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ITGA6 Gene

protein-coding GIFtS: 72

GC02P173000

integrin, alpha 6
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
CD49f ^¹, ²
DKFZp686J01244 ^²
FLJ18737 ^²
ITGA6B ^²
VLA-6 ^², ³

Descriptions
CD49 antigen-like family member F ^³
CD49f antigen ^³
integrin alpha chain, alpha 6 ^²
integrin alpha6B ^²
integrin, alpha 6 ^²

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

Search outside databases for aliases for ITGA6 gene

Previous GC identifers: GC02P171344 GC02P171953 GC02P173256 GC02P173494 GC02P173117

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ITGA6 gene

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

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

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P173000: (about GC identifiers)

Start:	173,000,392 bp from pter
End:	173,079,427 bp from pter
Size:	79,036 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000002.10 NT_005403.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 an 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: Membrane; Single-pass type I membrane protein

Secondary accessions: B2RMU9 B4DG69 B4DKB8 Q08443 Q0MRC7 Q14646 Q16508 Q53RX7 Q59HB7 Q86VL6 Q9UN03

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

(Additional isoforms seem to exist. There is a combination of at least four alternatively spliced domains, two extracellular (X1 and X2) and two cytoplasmic (A and B). So far detected are isoform Alpha-6X1A, isoform Alpha-6X1B and isoform Alpha-6X1X2A (minor). Experimental confirmation may be lacking for some isoforms)

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 phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000201.2 NP_001073286.1

ENSEMBL proteins:

ENSP00000264106 ENSP00000386896 ENSP00000364369 ENSP00000264107 ENSP00000341078 ENSP00000386614

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for ITGA6 (Integrin alpha 6 beta 4)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Integrin alpha 6a, Integrin alpha 6, Integrin alpha 6b, Integrin alpha 3b+6b, Integrin alpha 6+beta 1)
	Human Recombinant Proteins from Abnova (ITGA6)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008305	integrin complex	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for ITGA6:

	Invitrogen Antibodies for ITGA6
	Millipore Mono- and Polyclonal Antibodies for the study of ITGA6
	Sigma-Aldrich Antibodies for ITGA6
	R&D Systems Antibodies for ITGA6 (Integrin alpha 6/CD49f)
	Cell Signaling Technology (CST) Antibodies for ITGA6 (Integrin alpha-6)
	Antibodies from Abcam (Integrin alpha 6a, Integrin alpha 6, Integrin alpha 6b, Integrin alpha 3b+6b, Integrin alpha 6+beta 1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ITGA6)
	Novus Biologicals Antibodies for ITGA6

Assays for ITGA6:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ITGA6)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ITGA6)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000210

Applied Biosystems Silencer® siRNAs for ITGA6

Sigma-Aldrich siRNA and siRNA Panels for ITGA6

Sigma-Aldrich shRNA Panels and shRNA for ITGA6

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000210
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000210
untagged cDNA clones in CMV expression vector (see all 2): NM_000210

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001079818

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)

15/16 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Itga6) (see all 16 ):

craniofacial	digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	hematopoietic system	immune system	lethality-prenatal/perinatal	limbs/digits/tail
nervous system	other	renal/urinary system	respiratory system	skin/coat/nails

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IEA	--

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for ITGA6 (Your Favorite Gene powered by Ingenuity) (see all 8 )

Virus Entry via Endocytic Pathways
Caveolar-mediated Endocytosis
Integrin Signaling
NF-&kappa
Reelin Signaling in Neurons

GeneDecks ITGA6 for the pathways selected above

About GeneDecksing

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

5/135 Interacting proteins for ITGA6 (P23229² ENSP00000264106³) via UniProtKB, MINT, and/or STRING (see all 135 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDIA3	P30101²	MINT-4301321
ITGB1	ENSP00000364094³	STRING (score=.999)
ITGB4	ENSP00000200181³	STRING (score=.998)
COL17A1	ENSP00000340937³	STRING (score=.992)
CD9	ENSP00000009180³	STRING (score=.982)

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3 Gene Ontology (GO) biological process terms (links to tree view):

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

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ITGA6
10/12 Novoseek chemical compound relationships for ITGA6 gene (see all 12 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	76.65	3	17129354 (1), 8705822 (1), 7551559 (1)
sikvav	63.43	2	17591960 (1), 17235355 (1)
matrigel	57.70	4	12356873 (1), 1280276 (1), 16154099 (1), 19152768 (1)
hpvs	27.18	1	16376962 (1)
heparan sulfate	16.56	3	16376962 (2)
fibrinogen	0.00	1	7831682 (1)
oligonucleotide	0.00	1	8756294 (1)
progesterone	0.00	1	15892896 (1)
tyrosine	0.00	2	7622602 (1), 10047469 (1)
agarose	0.00	1	8929432 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ITGA6)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ITGA6)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000210

Sigma-Aldrich siRNA and siRNA Panels for ITGA6

Sigma-Aldrich shRNA Panels and shRNA for ITGA6

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000210 NM_001079818

REFSEQ mRNAs for ITGA6 gene (2 alternative transcripts):

NM_000210.2 NM_001079818.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000210 NM_001079818

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000210
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000210
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000210

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.40249838 DT.100797199 DT.120966784 DT.418472 DT.95166144

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

AA969146 AW516434 BU619964 AI095118 BU742227 AI478635 BU620869 AI745043

H13417 AA373973 AW590978 BC050585 BQ224040 BF149179 F04601 AW192413

BX282413 AI656174 BM713014 AL121316 AA372640 BG290713 CB122693 BM728447

highest scoring ESTs for ITGA6:

S66213 X53586 AA316992 AA344374 AA344845 AA352818 AA353560 AA372640 AA573629 AA694055

Unigene Cluster for ITGA6:

Integrin, alpha 6

Hs.133397 [show with all ESTs]

Unigene Representative Sequence: NM_000210

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for ITGA6

6 Ensembl transcripts including schematic representations:

ENST00000264106 ENST00000409080 ENST00000375221 ENST00000264107 ENST00000343713 ENST00000409532

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ITGA6 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ITGA6

¹ / ² / ³

9 probe-sets matching ITGA6 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
41266_at²^{, 3}	U95-A	1	1.00	1.00	0.88	1.67	X53586	1.00	1.00	1.00	1
2077_at²^{, 3}	U95-A	1	1.00	1.00	-0.30	0.79	L40385	0.20	1.00	0.72	1
33410_at²^{, 3}	U95-A	1	1.00	1.00	0.90	0.92	S66213	1.00	1.00	1.00	1
33411_g_at²^{, 3}	U95-A	2	1.00	0.97	0.96	0.82	S66213	1.00	1.00	1.00	1
91106_at²^{, 3}	U95-D	2	0.31	0.83	0.44	0.85	AI655406	0.20	1.00	0.72	1
215177_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AV733308	0.40	1.00	0.76	1
201656_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000210	0.60	1.00	0.82	1
215177_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201656_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: ATTAGAAATT

SOURCE GeneReport for Unigene cluster: Hs.133397
Expression variation in blood from EXPOLDB for ITGA6
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)

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ITGA6 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ITGA6¹	--	integrin, alpha 6	89.61(n) 92.85(a)	478800 XM_535964.2 XP_535964.2
chimpanzee (Pan troglodytes)	ITGA6¹	--	integrin, alpha 6	99.51(n) 99.73(a)	459742 XM_515909.2 XP_515909.2
cow (Bos taurus)	ITGA6¹	--	integrin, alpha 6	89.45(n) 91.81(a)	535043 XM_615021.3 XP_615021.3
rat (Rattus norvegicus)	Itga6¹	--	integrin, alpha 6	85.75(n) 91.34(a)	114517 XM_215984.4 XP_215984.4
mouse (Mus musculus)	Itga6^{1, 5}	2 (38.00 cM)⁵	integrin alpha 6^{1, 5}	85.81(n)¹ 91.9(a)¹	16403¹ NM_008397.3¹ NP_032423.2¹ AI115430⁵ AK028752⁵ (see all 21)

About this table Species with no ortholog for ITGA6

ENSEMBL Gene Tree for ITGA6

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

Paralogs for ITGA6 gene

ITGA3² ITGA7²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/592 NCBI SNPs in ITGA6 are shown (see all 592 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 302)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2884226^1,2	A,C,F,H,O	173079593(-)	`CACACG/ATCACA`	2	--	ng3¹		7	NA EU EA WA	558
	rs17664^1,2	A,C,F,H,O	173077477(+)	`CCTTTG/ATTTTT`	2	--	ut3¹		12	MN NA EU EA WA	1104
	rs2737085^1,2	C,F,H,O	173060753(+)	`CCCCAG/TATCTG`	2	D/Y	mis¹ ese³		12	NA EU EA WA	1034
	rs16860530^1,2	C,F,H	173058128(+)	`TTCCCA/GTAACT`	2	I/V	mis¹		12	NA EU EA WA	1058
	rs2141698^1,2	C,F,H	172998641(-)	`TGGTTG/ACTGAA`	2	--	ng5¹		12	EU EA WA	1258
	rs11895564^1,2	C,F,H	173048054(+)	`GCATTG/ACAGTA`	2	T/A	mis¹		17	EU EA WA NA	1664
	rs10209072^1,2	C,F,H	173064204(+)	`GTAGCG/ATGAAC`	2	M/V	mis¹		12	NA EU EA WA	1060
	rs16860643^1,2	F,H	173079524(+)	`TTAAAA/GAAAAT`	2	--	ng3¹		7	NA EU EA WA	562
	rs16860635^1,2	F,H	173078236(+)	`GAGAAA/GATGGG`	2	--	ut3¹		7	NA EU EA WA	562
	rs16860642^1,2	F,H	173079416(+)	`ACAGGT/CATTTA`	2	--	ut3¹		7	NA EU EA WA	550

About this table

HapMap Linkage Disequilibrium images for ITGA6 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 147556 disorders: 226730

UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229

Defects in ITGA6 are a cause of epidermolysis bullosa with pyloric atresia (EB-PA)

[MIM:226730]; also known as aplasia cutis congenita with gastrointestinal atresia. EB-PA is an

autosomal recessive disease characterized by mucocutaneous fragility and gastrointestinal atresia,

which most commonly affects the pylorus

10/50 Novoseek disease relationships for ITGA6 gene (see all 50 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pyloric atresia	89.04	7	14675179 (2), 18779879 (1), 9546354 (1), 18955862 (1) (see all 6)
epidermolysis bullosa junctional	83.32	6	18779879 (1), 9158140 (1), 9804362 (1), 14675179 (1) (see all 6)
eb-pa	82.20	2	9892956 (1), 11328943 (1)
lethal junctional epidermolysis bullosa	73.71	1	14675179 (1)
pemphigoid bullous	72.28	17	11669480 (2), 16126949 (2), 9205513 (1), 9389789 (1) (see all 14)
epidermolysis bullosa	70.95	10	8712842 (3), 9742403 (1), 9546354 (1), 1694890 (1) (see all 6)
pemphigoid cicatricial	61.89	1	16810295 (1)
ocular cicatricial pemphigoid	42.37	1	16810295 (1)
metastasis	36.94	21	15679046 (4), 8105045 (4), 7681030 (2), 10048983 (1) (see all 12)
tumors	35.19	50	7586806 (4), 7681030 (2), 8344495 (2), 10717240 (2) (see all 28)

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1 PharmGKB disease relationship for ITGA6 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872 12730115

About this table

GeneTests: ITGA6

Epidermolysis Bullosa with Pyloric Atresia

Human Gene Mutation Database: ITGA6
Human Genome Epidemiology Navigator: ITGA6 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/357 PubMed articles for ITGA6 gene (see all 357 ):

Biochemical characterization and tissue distribution of the A and B variants of the integrin alpha 6 subunit. (PubMed id 7681434)^{1, 3, 4} Hogervorst F.... Sonnenberg A. (1993)
Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)^{3, 4} 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)^{3, 4} Delwel G.O.... Sonnenberg A. (1995)
The role of phosphorylation in activation of the alpha 6A beta 1 laminin receptor. (PubMed id 8360143)^{3, 4} Hogervorst F.... Sonnenberg A. (1993)
Alternative extracellular and cytoplasmic domains of the integrin alpha 7 subunit are differentially expressed during development. (PubMed id 8253814)^{3, 4} 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)^{3, 4} Shaw L.M.... Mercurio A.M. (1993)
An efficient and reliable method for cloning PCR-amplification products: a survey of point mutations in integrin cDNA. (PubMed id 1476731)^{3, 4} 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)^{3, 4} Hogervorst F.... Sonnenberg A. (1991)
Cell type-specific integrin variants with alternative alpha chain cytoplasmic domains. (PubMed id 1946438)^{3, 4} 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)^{3, 4} Tamura R.N.... Quaranta V. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3655	HGNC: 6142	AceView: ITGA6	Ensembl:ENSG00000091409	euGenes: HUgn3655
ECgene: ITGA6	H-InvDB: ITGA6

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

Name	Description
ATLAS Chromosomes in Cancer entry for ITGA6	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=ITGA6

Licensable Technologies for ITGA6
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ITGA6:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ITGA6-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ITGA6		Antibodies for ITGA6
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ITGA6		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ITGA6)
	Antibodies (ITGA6)
	Chimera RNAi (ITGA6)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for ITGA6 (Integrin alpha-6)

	Recombinant Proteins (Integrin alpha 6a, Integrin alpha 6, Integrin alpha 6b, Integrin alpha 3b+6b, Integrin alpha 6+beta 1)
	Antibodies (Integrin alpha 6a, Integrin alpha 6, Integrin alpha 6b, Integrin alpha 3b+6b, Integrin alpha 6+beta 1)

Search OriGene for ITGA6

Search Tocris compounds for ITGA6

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ITGA6

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ITGA6 Gene at Home site.
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ITGA6 Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for ITGA6

Summaries
for ITGA6

Genomic Location
for ITGA6

Proteins
for ITGA6

Protein Domains/
Families
for ITGA6

Gene Function
for ITGA6

Pathways & Interactions
for ITGA6

Drugs & Compounds
for ITGA6

Transcripts
for ITGA6

Expression
for ITGA6

Orthologs
for ITGA6

Paralogs
for ITGA6

SNPs/Variants
for ITGA6

Disorders & Mutations
for ITGA6

Medical News
for ITGA6

Publications
for ITGA6

Search for ITGA6

Genome Databases showing ITGA6

Other Databases showing ITGA6

Specialized Databases showing ITGA6

Licensable Technologies
for ITGA6

Services
for ITGA6

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ITGA6 Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor ITGA6

Summariesfor ITGA6

Genomic Locationfor ITGA6

Proteinsfor ITGA6

Protein Domains/Familiesfor ITGA6

Gene Functionfor ITGA6

Pathways & Interactionsfor ITGA6

Drugs & Compoundsfor ITGA6

Transcriptsfor ITGA6

Expression for ITGA6

Orthologsfor ITGA6

Paralogsfor ITGA6

SNPs/Variantsfor ITGA6

Disorders & Mutationsfor ITGA6

Medical Newsfor ITGA6

Publicationsfor ITGA6

Search for ITGA6

Genome Databases showing ITGA6

Other Databases showing ITGA6

Specialized Databases showing ITGA6

Licensable Technologiesfor ITGA6

Servicesfor ITGA6

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ITGA6

Summaries
for ITGA6

Genomic Location
for ITGA6

Proteins
for ITGA6

Protein Domains/
Families
for ITGA6

Gene Function
for ITGA6

Pathways & Interactions
for ITGA6

Drugs & Compounds
for ITGA6

Transcripts
for ITGA6

Expression
for ITGA6

Orthologs
for ITGA6

Paralogs
for ITGA6

SNPs/Variants
for ITGA6

Disorders & Mutations
for ITGA6

Medical News
for ITGA6

Publications
for ITGA6

Licensable Technologies
for ITGA6

Services
for ITGA6