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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, Jul 2015]
OR8B4 (Olfactory Receptor Family 8 Subfamily B Member 4) is a Protein Coding gene. Diseases associated with OR8B4 include Miles-Carpenter Syndrome. 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 odorant binding. An important paralog of this gene is OR8B3.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH11J124511 | Enhancer | 0.5 | Ensembl | 10.4 | -87.1 | -87108 | 0.4 | ZNF316 MAFG MAFK MAFF EMSY | OR8B8 OR8B4 piR-32097 OR8B9P OR8B12 | |
GH11J124595 | Enhancer | 0.4 | Ensembl | 10.2 | -175.8 | -175807 | 1.8 | POLR2A HMBOX1 NR2F6 ATF2 | OR8Q1P lnc-OR8A1-1-002 OR8B4 OR8B8 ROBO3 PANX3 lnc-OR8A1-1-001 OR8A1 | |
GH11J124642 | Enhancer | 1.1 | FANTOM5 ENCODE | 2.9 | -219.1 | -219112 | 2.4 | CTCF TEAD4 LEF1 IKZF1 JUND FOXA1 ZNF143 ZIC2 PKNOX1 ZNF24 | ZNF202 MSANTD2 TMEM218 STT3A ENSG00000254509 SPA17 OR8A1 OR8B4 OR8D1 OR8G1 | |
GH11J124454 | Enhancer | 0.2 | Ensembl | 10.5 | -29.8 | -29808 | 0.6 | OR8B10P OR8B4 OR8A2P OR8B8 OR8B12 | ||
GH11J124008 | Enhancer | 0.2 | FANTOM5 | 4 | +416.2 | 416219 | 0.4 | OR10G5P OR8D1 OR4D5 OR10G9 OR8D4 OR6T1 OR10G4 OR6M1 OR8G1 OR10S1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004930 | G protein-coupled receptor activity | IEA | -- |
GO:0004984 | olfactory receptor activity | IBA | -- |
GO:0005549 | odorant binding | IBA | -- |
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 | IBA | -- |
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 |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | OR8B4 30 |
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Cow (Bos Taurus) |
Mammalia | OR8B4 30 |
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Rat (Rattus norvegicus) |
Mammalia | Olr1202 30 |
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||
Mouse (Mus musculus) |
Mammalia | Or8b4 46 Olfr878 30 17 |
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|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10750270 | - | p.Glu22Gly | |||
rs4057749 | - | p.Cys178Arg | |||
rs4057750 | - | p.Tyr131His | |||
rs7116575 | - | p.Cys140Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3892105 | CNV | gain | 25118596 |
Disorder | Aliases | PubMed IDs |
---|---|---|
miles-carpenter syndrome |
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