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Chromosome 16 open reading frame 95 (C16orf95)

Target
C16orf95
Molecular classification
Other (uncharacterized protein; not classified in established families such as enzymes, receptors, ion channels, transcription factors, etc.)
01

Overview

Chromosome 16 open reading frame 95 (C16orf95) is a human gene that encodes an uncharacterized protein of the same name. Its molecular function, biological roles, and clinical significance remain largely unelucidated in the scientific literature, and it is not currently established as a therapeutic target. The gene is located at cytogenetic band 16q24.2, spanning approximately 14.6 kb and encoding a protein of 239 amino acids with a predicted molecular weight of 26.5 kDa. The protein has a conserved domain of unknown function and displays rapid molecular evolution across mammals. Three mRNA splice variants exist, with alternative exon usage and unique C- and N-terminal sequences. Expression profiling shows low levels in numerous tissues including bone, brain, kidney, skin, testes, and uterus. Predicted post-translational modifications include palmitoylation, phosphorylation, and O-linked glycosylation, though their functional significance is unknown and not experimentally validated. Currently, there are no known interacting proteins or drugs, and its biological or clinical role is not characterized. Disease associations reflect broader chromosomal deletions involving multiple neighboring genes rather than specific mutations or dysfunction of C16orf95 itself. The protein is annotated as "uncharacterized" in databases such as UniProt (Q9H693) and ProteomicsDB, and is not presently classified within well-defined molecular families (e.g., receptor, transporter, enzyme). It is not used as a drug target, biomarker, or in any clinical application to date.

Other names
Uncharacterized protein C16orf95C16orf95
02

Mechanism of action

None established, as no drugs interact with this target

03

Biological functions

No definitive biological functions have been characterized; possible involvement in developmental and metabolic pathways emerging from candidate studiespossible, but unconfirmed, roles in autophagosome assembly and non-motor microtubule binding
04

Disease associations

No direct disease roles attributed; however, deletions encompassing C16orf95 have been reported in association with diverse conditions such as hydronephrosis, microcephaly, distichiasis, vesicoureteral reflux, lymphedema-distichiasis syndrome, intellectual impairment, and glomuvenous malformations; in all cases, disease association is confounded by the involvement of multiple genes in the deleted chromosomal region, and the contribution of C16orf95 per se remains undefined
05

Safety considerations

None documented, as there is no direct therapeutic or diagnostic application
06

Interacting drugs

None identified; there are no known drugs that directly interact with this protein
07

Biomarkers

No validated biomarker use reported for C16orf95

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