Seroatlas · Human Serome Atlas

C2orf69

Mitochondrial protein C2orf69

Also known as: CB069_HUMAN, FLJ38973

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N8R5
Gene: C2orf69
Ensembl: ENSG00000178074
Chromosome: 2
Canonical length: 385 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Secretome location: Intracellular and membrane

OverviewNCBI Gene

Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

385 residues, UniProt reviewed canonical sequence.

>Q8N8R5|C2orf69
     1  MWGFRLLRSP PLLLLLPQLG IGNASSCSQA RTMNPGGSGG ARCSLSAEVR RRQCLQLSTV
    61  PGADPQRSNE LLLLAAAGEG LERQDLPGDP AKEEPQPPPQ HHVLYFPGDV QNYHEIMTRH
   121  PENYQWENWS LENVATILAH RFPNSYIWVI KCSRMHLHKF SCYDNFVKSN MFGAPEHNTD
   181  FGAFKHLYML LVNAFNLSQN SLSKKSLNVW NKDSIASNCR SSPSHTTNGC QGEKVRTCEK
   241  SDESAMSFYP PSLNDASFTL IGFSKGCVVL NQLLFELKEA KKDKNIDAFI KSIRTMYWLD
   301  GGHSGGSNTW VTYPEVLKEF AQTGIIVHTH VTPYQVRDPM RSWIGKEHKK FVQILGDLGM
   361  QVTSQIHFTK EAPSIENHFR VHEVF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C2orf69 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 21 nTPM
testis: 14 nTPM
adrenal gland: 13 nTPM
cerebral cortex: 13 nTPM
retina: 9.6 nTPM
liver: 9.3 nTPM

Single-cell type

late primary spermatocytes: 140 nCPM
late spermatids: 115 nCPM
cardiomyocytes: 111 nCPM
early spermatids: 109 nCPM
early primary spermatocytes: 93 nCPM
müller glia: 62 nCPM

Immune cell

eosinophil: 7.2 nTPM
basophil: 5.4 nTPM
MAIT T-cell: 5.2 nTPM
naive CD8 T-cell: 4.5 nTPM
naive CD4 T-cell: 4.2 nTPM
T-reg: 4.1 nTPM

Brain region

white matter: 20 nTPM
cerebral cortex: 19 nTPM
hypothalamus: 18 nTPM
basal ganglia: 17 nTPM
spinal cord: 17 nTPM
midbrain: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C2orf69.

Disease | AllUniProt

Conditions C2orf69 is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 53 (COXPD53) MIM:619423

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 39 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Combined oxidative phosphorylation deficiency 53

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.81
gnomAD pLI: 0.02
gnomAD missense Z: 1.15
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

oxidative phosphorylation

Cellular components

Protein domainsUniProt · Pfam · InterPro

Mitochondrial protein C2orf69
C2orf69

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads C2orf69 as an antibody target. Whether an autoantibody or antibody against C2orf69 could matter depends on whether native C2orf69 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C2orf69 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label C2orf69 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...