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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]
OR2T4 (Olfactory Receptor Family 2 Subfamily T Member 4) is a Protein Coding gene. Diseases associated with OR2T4 include Autosomal Recessive Non-Syndromic Intellectual Disability. 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 OR2T5.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH01J248471 | Enhancer | 0.5 | FANTOM5 | 6.6 | +110.2 | 110171 | 0.4 | MAFG HDGF ZNF207 TARDBP | OR2T3 OR14I1 OR2T1 OR2M2 OR2M7 OR2M5 OR2M4 OR2T33 OR2T6 OR2M3 |
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 mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC469770 30 |
|
||
OR2T4 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | LOC482236 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | LOC615281 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Olfr330 30 17 31 |
|
ManyToMany | |
Olfr328 17 31 |
|
ManyToMany | |||
Olfr224 17 31 |
|
ManyToMany | |||
Olfr331 17 31 |
|
ManyToMany | |||
Olfr325 17 31 |
|
ManyToMany | |||
Olfr329 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs57795102 | - | p.Asn31Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv17e55 | CNV | loss | 17911159 |
dgv20n17 | CNV | loss | 16327808 |
dgv606n100 | CNV | gain | 25217958 |
dgv607n100 | CNV | loss | 25217958 |
dgv608n100 | CNV | gain | 25217958 |
dgv613n100 | CNV | loss | 25217958 |
dgv906n54 | CNV | gain | 21841781 |
esv2728151 | CNV | deletion | 23290073 |
esv2728162 | CNV | deletion | 23290073 |
esv2750832 | CNV | gain | 17911159 |
esv2750835 | CNV | gain | 17911159 |
esv2759015 | CNV | gain+loss | 17122850 |
esv3589547 | CNV | gain | 21293372 |
esv3891415 | CNV | gain | 25118596 |
nsv1001474 | CNV | gain | 25217958 |
nsv1004790 | CNV | gain | 25217958 |
nsv1013273 | CNV | gain | 25217958 |
nsv1127074 | CNV | deletion | 24896259 |
nsv1135761 | CNV | deletion | 24896259 |
nsv428357 | CNV | loss | 18775914 |
nsv515858 | CNV | gain+loss | 19592680 |
nsv5332 | CNV | deletion | 18451855 |
nsv549603 | CNV | loss | 21841781 |
nsv549626 | CNV | loss | 21841781 |
nsv549630 | CNV | loss | 21841781 |
nsv9125 | CNV | gain | 18304495 |
nsv945466 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive non-syndromic intellectual disability |
|
|