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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 epidermolysis bullosa with pyloric atresia. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Cell adhesion molecules (CAMs). GO annotations related to this gene include protein complex binding and laminin binding. An important paralog of this gene is ITGA8.

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.

Gene Wiki entry for ITGA6 Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ITGA6 on UCSC Golden Path with GeneCards custom track

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.
    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

Proteomics data for ITGA6 Gene at MOPED

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 Asn 78, Asn 223, Asn 323, Asn 409, Asn 770, Asn 787, Asn 930, Asn 966, and Asn 997
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITGA6 Gene

Domains & Families for ITGA6 Gene

Gene Families for ITGA6 Gene

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.
  • Contains 7 FG-GAP repeats.
Family:
  • Belongs to the integrin alpha chain family.
Similarity:
  • Contains 7 FG-GAP repeats.
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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ITGA6 Gene COMPARTMENTS Subcellular localization image for ITGA6 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
cytosol 2
peroxisome 2
chloroplast 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ITGA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009925 basal plasma membrane IEA --
genes like me logo Genes that share ontologies with ITGA6: view

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:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with ITGA6: view

Drugs & Compounds for ITGA6 Gene

(4) Drugs for ITGA6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ITGA6: view

Transcripts for ITGA6 Gene

Unigene Clusters for ITGA6 Gene

Integrin, alpha 6:
Representative Sequences:

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 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, MOPED, and MaxQB for ITGA6 Gene



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).
genes like me logo Genes that share expression patterns with ITGA6: view

Protein tissue co-expression partners for ITGA6 Gene

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
cow
(Bos Taurus)
Mammalia ITGA6 35
  • 89.45 (n)
  • 91.81 (a)
ITGA6 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGA6 35
  • 89.61 (n)
  • 92.85 (a)
ITGA6 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itga6 35
  • 86.77 (n)
  • 93.13 (a)
Itga6 16
Itga6 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITGA6 35
  • 99.57 (n)
  • 99.73 (a)
ITGA6 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itga6 35
  • 85.69 (n)
  • 91.15 (a)
oppossum
(Monodelphis domestica)
Mammalia ITGA6 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA6 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGA6 35
  • 72.59 (n)
  • 72.36 (a)
ITGA6 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGA6 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga6 35
  • 66.27 (n)
  • 66.45 (a)
Str.11842 35
African clawed frog
(Xenopus laevis)
Amphibia INTA6 35
zebrafish
(Danio rerio)
Actinopterygii itga6a 35
  • 63.58 (n)
  • 64.43 (a)
itga6a 36
  • 63 (a)
OneToMany
itga6b 36
  • 57 (a)
OneToMany
itga6l 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mew 37
  • 29 (a)
scb 37
  • 26 (a)
mew 35
  • 44.71 (n)
  • 34.85 (a)
mew 36
  • 27 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000307 35
  • 42.84 (n)
  • 35.89 (a)
worm
(Caenorhabditis elegans)
Secernentea ina-1 37
  • 27 (a)
ina-1 35
  • 46.52 (n)
  • 33.3 (a)
ina-1 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
CSA.6547 36
  • 33 (a)
ManyToMany
Species with no ortholog for ITGA6:
  • 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
rs1574028 -- 172,469,112(+) TCTTC(A/C)ATCTG intron-variant
rs1574256 -- 172,449,237(-) TCATT(C/G)TAGAA intron-variant
rs1574259 -- 172,448,725(+) AAATT(C/T)CGGGC intron-variant
rs2737081 -- 172,458,384(+) ACAGG(C/T)GTGAG intron-variant
rs2737083 -- 172,461,340(+) GGTGC(A/C)GCTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv875414 CNV Gain 21882294
esv2677918 CNV Deletion 23128226
esv269531 CNV Insertion 20981092
esv272846 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
ITGA6
Human Gene Mutation Database (HGMD)
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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa, junctional, with pyloric stenosis
  • epidermolysis bullosa, junctional, with pyloric atresia
epidermolysis bullosa with pyloric atresia
  • carmi syndrome
itga6-related epidermolysis bullosa with pyloric atresia
duodenal atresia
  • duodenal stenosis
junctional epidermolysis bullosa
  • congenital junctional epidermolysis 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 S.C. … Cress A.E. (Exp. Cell Res. 2007) 3 4 23 67
  2. Integrin alpha 6 regulates glioblastoma stem cells. (PMID: 20452317) Lathia J.D. … Rich J.N. (Cell Stem Cell 2010) 3 23
  3. Overexpression of CD49f in precursor B-cell acute lymphoblastic leukemia: potential usefulness in minimal residual disease detection. (PMID: 18831072) DiGiuseppe J.A. … Borowitz M.J. (Cytometry B Clin Cytom 2009) 3 23
  4. An immunohistochemical study of beta1 integrin molecules (VLA-4, VLA-5, VLA-6) in all endometrial compartments of fertile and infertile women in Ahwaz-Iran. (PMID: 19579970) Boroujerdnia M.G. … Mosthophy N.E. (Pak. J. Biol. Sci. 2009) 3 23
  5. Identification of an epitope within human integrin alpha 6 subunit for the binding of autoantibody and its role in basement membrane separation in oral pemphigoid. (PMID: 16424229) Rashid K.A. … Ahmed A.R. (J. Immunol. 2006) 3 23

Products for ITGA6 Gene

Sources for ITGA6 Gene

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