Free for academic non-profit institutions. Other users need a Commercial license
By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]
SH2D1B (SH2 Domain Containing 1B) is a Protein Coding gene. Diseases associated with SH2D1B include Benign Paroxysmal Positional Nystagmus and Superior Mesenteric Artery Syndrome. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein binding, bridging. An important paralog of this gene is INPPL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 12928397 |
GO:0030674 | protein binding, bridging | TAS | 16425036 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002366 | leukocyte activation involved in immune response | ISS | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002717 | positive regulation of natural killer cell mediated immunity | ISS | -- |
GO:0045087 | innate immune response | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||
SP2: | - | ||||||||||||||
SP3: | - | - | - | ||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SH2D1B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SH2D1B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sh2d1b1 30 17 31 |
|
OneToMany | |
Sh2d1b2 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | SH2D1B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sh2d1b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SH2D1B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SH2D1B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SH2D1B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486929 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-11p10.10 30 |
|
||
SH2D1B 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34001279 | - | p.Asn122Lys | |||
rs35688243 | - | p.Ile36Thr |
Disorder | Aliases | PubMed IDs |
---|---|---|
benign paroxysmal positional nystagmus |
|
|
superior mesenteric artery syndrome |
|
|
episodic ataxia, type 2 |
|
|
selective immunoglobulin deficiency disease |
|
|
spinal muscular atrophy, type ii |
|
|