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The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GPRC5C (G Protein-Coupled Receptor Class C Group 5 Member C) is a Protein Coding gene. Diseases associated with GPRC5C include Isolated Growth Hormone Deficiency, Type Ib. Among its related pathways are GPCRs, Class C Metabotropic glutamate, pheromone. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is GPRC5B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004930 | G protein-coupled receptor activity | TAS,IEA | -- |
GO:0030295 | protein kinase activator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0005887 | integral component of plasma membrane | TAS | 10783259 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030659 | cytoplasmic vesicle membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GPCRs, Class C Metabotropic glutamate, pheromone |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS,IEA | -- |
GO:0032147 | activation of protein kinase activity | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPRC5C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GPRC5C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GPRC5C 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gprc5c 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gprc5c 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | GPRC5C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GPRC5C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GPRC5C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GPRC5C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC496814 30 |
|
||
Str.16451 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2244 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gprc5c 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
730067 | Benign: not provided | 74,439,981(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12e196 | CNV | duplication | 17116639 |
dgv3282n100 | CNV | gain | 25217958 |
dgv372n27 | CNV | gain | 19166990 |
dgv5768n54 | CNV | gain | 21841781 |
dgv5774n54 | CNV | gain | 21841781 |
esv2751770 | CNV | gain | 17911159 |
esv2761978 | CNV | gain | 21179565 |
esv33995 | CNV | loss | 17666407 |
esv3573820 | CNV | gain | 25503493 |
esv3641230 | CNV | gain | 21293372 |
esv3641237 | CNV | gain | 21293372 |
nsv517569 | CNV | gain+loss | 19592680 |
nsv833539 | CNV | loss | 17160897 |
nsv952366 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
isolated growth hormone deficiency, type ib |
|
|