CMKLR2
protein-codingchemerin chemokine-like receptor 2, the group of Chemerin receptors
Gene summary
Enables adipokinetic hormone binding activity and adipokinetic hormone receptor activity. Predicted to be involved in glucose homeostasis and neuropeptide signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
- GPR1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~42.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CMKLR2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001389445.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 55 | 55 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 55 | 1 | 0 | 56 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001376374.1 | 1 | MANE Select | |
| Ensembl | ENSP00000483003.1 | 1 | MANE Select | |
| RefSeq | NP_001091669.1 | 1 | Standard | |
| RefSeq | NP_001248381.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- GPCRs, Class A Rhodopsin-like
Biological Process
- G protein-coupled receptor signaling pathway
- neuropeptide signaling pathway
Molecular Function
- G protein-coupled receptor activity
- protein binding
- peptide binding
- neuropeptide binding
Cellular Component
- nucleoplasm
- plasma membrane
- integral component of plasma membrane
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000407325
- Coding exons
- 1
- Length
- 42732
- Individuals with no LoFs
- 125058
- Homozygous LoFs
- 3
- Heterozygous LoFs
- 686
- Defined
- 125747
- p
- 0.00274
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0119 | 182 | 182 | 1.00 | 0.00000902 | 2339 |
| Missense (PolyPhen) | 66 | 61.923 | 1.0658 | 836 | ||
| Synonymous | 0.175 | 70 | 71.9 | 0.974 | 0.00000349 | 706 |
| Loss of Function | 0.438 | 9 | 10.5 | 0.854 | 6.00e-7 | 121 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.012 | 0.012 | notable |
| Latino/Admixed American | 0.0074 | 0.0074 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.010 | 0.010 | notable |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00028 | 0.00028 | rare |
| South Asian | 0.00052 | 0.00052 | rare |
| Other | 0.00065 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for the inflammation-associated leukocyte chemoattractant chemerin/RARRES2 suggesting a role for this receptor in the regulation of inflammation. Can act as a coreceptor for HIV-1. {ECO:0000269|PubMed:18165312}.;
Recessive Scores
- pRec
- 0.125
Intolerance Scores
- LoFtool
- 0.829
- RVIS EVS
- 0.57
- RVIS percentile EVS
- 82.08
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.193
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |