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This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ITGAX (Integrin Subunit Alpha X) is a Protein Coding gene. Diseases associated with ITGAX include Hairy Cell Leukemia and Benign Cephalic Histiocytosis. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. An important paralog of this gene is ITGAD.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | TAS | 8020569 |
GO:0005515 | protein binding | IPI | 17726152 |
GO:0030971 | receptor tyrosine kinase binding | IPI | 30873824 |
GO:0038023 | signaling receptor activity | TAS | 2303426 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0008305 | integrin complex | IEA,TAS | 2303426 |
GO:0009897 | external side of plasma membrane | IEA | -- |
GO:0009986 | cell surface | IDA | 19234460 |
GO:0016020 | membrane | IEA,HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MAPK Erk Pathway |
.32
|
.32
|
2 | 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
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Transendothelial Migration of Leukocytes
.38
|
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:0007155 | cell adhesion | IEA,TAS | 2303426 |
GO:0007229 | integrin-mediated signaling pathway | IEA | -- |
GO:0008284 | positive regulation of cell proliferation | IMP | 30873824 |
GO:0009887 | animal organ morphogenesis | TAS | 3327687 |
GO:0010628 | positive regulation of gene expression | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Efalizumab | Approved, Investigational | Pharma | Target, antibody | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ITGAX 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ITGAX 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Itgax 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Itgax 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-32n7.4 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708897 | Benign: not provided | 31,363,009(+) | C/T | SYNONYMOUS_VARIANT | |
718239 | Likely Benign: not provided | 31,362,633(+) | C/T | SYNONYMOUS_VARIANT | |
725689 | Benign: not provided | 31,362,967(+) | C/T | SYNONYMOUS_VARIANT | |
729197 | Likely Benign: not provided | 31,363,038(+) | G/A | MISSENSE_VARIANT | |
735739 | Likely Benign: not provided | 31,380,304(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv503e214 | CNV | gain | 21293372 |
esv2714194 | CNV | deletion | 23290073 |
nsv1059610 | CNV | gain | 25217958 |
nsv1061980 | CNV | gain | 25217958 |
nsv833194 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hairy cell leukemia |
|
|
benign cephalic histiocytosis |
|
|
sporotrichosis |
|
|
leukocyte adhesion deficiency, type i |
|
|
histiocytosis |
|
|