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This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
LAT2 (Linker For Activation Of T Cells Family Member 2) is a Protein Coding gene. Diseases associated with LAT2 include Williams-Beuren Syndrome. Among its related pathways are B cell receptor signaling pathway (KEGG) and Innate Immune System. Gene Ontology (GO) annotations related to this gene include SH2 domain binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 14722116 |
GO:0042169 | SH2 domain binding | IPI | 20442417 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0042629 | mast cell granule | IEA | -- |
GO:0045121 | membrane raft | IDA | 12486104 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | B Cell Receptor Signaling Pathway (sino) | ||
2 | Innate Immune System |
.61
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|
3 | NF-kappaB Signaling | ||
4 | RET signaling | ||
5 | PI3K/AKT activation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002764 | immune response-regulating signaling pathway | IEA | -- |
GO:0019722 | calcium-mediated signaling | IGI | 14722116 |
GO:0035556 | intracellular signal transduction | IGI | 14722116 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | LAT2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | LAT2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | LAT2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Lat2 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Lat2 32 |
|
||
chicken (Gallus gallus) |
Aves | LOC100857708 32 |
|
||
LAT2 33 33 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany |
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000276920 | -- | 74,218,886(+) | G/A | intron_variant | |
rs1000556086 | -- | 74,212,950(+) | G/A | intron_variant | |
rs1000607875 | -- | 74,217,585(+) | C/T | intron_variant | |
rs1000675249 | -- | 74,212,562(+) | C/T | intron_variant | |
rs1000916879 | -- | 74,229,892(+) | T/C | downstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3613698 | CNV | loss | 21293372 |
esv3613704 | CNV | loss | 21293372 |
esv3613705 | CNV | loss | 21293372 |
nsv1076924 | CNV | deletion | 25765185 |
nsv464563 | CNV | gain | 19166990 |
nsv607480 | CNV | gain | 21841781 |
nsv607481 | CNV | loss | 21841781 |
nsv824163 | CNV | loss | 20364138 |
nsv831030 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
williams-beuren syndrome |
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|