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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]
OR13C5 (Olfactory Receptor Family 13 Subfamily C Member 5) is a Protein Coding gene. Diseases associated with OR13C5 include Epileptic Encephalopathy, Early Infantile, 4. 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 olfactory receptor activity. An important paralog of this gene is OR13C2.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH09J104586 | Enhancer | 0.2 | ENCODE | 0.4 | +12.7 | 12718 | 0.2 | NIPSNAP3A OR13C3 OR13D1 OR13D2P OR13C5 piR-31199-381 OR13C8 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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 | IEA | -- |
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 human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC473005 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
768315 | Benign: not provided | 104,599,158(-) | G/C | MISSENSE_VARIANT | |
768316 | Likely Benign: not provided | 104,599,168(-) | T/C | SYNONYMOUS_VARIANT | |
768317 | Benign: not provided | 104,599,179(-) | G/A | MISSENSE_VARIANT | |
778947 | Benign: not provided | 104,598,728(-) | C/G | MISSENSE_VARIANT | |
rs75081605 | Benign/Likely Benign: not specified; not provided | 104,599,171(-) | C/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv150n17 | CNV | loss | 16327808 |
dgv7696n100 | CNV | gain | 25217958 |
esv22412 | CNV | loss | 19812545 |
esv2421682 | OTHER | complex | 20811451 |
esv2546770 | CNV | deletion | 19546169 |
esv2676803 | CNV | deletion | 23128226 |
esv2759707 | CNV | gain+loss | 17122850 |
esv2761260 | CNV | gain+loss | 21179565 |
esv3891705 | CNV | loss | 25118596 |
esv3891706 | CNV | gain | 25118596 |
nsv436624 | CNV | deletion | 17901297 |
nsv471313 | CNV | loss | 18288195 |
nsv517609 | CNV | gain+loss | 19592680 |
nsv825025 | CNV | loss | 20364138 |
nsv831677 | CNV | gain | 17160897 |
nsv8556 | CNV | loss | 18304495 |
nsv972439 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 4 |
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