CMKLR1

chemerin chemokine-like receptor 1, the group of Chemerin receptors

Basic information

Region (hg38): 12:108288043-108339317

Links

ENSG00000174600 ∙ NCBI:1240 ∙ OMIM:602351 ∙ HGNC:2121 ∙ Uniprot:Q99788 ∙ 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 CMKLR1 gene.

• Inborn genetic diseases (20 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CMKLR1 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			20		1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	1

Variants in CMKLR1

This is a list of pathogenic ClinVar variants found in the CMKLR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-108291902-G-A		not specified	Uncertain significance (Dec 27, 2022)
12-108291935-C-A		not specified	Uncertain significance (Jan 26, 2023)
12-108291956-T-C		not specified	Uncertain significance (Oct 26, 2022)
12-108292050-C-G		not specified	Uncertain significance (May 08, 2023)
12-108292096-C-A			Benign (Jul 31, 2018)
12-108292134-G-C		not specified	Uncertain significance (Dec 01, 2022)
12-108292139-G-A		not specified	Uncertain significance (Jul 25, 2023)
12-108292195-C-G		not specified	Uncertain significance (Apr 25, 2023)
12-108292211-C-A		not specified	Uncertain significance (Nov 17, 2023)
12-108292217-C-T		not specified	Uncertain significance (Apr 21, 2022)
12-108292322-T-C		not specified	Uncertain significance (Dec 11, 2023)
12-108292356-A-T		not specified	Uncertain significance (Mar 17, 2023)
12-108292358-G-A		not specified	Uncertain significance (May 17, 2023)
12-108292368-C-T		not specified	Uncertain significance (May 25, 2022)
12-108292381-G-C		not specified	Uncertain significance (May 05, 2023)
12-108292476-T-C		not specified	Uncertain significance (Mar 07, 2023)
12-108292485-A-G		not specified	Uncertain significance (Jun 27, 2023)
12-108292491-T-C		not specified	Likely benign (Dec 18, 2023)
12-108292585-G-T		not specified	Uncertain significance (May 23, 2023)
12-108292596-T-C		not specified	Uncertain significance (Dec 09, 2023)
12-108292632-T-C		not specified	Uncertain significance (Jun 06, 2023)
12-108292638-T-A		not specified	Uncertain significance (Jan 31, 2023)
12-108292740-T-C		not specified	Uncertain significance (Mar 23, 2022)
12-108292758-T-C		not specified	Uncertain significance (Dec 21, 2023)
12-108292806-G-A		not specified	Uncertain significance (May 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CMKLR1	protein_coding	protein_coding	ENST00000312143	2	51298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0108	0.847	124780	0	23	124803	0.0000921

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.536	199	221	0.899	0.0000121	2484
Missense in Polyphen		47	58.635	0.80157		667
Synonymous	0.781	77	86.2	0.893	0.00000473	752
Loss of Function	1.19	4	7.52	0.532	3.19e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000406	0.000406
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000559	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000531	0.0000353
Middle Eastern	0.0000559	0.0000556
South Asian	0.0000980	0.0000980
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the chemoattractant adipokine chemerin/RARRES2 and for the omega-3 fatty acid derived molecule resolvin E1. Interaction with RARRES2 induces activation of intracellular signaling molecules, such as SKY, MAPK1/3 (ERK1/2), MAPK14/P38MAPK and PI3K leading to multifunctional effects, like, reduction of immune responses, enhancing of adipogenesis and angionesis. Resolvin E1 down-regulates cytokine production in macrophages by reducing the activation of MAPK1/3 (ERK1/2) and NF- kappa-B. Positively regulates adipogenesis and adipocyte metabolism. Acts as a coreceptor for several SIV strains (SIVMAC316, SIVMAC239, SIVMACL7E-FR and SIVSM62A), as well as a primary HIV-1 strain (92UG024-2). {ECO:0000269|PubMed:15728234, ECO:0000269|PubMed:15753205, ECO:0000269|PubMed:20044979, ECO:0000269|PubMed:9603476}.
• Pathway: GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding (Consensus)

Intolerance Scores

• loftool: 0.684
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.8

Haploinsufficiency Scores

• pHI: 0.0456
• hipred: N
• hipred_score: 0.170
• ghis: 0.456

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0563

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cmklr1
• Phenotype: cellular phenotype; immune system phenotype; respiratory system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: skeletal system development;complement receptor mediated signaling pathway;chemotaxis;inflammatory response;immune response;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;positive regulation of macrophage chemotaxis;negative regulation of NF-kappaB transcription factor activity;negative regulation of interleukin-12 production;positive regulation of fat cell differentiation;regulation of calcium-mediated signaling;chemokine-mediated signaling pathway;positive regulation of cold-induced thermogenesis
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;chemokine receptor activity;protein binding;signaling receptor activity