CMKLR2

chemerin chemokine-like receptor 2, the group of Chemerin receptors

Basic information

Region (hg38): 2:206175316-206218047

Previous symbols: [ "GPR1" ]

Links

ENSG00000183671 ∙ NCBI:2825 ∙ OMIM:600239 ∙ HGNC:4463 ∙ Uniprot:P46091 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CMKLR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CMKLR2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			27		1	28
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	1

Variants in CMKLR2

This is a list of pathogenic ClinVar variants found in the CMKLR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-206176193-T-A		not specified	Uncertain significance (Apr 28, 2023)
2-206176221-A-G		not specified	Uncertain significance (Jan 26, 2025)
2-206176292-A-C		not specified	Uncertain significance (Nov 14, 2023)
2-206176301-C-T		not specified	Uncertain significance (Nov 10, 2024)
2-206176308-G-A		not specified	Uncertain significance (Mar 29, 2023)
2-206176329-T-C			Benign (Apr 19, 2019)
2-206176350-T-G		not specified	Uncertain significance (May 02, 2024)
2-206176352-A-G		not specified	Uncertain significance (Dec 14, 2023)
2-206176373-A-C		not specified	Uncertain significance (Jun 05, 2023)
2-206176385-A-AG			Likely benign (May 16, 2018)
2-206176386-G-A		not specified	Uncertain significance (Sep 28, 2022)
2-206176481-A-G		not specified	Uncertain significance (Jun 05, 2023)
2-206176497-C-A		not specified	Uncertain significance (Nov 07, 2024)
2-206176512-A-T		not specified	Uncertain significance (Jan 21, 2025)
2-206176535-A-G		not specified	Uncertain significance (Sep 29, 2023)
2-206176639-G-T		not specified	Uncertain significance (Jan 04, 2024)
2-206176641-G-T		not specified	Uncertain significance (Aug 28, 2024)
2-206176643-C-T		not specified	Uncertain significance (Jun 03, 2024)
2-206176680-T-C		not specified	Uncertain significance (May 30, 2024)
2-206176703-T-C		not specified	Uncertain significance (Jan 01, 2025)
2-206176713-C-T		not specified	Uncertain significance (Mar 07, 2025)
2-206176721-C-T		not specified	Uncertain significance (Jul 14, 2021)
2-206176772-A-G		not specified	Uncertain significance (Jun 30, 2022)
2-206176776-T-G		not specified	Uncertain significance (Mar 14, 2025)
2-206176778-A-G		not specified	Uncertain significance (Jan 01, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CMKLR2	protein_coding	protein_coding	ENST00000407325	1	42732

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000401	0.389	125058	3	686	125747	0.00274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0119	182	182	1.00	0.00000902	2339
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0198	0.0196
Ashkenazi Jewish	0.00	0.00
East Asian	0.0101	0.0101
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000282	0.000281
Middle Eastern	0.0101	0.0101
South Asian	0.000523	0.000523
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• 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}.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.829
• rvis_EVS: 0.57
• rvis_percentile_EVS: 82.08

Haploinsufficiency Scores

• pHI: 0.422
• hipred: N
• hipred_score: 0.350
• ghis: 0.449

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.193

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gpr1

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway
• Cellular component: nucleoplasm;plasma membrane;integral component of plasma membrane;intracellular membrane-bounded organelle
• Molecular function: G protein-coupled receptor activity;protein binding;peptide binding;neuropeptide binding