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. Th... See more...

Aliases for ITGB4 Gene

Aliases for ITGB4 Gene

  • Integrin Subunit Beta 4 2 3 5
  • Integrin Beta-4 3 4
  • CD104 Antigen 3 4
  • GP150 3 4
  • Integrin, Beta 4 2
  • 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 Junctionalis With Pyloric Atresia and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. Among its related pathways are ERK Signaling and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor binding. An important paralog of this gene is ENSG00000259753.

UniProtKB/Swiss-Prot Summary 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). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).

Gene Wiki entry for ITGB4 Gene

Additional gene information for ITGB4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGB4 Gene

Genomics for ITGB4 Gene

GeneHancer (GH) Regulatory Elements for ITGB4 Gene

Promoters and enhancers for ITGB4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J075720 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 518.4 +1.5 1485 4.8 ZNF217 TEAD4 ZFX CTCF ZIC2 POLR2A CLOCK ZBTB26 KLF4 CHD1 ITGB4 GALK1 CDR2L CASKIN2 TMEM94 RECQL5 LLGL2 EVPL MRPS7 lnc-GALK1-3
GH17J075683 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18.1 -28.4 -28449 19.7 ZNF217 TCF12 NCOR1 JUND FOS ZIC2 REST POLR2A ZBTB11 TCF7 RECQL5 ITGB4 SAP30BP SMIM5 GALK1 TMEM94 CDR2L LLGL2 CASKIN2 MYO15B
GH17J075674 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 -46.1 -46093 1.5 FOXK2 ZNF217 CTCF CHD1 RAD21 TRIM22 GATAD2B SMC3 CTBP1 SIN3A GALK1 ITGB4 MYO15B TMEM94 ENSG00000264829 SAP30BP RECQL5
GH17J075677 Enhancer 1 ENCODE dbSUPER 12.4 -41.1 -41109 4.7 ZNF217 CTCF TCF12 REST ZNF623 KLF4 RELA CHD1 GATAD2B CTBP1 ENSG00000264829 GALK1 ITGB4 RECQL5 LLGL2 TMEM94 MRPS7 ENSG00000264270 SAP30BP
GH17J075747 Enhancer 1 ENCODE dbSUPER 11.7 +26.7 26667 0.2 ZNF217 CTCF MYC NRF1 ZIC2 ZBTB10 REST ZBTB25 CHD1 RAD21 RECQL5 SMIM5 ITGB4 UNK RF00017-2550 lnc-H3F3B-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGB4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGB4

Top Transcription factor binding sites by QIAGEN in the ITGB4 gene promoter:
  • AP-1
  • STAT3

Genomic Locations for ITGB4 Gene

Genomic Locations for ITGB4 Gene
chr17:75,721,328-75,757,819
(GRCh38/hg38)
Size:
36,492 bases
Orientation:
Plus strand
chr17:73,717,408-73,753,899
(GRCh37/hg19)
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). ITGA6:ITGB4 interacts with IGF2 (PubMed:28873464).
    SequenceCaution:
    • Sequence=CAA37656.1; Type=Frameshift; 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 secondary association with tertaspanins.
  • Glycosylation at Asn327, Asn491, Asn579, Asn617, and Asn695
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

No data available for DME Specific Peptides for ITGB4 Gene

Domains & Families for ITGB4 Gene

Gene Families for ITGB4 Gene

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

Protein Domains for ITGB4 Gene

Suggested Antigen Peptide Sequences for ITGB4 Gene

GenScript: Design optimal peptide antigens:
  • Integrin beta (A0AVL6_HUMAN)
  • Integrin beta (B7ZLD5_HUMAN)
  • Integrin beta (B7ZLD8_HUMAN)
  • GP150 (ITB4_HUMAN)
  • Integrin beta (Q0VF97_HUMAN)

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

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). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).
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

Phenotypes From GWAS Catalog for ITGB4 Gene

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:0005178 integrin binding IBA 21873635
GO:0005515 protein binding IPI,IEA 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

CRISPR Products

Clone Products

  • Addgene plasmids for ITGB4

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
nucleus 4
extracellular 3
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITGB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IBA 21873635
GO:0008305 integrin complex IEA --
GO:0009986 cell surface IDA 19933311
genes like me logo Genes that share ontologies with ITGB4: view

Pathways & Interactions for ITGB4 Gene

PathCards logo

SuperPathways for ITGB4 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
2 ERK Signaling
.61
.61
.58
.51
.49
3 Integrin Pathway
.67
.67
.56
.56
.38
4 Focal Adhesion
.33
5 MAPK-Erk Pathway
genes like me logo Genes that share pathways with ITGB4: view

Pathways by source for ITGB4 Gene

1 GeneGo (Thomson Reuters) pathway for ITGB4 Gene
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
34 Qiagen pathways for ITGB4 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
1 Cell Signaling Technology pathway for ITGB4 Gene

SIGNOR curated interactions for ITGB4 Gene

Activates:
Is activated by:
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,IBA 21873635
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

mRNA/cDNA for ITGB4 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ITGB4

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

Expression for ITGB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ITGB4 Gene



Protein tissue co-expression partners for ITGB4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 97.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 88 (a)
OneToMany
ITGB4 30
  • 85.98 (n)
-- 31
  • 71 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ITGB4 31 30
  • 87.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itgb4 30
  • 85.02 (n)
mouse
(Mus musculus)
Mammalia Itgb4 17 31 30
  • 82.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGB4 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves ITGB4 31 30
  • 70.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGB4 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb4 30
  • 64.1 (n)
zebrafish
(Danio rerio)
Actinopterygii itgb4 31 30
  • 59.65 (n)
OneToOne
wufb72e01 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITGB4: view image

Paralogs for ITGB4 Gene

(7) SIMAP similar genes for ITGB4 Gene using alignment to 9 proteins:

  • ITB4_HUMAN
  • B7ZLD5_HUMAN
  • B7ZLD8_HUMAN
  • J3KSH9_HUMAN
  • J3QQL2_HUMAN
  • J3QRK0_HUMAN
  • J3QS11_HUMAN
  • Q0VF97_HUMAN
  • Q2VP98_HUMAN
genes like me logo Genes that share paralogs with ITGB4: view

Variants for ITGB4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGB4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
595641 Uncertain Significance: not provided 75,756,554(+) C/T MISSENSE_VARIANT
rs1064795468 Likely Pathogenic: not provided 75,752,415(+) CAGGGCCCTGGCTCA/ INTRON_VARIANT
rs1179032756 Uncertain Significance: not provided 75,736,318(+) T/C MISSENSE_VARIANT
rs121912461 Pathogenic: Epidermolysis bullosa junctionalis with pyloric atresia. Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730] 75,727,853(+) T/Cp.Leu156Pro MISSENSE_VARIANT
rs121912462 Pathogenic: Epidermolysis bullosa junctionalis with pyloric atresia 75,736,053(+) C/T NONSENSE

Additional dbSNP identifiers (rs#s) for ITGB4 Gene

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)

Additional Variant Information for ITGB4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ITGB4 Gene

MalaCards: The human disease database

(26) MalaCards diseases for ITGB4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa junctionalis with pyloric atresia
  • epidermolysis bullosa, junctional, with pyloric atresia
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa junctionalis, non-herlitz type
epidermolysis bullosa simplex, localized
  • epidermolysis bullosa simplex, weber-cockayne type
epidermolysis bullosa simplex with pyloric atresia
  • ebspa
pyloric atresia
- 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.
  • Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. {ECO:0000269 PubMed:12485428}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ITGB4

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 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 … Försti A (Carcinogenesis 2008) 3 23 41 54
  2. Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. (PMID: 12485428) Jonkman MF … Steege G (The Journal of investigative dermatology 2002) 3 4 23 54
  3. 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 (The Journal of biological chemistry 2001) 3 4 23 54
  4. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. (PMID: 11251584) Ashton GH … McGrath JA (The British journal of dermatology 2001) 3 4 23 54
  5. Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population. (PMID: 11289717) Hirano A … Emi M (Journal of human genetics 2001) 3 4 23 54

Products for ITGB4 Gene

  • Addgene plasmids for ITGB4

Sources for ITGB4 Gene