Seroatlas · Human Serome Atlas

C12orf57

Protein C10

Also known as: C10, C10_HUMAN, GRCC10

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

Protein identityUniProt · HPA

UniProt accession: Q99622
Gene: C12orf57
Ensembl: ENSG00000111678
Chromosome: 12
Canonical length: 126 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nuclear speckles

OverviewNCBI Gene

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

126 residues, UniProt reviewed canonical sequence.

>Q99622|C12orf57
     1  MASASTQPAA LSAEQAKVVL AEVIQAFSAP ENAVRMDEAR DNACNDMGKM LQFVLPVATQ
    61  IQQEVIKAYG FSCDGEGVLK FARLVKSYEA QDPEIASLSG KLKALFLPPM TLPPHGPAAG
   121  GSVAAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C12orf57 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): 0.41
Highest tissue expression: 554 nTPM

Expression across tissuesHPA

Tissue

ovary: 554 nTPM
blood vessel: 413 nTPM
cervix: 388 nTPM
pituitary gland: 323 nTPM
heart muscle: 315 nTPM
fallopian tube: 313 nTPM

Single-cell type

ovarian stromal cells: 528 nCPM
goblet cells: 515 nCPM
breast myoepithelial cells: 500 nCPM
decidual stromal cells: 448 nCPM
late spermatids: 439 nCPM
megakaryocytes: 420 nCPM

Immune cell

naive CD4 T-cell: 249 nTPM
plasmacytoid DC: 226 nTPM
memory CD4 T-cell: 209 nTPM
T-reg: 205 nTPM
naive CD8 T-cell: 204 nTPM
memory CD8 T-cell: 200 nTPM

Brain region

thalamus: 169 nTPM
cerebral cortex: 147 nTPM
hypothalamus: 139 nTPM
choroid plexus: 137 nTPM
midbrain: 129 nTPM
white matter: 128 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C12orf57.

Disease | AllUniProt

Conditions C12orf57 is implicated in, by any mechanism.

Temtamy syndrome (TEMTYS) MIM:218340

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 261 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Temtamy syndrome
Global developmental delay
Abnormal corpus callosum morphology
Seizure
Microphthalmia, isolated, with coloboma

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): 1.86
gnomAD pLI: 0
gnomAD missense Z: -0.9
DepMap mean gene effect: -0.09
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Protein C10
Protein C10

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads C12orf57 as an antibody target. Whether an autoantibody or antibody against C12orf57 could matter depends on whether native C12orf57 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C12orf57 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 C12orf57 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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