MCHR2

melanin concentrating hormone receptor 2, the group of Melanin concentrating hormone receptors

Basic information

Region (hg38): 6:99918519-99994247

Previous symbols: [ "GPR145" ]

Links

ENSG00000152034 ∙ NCBI:84539 ∙ OMIM:606111 ∙ HGNC:20867 ∙ Uniprot:Q969V1 ∙ 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 MCHR2 gene.

• not_specified (39 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCHR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001040179.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			39			39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	1	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MCHR2	protein_coding	protein_coding	ENST00000281806	5	74338

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000516	0.673	125715	0	32	125747	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.512	161	180	0.893	0.00000874	2226
Missense in Polyphen		43	59.459	0.72319		805
Synonymous	-0.325	71	67.6	1.05	0.00000346	662
Loss of Function	1.02	10	14.2	0.707	7.52e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000439	0.000439
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000120	0.000114
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for melanin-concentrating hormone, coupled to G proteins that activate phosphoinositide hydrolysis.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.170

Intolerance Scores

• loftool: 0.940
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.207
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.120

Gene Damage Prediction

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

Gene ontology

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