PMCH (pro-melanin concentrating hormone)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5367
Gene name Pro-melanin concentrating hormone
Gene symbol PMCH
Synonyms (NCBI Gene)
MCHppMCH
Chromosome 12
Chromosome location 12q23.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
9
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT1244245 hsa-miR-182 CLIP-seq
MIRT1244246 hsa-miR-4279 CLIP-seq
MIRT2072151 hsa-miR-4719 CLIP-seq
MIRT2072152 hsa-miR-513b CLIP-seq
MIRT2072153 hsa-miR-561 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005179 Function Hormone activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 8326825
GO:0005576 Component Extracellular region TAS
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
176795 9109 ENSG00000183395
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20382
Protein name Pro-MCH [Cleaved into: Neuropeptide-glycine-glutamic acid (NGE) (Neuropeptide G-E); Neuropeptide-glutamic acid-isoleucine (NEI) (Neuropeptide E-I); Melanin-concentrating hormone (MCH)]
Protein 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.
PDB 8WSS , 8WST , 8WWK , 8WWL , 8WWM , 8WWN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05824 Pro-MCH 82 → 165 Pro-melanin-concentrating hormone (Pro-MCH) Family
Tissue specificity 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
Sequence 
MAKMNLSSYILILTFSLFSQGILLSASKSIRNLDDDMVFNTFRLGKGFQKEDTAEKSVIA
PSLEQYKNDESSFMNEEENKVSKNTGSKHNFLNHGLPLNLAIKPYLALKGSVAFPAENGV
QNTESTQEKREIGDEENSAKFPIGRRDFDMLRCMLGRVYRPCWQV
Sequence length 165
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling 		  Peptide ligand-binding receptors
G alpha (q) signalling events
G alpha (i) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (47)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 11232026
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 11232026
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpha trait thalassemia alpha Thalassemia BEFREE 17617080
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha-Thalassemia alpha Thalassemia BEFREE 22012829, 24095765, 2420172, 24245819, 2827816, 530752, 9580456
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 22012829, 24095765, 2420172, 24245819, 2827816, 530752, 9580456
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 30579844
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 20507641
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 17640905
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 17640905, 32460303 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 31476569
★★★★★
★☆☆☆☆
Found in Text Mining only