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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ITGB4 Gene

protein-coding GIFtS: 68
GCID: GC17P073717

integrin, beta 4

Explore 73 diseases affiliated with
ITGB4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Integrin, Beta 4¹ ²
CD104¹ ²
GP150² ³
CD104 Antigen² ³
Integrin Beta-4²
Integrin Beta-4 Subunit²

External Ids:	HGNC: 6158¹	Entrez Gene: 3691²	Ensembl: ENSG00000132470⁷	OMIM: 147557⁵	UniProtKB: P16144³

Export aliases for ITGB4 gene to outside databases

Previous GC identifers: GC17P073492 GC17P076743 GC17P074181 GC17P074314 GC17P071229 GC17P069141

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITGB4:

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. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that

regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins.

This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive

carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple

alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144

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

Gene Wiki entry for ITGB4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ITGB4 gene promoter:
AP-1 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ITGB4 promoter sequence

Search SABiosciences Chromatin IP Primers for ITGB4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGB4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25 Ensembl cytogenetic band: 17q25.1 HGNC cytogenetic band: 17q11-qter

ITGB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB4 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P073717: view genomic region (about GC identifiers)

Start:	73,717,408 bp from pter	End:	73,753,899 bp from pter
Size:	36,492 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144 (See protein sequence)

Recommended Name: Integrin beta-4 precursor

Size: 1822 amino acids; 202167 Da

Subunit: Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region)

with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform

beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1

Subcellular location: Membrane; Single-pass type I membrane protein. Cell junction, hemidesmosome. Note=Colocalizes

with DST at the leading edge of migrating keratinocytes

Sequence caution: Sequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Sequence=CAA37656.1; Type=Frameshift;

Positions=1414, 1429;

6/8 PDB 3D structures from and Proteopedia for ITGB4 (see all 8):

1QG3 (3D)

2YRZ (3D)

3F7P (3D)

3F7Q (3D)

3F7R (3D)

3FQ4 (3D)

Secondary accessions: A0AVL6 O14690 O14691 O15339 O15340 O15341 Q9UIQ4

Alternative splicing: 5 isoforms: P16144-1 P16144-2 P16144-3 P16144-4 P16144-5

Explore the universe of human proteins at neXtProt for ITGB4: NX_P16144

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P16144

ITGB4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000204.3 NP_001005619.1 NP_001005731.1

ENSEMBL proteins:

ENSP00000463651 ENSP00000200181 ENSP00000405536 ENSP00000400217 ENSP00000463788

ENSP00000464473 ENSP00000464259 ENSP00000462494 ENSP00000344079

Reactome Protein details: P16144
Human Recombinant Protein Products for ITGB4:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
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	GenScript Custom Purified and Recombinant Proteins Services for ITGB4
	Novus Biologicals ITGB4 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005604	basement membrane	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0008305	integrin complex	IEA	--
GO:0009925	basal plasma membrane	IEA	--
GO:0009986	cell surface	IDA	--

ITGB4 for ontologies About GeneDecksing

ITGB4 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ITGB4
	R&D Systems Antibodies for ITGB4 (Integrin beta 4/CD104)
	Cell Signaling Technology (CST) Antibodies for ITGB4
	Browse OriGene Antibodies OriGene Custom Antibody Services for ITGB4
	GenScript Custom Superior Antibodies Services for ITGB4
	Novus Biologicals ITGB4 Antibodies
	Abcam antibodies for ITGB4
	Browse Antibodies at Uscn
	ThermoFisher Antibodies for ITGB4

Assay Products for ITGB4:

	EMD Millipore Kits and Assays for the Analysis of ITGB4
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems Multiplex/Array Assay Kits & Reagents for ITGB4 (Integrin beta 4/CD104)
	GenScript Custom Assay Services for ITGB4
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ITGB4 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR003659 Plexin-like

IPR002369 Integrin_bsu_N

IPR003961 Fibronectin_type3

IPR012896 Integrin_bsu_tail

IPR016201 Plexin-like_fold

Graphical View of Domain Structure for InterPro Entry P16144

ProtoNet protein and cluster: P16144

2 Blocks protein families:

IPB001169 Integrin beta

IPB003962 Fibronectin type III repeat signature

UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144

Domain: The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230

Similarity: Belongs to the integrin beta chain family

Similarity: Contains 1 Calx-beta domain

Similarity: Contains 4 fibronectin type-III domains

Similarity: Contains 1 PSI domain

Similarity: Contains 1 VWFA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ITB4_HUMAN, P16144

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

Genatlas biochemistry entry for ITGB4:

integrin beta 4 receptor of laminins,associating with ITGA6 component of hemidesmosomes,expressed only to proliferating

basal keratinocytes in the epidermis involved in cell matrix adhesion,cell surface adhesion receptor mediating

cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the

cytoskeleton and various signaling molecules within cells,altered in agressive behavior of cancers

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0005102	receptor binding	IEA	--
GO:0005515	protein binding	IPI	--

ITGB4 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ITGB4:

Altered focal adhesion (FA) or

15 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Itgb4):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
hearing/vestibular/ear	homeostasis/metabolism	immune system	integument	mortality/aging
nervous system	renal/urinary system	respiratory system	taste/olfaction	vision/eye

ITGB4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for ITGB4: Itgb4^tm2Fgg Itgb4^tm1Efu Itgb4^tm1Fgg Itgb4^tm1.1Mfel Itgb4^tm1Son

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ITGB4

miRNA Products:		miRTarBase miRNAs that target ITGB4: hsa-mir-1 (MIRT001362)

		OriGene 3'-UTR Clone (see all 3): ITGB4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGB4
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGB4 (see all 18):
		hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-519a hsa-miR-520a-3p hsa-miR-372 hsa-miR-409-5p hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: ITGB4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITGB4 (see all 7) OriGene shRNA RFP: ITGB4 OriGene siRNA: ITGB4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGB4
		Sirion Biotech Custom design and validation of potent shRNA sequences against ITGB4

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ITGB4
			Sirion Biotech Customized adenovirus for overexpression of ITGB4 Sirion Biotech Customized adenovirus for potent knockdown of ITGB4

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB4 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB4 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ITGB4 (NM_001005731)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGB4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGB4

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ITGB4
		Search LifeMap BioReagents cell lines for ITGB4
		Sirion Biotech Customized stable knockdown cell line services for ITGB4 Sirion Biotech Customized inducible knockdown cell line services for ITGB4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Apoptotic Pathways in Synovial Fibroblasts

PPAR Pathway	0.66	Actin-Based Motility by Rho Family GTPases	0.52
Rac1 Pathway	0.58	Rap1 Pathway	0.42
Glioma Invasiveness	0.54

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			RhoA Pathway	0.35
	Actin Nucleation and Branching	0.66			CDC42 Pathway	0.34

Focal Adhesion

	Focal Adhesion	1.00			Integrin-mediated cell adhesion	0.38
	Focal adhesion	0.66			HGF Pathway	0.24

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ITGB4

Cell adhesion Endothelial cell contacts by non-junctional mechanisms

5/34 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITGB4 (see all 34)

	RhoA Pathway
	Paxillin Interactions
	Molecular Mechanisms of Cancer
	CDK5 Pathway
	Tec Kinases Signaling

1 Cell Signaling Technology (CST) Pathway for ITGB4

Adhesion

1 GeneGo (Thomson Reuters) Pathway for ITGB4

Cell adhesion Endothelial cell contacts by non-junctional mechanisms

5/7 BioSystems Pathways for ITGB4 (see all 7)

	Integrin-mediated cell adhesion
	Focal Adhesion
	Alpha6-Beta4 Integrin Signaling Pathway
	Arrhythmogenic right ventricular cardiomyopathy
	Validated transcriptional targets of AP1 family members Fra1 and Fra2

5/8 Reactome Pathways for ITGB4 (see all 8)

	Integrin cell surface interactions
	Assembly of collagen fibrils and other multimeric structures
	Collagen formation
	Extracellular matrix organization
	Signal Transduction

5/6 Kegg Pathways (Kegg details for ITGB4) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Regulation of actin cytoskeleton
	Hypertrophic cardiomyopathy (HCM)
	Arrhythmogenic right ventricular cardiomyopathy (ARVC)

ITGB4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ITGB4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/148 Interacting proteins for ITGB4 (P16144^{1, 2, 3} ENSP00000200181⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 148)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLEC	Q15149²^,³, ENSP00000323856⁴	MINT-7234231 MINT-7234308 MINT-7234276 MINT-7234245 MINT-7234341 MINT-7234186 MINT-7234259 MINT-7234326 MINT-7234292 MINT-7234199 MINT-7234217 I2D: score=2 STRING: ENSP00000323856
ARRDC3	Q96B67¹^,³, ENSP00000265138⁴	EBI-948678,EBI-2875665 I2D: score=3 STRING: ENSP00000265138
ATXN1	P54253²^,³, ENSP00000244769⁴	MINT-2860098 I2D: score=3 STRING: ENSP00000244769
ITGA6	P23229¹^,³, ENSP00000386896⁴	EBI-948678,EBI-2436548 I2D: score=2 STRING: ENSP00000386896
FLNA	P21333²^,³, ENSP00000358866⁴	MINT-51381 I2D: score=1 STRING: ENSP00000358866

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	NAS	2311577
GO:0007160	cell-matrix adhesion	IEA	--
GO:0007229	integrin-mediated signaling pathway	IEA	--
GO:0007275	multicellular organismal development	IEA	--
GO:0009611	response to wounding	IDA	19403692

ITGB4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ITGB4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ITGB4
10/12 Novoseek chemical compound relationships for ITGB4 gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
safrole oxide	81.6	5	16326105 (2), 16225864 (2), 16473419 (1)
kalinin	63.8	2	7963682 (1), 11890721 (1)
matrigel	54.5	2	9164655 (1), 15226394 (1)
tyrosine	31.3	15	16322210 (2), 20512931 (1), 11375975 (1), 12499048 (1) (see all 13)
calcipotriol	25.7	1	10809861 (1)
phosphatidylinositol	9.22	1	16740748 (1)
nitric oxide	4.38	2	16225864 (1), 16473419 (1)
calcium	1.86	2	1714931 (2)
oxygen	0	9	16225864 (2), 17067796 (1), 17964297 (1), 19362839 (1) (see all 7)
leucine	0	1	9344615 (1)

Search CenterWatch for drugs/clinical trials and news about ITGB4 / ITB4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ITGB4 gene (3 alternative transcripts):

NM_000213.3 NM_001005619.1 NM_001005731.1

Unigene Cluster for ITGB4:

Integrin, beta 4

Hs.632226 [show with all ESTs]

Unigene Representative Sequence: X53587

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000579662(uc010dgp.1) ENST00000200181(uc002jpg.3 uc002jph.3 uc002jpi.4)

ENST00000450894 ENST00000580542(uc010dgo.3 uc010wsh.1) ENST00000449880

ENST00000584558 ENST00000582629 ENST00000584374 ENST00000584025 ENST00000583327

ENST00000579211 ENST00000584939 ENST00000578318 ENST00000339591(uc002jpj.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): ITGB4 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGB4
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGB4 (see all 18):
		hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-519a hsa-miR-520a-3p hsa-miR-372 hsa-miR-409-5p hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: ITGB4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITGB4 (see all 7) OriGene shRNA RFP: ITGB4 OriGene siRNA: ITGB4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGB4
		Sirion Biotech Custom design and validation of potent shRNA sequences against ITGB4

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB4 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB4 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ITGB4 (NM_001005731)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGB4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGB4

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITGB4 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ITGB4
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITGB4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITGB4

Additional cDNA sequence:

AB208913.1 AF011375.1 AK304792.1 AK310952.1 BC109238.1 BC118916.1 BC126411.1 BC143738.1

BC143742.1 X51841.1 X52186.1 X53587.1

19 DOTS entries:

DT.92446786 DT.86821405 DT.92446788 DT.100702066 DT.100810665 DT.40117547 DT.100810664 DT.121008772

DT.100802929 DT.91921651 DT.95361422 DT.97859510 DT.100717678 DT.100810666 DT.75111638 DT.92446787

DT.95133507 DT.97859511 DT.91917254

24/417 AceView cDNA sequences (see all 417):

BU196988 BM720445 AI815094 BM700552 CD673174 AA291050 CA392771 BQ953886

BM818000 CA488217 BM764031 X51841 AI351365 CA489093 BU174735 BE858437

BX459036 BM755505 BG011042 CD672571 BU950690 CD672578 BQ786982 BM018561

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ITGB4 (see all 12) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^
SP1:
SP2:
SP3:
SP4:
SP5:																																															-

ExUns:	21a	·	21b	^	22	^	23	^	24a	·	24b	^	25a	·	25b	·	25c	^	26	^	27	^	28	^	29a	·	29b	^	30	^	31	^	32	^	33a	·	33b	·	33c	^	34	^	35	^	36a	·	36b	·	36c	^	37	^
SP1:			-																		-												-		-																-
SP2:			-																		-												-		-								-								-
SP3:			-																		-												-		-								-
SP4:
SP5:

ExUns:	38	^	39	^	40	^	41a	·	41b	^	42	^	43
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ITGB4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ITGB4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGGGGCAA

About this image

ITGB4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Intrahepatic Biliary Tree

Biliary Epithelial Cells

Liver

Placenta

Chorionic Villus

Villous Cytotrophoblast Cells

Extraembryonic Tissues, Placenta

Skeletal Muscle

Hyoid Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

See ITGB4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ITGB4

SOURCE GeneReport for Unigene cluster: Hs.632226

UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144

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

SABiosciences Expression via Pathway-Focused PCR Arrays including ITGB4:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Focal Adhesions in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ITGB4 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ITGB4¹	integrin, beta 4	70.27(n) 65.98(a)		417374 XM_003642326.1 XP_003642374.1
lizard (Anolis carolinensis)	Reptilia	ITGB4⁶	--	63(a)	1 ↔ 1	2(113711990-113756828)
zebrafish (Danio rerio)	Actinopterygii	wufb72e01²	wufb72e01	74.89(n)		322748 CF996136.1
fruit fly (Drosophila melanogaster)	Insecta	mys⁶ betaInt-nu⁶	beta[nu] integrin	30(a) 25(a)	1 ↔ many possible ortholog	X(7955680-7964270) 2L(21053033-21058044)
worm (Caenorhabditis elegans)	Secernentea	pat-3⁶	Integrin beta pat-3	33(a)	1 → many	III(3908895-3914118)

ENSEMBL Gene Tree for ITGB4 (if available)
TreeFam Gene Tree for ITGB4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ITGB4 gene

ITGB1² ENSG00000259753² ITGB2² ITGB7² ITGB3² ITGBL1² ITGB8² ITGB6²

ITGB5²

8 SIMAP similar genes for ITGB4 using alignment to 9 protein entries: ITB4_HUMAN (see all proteins):

ITGB6 ITGB8 ITGB7 ITGB3 ITGB5 ITGB2

L1CAM ITGB1

ITGB4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80338755^1,2	C	pathogenic	72667087(+)	`GCGCTA/GCAACA`	6	Y C	mis¹		0	--	--	--	--
rs113199830^1,2		--	69139466(+)	`CTCTAG/ATGGGT`	2	--	us2k¹		1		CSA	2
rs7216509^1,2	C,F,A,H	--	69139761(+)	`ACCCCT/CGCAAT`	2	--	us2k¹		11		NS EA NA WA	1310
rs74732017^1,2		--	69140873(+)	`GGGACG/CGGGAG`	2	--	us2k¹		2		CSA WA	119
rs6501833^1,2	C,A	--	69140936(+)	`GCACGG/AAGAGC`	2	--	us2k¹		4		NA WA	124
rs62088207^1,2		--	69141083(+)	`GTCCGC/TGCACC`	2	--	us2k¹		3		NA WA EA	240
rs16967275^1,2	C	--	69141218(+)	`GCGCCA/GCGGGA`	2	--	us2k¹		0	--	--	--	--
rs76285444^1,2	C,F	--	69141659(+)	`ACGCTG/ACGCAG`	2	--	int¹		1		WA	118
rs73995987^1,2	C	--	69142030(+)	`CTATGC/TGGTGC`	2	--	int¹		3		WA CSA	121
rs112049914^1,2		--	69142171(+)	`CAGGGG/CTGTGC`	2	--	int¹		1		CSA	2

HapMap Linkage Disequilibrium report for ITGB4 (73717408 - 73753899 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for ITGB4
4 CNVs: 5031 49926 30026 10519
Human Gene Mutation Database (HGMD): ITGB4

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITGB4

DNA2.0 Custom Variant and Variant Library Synthesis for ITGB4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ITGB4 for disorders           About GeneDecksing

OMIM gene information: 147557
OMIM disorders: 226730  226650  131800
UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144

Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]; also

known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with

gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable

involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by

mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the

pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa

Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB

is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin,

associated with hair and tooth abnormalities

20/73 diseases for ITGB4 (see all 73): About MalaCards

epidermolysis bullosa epidermolysis bullosa with pyloric atresia epidermolysis bullosa acquisita junctional epidermolysis bullosa

ocular cicatricial pemphigoid epidermolysis bullosa of hands and feet epidermolysis bullosa simplex cicatricial pemphigoid

spinal cord injury malignant peripheral nerve sheath tumor carcinoma aplasia cutis congenita

cervical intraepithelial neoplasia focal segmental glomerulosclerosis lichen planus kindler syndrome

oral lichen planus malignant pleural mesothelioma non-hodgkin lymphoma bullous pemphigoid

1 disease from the University of Copenhagen DISEASES database for ITGB4:

Epidermolysis bullosa

10/59 Novoseek disease relationships for ITGB4 gene (see all 59) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyloric atresia	93.2	28	9546354 (3), 18779879 (2), 9194858 (2), 8832392 (2) (see all 18)
eb-pa	88.6	6	9422533 (1), 9892956 (1), 15654962 (1), 9792864 (1) (see all 5)
epidermolysis bullosa junctional	87.5	16	18779879 (2), 10792571 (1), 10397589 (1), 7545057 (1) (see all 14)
pemphigoid bullous	83.7	26	8408921 (2), 1401998 (2), 11899157 (1), 9087447 (1) (see all 20)
epidermolysis bullosa	80.6	16	9546354 (3), 8712842 (2), 15009117 (2), 9422533 (1) (see all 11)
lethal junctional epidermolysis bullosa	74.2	1	15491419 (1)
ocular cicatricial pemphigoid	72	6	10476794 (2), 11157870 (1), 16810295 (1), 17524068 (1)
pemphigoid cicatricial	66.1	2	11899157 (1), 16810295 (1)
kindler syndrome	64.9	1	19762710 (1)
breast carcinoma	46.6	7	11170153 (2), 15492261 (1), 1383121 (1), 7544798 (1) (see all 5)

GeneTests: ITGB4

Epidermolysis Bullosa with Pyloric Atresia

Human Genome Epidemiology (HuGE) Navigator: ITGB4 (6 documents)

Export disorders for ITGB4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ITGB4 gene, integrated from 9 sources (see all 377):
(articles sorted by number of sources associating them with ITGB4)

Utopia: connect your pdf to the dynamic
world of online information

Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population. (PubMed id 11289717)^{1, 2, 9} Hirano A....Emi M. (2001)
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. (PubMed id 9792864)^{1, 2, 9} Pulkkinen L.... Uitto J. (1998)
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4). (PubMed id 9422533)^{1, 2, 9} Pulkkinen L.... Uitto J. (1998)
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. (PubMed id 11328943)^{1, 2, 9} Nakano A.... Uitto J. (2001)
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. (PubMed id 10873890)^{1, 2, 9} Kambham N.... D'Agati V.D. (2000)
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. (PubMed id 9194858)^{1, 2, 9} Pulkkinen L.... Uitto J. (1997)
The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression. (PubMed id 11375975)^{1, 2, 9} Favre B.... Borradori L. (2001)
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. (PubMed id 9892956)^{1, 2, 9} Mellerio J.E.... Eady R.A.J. (1998)
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. (PubMed id 9546354)^{1, 2, 9} Pulkkinen L.... Uitto J. (1998)
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. (PubMed id 11251584)^{1, 2, 9} Ashton G.H.S....McGrath J.A. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3691	HGNC: 6158	AceView: ITGB4	Ensembl:ENSG00000132470	euGenes: HUgn3691
ECgene: ITGB4	Kegg: 3691	H-InvDB: ITGB4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ITGB4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ITGB4	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB4

Intellectual Property for ITGB4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ITGB4 gene:
Search GeneIP for patents involving ITGB4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Gastric Cancer
Pemphigoid Bullous
BREAST CARCINOMA
Melanoma
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EB-PA
Glioma
Epidermolysis Bullosa with Pyloric Atresia
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integrin, beta 4

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