFSCVRHKGLLCGGNGDCDCGECVCRSGWTGEYCNCTTSTDSCVSEDGVLCSGRGDCVCG
KCVCTNPGASGPTCERCPTCGDPCNSKRSCIECHLSAAGQAREECVDKCKLAGATISEEE
DFSKDGSVSCSLQGENECLITFLITTDNEGKTIIHSINEKDCPKPPNIPMIMLGVSLAIL
LIGVVLLCIWKLLVSFHDRKEVAKFEAERSKAKWQTGTNPLYRGSTSTFKNVTYKHREKQ
KVDLSTDC

Sequence length

788

Interactions

View interactions

	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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adolescent alopeciam dentogingival abnormalitites and intellectual disability	Pathogenic	rs779692470	RCV000201256
Amelogenesis imperfecta type 1H	Pathogenic; Likely pathogenic	rs561588576, rs1683256077, rs140015315, rs730882118, rs730880297, rs730880298, rs140624114	RCV001807869 RCV001807870 RCV000157638 RCV000157639 RCV000157640 RCV000157641 RCV003152657

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2168672	RCV005918871
Cervical cancer	Benign; Likely benign	rs3755547, rs2168672, rs199924562	RCV005914575 RCV005918873 RCV005903112
Cholangiocarcinoma	Benign	rs5835793	RCV005868096
Hepatocellular carcinoma	Benign	rs5835793	RCV005868093
ITGB6-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs201700153, rs2469175358, rs201818641, rs201573869, rs562634905, rs202016962, rs113506485, rs147650138, rs188990572, rs199924562, rs754214308	RCV003938976 RCV003894713 RCV003912153 RCV003927311 RCV003944042 RCV003897932 RCV003972837 RCV003955949 RCV003910603 RCV003970509 RCV003928783
Malignant tumor of esophagus	Benign; Uncertain significance	rs3755547, rs2168672, rs756971112	RCV005914574 RCV005918872 RCV005937528
Microcephaly	Uncertain significance	rs144680666	RCV001252769
Nonpapillary renal cell carcinoma	Benign	rs5835793	RCV005868094
Ovarian cancer	Benign	rs5835793	RCV005868095
Ovarian serous cystadenocarcinoma	Benign	rs3755547, rs2168672	RCV005914576 RCV005918875
Prostate cancer	Uncertain significance	rs193920975	RCV000149009
Sarcoma	Benign	rs2168672	RCV005918874
Thymoma	Benign	rs3755547, rs2168672	RCV005914577 RCV005918876
Uterine corpus endometrial carcinoma	Benign	rs3755547	RCV005914578

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Cholangiocarcinoma	Associate	27440504, 34208313
Colonic Neoplasms	Associate	25982998
Colorectal Neoplasms	Associate	25982998, 32855767
Congenital Abnormalities	Associate	26695873
Congenital contractural arachnodactyly	Associate	34208313
Cytomegalovirus Infections	Associate	22924849
Diabetes Mellitus Type 2	Associate	20418489
Fibrosis	Associate	37589266
Infections	Associate	21239458
Inflammation	Associate	36299623
Insulin Resistance	Associate	20418489
Intellectual Disability	Associate	26695873
Lung Neoplasms	Associate	26449830
Lymphatic Metastasis	Associate	27440504
Lymphoma	Associate	34166375
Mohr Tranebjaerg syndrome	Associate	35392966
Mouth Diseases	Associate	31314805
Nasopharyngeal Carcinoma	Associate	35524442
Neoplasm Metastasis	Associate	27184932, 27440504, 34290570
Neoplasms	Associate	25982998, 27440504, 27959387, 28349782, 33838601, 34171074, 34388137, 37619980
Neoplasms	Stimulate	27184932
Ovarian Neoplasms	Associate	34289901, 35392966
Pancreatic Neoplasms	Associate	21934552, 33073486, 34290570, 34388137, 36311789, 40486509
Periodontitis	Inhibit	36299623
Pneumonia	Associate	22924849
Prostatic Neoplasms	Stimulate	24175814
Prostatitis	Associate	17438134
Radiation Pneumonitis	Associate	26449830
Squamous Cell Carcinoma of Head and Neck	Associate	25816241, 29719198
Status Asthmaticus	Inhibit	29228930
Stomach Neoplasms	Associate	35566209
Tertiary Lymphoid Structures	Associate	27184932, 34171074
Urinary Bladder Neoplasms	Associate	36357874
Uterine Cervical Neoplasms	Associate	36614304

ITGB6 (integrin subunit beta 6)