CMKLR1

protein-coding

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

Gene summary

Enables adipokinetic hormone binding activity and adipokinetic hormone receptor activity. Involved in several processes, including chemotaxis; positive regulation of macrophage chemotaxis; and regulation of calcium-mediated signaling. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001142343.2

Inheritance

—

ClinVar variants

U:59B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr12:108,288,044-108,339,317

External References & Databases

Ensembl (ENSG00000174600)

Transcript & Mutation Effects

hg38 • Region Span ~51.3 kb

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GenCC 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 CMKLR1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 58

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001142343.2. 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			59 clinvar	1 clinvar	1 clinvar	61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	1	1	61

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001142343.2	RefSeq	NP_001135815.1	2	MANE Select
ENST00000550402.6	Ensembl	ENSP00000449716.1	2	MANE Select
NM_001142344.2	RefSeq	NP_001135816.1	2	Standard
NM_001142345.2	RefSeq	NP_001135817.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
Class A/1 (Rhodopsin-like receptors)
GPCR ligand binding

Biological Process

skeletal system development
complement receptor mediated signaling pathway
chemotaxis
inflammatory response
immune response

Molecular Function

G protein-coupled receptor activity
chemokine receptor activity
protein binding
signaling receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000312143
Coding exons: 2
Length: 51298
Individuals with no LoFs: 124780
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 124803
p: 0.0000921

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.536	199	221	0.899	0.0000121	2484
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00041	0.00041	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000053	0.000035	rare
South Asian	0.000098	0.000098	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

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}.;

Intolerance Scores

LoFtool: 0.684
RVIS EVS: 0.44
RVIS percentile EVS: 77.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0563

Gene Damage Prediction

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