Target intelligence / Profile preview

Chromosome 9 open reading frame 152 (C9orf152)

Target
C9orf152
Molecular classification
Other (uncharacterized protein)
01

Overview

Chromosome 9 open reading frame 152 (C9orf152) is an uncharacterized human protein comprising 239 amino acids with a molecular weight of 26.3 kDa[1][5][12]. It is predicted to localize mainly to the nucleus and lacks transmembrane domains[1]. One shorter isoform (194 amino acids) also exists. The protein includes two sumoylation sites and one serine phosphorylation site, with three short alpha-helical regions[1]. C9orf152 is expressed at low-to-moderate levels in various tissues, including bladder, intestine, mammary gland, trachea, lung, liver, prostate, uterus, and brain—particularly in the olfactory bulb[1][6][9]. Gene expression may increase under stress conditions (disease, heat stress)[1]. Evolutionarily, the gene is conserved in mammals, birds, reptiles, and amphibians[1]. Several transcription factors, notably olfactory-related, interact with its promoter region[1]. No molecular family or established classification (such as enzyme, receptor, ion channel, etc.) applies to C9orf152 due to insufficient characterization, and no drug interactions, biomarkers, or therapeutic indications have been reported[3][5][12]. The only attributed molecular role from computational annotation is "protein binding"[3]. There are no notable safety concerns or evidence for its use or evaluation in therapeutics.

Other names
C9orf152bA470J20.2
02

Biological functions

protein binding
03

Disease associations

developmental and epileptic encephalopathy 37Kleefstra syndrome 1

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