Seroatlas · Human Serome Atlas

C6orf47

Uncharacterized protein C6orf47

Also known as: CF047_HUMAN, D6S53E, G4

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

Protein identityUniProt · HPA

UniProt accession: O95873
Gene: C6orf47
Ensembl: ENSG00000204439
Chromosome: 6
Canonical length: 294 aa
Protein class: Predicted membrane proteins
Subcellular location: Cytosol

OverviewNCBI Gene

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

294 residues, UniProt reviewed canonical sequence.

>O95873|C6orf47
     1  MFLRRLGGWL PRPWGRRKPM RPDPPYPEPR RVDSSSENSG SDWDSAPETM EDVGHPKTKD
    61  SGALRVSGAA SEPSKEEPQV EQLGSKRMDS LKWDQPISST QESGRLEAGG ASPKLRWDHV
   121  DSGGTRRPGV SPEGGLSVPG PGAPLEKPGR REKLLGWLRG EPGAPSRYLG GPEECLQIST
   181  NLTLHLLELL ASALLALCSR PLRAALDTLG LRGPLGLWLH GLLSFLAALH GLHAVLSLLT
   241  AHPLHFACLF GLLQALVLAV SLREPNGDEA ATDWESEGLE REGEEQRGDP GKGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C6orf47 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.64
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

esophagus: 21 nTPM
skeletal muscle: 18 nTPM
spleen: 17 nTPM
colon: 17 nTPM
skin: 17 nTPM
small intestine: 17 nTPM

Single-cell type

bergmann glia: 8.3 nCPM
oligodendrocytes: 7.7 nCPM
microglia: 7.4 nCPM
oligodendrocyte progenitor cells: 5.4 nCPM
astrocytes: 4.4 nCPM
papillary tip epithelial cells: 4.4 nCPM

Immune cell

eosinophil: 2.8 nTPM
gdT-cell: 2.6 nTPM
naive CD4 T-cell: 2 nTPM
memory B-cell: 1.9 nTPM
total PBMC: 1.9 nTPM
neutrophil: 1.8 nTPM

Brain region

cerebellum: 3.4 nTPM
white matter: 2.8 nTPM
medulla oblongata: 2.6 nTPM
pons: 2.6 nTPM
cerebral cortex: 2.5 nTPM
thalamus: 2.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C6orf47.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 3 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spastic paraplegia 86, autosomal recessive

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): 0.98
gnomAD pLI: 0.07
gnomAD missense Z: 0.73
DepMap mean gene effect: -0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

Protein domainsUniProt · Pfam · InterPro

Protein of unknown function DUF4661
Domain of unknown function (DUF4661)

KeywordsUniProt

Phosphoprotein

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads C6orf47 as an antibody target. Whether an autoantibody or antibody against C6orf47 could matter depends on whether native C6orf47 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C6orf47 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 C6orf47 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...