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Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR4C12 (Olfactory Receptor Family 4 Subfamily C Member 12) is a Protein Coding gene. Diseases associated with OR4C12 include Childhood Central Nervous System Primitive Neuroectodermal Neoplasm and Pineoblastoma. Among its related pathways are Signaling by GPCR and Olfactory transduction. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is OR4C13.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IBA | -- |
GO:0004930 | G protein-coupled receptor activity | IEA | -- |
GO:0004984 | olfactory receptor activity | 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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | Olfactory transduction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | IBA | -- |
GO:0007608 | sensory perception of smell | IEA | -- |
GO:0050896 | response to stimulus | IEA | -- |
GO:0050911 | detection of chemical stimulus involved in sensory perception of smell | IEA | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC466885 30 |
|
||
OR4C12 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | OR4C12 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | OR4C12 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Or4c12b 46 Olfr1255 30 17 31 |
|
OneToMany |
|
Or4c12 46 Olfr1259 31 |
|
OneToMany |
|
||
Or4c58 46 Olfr48 |
|
|
|||
Platypus (Ornithorhynchus anatinus) |
Mammalia | OR4C12 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193920780 | Uncertain Significance: Malignant tumor of prostate | 49,982,428(-) | G/A | MISSENSE_VARIANT | |
rs4598671 | - | p.Val283Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1128n100 | CNV | gain | 25217958 |
dgv1130n100 | CNV | gain | 25217958 |
dgv1813n54 | CNV | gain | 21841781 |
esv2760533 | CNV | gain+loss | 21179565 |
esv33425 | CNV | gain | 17666407 |
esv3626326 | CNV | gain | 21293372 |
esv3892002 | CNV | gain | 25118596 |
esv3892003 | CNV | gain | 25118596 |
nsv1048074 | CNV | gain | 25217958 |
nsv428254 | CNV | loss | 18775914 |
nsv467876 | CNV | gain | 19166990 |
Disorder | Aliases | PubMed IDs |
---|---|---|
childhood central nervous system primitive neuroectodermal neoplasm |
|
|
pineoblastoma |
|
|
pineal gland cancer |
|
|
central nervous system primitive neuroectodermal neoplasm |
|
|