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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
External Ids for ITGB4 Gene
- HGNC: 6158
- NCBI Entrez Gene: 3691
- Ensembl: ENSG00000132470
- OMIM®: 147557
- UniProtKB/Swiss-Prot: P16144
Previous GeneCards Identifiers for ITGB4 Gene
- GC17P073492
- GC17P076743
- GC17P074181
- GC17P074314
- GC17P071229
- GC17P073717
- GC17P069141
Summaries 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 Phagocytosis of Microbes and ERK Signaling. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor binding. An important paralog of this gene is ITGB1.
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).
Additional gene information for ITGB4 Gene
- HGNC (6158)
- NCBI Entrez Gene (3691)
- Ensembl (ENSG00000132470)
- OMIM® (147557)
- UniProtKB/Swiss-Prot (P16144)
- Open Targets Platform(ENSG00000132470)
- Monarch Initiative
- Search for ITGB4 at DataMed
- Search for ITGB4 at HumanCyc
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 Pubs
Promoters and enhancers for ITGB4 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 ITGB4 on the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr17:75,721,328-75,757,819
- (GRCh38/hg38)
- Size:
- 36,492 bases
- Orientation:
- Plus strand
Previous Assembly
- chr17:73,717,539-73,753,899
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 36,361 bases
- Orientation:
- Plus strand
- chr17:73,717,408-73,753,899
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
ITGB4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- NX_P16144 (NX_P16144-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- ITB4_HUMAN (1417)
Other Protein References for ITGB4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ Integrin ß4 Antibody
- NSJ Bioreagents ITGB4 Antibody
- Novus Biologicals Antibodies for ITGB4
-
Abcam antibodies for ITGB4
- Invitrogen Antibodies for ITGB4 (AFLGC-ITGB4)
- antibodies-online: Show 77 available Integrin beta 4 Antibodies ranked by validation data
- Compare Top Integrin beta 4 Antibodies
-
Recommended
- 64 WB Antibodies (anti-mouse)
- 15 FACS Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 184 WB Antibodies (anti-human)
- 27 IF Antibodies (anti-human)
- 24 FACS Antibodies (anti-human)
- 8 IP Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 4 IHC (fro) Antibodies (anti-human)
- 42 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IP Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ITGB4
- Sino Biological Antibodies for ITGB4
Protein products for research
-
OriGene Purified Proteins for ITGB4
- Search Origene for MassSpec and Protein Over-expression Lysates for ITGB4
- Origene Custom Protein Services for ITGB4
- Novus Biologicals proteins for ITGB4
- ProSpec Recombinant Proteins for ITGB4
-
Abcam proteins for ITGB4
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
- InterPro:
- Blocks:
-
- Fibronectin type III repeat signature
- Integrin beta, C-terminal
- ProtoNet:
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
P16144UniProtKB/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.
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
| 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 | IEA,IPI | 2649503 |
| GO:0031994 | contributes_to insulin-like growth factor I binding | IDA | 22351760 |
| GO:0038132 | contributes_to neuregulin binding | IDA | 20682778 |
Phenotypes for ITGB4 Gene
- MGI mutant phenotypes for ITGB4:
-
inferred from 7 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- digestive/alimentary phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- craniofacial phenotype
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for ITGB4:
Animal Models for ITGB4 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ITGB4 - Starting at $85 >
- * ITGB4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ITGB4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITGB4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITGB4
miRNA for ITGB4 Gene
- miRTarBase miRNAs that target ITGB4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITGB4
- Browse OriGene Inhibitory RNA Products For ITGB4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB4
Clone products for research
- Applied Biological Materials (abm): Clones for ITGB4 - Starting at $45 >
- * ITGB4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ITGB4
- Addgene plasmids for ITGB4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITGB4
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 4 |
| cytoskeleton | 2 |
| cytosol | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cell Junctions (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005604 | basement membrane | IEA | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005925 | focal adhesion | IBA | 21873635 |
| GO:0008305 | integrin complex | IEA | -- |
Pathways & Interactions for ITGB4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
|
Actin-Based Motility by Rho Family GTPases
.62
Rap1 Pathway
.57
|
| 2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 3 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Transendothelial Migration of Leukocytes
.38
|
| 4 | Focal Adhesion |
.61
.61
|
HGF Pathway
.33
|
| 5 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
RhoA Pathway
.35
|
Pathways by source for ITGB4 Gene
3 Sino Biological pathways for ITGB4 Gene
10 BioSystems pathways for ITGB4 Gene
9 Reactome pathways for ITGB4 Gene
8 KEGG pathways for ITGB4 Gene
1 GeneGo (Thomson Reuters) pathway for ITGB4 Gene
- Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
2 R&D Systems pathways for ITGB4 Gene
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
Interacting Proteins for ITGB4 Gene
Selected Interacting proteins:
P16144-ITB4_HUMAN
ENSP00000200181
for ITGB4 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ITGB4
SIGNOR curated interactions 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 | IEA,IMP | 23496044 |
| GO:0007229 | integrin-mediated signaling pathway | IEA,IBA | 21873635 |
Drugs & Compounds for ITGB4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| R1295 | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
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 :
-
- ENST00000200181 5896 nts (view in UCSC)
- ENST00000449880 5689 nts (view in UCSC)
- ENST00000450894 5645 nts (view in UCSC)
- ENST00000578318 688 nts (view in UCSC)
- ENST00000579211 411 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ITGB4 - Starting at $85 >
- * ITGB4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ITGB4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITGB4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITGB4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITGB4
- Browse OriGene Inhibitory RNA Products For ITGB4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB4
Clone products for research
- Applied Biological Materials (abm): Clones for ITGB4 - Starting at $45 >
- * ITGB4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ITGB4
- Addgene plasmids for ITGB4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITGB4
| 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 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
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| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Dental Placode Cells Dental Placode
- Inner Enamel Epithelial Cells Dental Enamel
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Outer Enamel Epithelial Cells Dental Enamel
- Primary Hair Placode Cells Hair Follicle
-
Eye (Sensory Organs)
- Mature Endothelial Cells Corneal Endothelium
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
- Limbal epithelial stem cells
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
- Primary Enamel Knot Cells Enamel Knot
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
- Outer Enamel Epithelial Cells Dental Enamel
-
Peripheral Nervous System (Nervous System)
- Pro-myelinating Schwann Cells Peripheral Nerve Domain
- Schwann Precursor Cells Peripheral Nerve Domain
- Myelinating Schwann Cells Peripheral Nerve Domain
- Schwann-like cells(Keilhoff G et. al. 2006)
- Schwann-like cells(Martens W et. al. 2013)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Myelinating Schwann Cells Peripheral Nerve Domain
- Schwann-like cells(Keilhoff G et. al. 2006)
- Schwann-like cells(Martens W et. al. 2013)
-
Epidermis (Integumentary System)
- Intermediate Keratinocytes Embryonic Epidermis
- Basal Keratinocytes Embryonic Epidermis
- human epithelial stem cells(Yang R et. al. 2014)
- Keratinocytes-like cells(Guenou H et. al. 2009)
-
Hair (Integumentary System)
- Primary Hair Placode Cells Hair Follicle
- Basal Keratinocytes Embryonic Epidermis
- human epithelial stem cells(Yang R et. al. 2014)
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Cerebral Cortex
- Neural Crest (Gastrulation Derivatives)
-
Placenta (Extraembryonic Tissues)
- Villous Cytotrophoblast Cells Chorionic Villus
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Corneal Endothelium
-
Liver (Hepatobiliary System)
- Biliary Epithelial Cells Intrahepatic Biliary Tree
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Stomach (Gastrointestinal Tract)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGB4
SOURCE GeneReport for Unigene cluster for ITGB4 Gene:
Hs.632226mRNA 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
- Nervous system(4.7)
- Pancreas(4.6)
- Lung(4.6)
- Bone marrow(4.3)
- Intestine(4.1)
- Skin(3.1)
- Stomach(2.4)
- Eye(2.3)
- Heart(2.3)
- Spleen(2.2)
- Kidney(2.1)
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
Primer products for research
-
OriGene qPCR primer pairs for ITGB4
Gene Expression Assays for research
Orthologs for ITGB4 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ITGB4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| ITGB4 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | ITGB4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Itgb4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Itgb4 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ITGB4 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | ITGB4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ITGB4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | itgb4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | itgb4 30 31 |
|
OneToOne | |
| wufb72e01 30 |
|
||||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for ITGB4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
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
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 |
|---|---|---|---|---|---|
| 888689 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,721,464(+) |
A/C NM_000213.5(ITGB4):c.-159A>C |
FIVE_PRIME_UTR | |
| 888690 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,727,208(+) |
G/C NM_000213.5(ITGB4):c.93G>C (p.Lys31Asn) |
MISSENSE | |
| 888691 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,727,286(+) |
C/T NM_000213.5(ITGB4):c.162+9C>T |
INTRON | |
| 888692 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,727,685(+) |
A/G NM_000213.5(ITGB4):c.299A>G (p.Gln100Arg) |
MISSENSE | |
| 888755 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,731,941(+) |
G/A NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB4 Gene
Disorders for ITGB4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermolysis bullosa junctionalis with pyloric atresia |
|
|
| epidermolysis bullosa, junctional, non-herlitz type |
|
|
| epidermolysis bullosa simplex, localized |
|
|
| epidermolysis bullosa with pyloric atresia |
|
|
| epidermolysis bullosa simplex with pyloric atresia |
|
|
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 variants 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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for ITGB4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ITGB4 Gene
Publications for ITGB4 Gene
- 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 74
- BPAG1e maintains keratinocyte polarity through beta4 integrin-mediated modulation of Rac1 and cofilin activities. (PMID: 19403692) Hamill KJ … Jones JC (Molecular biology of the cell 2009) 3 4 23
- 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
- Palmitoylation supports assembly and function of integrin-tetraspanin complexes. (PMID: 15611341) Yang X … Hemler ME (The Journal of cell biology 2004) 3 4 23
- 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
ExternalLinks
Products for ITGB4 Gene
- View all 23 R&D Systems ITGB4 (Integrin beta 4/CD104) Products
- View all 20 R&D Systems ITGB4 (Integrin beta 4/CD104) Primary Antibodies
- View all R&D Systems ITGB4 (Integrin beta 4/CD104) Proteome Profiler Antibody Arrays
- View all 2 R&D Systems ITGB4 (Integrin beta 4/CD104) cDNA Clones
- Learn more about R&D Systems custom ITGB4 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for ITGB4
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ITGB4
- Search Origene for MassSpec and Protein Over-expression Lysates for ITGB4
- Origene Custom Protein Services for ITGB4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITGB4
- Browse OriGene Inhibitory RNA Products For ITGB4
- OriGene qPCR primer pairs for ITGB4
- OriGene CRISPR knockouts for ITGB4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ITGB4
- Sino Biological Human cDNA Clone for ITGB4
- Browse Sino Biological Recombinant Proteins
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- Sino Biological Antibodies for ITGB4
- Browse Sino Biological Assays
- Browse Antibodies
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for ITGB4
- Novus Biologicals proteins for ITGB4
- Browse Antibodies
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for ITGB4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ITGB4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ITGB4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ITGB4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ITGB4
- Addgene plasmids for ITGB4
- antibodies-online: Show 77 available Integrin beta 4 Antibodies ranked by validation data
- Compare Top Integrin beta 4 Antibodies
- Recommended
- 64 WB Antibodies (anti-mouse)
- 15 FACS Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 184 WB Antibodies (anti-human)
- 27 IF Antibodies (anti-human)
- 24 FACS Antibodies (anti-human)
- 8 IP Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 4 IHC (fro) Antibodies (anti-human)
- 42 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IP Antibody (anti-rat)
- antibodies-online: Show 25 available Integrin beta 4 Elisa Kits ranked by validation data
- Compare Top Integrin beta 4 Elisa Kits
- antibodies-online: Show 10 available Integrin beta 4 Proteins ranked by validation data
- Compare Top Integrin beta 4 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ITGB4
- Search Santa Cruz Biotechnology (SCBT) for ITGB4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ITGB4
- Horizon Cell Lines for ITGB4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITGB4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITGB4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ITGB4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB4
Sources for ITGB4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB