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

Gene ID: 5370, updated on 2-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 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)

Genotypes

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 molecular_function ND
No biological Data available
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 biological_process ND
No biological Data available
more info
  
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
is_active_in cellular_component ND
No biological Data available
more info
  
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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