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This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]
CLEC12A (C-Type Lectin Domain Family 12 Member A) is a Protein Coding gene. Diseases associated with CLEC12A include Coffin-Siris Syndrome 2 and 3Mc Syndrome. Among its related pathways are Innate Immune System and C-type lectin receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is CLEC12B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030246 | carbohydrate binding | IEA | -- |
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:0035579 | specific granule membrane | TAS | -- |
GO:0070821 | tertiary granule membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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|
2 | C-type lectin receptor signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0043312 | neutrophil degranulation | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | ||||||||||||||||||||
SP3: | - | ||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLEC12A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLEC12A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLEC12A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Clec12a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Clec12a 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs479499 | - | p.Lys244Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1374n100 | CNV | gain | 25217958 |
nsv1038226 | CNV | gain | 25217958 |
nsv1044587 | CNV | loss | 25217958 |
nsv1051530 | CNV | gain | 25217958 |
nsv523050 | CNV | loss | 19592680 |
nsv525593 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coffin-siris syndrome 2 |
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3mc syndrome |
|
|
human immunodeficiency virus type 1 |
|
|
immune deficiency disease |
|
|
myelodysplastic syndrome |
|
|