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    PMCHL2 pro-melanin concentrating hormone like 2 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 5370, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PMCHL2provided by HGNC
    Official Full Name
    pro-melanin concentrating hormone like 2 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:9111
    See related
    Ensembl:ENSG00000290836 MIM:176794; AllianceGenome:HGNC:9111
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable type 1 melanin-concentrating hormone receptor binding activity. Predicted to be involved in chemical synaptic transmission and signal transduction. Predicted to be located in synapse. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See PMCHL2 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71375785..71385993)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71857125..71867332)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70671612..70681820)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900993 Neighboring gene GUSB pseudogene 17 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene uncharacterized LOC105379016 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70584717-70585542 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70585543-70586368 Neighboring gene long intergenic non-protein coding RNA 2197 Neighboring gene uncharacterized LOC105379025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:70694085-70694716 Neighboring gene uncharacterized LOC107987420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70750413-70751339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70751340-70752265 Neighboring gene sterol carrier protein 2 pseudogene Neighboring gene BDP1 general transcription factor IIIB subunit

    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
    • 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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    Related articles in PubMed

    1. Birth of two chimeric genes in the Hominidae lineage. Courseaux A, et al. Science, 2001 Feb 16. PMID 11181993
    2. Structure and expression of the variant melanin-concentrating hormone genes: only PMCHL1 is transcribed in the developing human brain and encodes a putative protein. Viale A, et al. Mol Biol Evol, 2000 Nov. PMID 11070051
    3. Assignment of the human pro-melanin-concentrating hormone gene (PMCH) to chromosome 12q23-q24 and two variant genes (PMCH1 and PMCHL2) to chromosome 5p14 and 5q12-q13. Pedeutour F, et al. Genomics, 1994 Jan 1. PMID 8188237
    4. Primate-specific spliced PMCHL RNAs are non-protein coding in human and macaque tissues. Schmieder S, et al. BMC Evol Biol, 2008 Dec 9. PMID 19068116, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables melanin-concentrating hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables type 1 melanin-concentrating hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of synaptic transmission, dopaminergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    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.

    RNA

    1. NR_003922.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC145141, AY008413
      Related
      ENST00000415808.1

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      71375785..71385993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1374288..1384497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      905763..915972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      71857125..71867332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031888.1: Suppressed sequence

      Description
      NM_031888.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_153381.1: Suppressed sequence

      Description
      NM_153381.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQD1.1 GenPept UniProtKB/Swiss-Prot:Q9BQD1

    Gene LinkOut

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