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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3691
Gene name Gene Name - the full gene name approved by the HGNC.	Integrin subunit beta 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ITGB4
Synonyms (NCBI Gene) Gene synonyms aliases	CD104, GP150, JEB5A, JEB5B
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities.

Show/Hide all(23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338755	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs121912461	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121912462	C>A,T	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs121912463	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs121912464	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs121912465	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121912466	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912467	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs121912468	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs145976111	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147222357	G>A,T	Pathogenic	Splice donor variant
rs148770294	C>A,G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs752657203	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs758551913	A>G	Likely-pathogenic	Splice acceptor variant
rs762236241	T>C	Likely-pathogenic	Splice donor variant
rs772142634	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs794726676	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886041205	->T	Pathogenic	Splice donor variant
rs1064795468	AGGGCCCTGGCTCA>-	Likely-pathogenic	Intron variant
rs1178371226	AG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1480399395	CGGCGCTGCAACACCCAGGCGGAGCTGCTGGCC>-	Pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant
rs1568366397	C>A	Pathogenic	Coding sequence variant, stop gained
rs1568385656	TGGC>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant

Show/Hide all(29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001362	hsa-miR-1-3p	pSILAC	18668040
MIRT018576	hsa-miR-335-5p	Microarray	18185580
MIRT020864	hsa-miR-155-5p	Proteomics	18668040
MIRT001362	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT028554	hsa-miR-30a-5p	Proteomics	18668040
MIRT031876	hsa-miR-16-5p	Proteomics	18668040
MIRT756455	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36995683
MIRT1074155	hsa-miR-184	CLIP-seq
MIRT1074156	hsa-miR-1915	CLIP-seq
MIRT1074157	hsa-miR-205	CLIP-seq
MIRT1074158	hsa-miR-3127-3p	CLIP-seq
MIRT1074159	hsa-miR-3194-3p	CLIP-seq
MIRT1074160	hsa-miR-3200-3p	CLIP-seq
MIRT1074161	hsa-miR-3943	CLIP-seq
MIRT1074162	hsa-miR-4313	CLIP-seq
MIRT1074163	hsa-miR-4323	CLIP-seq
MIRT1074164	hsa-miR-4726-3p	CLIP-seq
MIRT1074165	hsa-miR-4768-3p	CLIP-seq
MIRT1074166	hsa-miR-665	CLIP-seq
MIRT1550311	hsa-miR-1207-5p	CLIP-seq
MIRT1550312	hsa-miR-1908	CLIP-seq
MIRT1550313	hsa-miR-3151	CLIP-seq
MIRT1550314	hsa-miR-4648	CLIP-seq
MIRT1550315	hsa-miR-4651	CLIP-seq
MIRT1550316	hsa-miR-4763-3p	CLIP-seq
MIRT1550317	hsa-miR-4787-5p	CLIP-seq
MIRT1550318	hsa-miR-486-3p	CLIP-seq
MIRT1550319	hsa-miR-608	CLIP-seq
MIRT1550320	hsa-miR-663	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
ZEB1	Unknown	20729552

Show/Hide all(56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IPI	24851274
GO:0005178	Function	Integrin binding	IBA
GO:0005515	Function	Protein binding	IPI	2649503, 10811835, 11375975, 12482924, 19242489, 19403692, 20603614, 21880726, 24007983, 24851274, 25703379, 27178753, 32296183, 33961781, 35657344
GO:0005604	Component	Basement membrane	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005886	Component	Plasma membrane	IDA	21310825, 24851274
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IBA
GO:0006914	Process	Autophagy	IMP	24007983
GO:0007154	Process	Cell communication	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	2311577
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IMP	23496044
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	IEA
GO:0008305	Component	Integrin complex	TAS	7545057
GO:0009611	Process	Response to wounding	IDA	19403692
GO:0009925	Component	Basal plasma membrane	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	19933311, 21310825
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	IEA
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030056	Component	Hemidesmosome	IEA
GO:0031252	Component	Cell leading edge	IDA	19403692
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0031581	Process	Hemidesmosome assembly	IEA
GO:0031581	Process	Hemidesmosome assembly	IMP	23496044
GO:0031965	Component	Nuclear membrane	IDA
GO:0031994	Function	Insulin-like growth factor I binding	IDA	22351760
GO:0032290	Process	Peripheral nervous system myelin formation	IEA
GO:0033627	Process	Cell adhesion mediated by integrin	IBA
GO:0035878	Process	Nail development	IMP	23496044
GO:0038132	Function	Neuregulin binding	IDA	20682778
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	IEA
GO:0043589	Process	Skin morphogenesis	IMP	23496044
GO:0046847	Process	Filopodium assembly	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEP	23154389
GO:0048870	Process	Cell motility	IEA
GO:0048870	Process	Cell motility	IMP	19403692
GO:0061450	Process	Trophoblast cell migration	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

MIM	HGNC	e!Ensembl
147557	6158	ENSG00000132470

Protein

UniProt ID

P16144

Protein name

Integrin beta-4 (GP150) (CD antigen CD104)

Protein function

Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and th

PDB

1QG3 , 2YRZ , 3F7P , 3F7Q , 3F7R , 3FQ4 , 3FSO , 3H6A , 4Q58 , 4WTW , 4WTX , 6GVK , 6GVL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17205	PSI_integrin	28 → 73	Integrin plexin domain	Domain
PF00362	Integrin_beta	125 → 370	Integrin beta chain VWA domain	Domain
PF18372	I-EGF_1	457 → 485	Integrin beta epidermal growth factor like domain 1	Domain
PF07974	EGF_2	543 → 573	EGF-like domain	Domain
PF07965	Integrin_B_tail	626 → 710	Integrin beta tail domain	Domain
PF03160	Calx-beta	979 → 1084	Calx-beta domain	Domain
PF00041	fn3	1128 → 1208	Fibronectin type III domain	Domain
PF00041	fn3	1221 → 1310	Fibronectin type III domain	Domain
PF00041	fn3	1529 → 1612	Fibronectin type III domain	Domain
PF00041	fn3	1642 → 1728	Fibronectin type III domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.

Sequence

MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRR
CNTQAELLAAGCQRESIVVMESSFQITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFEL
EVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVDKVSV
PQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQGERISGNLDAPEGGFDAIL
QTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYR
TQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLE
EAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDG
THVCQLPEDQKGNIHLKPSFSDGLKMDAGIICDVCTCELQKEVRSARCSFNGDFVCGQCV
CSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVCYGEGRYEGQFCEYDN
FQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGR
CHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDE
LKRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLL
LLPLLALLLLLCWKYCACCKACLALLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLR
SGNLKGRDVVRWKVTNNMQRPGFATHAASINPTELVPYGLSLRLARLCTENLLKPDTREC
AQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLK
LTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQL
LVEAIDVPAGTATLGRRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGG
KSQVSYRTQDGTAQGNRDYIPVEGELLFQPGEAWKELQVKLLELQEVDSLLRGRQVRRFH
VQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGS
RKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYG
AQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLV
NDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQP
KRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLG
EELDLRRVTWRLPPELIPRLSASSGRSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGE
HLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEH
SHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGY
SVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIES
QVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEM
AQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGG
PFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEF
VSRTLTTSGTLSTHMDQQFFQT

Sequence length

1822

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		Assembly of collagen fibrils and other multimeric structures Laminin interactions Syndecan interactions Type I hemidesmosome assembly

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Epidermolysis Bullosa	Epidermolysis bullosa, junctional 5A, intermediate	rs752657203, rs121912466	N/A
Junctional Epidermolysis Bullosa	junctional epidermolysis bullosa	rs121912468, rs121912467	N/A
Junctional Epidermolysis Bullosa With Pyloric Atresia	junctional epidermolysis bullosa with pyloric atresia	rs121912461, rs121912468, rs121912462, rs80338755, rs758551913, rs121912463, rs886041205, rs147222357, rs121912464, rs752657203, rs121912465, rs772142634, rs1434530468, rs545619665, rs121912467, rs794726676 View all (1 more)	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
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.
Aplasia Cutis Congenita	aplasia cutis congenita	N/A	N/A	GenCC
Epidermolysis Bullosa Simplex	epidermolysis bullosa simplex 5C, with pyloric atresia, epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1C, localized, epidermolysis bullosa simplex	N/A	N/A	GenCC, ClinVar
Multiple Sclerosis	multiple sclerosis	N/A	N/A	ClinVar
Nephrotic Syndrome	nephrotic syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (69)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Lung Injury	Associate	20512931
Adenocarcinoma	Stimulate	16489176
Adenocarcinoma of Lung	Associate	18959757, 32549766, 35029906, 35783192
Adenocarcinoma of Lung	Stimulate	38131229
Adenoma	Associate	34545326
Alzheimer Disease	Associate	37549144
Androgen Insensitivity Syndrome	Associate	25313366
Asthma	Inhibit	20705595, 24740264
Asthma	Associate	22545078, 24740264, 35958591
Bipolar Disorder	Associate	29526452
Breast Neoplasms	Associate	22673183, 26319120, 26845172, 27763564, 34036687, 37811629, 38250718
Carcinogenesis	Associate	31242404, 37371594
Carcinoma Ductal Breast	Associate	26319120
Carcinoma Hepatocellular	Associate	35657344
Carcinoma Hepatocellular	Stimulate	37603520
Carcinoma Non Small Cell Lung	Associate	27107458
Carcinoma Pancreatic Ductal	Associate	25599535
Carcinoma Renal Cell	Associate	35305660
Carcinoma Squamous Cell	Stimulate	16489176, 27107458
Cartilage Diseases	Associate	9741315
Cholangitis	Associate	34545326
Colitis Ulcerative	Associate	34545326
Colitis Ulcerative	Stimulate	34545326
Colorectal Neoplasms	Associate	19586553, 24149370, 30358171, 34361106, 35112314
Colorectal Neoplasms	Stimulate	34414684
Diabetes Gestational	Associate	38093364
Drug Hypersensitivity	Associate	22545078
Endometrial Neoplasms	Associate	37737665
Epidermolysis Bullosa	Associate	20443817, 33921969, 36578049, 9546354
Epidermolysis Bullosa Junctional	Associate	34046686, 35921091
Epidermolysis Bullosa Pruriginosa	Associate	36578049
Epidermolysis Bullosa Simplex	Associate	12485428
Epidermolysis bullosa with pyloric atresia	Associate	15654962, 15912478, 39322060, 9182827, 9422533, 9792864
Esophageal Squamous Cell Carcinoma	Associate	31345182, 38320632
Glioblastoma	Associate	22496621, 24265816
Glioma	Stimulate	38172503
Glomerulosclerosis Focal Segmental	Associate	29138824
Infections	Inhibit	35958591
Inflammation	Inhibit	20512931
Inflammation	Associate	22545078
Leukemia Myeloid	Associate	3118989
Lung Injury	Associate	20512931
Lung Neoplasms	Associate	18959757, 8080732
Lung Neoplasms	Stimulate	38131229
Lymphatic Metastasis	Associate	25472585
Lymphatic Metastasis	Stimulate	25599535
Malignant mesenchymal tumor	Associate	28270621
Neoplasm Invasiveness	Stimulate	27107458
Neoplasm Metastasis	Associate	24006899, 37371594
Neoplasm Metastasis	Stimulate	35305660, 36076232
Neoplasms	Associate	24149370, 24885350, 25945837, 28270621, 30114689, 30358171, 31048929, 33545567, 34361106, 35112314, 35305660, 37371594, 38172503
Neoplasms	Stimulate	36076232
Neuroblastoma	Associate	29526452
Neurofibrosarcoma	Associate	15255999
Non Muscle Invasive Bladder Neoplasms	Associate	30114689
Ovarian Neoplasms	Associate	26223322, 29218693, 32878513
Pancreatic Neoplasms	Associate	22275185, 31242404, 33073486, 36311789
Pancreatitis	Associate	31242404
Prostatic Neoplasms	Associate	20021671, 20729552
Pyloric Atresia	Associate	39322060, 9546354
Schizophrenia	Associate	29526452
Sepsis	Associate	15912478, 30280950
Squamous Cell Carcinoma of Head and Neck	Associate	18224668, 24006899, 25945837, 33545567, 36076232, 37371594
Status Asthmaticus	Associate	22545078
Stomach Neoplasms	Associate	25472585, 30361615
Systemic Inflammatory Response Syndrome	Associate	20512931
Thyroid Cancer Papillary	Associate	40157360
Triple Negative Breast Neoplasms	Associate	28270621
Urinary Bladder Neoplasms	Associate	34402716

ITGB4 (integrin subunit beta 4)