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    MCHR2 melanin concentrating hormone receptor 2 [ Homo sapiens (human) ]

    Gene ID: 84539, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MCHR2provided by HGNC
    Official Full Name
    melanin concentrating hormone receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:20867
    See related
    Ensembl:ENSG00000152034 MIM:606111; AllianceGenome:HGNC:20867
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLT; MCH2; MCH2R; GPR145; GPRv17; MCH-2R; MCH-R2; MCHR-2
    Summary
    Predicted to enable G protein-coupled peptide receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 3.0) and testis (RPKM 2.4) See more
    Orthologs
    all
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    Genomic context

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    See MCHR2 in Genome Data Viewer
    Location:
    6q16.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (99918519..99994223, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (101091896..101168099, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (100366395..100442099, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr6:100023517-100023714 Neighboring gene thiosulfate sulfurtransferase like domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24863 Neighboring gene CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100051429-100052268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100061850-100062398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17423 Neighboring gene ribosomal protein S3 pseudogene 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100097329-100097949 Neighboring gene PR/SET domain 13 Neighboring gene Sharpr-MPRA regulatory region 7231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100271711-100272281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100379521-100380020 Neighboring gene MCHR2 antisense RNA 1 Neighboring gene tetratricopeptide repeat domain 22 pseudogene Neighboring gene nucleophosmin 1 pseudogene 38

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results are in line with some previously performed studies suggesting that MCHR2 is not a major contributor to human obesity and the Prader Willi Syndrome phenotype
      Title: DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients.
    2. evidence for the involvement of duplications in MCHR2 in alopecia areata pathogenesis in a Central European cohort
      Title: Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
    3. This study provides new insights on the possible influence of MCHR2 and/or MCHR2-AS1 on obesity in psychiatric patients and on the pathophysiology of atypical depression.
      Title: Influence of MCHR2 and MCHR2-AS1 Genetic Polymorphisms on Body Mass Index in Psychiatric Patients and In Population-Based Subjects with Present or Past Atypical Depression.
    4. Discovery and characterization of a potent and selective antagonist of melanin-concentrating hormone receptor 2
      Title: Discovery and characterization of a potent and selective antagonist of melanin-concentrating hormone receptor 2.
    5. construction of the CHO cell line and the research of MCHR2 molecular characteristics have established a good experimental basis for the further research about the function of MCHR2 gene
      Title: Establishment of CHO cell line expressing human MCHR2 gene and research of its molecular characteristics.
    6. MCHR2 positively mediates the regulation of melanin-concentrating hormone during preadipocyte differentiation and is involved in energy balance regulation without affecting preadipocyte proliferation.
      Title: Melanin-concentrating hormone receptor 2 affects 3T3-L1 preadipocyte differentiation.
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Two complex genotypes relevant to the kynurenine pathway and melanotropin function show association with schizophrenia and bipolar disorder.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: A systematic association mapping on chromosome 6q in bipolar affective disorder--evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder.
    9. MCHR2 is not a major contributor to polygenic obesity
      Title: Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity.
    10. results of molecular simulations of MCHR2 in the free and hormone-bound forms provide suggestions on the amino acids responsible for the transfer of the structural changes from the agonist binding site to the G-protein coupling domains
      Title: Structural features of the inactive and active states of the melanin-concentrating hormone receptors: insights from molecular simulations.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in neuropeptide signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    melanin-concentrating hormone receptor 2
    Names
    G protein-coupled receptor slt
    G-protein coupled receptor 145
    MCH receptor 2
    melanin-concentrating hormone 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001040179.2 → NP_001035269.1  melanin-concentrating hormone receptor 2

      See identical proteins and their annotated locations for NP_001035269.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK123634, AL590725
      Consensus CDS
      CCDS5044.1
      UniProtKB/Swiss-Prot
      B3KVW4, E1P5D7, Q5VTV7, Q6Q377, Q969V1, Q9BXA8
      Related
      ENSP00000281806.2, ENST00000281806.7
      Conserved Domains (1) summary
      cd15339
      Location:35 → 317
      7tmA_MCHR2; melanin concentrating hormone receptor 2, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_032503.3 → NP_115892.2  melanin-concentrating hormone receptor 2

      See identical proteins and their annotated locations for NP_115892.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK123634, AL590725
      Consensus CDS
      CCDS5044.1
      UniProtKB/Swiss-Prot
      B3KVW4, E1P5D7, Q5VTV7, Q6Q377, Q969V1, Q9BXA8
      Related
      ENSP00000358214.1, ENST00000369212.2
      Conserved Domains (1) summary
      cd15339
      Location:35 → 317
      7tmA_MCHR2; melanin concentrating hormone receptor 2, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      99918519..99994223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446571.2 → XP_024302339.1  melanin-concentrating hormone receptor 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KVW4, E1P5D7, Q5VTV7, Q6Q377, Q969V1, Q9BXA8
      Conserved Domains (1) summary
      cd15339
      Location:35 → 317
      7tmA_MCHR2; melanin concentrating hormone receptor 2, member of the class A family of seven-transmembrane G protein-coupled receptors

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      101091896..101168099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356560.1 → XP_054212535.1  melanin-concentrating hormone receptor 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KVW4, E1P5D7, Q5VTV7, Q6Q377, Q969V1, Q9BXA8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969V1.1 GenPept UniProtKB/Swiss-Prot:Q969V1

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