CMKLR1

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

Basic information

Region (hg38): 12:108288044-108339317

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.

not_specified (55 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. These statistics are base on transcript: NM_001142343.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			56 clinvar	1 clinvar	1 clinvar	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	1	1

Loading clinvar variants...

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