Free for academic non-profit institutions. Other users need a Commercial license
GPR148 (G Protein-Coupled Receptor 148) is a Protein Coding gene. Diseases associated with GPR148 include Cicatricial Entropion and Median Neuropathy. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is NMUR1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH02J130726 | Promoter/Enhancer | 1.2 | ENCODE CraniofacialAtlas | 600.7 | -1.4 | -1359 | 2.5 | SP1 CREB1 ZIC2 PKNOX1 REST POLR2A ZNF600 ZNF341 ZFX NRF1 | GPR148 RF00994-516 ENSG00000229797 POTEJ | |
GH02J130823 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 10.9 | +97.7 | 97651 | 6.2 | TEAD4 ZNF629 KDM1A BACH1 LARP7 ZNF143 RELA TCF12 IKZF2 TRIM22 | GPR148 ARHGEF4 ENSG00000233221 MZT2B CCDC74A lnc-ARHGEF4-3 AMER3 | |
GH02J130819 | Enhancer | 1 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 10.9 | +91.1 | 91130 | 2 | CTCF KDM1A ZIC2 ZNF652 NR3C1 | GPR148 ARHGEF4 ENSG00000233221 lnc-ARHGEF4-3 AMER3 | |
GH02J130824 | Enhancer | 0.7 | FANTOM5 Ensembl dbSUPER | 10.9 | +94.2 | 94216 | 0.3 | SMARCA4 | GPR148 ARHGEF4 lnc-ARHGEF4-3 AMER3 | |
GH02J130814 | Enhancer | 0.3 | Ensembl | 10.3 | +85.2 | 85231 | 0.2 | KLF4 KLF9 | GPR148 lnc-ARHGEF4-3 ARHGEF4 AMER3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IBA | -- |
GO:0004930 | G protein-coupled receptor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | IBA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPR148 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GPR148 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GPR148 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GPR148 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | LOC101885431 30 |
|
||
BX323035.1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs272128 | - | p.Thr317Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2032n106 | OTHER | inversion | 24896259 |
dgv4074n100 | CNV | gain | 25217958 |
dgv4075n100 | CNV | gain | 25217958 |
dgv616e201 | CNV | deletion | 23290073 |
dgv731e199 | CNV | deletion | 23128226 |
esv2670824 | CNV | deletion | 23128226 |
esv2759092 | CNV | gain+loss | 17122850 |
esv2760576 | CNV | gain+loss | 21179565 |
esv3575299 | CNV | gain | 25503493 |
esv3893337 | CNV | loss | 25118596 |
nsv1014723 | CNV | loss | 25217958 |
nsv1147463 | OTHER | inversion | 26484159 |
nsv428403 | CNV | loss | 18775914 |
nsv524021 | CNV | loss | 19592680 |
nsv583135 | CNV | loss | 21841781 |
nsv583136 | CNV | loss | 21841781 |
nsv7327 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cicatricial entropion |
|
|
median neuropathy |
|
|
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
|
|
branchiootic syndrome |
|
|