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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. 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]
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.
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 |
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 | -- |
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
|
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 |
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 |
---|
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: |
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 |
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 |
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 |
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 |
|
|