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 w... See more...

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
  • Integrin Alpha-6 3 4
  • VLA-6 3 4
  • 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 Junctionalis With Pyloric Atresia and Pyloric Atresia. Among its related pathways are Hematopoietic cell lineage and ERK Signaling. Gene Ontology (GO) annotations related to this gene include laminin binding. An important paralog of this gene is ITGA7.

UniProtKB/Swiss-Prot Summary for ITGA6 Gene

  • Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) 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). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).

Gene Wiki entry for ITGA6 Gene

Additional gene information for ITGA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGA6 Gene

Genomics for ITGA6 Gene

GeneHancer (GH) Regulatory Elements for ITGA6 Gene

Promoters and enhancers for ITGA6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGA6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGA6

Top Transcription factor binding sites by QIAGEN in the ITGA6 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • c-Myc
  • FOXO4
  • Max1
  • MyoD
  • p53

Genomic Locations for ITGA6 Gene

Genomic Locations for ITGA6 Gene
chr2:172,427,354-172,506,459
(GRCh38/hg38)
Size:
79,106 bases
Orientation:
Plus strand
chr2:173,292,082-173,371,181
(GRCh37/hg19)
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 (By similarity). Alpha-6 associates with either beta-1 (ITGB1) or beta-4 (ITGB4) to form ITGA6:ITGB1 and ITGA6:ITGB4, respectively (By similarity). ITGA6:ITGB1 is found in a complex with CD9; interaction takes place in oocytes and is involved in sperm-egg fusion (By similarity). 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). ITGA6:ITGB4 interacts with IGF2 (PubMed:28873464). Interacts with ADAM9 (By similarity). Interacts with RAB21 (PubMed:16754960). Interacts with MDK (PubMed:15466886). ITGA6:ITGB1 interacts with MDK; this interaction mediates MDK-induced neurite outgrowth (PubMed:15466886).
    SequenceCaution:
    • Sequence=BAG57680.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ITGA6 Gene

neXtProt entry for ITGA6 Gene

Post-translational modifications for ITGA6 Gene

  • 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.
  • Undergoes PLAU-mediated cleavage at residues Arg-634-635-Arg in a time-dependent manner to produce processed integrin alpha-6 (alpha6p) (PubMed:11359780, PubMed:15023541, PubMed:17303120). Production of alpha6p enhances prostate cancer cell invasion and migration (PubMed:17303120).
  • Palmitoylation by DHHC3 enhances stability and cell surface expression.
  • Glycosylation at Asn78, Asn323, Asn223, Asn409, Asn770, Asn787, Asn930, Asn966, and Asn997
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

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

Protein Domains for ITGA6 Gene

Blocks:
  • Integrins alpha chain
  • Integrin alpha chain, C-terminal cytoplasmic region
  • FG-GAP
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ITGA6 Gene

GenScript: Design optimal peptide antigens:
  • VLA-6 (ITA6_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) 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). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).
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)

Phenotypes From GWAS Catalog for ITGA6 Gene

Gene Ontology (GO) - Molecular Function for ITGA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 2649503
GO:0031994 insulin-like growth factor I binding IDA 22351760
GO:0038132 neuregulin binding IDA 20682778
GO:0043236 laminin binding IEA --
GO:0044877 protein-containing complex binding IEA --
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:

Clone Products

  • Addgene plasmids for ITGA6

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 3
peroxisome 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 IDA,TAS --
GO:0005913 cell-cell adherens junction IEA --
GO:0005925 focal adhesion HDA 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

PathCards logo

SuperPathways for ITGA6 Gene

SuperPathway Contained pathways
1 MAPK-Erk Pathway
2 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
3 Integrin Pathway
.67
.67
.56
.56
.38
4 Focal Adhesion
.33
5 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
.35
genes like me logo Genes that share pathways with ITGA6: view

Pathways by source for ITGA6 Gene

1 GeneGo (Thomson Reuters) pathway for ITGA6 Gene
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
33 Qiagen pathways for ITGA6 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Akt Signaling
  • Calpain Protease Regulates Cellular Mechanics
2 Cell Signaling Technology pathways for ITGA6 Gene

SIGNOR curated interactions for ITGA6 Gene

Activates:
Is activated by:

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

mRNA/cDNA for ITGA6 Gene

5 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for ITGA6

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

Expression for ITGA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ITGA6 Gene



Protein tissue co-expression partners for ITGA6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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). Processed integrin alpha-6: Expressed at low levels in normal prostate tissue with elevated levels in prostate cancer tissue (at protein level) (PubMed:15023541).

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
Regions:
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

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 31 30
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ITGA6 31 30
  • 89.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ITGA6 31 30
  • 89.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Itga6 17 31 30
  • 86.77 (n)
rat
(Rattus norvegicus)
Mammalia Itga6 30
  • 85.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGA6 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA6 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGA6 31 30
  • 72.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGA6 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga6 30
  • 66.27 (n)
Str.11842 30
African clawed frog
(Xenopus laevis)
Amphibia INTA6 30
zebrafish
(Danio rerio)
Actinopterygii itga6a 31 30
  • 63.58 (n)
OneToMany
itga6b 31
  • 57 (a)
OneToMany
itga6l 31
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mew 31 32 30
  • 44.71 (n)
OneToMany
scb 32
  • 26 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000307 30
  • 42.84 (n)
worm
(Caenorhabditis elegans)
Secernentea ina-1 31 32 30
  • 46.52 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6547 31
  • 33 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITGA6: view image

Paralogs for ITGA6 Gene

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

  • ITA6_HUMAN
  • C9JXX7_HUMAN
  • H7BZ97_HUMAN
genes like me logo Genes that share paralogs with ITGA6: view

Variants for ITGA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGA6 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
713777 Likely Benign: not provided 172,427,936(+) A/G MISSENSE_VARIANT,INTRON_VARIANT
722316 Benign: not provided 172,489,517(+) C/T SYNONYMOUS_VARIANT
727885 Likely Benign: not provided 172,471,059(+) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
729068 Benign: not provided 172,488,237(+) G/C INTRON_VARIANT
741971 Likely Benign: not provided 172,491,304(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ITGA6 Gene

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)

Additional Variant Information for ITGA6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ITGA6 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ITGA6 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa junctionalis with pyloric atresia
  • epidermolysis bullosa, junctional, with pyloric atresia
pyloric atresia
epidermolysis bullosa
  • acantholysis bullosa
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
duodenal atresia
  • duodenal stenosis
- 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.

Additional Disease Information for ITGA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 54
  2. Direct integrin binding to insulin-like growth factor-2 through the C-domain is required for insulin-like growth factor receptor type 1 (IGF1R) signaling. (PMID: 28873464) Cedano Prieto DM … Takada Y (PloS one 2017) 3 4 54
  3. 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 54
  4. 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 41 54
  5. 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 41 54

Products for ITGA6 Gene