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Aliases for ITGB4 Gene

Aliases for ITGB4 Gene

  • Integrin, Beta 4 2 3
  • CD104 Antigen 3 4
  • GP150 3 4
  • Integrin Beta-4 Subunit 3
  • 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, Beta 4) is a Protein Coding gene. Diseases associated with ITGB4 include epidermolysis bullosa, junctional, with pyloric stenosis and epidermolysis bullosa with pyloric atresia. Among its related pathways are PI3K-Akt signaling pathway and Regulation of actin cytoskeleton. GO annotations related to this gene include receptor activity. An important paralog of this gene is ITGB2.

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.

Gene Wiki entry for ITGB4 Gene

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

Genomics for ITGB4 Gene

Regulatory Elements for ITGB4 Gene

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

Genomic Location for ITGB4 Gene

Start:
75,721,328 bp from pter
End:
75,757,818 bp from pter
Size:
36,491 bases
Orientation:
Plus strand

Genomic View for ITGB4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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

Proteomics data for ITGB4 Gene at MOPED

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 Asn327, Asn491, Asn579, Asn617, and Asn695
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGB4 Gene

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 for ITGB4 Gene

Gene Families for ITGB4 Gene

HGNC:
  • CD :CD molecules
  • FN3 :Fibronectin type III domain containing
  • ITG :Integrins

Suggested Antigen Peptide Sequences for ITGB4 Gene

Graphical View of Domain Structure for InterPro Entry

P16144

UniProtKB/Swiss-Prot:

ITB4_HUMAN :
  • P16144
Domain:
  • The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230
  • Contains 1 Calx-beta domain.
  • Contains 4 fibronectin type-III domains.
  • Contains 1 PSI domain.
  • Contains 1 VWFA domain.
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.

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 11375975
genes like me logo Genes that share ontologies with ITGB4: view
genes like me logo Genes that share phenotypes with ITGB4: view

Animal Models for ITGB4 Gene

MGI Knock Outs for ITGB4:

Animal Model Products

miRNA for ITGB4 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ITGB4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for ITGB4 Gene COMPARTMENTS Subcellular localization image for ITGB4 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
extracellular 2
cytosol 1
golgi apparatus 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITGB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex IEA --
GO:0009925 basal plasma membrane IEA --
GO:0009986 cell surface IDA 19933311
genes like me logo Genes that share ontologies with ITGB4: view

Pathways for ITGB4 Gene

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

PCR Array Products

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 --
GO:0007155 cell adhesion NAS 2311577
GO:0007160 cell-matrix adhesion IMP 23496044
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with ITGB4: view

Compounds for ITGB4 Gene

(12) Novoseek inferred chemical compound relationships for ITGB4 Gene

Compound -log(P) Hits PubMed IDs
safrole oxide 81.6 5
kalinin 63.8 2
matrigel 54.5 2
tyrosine 31.3 14
calcipotriol 25.7 1
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for ITGB4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ITGB4

Flow Cytometry Products

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 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 (5.4), Minor Salivary Gland (5.1), and Skin - Sun Exposed (Lower leg) (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITGB4 Gene

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

In Situ Assay 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 35
  • 97.77 (n)
  • 97.6 (a)
ITGB4 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITGB4 35
  • 87.41 (n)
  • 87.77 (a)
ITGB4 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
ITGB4 35
  • 85.98 (n)
  • 85.58 (a)
mouse
(Mus musculus)
Mammalia Itgb4 35
  • 82.84 (n)
  • 84.05 (a)
Itgb4 16
Itgb4 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITGB4 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Itgb4 35
  • 85.02 (n)
  • 86.86 (a)
chicken
(Gallus gallus)
Aves ITGB4 35
  • 70.44 (n)
  • 66.11 (a)
ITGB4 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGB4 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb4 35
  • 64.1 (n)
  • 63.25 (a)
zebrafish
(Danio rerio)
Actinopterygii itgb4 35
  • 59.65 (n)
  • 56.15 (a)
itgb4 36
  • 51 (a)
OneToOne
wufb72e01 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
Species with no ortholog for ITGB4:
  • 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 MAF
rs8669 -- 75,754,778(+) CTGCC(C/G)AGGGA reference, synonymous-codon
rs11465 -- 75,757,222(+) GGCAG(C/T)CGTGC reference, synonymous-codon
rs11759 -- 75,752,523(+) GCGAT(G/T)ACGTT reference, missense
rs13623 -- 75,757,249(+) CCGCT(A/G)CAAAG synonymous-codon, reference
rs743685 -- 75,755,017(-) AGGGA(A/G)TGtgc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv516133 CNV Loss 19592680
nsv470603 CNV Loss 18288195
nsv908794 CNV Loss 21882294
dgv3264n71 CNV Loss 21882294
nsv833544 CNV Loss 17160897
dgv3266n71 CNV Loss 21882294
nsv908803 CNV Gain 21882294
nsv817772 CNV Loss 17921354
nsv908804 CNV Loss 21882294
dgv3267n71 CNV Loss 21882294
dgv3268n71 CNV Loss 21882294
nsv833545 CNV Gain 17160897
dgv3269n71 CNV Loss 21882294
nsv908812 CNV Loss 21882294
nsv470606 CNV Loss 18288195
nsv908819 CNV Loss 21882294

Relevant External Links for ITGB4 Gene

HapMap Linkage Disequilibrium report
ITGB4
Human Gene Mutation Database (HGMD)
ITGB4

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

Disorders for ITGB4 Gene

(3) OMIM Diseases for ITGB4 Gene (147557)

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.

(1) University of Copenhagen DISEASES for ITGB4 Gene

(59) Novoseek inferred disease relationships for ITGB4 Gene

Disease -log(P) Hits PubMed IDs
pyloric atresia 93.2 24
eb-pa 88.6 5
epidermolysis bullosa junctional 87.5 15
pemphigoid bullous 83.7 22
epidermolysis bullosa 80.6 15

Relevant External Links for ITGB4

GeneTests
ITGB4
GeneReviews
ITGB4
Genetic Association Database (GAD)
ITGB4
Human Genome Epidemiology (HuGE) Navigator
ITGB4
genes like me logo Genes that share disorders with ITGB4: view

Publications for ITGB4 Gene

  1. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4). (PMID: 9422533) Pulkkinen L. … Uitto J. (Am. J. Pathol. 1998) 3 4 23
  2. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. (PMID: 9546354) Pulkkinen L. … Uitto J. (Am. J. Pathol. 1998) 3 4 23
  3. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. (PMID: 9792864) Pulkkinen L. … Uitto J. (Am. J. Hum. Genet. 1998) 3 4 23
  4. Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. (PMID: 9892956) Mellerio J.E. … Eady R.A.J. (Br. J. Dermatol. 1998) 3 4 23
  5. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. (PMID: 9194858) Pulkkinen L. … Uitto J. (Lab. Invest. 1997) 3 4 23

Products for ITGB4 Gene

  • Addgene plasmids for ITGB4

Sources for ITGB4 Gene

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