GPR42 (G protein-coupled receptor 42) - Rat Genome Database

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Gene: GPR42 (G protein-coupled receptor 42) Homo sapiens
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Symbol: GPR42
Name: G protein-coupled receptor 42
RGD ID: 1352673
HGNC Page HGNC:4500
Description: Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FFAR1L; FFAR3L; G protein-coupled receptor 42 (gene/pseudogene); G protein-coupled receptor 42 pseudogene; G-protein coupled receptor; G-protein coupled receptor 42; GPR41L; GPR42P
RGD Orthologs
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,371,068 - 35,372,962 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,371,068 - 35,372,962 (+)EnsemblGRCh38hg38GRCh38
GRCh371935,861,970 - 35,863,864 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,554,102 - 40,555,142 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,554,101 - 40,555,142NCBI
Celera1932,575,706 - 32,576,746 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
CHM1_11935,863,858 - 35,864,898 (+)NCBICHM1_1
T2T-CHM13v2.01937,915,808 - 37,917,703 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9344866   PMID:12477932   PMID:12496283   PMID:15057824   PMID:15684720   PMID:19460454   PMID:19630535   PMID:21873635   PMID:26260360   PMID:32296183   PMID:36949045  


Genomics

Comparative Map Data
GPR42
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,371,068 - 35,372,962 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,371,068 - 35,372,962 (+)EnsemblGRCh38hg38GRCh38
GRCh371935,861,970 - 35,863,864 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,554,102 - 40,555,142 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,554,101 - 40,555,142NCBI
Celera1932,575,706 - 32,576,746 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
CHM1_11935,863,858 - 35,864,898 (+)NCBICHM1_1
T2T-CHM13v2.01937,915,808 - 37,917,703 (+)NCBIT2T-CHM13v2.0
FFAR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1644,837,764 - 44,841,518 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,339,498 - 40,342,218 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in GPR42
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000019.10:g.35371629C>T single nucleotide variant Malignant melanoma [RCV000063510] Chr19:35371629 [GRCh38]
Chr19:35862531 [GRCh37]
Chr19:40554371 [NCBI36]
Chr19:19q13.12		 not provided
NC_000019.10:g.35371913G>A single nucleotide variant Malignant melanoma [RCV000063511] Chr19:35371913 [GRCh38]
Chr19:35862815 [GRCh37]
Chr19:40554655 [NCBI36]
Chr19:19q13.12		 not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12		 pathogenic
GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3 copy number gain Breast ductal adenocarcinoma [RCV000207175] Chr19:35516999..35990896 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q13.12(chr19:35658728-36173537)x3 copy number gain not provided [RCV000752672] Chr19:35658728..36173537 [GRCh37]
Chr19:19q13.12		 benign
GRCh37/hg19 19q13.12(chr19:35723176-36183886)x3 copy number gain See cases [RCV000448697] Chr19:35723176..36183886 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.12(chr19:35847153-35863299)x1 copy number loss not provided [RCV000740143] Chr19:35847153..35863299 [GRCh37]
Chr19:19q13.12		 benign
GRCh37/hg19 19q13.12(chr19:35850914-35863299)x0 copy number loss not provided [RCV000740145] Chr19:35850914..35863299 [GRCh37]
Chr19:19q13.12		 benign
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) copy number loss not provided [RCV000767769] Chr19:35043556..36316644 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1 copy number loss not provided [RCV000845987] Chr19:35613953..36183886 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.12(chr19:35811335-35898248)x1 copy number loss not provided [RCV001007043] Chr19:35811335..35898248 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
Single allele deletion Dystonic disorder [RCV001003865] Chr19:35553425..36264299 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NC_000019.9:g.(?_35521725)_(36643309_?)del deletion Brugada syndrome 5 [RCV001910265] Chr19:35521725..36643309 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36229458_?)del deletion not provided [RCV001975081] Chr19:35521725..36229458 [GRCh37]
Chr19:19q13.12		 pathogenic
NC_000019.9:g.(?_35521725)_(36054531_?)dup duplication Brugada syndrome 5 [RCV001906345] Chr19:35521725..36054531 [GRCh37]
Chr19:19q13.12		 uncertain significance
Single allele deletion not provided [RCV003448708] Chr19:35225414..37357598 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
NM_001348195.2(GPR42):c.21G>C (p.Gln7His) single nucleotide variant not provided [RCV003415196] Chr19:35371380 [GRCh38]
Chr19:35862282 [GRCh37]
Chr19:19q13.12		 likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_001348195.2(GPR42):c.153C>T (p.Asp51=) single nucleotide variant not provided [RCV004546272] Chr19:35371512 [GRCh38]
Chr19:35862414 [GRCh37]
Chr19:19q13.12		 likely benign
GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1 copy number loss not provided [RCV004577477] Chr19:35223021..36895699 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:779
Count of miRNA genes:558
Interacting mature miRNAs:627
Transcripts:ENST00000454971, ENST00000597214
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
GPR42_2019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,862,528 - 35,863,427UniSTSGRCh37
GRCh371935,850,059 - 35,850,958UniSTSGRCh37
Build 361940,541,899 - 40,542,798RGDNCBI36
Celera1932,575,972 - 32,576,871UniSTS
Celera1932,563,511 - 32,564,410RGD


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1042 1269 582 644 1297 769 972 125 1101 103 796 2717 2996 5 1184 212 591 769 22

Sequence


Ensembl Acc Id: ENST00000454971   ⟹   ENSP00000410925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,371,068 - 35,372,962 (+)Ensembl
Ensembl Acc Id: ENST00000597214   ⟹   ENSP00000473212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,371,290 - 35,372,471 (+)Ensembl
RefSeq Acc Id: NM_001348195   ⟹   NP_001335124
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,371,068 - 35,372,962 (+)NCBI
T2T-CHM13v2.01937,915,808 - 37,917,703 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001335124   ⟸   NM_001348195
- UniProtKB: O15529 (UniProtKB/Swiss-Prot),   A0A0K0PUY3 (UniProtKB/TrEMBL),   A0A0K0PV74 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000473212   ⟸   ENST00000597214
Ensembl Acc Id: ENSP00000410925   ⟸   ENST00000454971
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15529-F1-model_v2 AlphaFold O15529 1-346 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4500 AgrOrtholog
COSMIC GPR42 COSMIC
Ensembl Genes ENSG00000126251 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000454971 ENTREZGENE
  ENST00000454971.3 UniProtKB/Swiss-Prot
  ENST00000597214.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126251 GTEx
HGNC ID HGNC:4500 ENTREZGENE
Human Proteome Map GPR42 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPR40-rel_orph UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2866 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2866 ENTREZGENE
OMIM 603822 OMIM
PANTHER FREE FATTY ACID RECEPTOR 2-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FREE FATTY ACID RECEPTOR 3-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28889 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPR40FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0K0PUW6_HUMAN UniProtKB/TrEMBL
  A0A0K0PUX1_HUMAN UniProtKB/TrEMBL
  A0A0K0PUY3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0K0PUY4_HUMAN UniProtKB/TrEMBL
  A0A0K0PUY8_HUMAN UniProtKB/TrEMBL
  A0A0K0PUZ1_HUMAN UniProtKB/TrEMBL
  A0A0K0PV74 ENTREZGENE, UniProtKB/TrEMBL
  A0A0K0PV78_HUMAN UniProtKB/TrEMBL
  A0A0K0PV80_HUMAN UniProtKB/TrEMBL
  A0A0K0PW36_HUMAN UniProtKB/TrEMBL
  A0A0K0PW41_HUMAN UniProtKB/TrEMBL
  A0A0K0PW46_HUMAN UniProtKB/TrEMBL
  GPR42_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 GPR42  G protein-coupled receptor 42  GPR42  G protein-coupled receptor 42 (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2011-07-27 GPR42  G protein-coupled receptor 42 (gene/pseudogene)  GPR42P  G protein-coupled receptor 42 pseudogene  Symbol and/or name change 5135510 APPROVED