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Aliases for ITGA6 Gene

Aliases for ITGA6 Gene

  • Integrin Subunit Alpha 6 2 3 5
  • CD49 Antigen-Like Family Member F 3 4
  • Integrin, Alpha 6 2 3
  • VLA-6 3 4
  • Integrin Alpha-6 3
  • Integrin Alpha6B 3
  • CD49f Antigen 4
  • ITGA6B 3
  • CD49f 3

External Ids for ITGA6 Gene

Previous GeneCards Identifiers for ITGA6 Gene

  • GC02P171344
  • GC02P171953
  • GC02P173256
  • GC02P173494
  • GC02P173117
  • GC02P173000
  • GC02P165170

Summaries for ITGA6 Gene

Entrez Gene Summary for ITGA6 Gene

  • The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for ITGA6 Gene

ITGA6 (Integrin Subunit Alpha 6) is a Protein Coding gene. Diseases associated with ITGA6 include Epidermolysis Bullosa, Junctional, With Pyloric Stenosis and Itga6-Related Epidermolysis Bullosa With Pyloric Atresia. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Hematopoietic cell lineage. GO annotations related to this gene include protein complex binding and laminin binding. An important paralog of this gene is ITGA7.

UniProtKB/Swiss-Prot for ITGA6 Gene

  • 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 (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760).

Gene Wiki entry for ITGA6 Gene

Additional gene information for ITGA6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA6 Gene

Genomics for ITGA6 Gene

Regulatory Elements for ITGA6 Gene

Enhancers for ITGA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H172246 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.6 -176.5 -176451 8 FOXA2 ATF1 ZNF766 ZNF416 ATF7 FOS ZNF202 YY2 REST TSHZ1 DCAF17 DAP3P2 ITGA6 ENSG00000226963 METAP1D GC02M172117 ENSG00000232555
GH02H172092 3.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 9.9 -329.2 -329174 10 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 DCAF17 DAP3P2 DLX2 RPS15P4 METAP1D HAT1 ENSG00000232788 ITGA6 DLX1 DYNC1I2
GH02H172259 1.1 FANTOM5 ENCODE dbSUPER 18.9 -166.1 -166062 3 SOX5 SOX13 ZNF157 ZNF10 ZBTB26 RARA ITGA6 ENSG00000226963 ENSG00000232555 GC02M172117
GH02H172207 1 Ensembl ENCODE dbSUPER 18 -218.5 -218522 2 MAX REST ATF2 MYC ITGA6 ENSG00000232788 ENSG00000226963 GC02M172117 ENSG00000232555
GH02H172195 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -230.0 -229992 3 POLR2A MAX MNT MYC MAFK ITGA6 ENSG00000232788 ENSG00000226963 GC02M172117 ENSG00000232555
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGA6 on UCSC Golden Path with GeneCards custom track

Promoters for ITGA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126322 1346 3001 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 KLF7 SP3 SP5 MXD4

Genomic Location for ITGA6 Gene

Chromosome:
2
Start:
172,427,354 bp from pter
End:
172,506,453 bp from pter
Size:
79,100 bases
Orientation:
Plus strand

Genomic View for ITGA6 Gene

Genes around ITGA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA6 Gene

Proteins for ITGA6 Gene

  • Protein details for ITGA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23229-ITA6_HUMAN
    Recommended name:
    Integrin alpha-6
    Protein Accession:
    P23229
    Secondary Accessions:
    • B2RMU9
    • B4DG69
    • B4DKB8
    • C4AM96
    • G5E9H1
    • Q08443
    • Q0MRC7
    • Q14646
    • Q16508
    • Q53RX7
    • Q59HB7
    • Q86VL6
    • Q9UCT1
    • Q9UN03

    Protein attributes for ITGA6 Gene

    Size:
    1130 amino acids
    Molecular mass:
    126606 Da
    Quaternary structure:
    • 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. ITGA6:ITGB4 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGA6:ITGB4 is found in a ternary complex with IGF1 and IGF1R (PubMed:22351760). Interacts with ADAM9 (By similarity).
    SequenceCaution:
    • Sequence=BAG57680.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ITGA6 Gene

neXtProt entry for ITGA6 Gene

Post-translational modifications for ITGA6 Gene

  • In invasive prostate cancer ITGA6 undergoes PLAU-mediated cleavage at residues Arg-634-635-Arg in a time-dependent manner enhancing cell invasion and migration in vitro.
  • 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 ligand.
  • Palmitoylation by DHHC3 enhances stability and cell surface expression.
  • Glycosylation at isoforms=9, 2, 3, 6, 4, 578, isoforms=9, 2, 3, 6223, isoforms=7, 9, 2, 3, 6, 4, 5323, isoforms=7, 9, 2, 3, 6, 4, 5409, isoforms=7, 9, 2, 3, 6, 4, 5770, isoforms=7, 9, 2, 3, 6, 4, 5787, posLast=930930, posLast=966966, and isoforms=7, 9, 2, 3, 6, 4, 5997
  • Modification sites at PhosphoSitePlus

Assay Products

  • Cloud-Clone Corp. Assay Kits for ITGA6

No data available for DME Specific Peptides for ITGA6 Gene

Domains & Families for ITGA6 Gene

Gene Families for ITGA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ITGA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23229

UniProtKB/Swiss-Prot:

ITA6_HUMAN :
  • Belongs to the integrin alpha chain family.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGA6: view

Function for ITGA6 Gene

Molecular function for ITGA6 Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot 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 (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760).

Phenotypes From GWAS Catalog for ITGA6 Gene

Gene Ontology (GO) - Molecular Function for ITGA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005515 protein binding IPI 2649503
GO:0031994 insulin-like growth factor I binding IDA 22351760
GO:0032403 protein complex binding IEA --
GO:0038132 neuregulin binding IDA 20682778
genes like me logo Genes that share ontologies with ITGA6: view
genes like me logo Genes that share phenotypes with ITGA6: view

Human Phenotype Ontology for ITGA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGA6 Gene

MGI Knock Outs for ITGA6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITGA6
  • Applied Biological Materials Clones for ITGA6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for ITGA6 (Integrin alpha 6/CD49f)

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITGA6 Gene

Localization for ITGA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA6 Gene

Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGA6 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
peroxisome 2
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ITGA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005886 plasma membrane TAS,IDA --
GO:0005913 cell-cell adherens junction IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0008305 integrin complex IEA --
genes like me logo Genes that share ontologies with ITGA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITGA6 Gene

Pathways & Interactions for ITGA6 Gene

genes like me logo Genes that share pathways with ITGA6: view

SIGNOR curated interactions for ITGA6 Gene

Gene Ontology (GO) - Biological Process for ITGA6 Gene

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 IEA --
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0010668 ectodermal cell differentiation IEP 23154389
genes like me logo Genes that share ontologies with ITGA6: view

Drugs & Compounds for ITGA6 Gene

(5) Drugs for ITGA6 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zaurategrast Pharma Integrin inhibitor 0

(14) Additional Compounds for ITGA6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ITGA6 Gene

Compound Action Cas Number
Zaurategrast Integrin inhibitor 455264-31-0
genes like me logo Genes that share compounds with ITGA6: view

Drug Products

Transcripts for ITGA6 Gene

Unigene Clusters for ITGA6 Gene

Integrin, alpha 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITGA6
  • Applied Biological Materials Clones for ITGA6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for ITGA6 (Integrin alpha 6/CD49f)

Alternative Splicing Database (ASD) splice patterns (SP) for ITGA6 Gene

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:
SP6:

ExUns: 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b
SP1: -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for ITGA6 Gene

GeneLoc Exon Structure for
ITGA6
ECgene alternative splicing isoforms for
ITGA6

Expression for ITGA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGA6 Gene

This gene is overexpressed in Nerve - Tibial (x5.8).

Protein differential expression in normal tissues from HIPED for ITGA6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.3) and Placenta (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITGA6 Gene



Protein tissue co-expression partners for ITGA6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITGA6 Gene:

ITGA6

SOURCE GeneReport for Unigene cluster for ITGA6 Gene:

Hs.133397

mRNA Expression by UniProt/SwissProt for ITGA6 Gene:

P23229-ITA6_HUMAN
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).

Evidence on tissue expression from TISSUES for ITGA6 Gene

  • Skin(4.6)
  • Nervous system(4.6)
  • Blood(4.5)
  • Liver(4.4)
  • Pancreas(4.2)
  • Intestine(3.2)
  • Heart(2.3)
  • Kidney(2.3)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGA6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • reproductive
  • skeleton
  • urinary
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • scalp
  • skull
  • tooth
Thorax:
  • esophagus
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • placenta
  • rectum
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
genes like me logo Genes that share expression patterns with ITGA6: view

Primer Products

Orthologs for ITGA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGA6 33 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia ITGA6 33 34
  • 89.61 (n)
cow
(Bos Taurus)
Mammalia ITGA6 33 34
  • 89.45 (n)
mouse
(Mus musculus)
Mammalia Itga6 33 16 34
  • 86.77 (n)
rat
(Rattus norvegicus)
Mammalia Itga6 33
  • 85.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGA6 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA6 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGA6 33 34
  • 72.59 (n)
lizard
(Anolis carolinensis)
Reptilia ITGA6 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga6 33
  • 66.27 (n)
Str.11842 33
African clawed frog
(Xenopus laevis)
Amphibia INTA6 33
zebrafish
(Danio rerio)
Actinopterygii itga6a 33 34
  • 63.58 (n)
itga6b 34
  • 57 (a)
OneToMany
itga6l 34
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mew 34 33 35
  • 44.71 (n)
OneToMany
scb 35
  • 26 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000307 33
  • 42.84 (n)
worm
(Caenorhabditis elegans)
Secernentea ina-1 35 33 34
  • 46.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6547 34
  • 33 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
Species where no ortholog for ITGA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGA6 Gene

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

Paralogs for ITGA6 Gene

(4) SIMAP similar genes for ITGA6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ITGA6: view

Variants for ITGA6 Gene

Sequence variations from dbSNP and Humsavar for ITGA6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs863223349 Likely pathogenic 172,504,162(+) AAAGA(-/AGA)GCGAG intron-variant, cds-indel
rs10209072 Likely benign 172,491,230(+) GTAGC(A/G)TGAAC intron-variant, downstream-variant-500B, reference, missense
rs114005087 Likely benign 172,504,663(+) CATCA(C/T)GTTAG intron-variant, utr-variant-3-prime
rs142884581 Likely benign 172,505,527(+) CAGGG(G/T)GTGGA intron-variant, utr-variant-3-prime
rs144682022 Likely benign 172,427,651(+) GACCC(A/G)TCCCG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ITGA6 Gene

Variant ID Type Subtype PubMed ID
dgv7172n54 CNV loss 21841781
esv2677918 CNV deletion 23128226
esv3341151 CNV insertion 20981092
esv3429126 CNV duplication 20981092
esv3560548 CNV deletion 23714750
esv3593363 CNV loss 21293372
nsv953516 CNV duplication 24416366

Variation tolerance for ITGA6 Gene

Residual Variation Intolerance Score: 3.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.98; 92.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGA6 Gene

Human Gene Mutation Database (HGMD)
ITGA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA6 Gene

Disorders for ITGA6 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ITGA6 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa, junctional, with pyloric stenosis
  • epidermolysis bullosa, junctional, with pyloric atresia
itga6-related epidermolysis bullosa with pyloric atresia
epidermolysis bullosa with pyloric atresia
  • junctional epidermolysis bullosa with pyloric atresia
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
epidermolysis bullosa
  • acantholysis bullosa
- elite association - COSMIC cancer census association via MalaCards
Search ITGA6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITA6_HUMAN
  • Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ITGA6

Genetic Association Database (GAD)
ITGA6
Human Genome Epidemiology (HuGE) Navigator
ITGA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGA6
genes like me logo Genes that share disorders with ITGA6: view

No data available for Genatlas for ITGA6 Gene

Publications for ITGA6 Gene

  1. Integrin alpha6 cleavage: a novel modification to modulate cell migration. (PMID: 17303120) Pawar SC … Cress AE (Experimental cell research 2007) 3 4 22 60
  2. Cross-talk between integrin α6β4 and insulin-like growth factor-1 receptor (IGF1R) through direct α6β4 binding to IGF1 and subsequent α6β4-IGF1-IGF1R ternary complex formation in anchorage-independent conditions. (PMID: 22351760) Fujita M … Takada Y (The Journal of biological chemistry 2012) 3 4 60
  3. Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer. (PMID: 20878950) Sun J … Xu J (The Prostate 2011) 3 45 60
  4. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 45 60
  5. Integrin alpha 6 regulates glioblastoma stem cells. (PMID: 20452317) Lathia JD … Rich JN (Cell stem cell 2010) 3 22 60

Products for ITGA6 Gene

  • Addgene plasmids for ITGA6

Sources for ITGA6 Gene

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