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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ITGA6 Gene

protein-coding GIFtS: 68
GCID: GC02P173256

integrin, alpha 6

Explore 84 diseases affiliated with
ITGA6 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, Alpha 6¹ ²		ITGA6B²
CD49f¹ ²		Integrin Alpha-6²
VLA-6² ³		Integrin Alpha6B²
CD49 Antigen-Like Family Member F² ³		CD49f Antigen³

External Ids:	HGNC: 6142¹	Entrez Gene: 3655²	Ensembl: ENSG00000091409⁷	OMIM: 147556⁵	UniProtKB: P23229³

Export aliases for ITGA6 gene to outside databases

Previous GC identifers: GC02P171344 GC02P171953 GC02P173494 GC02P173117 GC02P173000 GC02P165170

(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 ITGA6:

The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of

an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins.

For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin

VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript

variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229

Function: Integrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor for

laminin in epithelial cells and it plays a critical structural role in the hemidesmosome

Gene Wiki entry for ITGA6

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ITGA6 gene promoter:
Max1 p53 AP-1 ATF-2 MyoD FOXO4 c-Jun c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ITGA6 promoter sequence

Search SABiosciences Chromatin IP Primers for ITGA6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGA6

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

Entrez Gene cytogenetic band: 2q31.1 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q31.1

ITGA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGA6 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P173256: view genomic region (about GC identifiers)

Start:	173,292,082 bp from pter	End:	173,371,181 bp from pter
Size:	79,100 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: ITA6_HUMAN, P23229 (See protein sequence)

Recommended Name: Integrin alpha-6 precursor

Size: 1130 amino acids; 126633 Da

Subunit: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked

by a disulfide bond. Alpha-6 associates with either beta-1 or beta-4. Interacts with HPS5. Interacts with RAB21

Subcellular location: Cell membrane; Single-pass type I membrane protein

Sequence caution: Sequence=BAG57680.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: B2RMU9 B4DG69 B4DKB8 C4AM96 Q08443 Q0MRC7 Q14646 Q16508 Q53RX7 Q59HB7 Q86VL6

Q9UCT1 Q9UN03

Alternative splicing: 8 isoforms: P23229-1 P23229-2 P23229-3 P23229-4 P23229-5 P23229-6 P23229-7 P23229-9

(Contains a phosphoserine at position 1103)

Explore the universe of human proteins at neXtProt for ITGA6: NX_P23229

Post-translational modifications:

Isoforms containing segment A, but not segment B, are the major targets for PMA-induced phosphorylation.

Phosphorylation occurs on 'Ser-1103' of isoform alpha-6X1X2A. Phosphorylation is not required for the induction of

integrin alpha-6A/beta-1 high affinity but may reduce the affinity for ligand¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23229

ITGA6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000201.2 NP_001073286.1

ENSEMBL proteins:

ENSP00000413470 ENSP00000386614 ENSP00000264107 ENSP00000406694 ENSP00000394169

ENSP00000386896 ENSP00000388435 ENSP00000264106 ENSP00000364369 ENSP00000341078

Reactome Protein details: P23229
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for ITGA6 (Integrin alpha 6 beta 4)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: ITGA6 OriGene Protein Over-expression Lysate: ITGA6 OriGene Custom Protein Services for ITGA6
	GenScript Custom Purified and Recombinant Proteins Services for ITGA6
	Novus Biologicals ITGA6 Proteins Novus Biologicals ITGA6 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005604	basement membrane	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005913	cell-cell adherens junction	--	--
GO:0008305	integrin complex	IEA	--
GO:0009897	external side of plasma membrane	--	--

ITGA6 for ontologies About GeneDecksing

ITGA6 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ITGA6
	R&D Systems Antibodies for ITGA6 (Integrin alpha 6/CD49f)
	Cell Signaling Technology (CST) Antibodies for ITGA6
	OriGene Antibodies (see all 2): ITGA6 OriGene Custom Antibody Services for ITGA6
	GenScript Custom Superior Antibodies Services for ITGA6
	Novus Biologicals ITGA6 Antibodies
	Abcam antibodies for ITGA6
	Browse Antibodies at Uscn
	ThermoFisher Antibody for ITGA6

Assay Products for ITGA6:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems Multiplex/Array Assay Kits & Reagents for ITGA6 (Integrin alpha 6/CD49f)
	GenScript Custom Assay Services for ITGA6
	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

ITGA6 for domains About GeneDecksing

4 InterPro domains/families:

IPR000413 Integrin_alpha

IPR013519 Int_alpha_beta-p

IPR018184 Integrin_alpha_C_CS

IPR013649 Integrin_alpha-2

Graphical View of Domain Structure for InterPro Entry P23229

ProtoNet protein and cluster: P23229

3 Blocks protein families:

IPB000413 Integrins alpha chain

IPB013513 Integrin alpha chain

IPB013517 FG-GAP

UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229

Similarity: Belongs to the integrin alpha chain family

Similarity: Contains 7 FG-GAP repeats

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

Function Summary:

UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229

Function: Integrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor for

laminin in epithelial cells and it plays a critical structural role in the hemidesmosome

Genatlas biochemistry entry for ITGA6:

integrin,alpha 6 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,component of VLA-6 receptor and of hemidesmosomes,mediating cell-extracellular matrix interactions also involved

in the fertilization of ova and embryonic development,dimerizing with ITGB1 (laminin receptor) or ITGB4 (component of

hemidesmosome)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ITGA6 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGA6
		8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGA6 (see all 53):
		hsa-miR-3164 hsa-miR-300 hsa-miR-199a-3p hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-105 hsa-miR-4275

		SwitchGear 3'UTR luciferase reporter plasmid: ITGA6 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 ITGA6 (see all 4) OriGene shRNA RFP: ITGA6 OriGene siRNA: ITGA6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGA6

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ITGA6

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 ITGA6 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITGA6 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ITGA6 (NM_001079818)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGA6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGA6

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ITGA6
		Search LifeMap BioReagents cell lines for ITGA6

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGA6

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005178	integrin binding	--	--
GO:0005515	protein binding	IPI	--
GO:0032403	protein complex binding	--	--
GO:0043236	laminin binding	--	--

ITGA6 for ontologies About GeneDecksing

5 GenomeRNAi human phenotypes for ITGA6:

Decreased focal adhesion (FA)	Increased S DNA content	Increased cell number in G1, s	Increased cilium length after
S arrest

Animal Models:
Mouse knock-out Itga6^tm1Egl for ITGA6
15/19 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Itga6) (see all 19):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system	immune system
integument	limbs/digits/tail	mortality/aging	nervous system	other

ITGA6 for phenotypes About GeneDecksing

(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 - 5/39 super-pathways (see all 39) 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

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

Rho Family GTPases

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

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 ITGA6

Cell adhesion Endothelial cell contacts by non-junctional mechanisms

5/33 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITGA6 (see all 33)

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

2 Cell Signaling Technology (CST) Pathways for ITGA6

	Angiogenesis
	Adhesion

1 GeneGo (Thomson Reuters) Pathway for ITGA6

Cell adhesion Endothelial cell contacts by non-junctional mechanisms

5/8 BioSystems Pathways for ITGA6 (see all 8)

	Integrin-mediated cell adhesion
	Focal Adhesion
	Alpha6-Beta4 Integrin Signaling Pathway
	Arrhythmogenic right ventricular cardiomyopathy
	CXCR4-mediated signaling events

5/11 Reactome Pathways for ITGA6 (see all 11)

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

5/11 Kegg Pathways (Kegg details for ITGA6) (see all 11):

	Focal adhesion
	ECM-receptor interaction
	Cell adhesion molecules (CAMs)
	Hematopoietic cell lineage
	Regulation of actin cytoskeleton

ITGA6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ITGA6

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

5/162 Interacting proteins for ITGA6 (P23229^{1, 2, 3} ENSP00000386896⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 162)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CD63	P08962²^,³, ENSP00000257857⁴	MINT-8407185 I2D: score=2 STRING: ENSP00000257857
ITGB4	P16144¹^,³, ENSP00000200181⁴	EBI-2436548,EBI-948678 I2D: score=2 STRING: ENSP00000200181
PDIA3	P30101²^,³	MINT-4301321 I2D: score=1
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007044	cell-substrate junction assembly	TAS	9185503
GO:0007155	cell adhesion	IEA	--
GO:0007160	cell-matrix adhesion	--	--
GO:0007229	integrin-mediated signaling pathway	IEA	--
GO:0007596	blood coagulation	TAS	--

ITGA6 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

ITGA6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ITGA6
10/18 Novoseek chemical compound relationships for ITGA6 gene (see all 18) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	76.2	3	17129354 (1), 8705822 (1), 7551559 (1)
sikvav	63	2	17591960 (1), 17235355 (1)
matrigel	57.5	5	12356873 (1), 1280276 (1), 16154099 (1), 19405119 (1) (see all 5)
yigsr	54.2	1	8035652 (1)
hpvs	25.6	1	16376962 (1)
retinoic acid	21.6	7	8704182 (3), 17379860 (1), 16261612 (1), 8609714 (1) (see all 5)
heparan sulfate	15	3	16376962 (2)
herbimycin a	13.1	1	9358755 (1)
retinoid	4.27	1	9024307 (1)
agarose	0	1	8929432 (1)

Search CenterWatch for drugs/clinical trials and news about ITGA6 / ITA6

(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, 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 ITGA6 gene (2 alternative transcripts):

NM_000210.2 NM_001079818.1

Unigene Cluster for ITGA6:

Integrin, alpha 6

Hs.133397 [show with all ESTs]

Unigene Representative Sequence: NM_000210

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

ENST00000412899 ENST00000409532 ENST00000264107 ENST00000442250(uc010fql.2 uc010fqk.1)

ENST00000458358 ENST00000409080 ENST00000497107 ENST00000416789 ENST00000469534

ENST00000470259 ENST00000475302 ENST00000264106(uc002uhp.1) ENST00000375221(uc002uho.1)

ENST00000343713(uc010zdy.1 uc010fqm.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ITGA6 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGA6
		8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGA6 (see all 53):
		hsa-miR-3164 hsa-miR-300 hsa-miR-199a-3p hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-105 hsa-miR-4275

		SwitchGear 3'UTR luciferase reporter plasmid: ITGA6 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 ITGA6 (see all 4) OriGene shRNA RFP: ITGA6 OriGene siRNA: ITGA6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGA6

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITGA6 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITGA6 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ITGA6 (NM_001079818)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGA6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGA6

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITGA6 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ITGA6
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITGA6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITGA6

Additional cDNA sequence:

AB208842.1 AF401206.1 AK294436.1 AK296496.1 AK307777.1 AK311695.1 BC007002.1 BC050585.1

BC136455.1 BC136456.1 DQ858220.1 EF491782.1 EF491790.1 EF491812.1 S66196.1 S66213.1

X53586.1 X59512.1

16 DOTS entries:

DT.100797201 DT.95166149 DT.65285734 DT.449080 DT.120966874 DT.95360545 DT.92449387 DT.86852253

DT.120966835 DT.100797203 DT.120966832 DT.100797199 DT.40249838 DT.120966784 DT.418472 DT.95166144

24/359 AceView cDNA sequences (see all 359):

BP354305 AI921227 BU633378 AA373973 AI478635 AW590978 AA353560 AW337209

BU619964 BU620869 BU729088 BM550774 CD652460 AW516434 BM713014 AA814514

BQ881383 CB122693 CB134079 BU742227 AA344846 AI769469 BG290713 BC050585

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ITGA6 (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	^	19	^	20a	·	20b	·	20c	^	21a	·
SP1:																																																	-		-
SP2:																																																	-		-
SP3:																																															-		-		-
SP4:
SP5:

ExUns:	21b	^	22a	·	22b	^	23a	·	23b	^	24	^	25a	·	25b	^	26a	·	26b
SP1:									-
SP2:									-				-		-
SP3:									-
SP4:									-
SP5:

ECgene alternative splicing isoforms for ITGA6

(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

ITGA6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTAGAAATT

About this image

ITGA6 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/19 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 19)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Amnion

Amniotic Membrane

Amniotic Cells

Amnion, Extraembryonic Tissues

Cartilage

Cervical Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Lumbar Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Sacral Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Thoracic Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Early Embryo (Zygote)

Morula

8-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Morula

Morula Cells

Early Embryo

Early Embryo (Zygote)

Zygote

2-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Zygote

4-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Zygote

Early Embryo

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

HSF-1 (UC01) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Hepatocyte-like cells (Functional hepatocyt...)

Posterior foregut-like cells (A scalable, suspensi...)

See ITGA6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ITGA6

SOURCE GeneReport for Unigene cluster: Hs.133397

UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229

Tissue specificity: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoforms containing segment X1 are

ubiquitously expressed. Isoforms containing segment X1X2 are expressed in heart, kidney, placenta, colon, duodenum,

myoblasts and myotubes, and in a limited number of cell lines; they are always coexpressed with the ubiquitous isoform

containing segment X1. In some tissues (e.g. Salivary gland), isoforms containing cytoplasmic segment A and isoforms

containing segment B are detected while in others, only isoforms containing one cytoplasmic segment are found (segment

A in epidermis and segment B in kidney)

SABiosciences Expression via Pathway-Focused PCR Arrays including ITGA6:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Wound Healing in human mouse rat

Mesenchymal Stem Cell in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Focal Adhesions in human mouse rat

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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 ITGA6 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ITGA6¹	integrin, alpha 6	72.59(n) 72.36(a)		396226 NM_205289.1 NP_990620.1
lizard (Anolis carolinensis)	Reptilia	ITGA6⁶	--	63(a)	1 ↔ 1	GL343353.1(149469-193841)
African clawed frog (Xenopus laevis)	Amphibia	INTA6²	integrin alpha 6 subunit	75.99(n)		L35051.1
zebrafish (Danio rerio)	Actinopterygii	itga6a¹	integrin, alpha 6a	63.48(n) 64.55(a)		503893 NM_001144781.1 NP_001138253.1
fruit fly (Drosophila melanogaster)	Insecta	mew³	wing morphogenesis cell adhesion receptor	29(a) (best of 2)		--
worm (Caenorhabditis elegans)	Secernentea	ina-1³	Integrin alpha chain	27(a)		III(9240086-9244462) --

ENSEMBL Gene Tree for ITGA6 (if available)
TreeFam Gene Tree for ITGA6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ITGA6 gene

ITGA1² ITGA3² ITGA7² ITGA8² ITGAM² ITGA11² ITGA2² ITGA5²

ITGAE² ITGAD² ITGA2B² ITGAV² ITGAX² ITGAL² ITGA9² ITGA4²

ITGA10²

6 SIMAP similar genes for ITGA6 using alignment to 6 protein entries: ITA6_HUMAN (see all proteins):

ITGA7 variant protein ITGA7 ITGA2B ITGA3 ITGA9 ITGA4

ITGA6 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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150562484^1,2	C,	unknown	165186134(+)	`ACCCTC/TGTGTC`	2	--	int¹		0	--	--	--	--
rs73023472^1,2	C,	--	165169268(+)	`TTCACG/ACAGCT`	2	--	us2k¹		2		WA	120
rs111718021^1,2		--	165169742(+)	`TAGTGA/GTTACT`	2	--	us2k¹		2		CSA WA	120
rs73023476^1,2	C,	--	165169832(+)	`TTGGTG/TAAAAT`	2	--	us2k¹		2		WA	120
rs79603749^1,2		--	165170306(+)	`GCTGTG/TATCAT`	2	--	us2k¹		0	--	--	--	--
rs73976793^1,2	C,	--	165170508(+)	`TCTTTG/ATAACG`	2	--	us2k¹		1		WA	2
rs3115747^1,2	C,H	--	165171267(+)	`GAGTAG/TTTGGC`	2	--	int¹		2		NS NA	182
rs76242225^1,2	F,	--	165171549(+)	`TCAGGG/TTCACC`	2	--	int¹		1		NA	120
rs58343482^1,2	F,	--	165171590(+)	`AGTTCC/TAGGAT`	2	--	int¹		1		EA	120
rs12475252^1,2	C,A,H	--	165171599(+)	`ATGGTC/TTAGGC`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ITGA6 (173292082 - 173371181 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ITGA6: --
Human Gene Mutation Database (HGMD): ITGA6

SABiosciences Cancer Mutation PCR Assays

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(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

ITGA6 for disorders           About GeneDecksing

OMIM gene information: 147556
OMIM disorders: 226730
UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229

Defects in ITGA6 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

20/84 diseases for ITGA6 (see all 84): About MalaCards

epidermolysis bullosa, junctional, with pyloric stenosis epidermolysis bullosa junctional epidermolysis bullosa ocular cicatricial pemphigoid

cicatricial pemphigoid epidermolysis bullosa with pyloric atresia pyloric stenosis aplasia cutis congenita

gastrointestinal stromal tumor vernal keratoconjunctivitis bullous pemphigoid bullous skin disease

cutaneous malignant melanoma duodenal atresia adenoid cystic carcinoma oral squamous cell carcinoma

keratoconjunctivitis squamous cell carcinoma polycystic kidney disease pancreatic ductal adenocarcinoma

2 diseases from the University of Copenhagen DISEASES database for ITGA6:

Epidermolysis bullosa Bullous pemphigoid

10/51 Novoseek disease relationships for ITGA6 gene (see all 51) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyloric atresia	88.4	7	14675179 (2), 18779879 (1), 9546354 (1), 18955862 (1) (see all 6)
epidermolysis bullosa junctional	82.9	6	18779879 (1), 9158140 (1), 9804362 (1), 14675179 (1) (see all 6)
eb-pa	81.3	2	9892956 (1), 11328943 (1)
lethal junctional epidermolysis bullosa	73.1	1	14675179 (1)
pemphigoid bullous	71.3	17	11669480 (2), 16126949 (2), 9205513 (1), 9389789 (1) (see all 14)
epidermolysis bullosa	69.5	10	8712842 (3), 9742403 (1), 9546354 (1), 1694890 (1) (see all 6)
pemphigoid cicatricial	61.4	1	16810295 (1)
ocular cicatricial pemphigoid	41	1	16810295 (1)
metastasis	37.9	22	15679046 (4), 8105045 (4), 7681030 (2), 10048983 (1) (see all 13)
tumors	35.3	50	7586806 (4), 7681030 (2), 8344495 (2), 10717240 (2) (see all 28)

GeneTests: ITGA6

Epidermolysis Bullosa with Pyloric Atresia

Human Genome Epidemiology (HuGE) Navigator: ITGA6 (11 documents)

Export disorders for ITGA6 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 ITGA6 gene, integrated from 9 sources (see all 426):
(articles sorted by number of sources associating them with ITGA6)

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

Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)^{1, 2} Lewandrowski U.... Sickmann A. (2006)
An alternatively spliced exon in the extracellular domain of the human alpha 6 integrin subunit -- functional analysis of the alpha 6 integrin variants. (PubMed id 7583007)^{1, 2} Delwel G.O.... Sonnenberg A. (1995)
The role of phosphorylation in activation of the alpha 6A beta 1 laminin receptor. (PubMed id 8360143)^{1, 2} Hogervorst F.... Sonnenberg A. (1993)
Alternative extracellular and cytoplasmic domains of the integrin alpha 7 subunit are differentially expressed during development. (PubMed id 8253814)^{1, 2} Ziober B.L.... Kramer R.H. (1993)
Inside-out integrin signaling in macrophages. Analysis of the role of the alpha 6A beta 1 and alpha 6B beta 1 integrin variants in laminin adhesion by cDNA expression in an alpha 6 integrin-deficient macrophage cell line. (PubMed id 8496190)^{1, 2} Shaw L.M.... Mercurio A.M. (1993)
Biochemical characterization and tissue distribution of the A and B variants of the integrin alpha 6 subunit. (PubMed id 7681434)^{1, 2} Hogervorst F.... Sonnenberg A. (1993)
An efficient and reliable method for cloning PCR-amplification products: a survey of point mutations in integrin cDNA. (PubMed id 1476731)^{1, 2} Starr L. and Quaranta V. (1992)
Molecular cloning of the human alpha 6 integrin subunit. Alternative splicing of alpha 6 mRNA and chromosomal localization of the alpha 6 and beta 4 genes. (PubMed id 2070796)^{1, 2} Hogervorst F.... Sonnenberg A. (1991)
Cell type-specific integrin variants with alternative alpha chain cytoplasmic domains. (PubMed id 1946438)^{1, 2} Tamura R.N.... Quaranta V. (1991)
Epithelial integrin alpha 6 beta 4: complete primary structure of alpha 6 and variant forms of beta 4. (PubMed id 1976638)^{1, 2} Tamura R.N.... Quaranta V. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 3655	HGNC: 6142	AceView: ITGA6	Ensembl:ENSG00000091409	euGenes: HUgn3655
ECgene: ITGA6	Kegg: 3655	H-InvDB: ITGA6

(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 ITGA6	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ITGA6	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGA6

Intellectual Property for ITGA6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ITGA6 gene:
Search GeneIP for patents involving ITGA6

GeneCards and IP:
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integrin, alpha 6

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Gastric Cancer
Pemphigoid Bullous
BREAST CARCINOMA
Melanoma
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bladder cancer
EB-PA
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dysplasia
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ITGA6 Gene

integrin, alpha 6

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