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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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
OR12D2 (Olfactory Receptor Family 12 Subfamily D Member 2) is a Protein Coding gene. Diseases associated with OR12D2 include Deafness, Autosomal Dominant 13. 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 OR12D3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH06J029467 | Enhancer | 0.2 | FANTOM5 | 2.5 | +72.1 | 72068 | 0.3 | OR10C1 ZFP57 MAS1L OR11A1 OR14J1 OR2W1 OR2J3 OR2B3 OR12D2 OR5V1 |
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 chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | LOC471939 30 |
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Mouse (Mus musculus) |
Mammalia | Or12d2 46 Olfr102 30 17 |
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Or12d12 46 Olfr101 17 |
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Or12d13 46 Olfr103 |
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Or12d14-ps 46 Olfr104-ps1 |
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Or12d15 46 Olfr105 |
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Or12d16-ps 46 Olfr106-ps1 |
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Rat (Rattus norvegicus) |
Mammalia | Olr1736 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497240 30 |
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SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs886043176 | Uncertain Significance: not provided | 29,397,420(+) | GC/G | FRAMESHIFT_VARIANT | |
rs11752608 | - | p.Val132Gly | |||
rs2073151 | - | p.Val159Ile | |||
rs2073152 | - | p.Ser121Cys | |||
rs2073153 | - | p.Leu120Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10340n54 | CNV | loss | 21841781 |
esv2639371 | CNV | deletion | 19546169 |
esv2667426 | CNV | deletion | 23128226 |
esv2731760 | CNV | deletion | 23290073 |
esv2731763 | CNV | deletion | 23290073 |
nsv1074389 | CNV | deletion | 25765185 |
nsv1122126 | CNV | deletion | 24896259 |
nsv1145096 | CNV | deletion | 24896259 |
nsv830624 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
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deafness, autosomal dominant 13 |
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