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Aliases for ITGB4 Gene

Aliases for ITGB4 Gene

  • Integrin Subunit Beta 4 2 3 5
  • CD104 Antigen 3 4
  • GP150 3 4
  • Integrin, Beta 4 2
  • Integrin Beta-4 3
  • CD104 3

External Ids for ITGB4 Gene

Previous GeneCards Identifiers for ITGB4 Gene

  • GC17P073492
  • GC17P076743
  • GC17P074181
  • GC17P074314
  • GC17P071229
  • GC17P073717
  • GC17P069141

Summaries for ITGB4 Gene

Entrez Gene Summary for ITGB4 Gene

  • Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITGB4 Gene

ITGB4 (Integrin Subunit Beta 4) is a Protein Coding gene. Diseases associated with ITGB4 include Epidermolysis Bullosa, Junctional, With Pyloric Stenosis and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. Among its related pathways are GPCR Pathway and MAPK-Erk Pathway. GO annotations related to this gene include receptor activity and G-protein coupled receptor binding. An important paralog of this gene is ITGB1.

UniProtKB/Swiss-Prot for ITGB4 Gene

  • Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. 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 ITGB4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB4 Gene

Genomics for ITGB4 Gene

Regulatory Elements for ITGB4 Gene

Enhancers for ITGB4 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
GH17G075720 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.5 +1.5 1533 4.7 HDGF PKNOX1 FOXA2 SIN3A ARID4B ZNF2 ZNF48 ZBTB7B TCF12 ELK1 ITGB4 GALK1 TMEM94 RECQL5 LLGL2 EVPL MRPS7 GC17M075722
GH17G075683 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18 -28.5 -28450 19.7 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A ZBTB7B ZNF207 FOS DEK RECQL5 ITGB4 SAP30BP SMIM5 GALK1 TMEM94 LLGL2 MYO15B TEN1 MRPS7
GH17G075677 1.4 Ensembl ENCODE dbSUPER 12.4 -41.1 -41109 4.7 PKNOX1 NFIB ZFP64 KLF17 SIN3A RAD21 YY1 GATA2 ZNF207 RCOR1 GALK1 ITGB4 RECQL5 LLGL2 TMEM94 MRPS7 ENSG00000264270 ENSG00000264829
GH17G075747 1.4 Ensembl ENCODE dbSUPER 11.6 +26.6 26591 0.6 HDGF ARID4B SIN3A ZNF2 ZNF121 ELK1 ZNF143 ZNF263 MXD4 REST RECQL5 SMIM5 ITGB4 UNK GC17P075751 GC17M075722
GH17G075674 1.4 Ensembl ENCODE dbSUPER 11.6 -46.1 -46094 1.5 ELF3 HDGF PKNOX1 FOXA2 NFIB SIN3A ZBTB7B RAD21 SCRT2 ZNF207 GALK1 ITGB4 MYO15B TMEM94 ENSG00000264829 RECQL5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGB4 on UCSC Golden Path with GeneCards custom track

Promoters for ITGB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098437 72 801 ELF3 NFIB FUS SREBF2 SIN3A KLF17 ZNF2 ZNF48 ZBTB7B ELK1

Transcription factor binding sites by QIAGEN in the ITGB4 gene promoter:

Genomic Location for ITGB4 Gene

Chromosome:
17
Start:
75,721,328 bp from pter
End:
75,757,819 bp from pter
Size:
36,492 bases
Orientation:
Plus strand

Genomic View for ITGB4 Gene

Genes around ITGB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB4 Gene

Proteins for ITGB4 Gene

  • Protein details for ITGB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16144-ITB4_HUMAN
    Recommended name:
    Integrin beta-4
    Protein Accession:
    P16144
    Secondary Accessions:
    • A0AVL6
    • O14690
    • O14691
    • O15339
    • O15340
    • O15341
    • Q0VF97
    • Q9UIQ4

    Protein attributes for ITGB4 Gene

    Size:
    1822 amino acids
    Molecular mass:
    202167 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1. 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).
    SequenceCaution:
    • Sequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Evidence={ECO:0000305}; Sequence=CAA37656.1; Type=Frameshift; Positions=1414, 1429; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ITGB4 Gene

    Alternative splice isoforms for ITGB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB4 Gene

Post-translational modifications for ITGB4 Gene

  • Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secundary association with tertaspanins.
  • Glycosylation at posLast=327327, isoforms=2, 3, 4, 5491, posLast=579579, posLast=617617, and posLast=695695
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ITGB4 (Integrin beta 4/CD104)
  • Cell Signaling Technology (CST) Antibodies for ITGB4 (ITGB4)

No data available for DME Specific Peptides for ITGB4 Gene

Domains & Families for ITGB4 Gene

Suggested Antigen Peptide Sequences for ITGB4 Gene

Graphical View of Domain Structure for InterPro Entry

P16144

UniProtKB/Swiss-Prot:

ITB4_HUMAN :
  • The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.
  • Belongs to the integrin beta chain family.
Domain:
  • The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.
Family:
  • Belongs to the integrin beta chain family.
genes like me logo Genes that share domains with ITGB4: view

Function for ITGB4 Gene

Molecular function for ITGB4 Gene

GENATLAS Biochemistry:
integrin beta 4 receptor of laminins,associating with ITGA6 component of hemidesmosomes,expressed only to proliferating basal keratinocytes in the epidermis involved in cell matrix adhesion,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,altered in agressive behavior of cancers
UniProtKB/Swiss-Prot Function:
Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. 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 Ontology (GO) - Molecular Function for ITGB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IPI 24851274
GO:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 2649503
GO:0031994 contributes_to insulin-like growth factor I binding IDA 22351760
GO:0038132 contributes_to neuregulin binding IDA 20682778
genes like me logo Genes that share ontologies with ITGB4: view
genes like me logo Genes that share phenotypes with ITGB4: view

Human Phenotype Ontology for ITGB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGB4 Gene

MGI Knock Outs for ITGB4:

Animal Model Products

miRNA for ITGB4 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITGB4
  • R&D Systems cDNA Clones for ITGB4 (Integrin beta 4/CD104)

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITGB4 Gene

Localization for ITGB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB4 Gene

Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junction, hemidesmosome. Note=Colocalizes with DST at the leading edge of migrating keratinocytes.

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 ITGB4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 4
cytoskeleton 2
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ITGB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex IEA --
GO:0009986 cell surface IDA 19933311
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ITGB4: view

Pathways & Interactions for ITGB4 Gene

genes like me logo Genes that share pathways with ITGB4: view

SIGNOR curated interactions for ITGB4 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ITGB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IMP 24007983
GO:0007154 cell communication IEA --
GO:0007155 cell adhesion IEA,NAS 2311577
GO:0007160 cell-matrix adhesion IMP,IEA 23496044
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with ITGB4: view

Drugs & Compounds for ITGB4 Gene

(8) Drugs for ITGB4 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
R1295 Investigational Pharma Target 0

(5) Additional Compounds for ITGB4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ITGB4: view

Transcripts for ITGB4 Gene

Unigene Clusters for ITGB4 Gene

Integrin, beta 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITGB4
  • R&D Systems cDNA Clones for ITGB4 (Integrin beta 4/CD104)

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7: - - - - - - - - - - - - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35 ^ 36a · 36b · 36c ^ 37 ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4:
SP5:
SP6:
SP7: - - - - - - -
SP8: - - -
SP9: - -
SP10: -
SP11:
SP12: -

ExUns: 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42 ^ 43
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:

Relevant External Links for ITGB4 Gene

GeneLoc Exon Structure for
ITGB4
ECgene alternative splicing isoforms for
ITGB4

Expression for ITGB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB4 Gene

This gene is overexpressed in Nerve - Tibial (x5.4), Minor Salivary Gland (x5.1), and Skin - Sun Exposed (Lower leg) (x4.3).

Protein differential expression in normal tissues from HIPED for ITGB4 Gene

This gene is overexpressed in Placenta (13.4), Salivary gland (10.2), Skin (9.6), and Spinal cord (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITGB4 Gene



Protein tissue co-expression partners for ITGB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITGB4 Gene:

ITGB4

SOURCE GeneReport for Unigene cluster for ITGB4 Gene:

Hs.632226

mRNA Expression by UniProt/SwissProt for ITGB4 Gene:

P16144-ITB4_HUMAN
Tissue specificity: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.

Evidence on tissue expression from TISSUES for ITGB4 Gene

  • Lung(4.5)
  • Pancreas(4.5)
  • Nervous system(4.5)
  • Bone marrow(4)
  • Intestine(3.9)
  • Skin(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • esophagus
  • trachea
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
  • red blood cell
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with ITGB4: view

Primer Products

Orthologs for ITGB4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGB4 34 35
  • 97.77 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 88 (a)
OneToMany
ITGB4 34
  • 85.98 (n)
-- 35
  • 71 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ITGB4 34 35
  • 87.41 (n)
rat
(Rattus norvegicus)
Mammalia Itgb4 34
  • 85.02 (n)
mouse
(Mus musculus)
Mammalia Itgb4 34 16 35
  • 82.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGB4 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves ITGB4 34 35
  • 70.44 (n)
lizard
(Anolis carolinensis)
Reptilia ITGB4 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb4 34
  • 64.1 (n)
zebrafish
(Danio rerio)
Actinopterygii itgb4 34 35
  • 59.65 (n)
wufb72e01 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
ManyToMany
Species where no ortholog for ITGB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ITGB4 Gene

ENSEMBL:
Gene Tree for ITGB4 (if available)
TreeFam:
Gene Tree for ITGB4 (if available)

Paralogs for ITGB4 Gene

genes like me logo Genes that share paralogs with ITGB4: view

Variants for ITGB4 Gene

Sequence variations from dbSNP and Humsavar for ITGB4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121912461 Pathogenic, Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730] 75,727,853(+) GAACC(C/T)GGGTA reference, missense
rs121912463 Pathogenic, Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730] 75,736,077(+) GCCAG(C/T)GTGTG upstream-variant-2KB, reference, missense
rs121912465 Pathogenic, Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730] 75,727,227(+) AGAGC(C/T)GCACG reference, missense
rs121912466 Pathogenic, Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] 75,742,591(+) CCGGG(A/G)CATGG reference, missense
rs121912467 Pathogenic, Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730] 75,752,221(+) AGAAC(A/C/T)GGATG reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for ITGB4 Gene

Variant ID Type Subtype PubMed ID
dgv5775n54 CNV loss 21841781
dgv5776n54 CNV loss 21841781
dgv5777n54 CNV loss 21841781
nsv470603 CNV loss 18288195
nsv470606 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv817772 CNV loss 17921354
nsv833544 CNV loss 17160897
nsv833545 CNV gain 17160897
nsv952369 CNV deletion 24416366

Variation tolerance for ITGB4 Gene

Residual Variation Intolerance Score: 38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGB4 Gene

Human Gene Mutation Database (HGMD)
ITGB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB4 Gene

Disorders for ITGB4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ITGB4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa, junctional, with pyloric stenosis
  • epidermolysis bullosa, junctional, with pyloric atresia
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa, junctional, localisata variant
epidermolysis bullosa simplex, weber-cockayne type
  • epidermolysis bullosa of hands and feet
epidermolysis bullosa simplex with pyloric atresia
  • ebs-pa
itgb4-related epidermolysis bullosa with pyloric atresia
  • epidermolysis bullosa, hemidesmosomal variant
- elite association - COSMIC cancer census association via MalaCards
Search ITGB4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITB4_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. {ECO:0000269 PubMed:10873890, ECO:0000269 PubMed:11251584, ECO:0000269 PubMed:11328943, ECO:0000269 PubMed:9422533, ECO:0000269 PubMed:9546354, ECO:0000269 PubMed:9792864, ECO:0000269 PubMed:9892956}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269 PubMed:10792571}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ITGB4

Genetic Association Database (GAD)
ITGB4
Human Genome Epidemiology (HuGE) Navigator
ITGB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGB4
genes like me logo Genes that share disorders with ITGB4: view

No data available for Genatlas for ITGB4 Gene

Publications for ITGB4 Gene

  1. Polymorphisms in predicted microRNA-binding sites in integrin genes and breast cancer: ITGB4 as prognostic marker. (PMID: 18550570) Brendle A. … FAPrsti A. (Carcinogenesis 2008) 3 22 46 64
  2. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. (PMID: 11251584) Ashton G.H.S. … McGrath J.A. (Br. J. Dermatol. 2001) 3 4 22 64
  3. Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population. (PMID: 11289717) Hirano A. … Emi M. (J. Hum. Genet. 2001) 3 4 22 64
  4. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. (PMID: 11328943) Nakano A. … Uitto J. (Pediatr. Res. 2001) 3 4 22 64
  5. The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression. (PMID: 11375975) Favre B. … Borradori L. (J. Biol. Chem. 2001) 3 4 22 64

Products for ITGB4 Gene

  • Addgene plasmids for ITGB4

Sources for ITGB4 Gene

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