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

Summary

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, Oct 2024]
Expression: Low expression observed in reference dataset See more
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Submit: New GeneRIF Correction

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

RH83560 (e-PCR)
- UniSTS:85011

NoName (e-PCR)
- UniSTS:494878

NoName (e-PCR)
- UniSTS:480574

RH26926 (e-PCR)
- UniSTS:87924

RH70218 (e-PCR)
- UniSTS:88439

NoName (e-PCR)
- UniSTS:484292

D5F143S1 (e-PCR)
- UniSTS:156658

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

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

71375785..71385993

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

1374288..1384497

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

905763..915972

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

71857125..71867332

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.