pomc Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description proopiomelanocortin|This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the polypeptide precursor and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Nov 2014] (NCBI Entrez Gene Database, 5443)
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Genes

27 genes co-occuring with the biological term pomc in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AGRP agouti related neuropeptide
AR androgen receptor
CRH corticotropin releasing hormone
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ETV1 ets variant 1
HDAC2 histone deacetylase 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
LEP leptin
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MIR138-2 microRNA 138-2
MIR148A microRNA 148a
MIR488 microRNA 488
MME membrane metallo-endopeptidase
NCOA2 nuclear receptor coactivator 2
NPY neuropeptide Y
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A1 nuclear receptor subfamily 4, group A, member 1
POMC proopiomelanocortin
RB1 retinoblastoma 1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
TBX19 T-box 19
USF1 upstream transcription factor 1
USP8 ubiquitin specific peptidase 8