This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy ... See more...

Aliases for PMCH Gene

Aliases for PMCH Gene

  • Pro-Melanin Concentrating Hormone 2 3 5
  • Pro-MCH 3 4
  • MCH 3 4
  • Prepro-Melanin-Concentrating Hormone 3
  • Pro-Melanin-Concentrating Hormone 2
  • Prepro-MCH 3
  • PpMCH 3

External Ids for PMCH Gene

Previous GeneCards Identifiers for PMCH Gene

  • GC12U990072
  • GC12M102523
  • GC12M101092
  • GC12M102590
  • GC12M099649

Summaries for PMCH Gene

Entrez Gene Summary for PMCH Gene

  • This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015]

GeneCards Summary for PMCH Gene

PMCH (Pro-Melanin Concentrating Hormone) is a Protein Coding gene. Diseases associated with PMCH include Byssinosis and Body Mass Index Quantitative Trait Locus 11. Among its related pathways are Peptide ligand-binding receptors and RET signaling. Gene Ontology (GO) annotations related to this gene include melanin-concentrating hormone activity.

UniProtKB/Swiss-Prot Summary for PMCH Gene

  • MCH may act as a neurotransmitter or neuromodulator in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. May also have a role in spermatocyte differentiation.

Additional gene information for PMCH Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMCH Gene

Genomics for PMCH Gene

GeneHancer (GH) Regulatory Elements for PMCH Gene

Promoters and enhancers for PMCH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J102198 Promoter/Enhancer 1 EPDnew Ensembl 750.6 -0.4 -365 1.2 ZNF24 SMARCA4 CREM ZBED1 IKZF1 IKZF2 SOX6 BCL11A RUNX3 FOS HELLPAR PMCH lnc-PMCH-1 RF00017-1233 RN7SL793P
GH12J102118 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 +77.4 77350 3.4 SP1 ZBTB40 ZBTB6 RBPJ SMARCE1 POLR2A CREB1 HCFC1 MIXL1 ZNF362 NUP37 PARPBP lnc-WASHC3-3 WASHC3 ENSG00000257222 PMCH ENSG00000257543 DRAM1 HE856024
GH12J102498 Enhancer 0.9 Ensembl ENCODE 10 -303.6 -303565 8.8 ZNF24 MAFK ZNF687 IKZF1 BACH1 IKZF2 ZNF316 PKNOX1 DPF2 EED PMCH NUP37 ENSG00000257254 lnc-IGF1-1 piR-32291-004
GH12J102231 Enhancer 0.5 Ensembl ENCODE CraniofacialAtlas 11.8 -34.7 -34664 1.3 ENSG00000258142 LOC100418882 lnc-PMCH-2 PMCH WASHC3 piR-49423-070 HELLPAR
GH12J102167 Enhancer 0.5 Ensembl 11.2 +29.2 29235 0.8 CREM TRIM22 BCLAF1 JUNB ATF2 NFATC1 WASHC3 PMCH IGF1 piR-49400-018 HELLPAR PARPBP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMCH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMCH gene promoter:
  • AML1a
  • c-Ets-1
  • Cart-1
  • FOXI1
  • GR
  • GR-alpha
  • GR-beta
  • HFH-3

Genomic Locations for PMCH Gene

Genomic Locations for PMCH Gene
chr12:102,196,459-102,197,836
(GRCh38/hg38)
Size:
1,378 bases
Orientation:
Minus strand
chr12:102,590,237-102,591,623
(GRCh37/hg19)
Size:
1,387 bases
Orientation:
Minus strand

Genomic View for PMCH Gene

Genes around PMCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMCH Gene

Proteins for PMCH Gene

  • Protein details for PMCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20382-MCH_HUMAN
    Recommended name:
    Pro-MCH
    Protein Accession:
    P20382
    Secondary Accessions:
    • Q16044
    • Q8WVG0

    Protein attributes for PMCH Gene

    Size:
    165 amino acids
    Molecular mass:
    18679 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PMCH Gene

Post-translational modifications for PMCH Gene

  • Differentially processed in the brain and in peripheral organs producing two neuropeptides; NEI and MCH. A third peptide, NGE, may also be produced. Preferential processing in neurons by prohormone convertase 2 (PC2) generates NEI. MCH is generated in neurons of the lateral hypothalmic area by several prohormone convertases including PC1/3, PC2 and PC5/6.

Other Protein References for PMCH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PMCH Gene

Domains & Families for PMCH Gene

Gene Families for PMCH Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PMCH Gene

Suggested Antigen Peptide Sequences for PMCH Gene

GenScript: Design optimal peptide antigens:
  • Pro-MCH (MCH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20382

UniProtKB/Swiss-Prot:

MCH_HUMAN :
  • Belongs to the melanin-concentrating hormone family.
Family:
  • Belongs to the melanin-concentrating hormone family.
genes like me logo Genes that share domains with PMCH: view

Function for PMCH Gene

Molecular function for PMCH Gene

UniProtKB/Swiss-Prot Function:
MCH may act as a neurotransmitter or neuromodulator in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. May also have a role in spermatocyte differentiation.
GENATLAS Biochemistry:
pro-melanin concentrating hormone,also encoding glutamic acid-isoleucine (NEI) and glycine-glutamic acids (NGE) neuropeptides,expressed in lateral hypotalamus area (LHA) and neighboring zona incerta (ZI),may be involved in energy balance and in feeding behaviour,ligand of GPR24

Phenotypes From GWAS Catalog for PMCH Gene

Gene Ontology (GO) - Molecular Function for PMCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030354 melanin-concentrating hormone activity IEA --
GO:0031777 type 1 melanin-concentrating hormone receptor binding IBA 21873635
genes like me logo Genes that share ontologies with PMCH: view
genes like me logo Genes that share phenotypes with PMCH: view

Animal Models for PMCH Gene

MGI Knock Outs for PMCH:
  • Pmch Pmch<tm1.1(KOMP)Vlcg>
  • Pmch Pmch<tm1Emf>
  • Pmch Pmch<tm1.1(DTR)Rpa>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PMCH Gene

Localization for PMCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMCH Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMCH gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PMCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PMCH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PMCH Gene

Pathways & Interactions for PMCH Gene

genes like me logo Genes that share pathways with PMCH: view

SIGNOR curated interactions for PMCH Gene

Activates:

Gene Ontology (GO) - Biological Process for PMCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007218 neuropeptide signaling pathway IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with PMCH: view

Drugs & Compounds for PMCH Gene

(4) Drugs for PMCH Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olanzapine Approved, Investigational Pharma Antagonist, Full agonist, Agonist, Inverse agonist 434
genes like me logo Genes that share compounds with PMCH: view

Transcripts for PMCH Gene

mRNA/cDNA for PMCH Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMCH Gene

No ASD Table

Relevant External Links for PMCH Gene

GeneLoc Exon Structure for
PMCH
ECgene alternative splicing isoforms for
PMCH

Expression for PMCH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMCH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PMCH Gene

This gene is overexpressed in Brain - Hypothalamus (x51.6).

NURSA nuclear receptor signaling pathways regulating expression of PMCH Gene:

PMCH

SOURCE GeneReport for Unigene cluster for PMCH Gene:

Hs.707990

mRNA Expression by UniProt/SwissProt for PMCH Gene:

P20382-MCH_HUMAN
Tissue specificity: Predominantly expressed in lateral hypothalamus, also detected in pallidum, neocortex and cerebellum. Also found in thymus, brown adipose tissue, duodenum and testis (spermatogonia, early spermatocytes and Sertoli cells). No expression in peripheral blood. In brain exclusively mature MCH and NEI peptides are present. In peripheral tissues a large product, encompassing the NEI and MCH domains of the precursor, is found predominantly.

Evidence on tissue expression from TISSUES for PMCH Gene

  • Nervous system(4.5)
  • Lung(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with PMCH: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMCH Gene

Orthologs for PMCH Gene

This gene was present in the common ancestor of chordates.

Orthologs for PMCH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMCH 33 32
  • 98.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PMCH 33 32
  • 93.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PMCH 33 32
  • 92.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pmch 17 33 32
  • 88.69 (n)
rat
(Rattus norvegicus)
Mammalia Pmch 32
  • 85.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PMCH 33
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PMCH 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMCH 33 32
  • 73.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMCH 33
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pmch 32
  • 65.24 (n)
Species where no ortholog for PMCH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PMCH Gene

ENSEMBL:
Gene Tree for PMCH (if available)
TreeFam:
Gene Tree for PMCH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PMCH: view image

Paralogs for PMCH Gene

(2) SIMAP similar genes for PMCH Gene using alignment to 1 proteins:

  • MCH_HUMAN

Pseudogenes.org Pseudogenes for PMCH Gene

genes like me logo Genes that share paralogs with PMCH: view

No data available for Paralogs for PMCH Gene

Variants for PMCH Gene

Sequence variations from dbSNP and Humsavar for PMCH Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000860445 -- 102,197,511(-) T/C intron_variant
rs1001268466 -- 102,198,714(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001918834 -- 102,199,507(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1002266258 -- 102,199,144(-) A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1003915128 -- 102,198,736(-) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PMCH Gene

Variant ID Type Subtype PubMed ID
nsv455702 CNV loss 19166990
nsv560033 CNV loss 21841781

Variation tolerance for PMCH Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMCH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMCH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMCH Gene

Disorders for PMCH Gene

MalaCards: The human disease database

(2) MalaCards diseases for PMCH Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
byssinosis
  • cotton mill fever
body mass index quantitative trait locus 11
  • bmiq11
- elite association - COSMIC cancer census association via MalaCards
Search PMCH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PMCH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PMCH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMCH Gene

Publications for PMCH Gene

  1. Structure of the human melanin concentrating hormone mRNA. (PMID: 2149166) Presse F … Vale W (Molecular endocrinology (Baltimore, Md.) 1990) 2 3 4 23 56
  2. Possible association of the pro-melanin-concentrating hormone gene with a greater body mass index as a side effect of the antipsychotic olanzapine. (PMID: 17541984) Chagnon YC … Maziade M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 23 43 56
  3. The melanin-concentrating hormone gene in human: flanking region analysis, fine chromosome mapping, and tissue-specific expression. (PMID: 9191099) Viale A … Nahon JL (Brain research. Molecular brain research 1997) 3 4 23 56
  4. Isolation and characterization of the human melanin-concentrating hormone gene and a variant gene. (PMID: 8326825) Breton C … Nahon JL (Brain research. Molecular brain research 1993) 3 4 23 56
  5. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim JJ … Lee JK (Journal of human genetics 2010) 3 43 56

Products for PMCH Gene

Sources for PMCH Gene