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The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008]
CD300C (CD300c Molecule) is a Protein Coding gene. Diseases associated with CD300C include Alzheimer Disease 12 and Post-Vaccinal Encephalitis. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is CD300A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | TAS | 1349532 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 1349532 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
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3 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006968 | cellular defense response | TAS | 1349532 |
GO:0050776 | regulation of immune response | TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD300C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC526163 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | CD300C 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | RGD1561778 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd300c 30 17 31 |
|
ManyToMany | |
AF251705 31 |
|
ManyToMany | |||
Cd300a 31 |
|
ManyToMany | |||
Cd300c2 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11870245 | - | p.Thr71Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12e196 | CNV | duplication | 17116639 |
dgv3282n100 | CNV | gain | 25217958 |
dgv372n27 | CNV | gain | 19166990 |
dgv5768n54 | CNV | gain | 21841781 |
dgv5774n54 | CNV | gain | 21841781 |
esv2751770 | CNV | gain | 17911159 |
esv2761978 | CNV | gain | 21179565 |
esv33995 | CNV | loss | 17666407 |
esv3573820 | CNV | gain | 25503493 |
esv3641230 | CNV | gain | 21293372 |
esv3641244 | CNV | gain | 21293372 |
nsv470600 | CNV | loss | 18288195 |
nsv517569 | CNV | gain+loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease 12 |
|
|
post-vaccinal encephalitis |
|
|
cone-rod dystrophy 20 |
|
|
hyperoxaluria, primary, type ii |
|
|