Seroatlas · Human Serome Atlas

C19orf12

Protein C19orf12

Also known as: CS012_HUMAN, DKFZP762D096, MGC10922, MPAN, NBIA4, SPG43

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

Protein identityUniProt · HPA

UniProt accession
Q9NSK7
Gene
C19orf12
Ensembl
ENSG00000131943
Chromosome
19
Canonical length
141 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

141 residues, UniProt reviewed canonical sequence.

>Q9NSK7|C19orf12
     1  MTIMVEDIMK LLCSLSGERK MKAAVKHSGK GALVTGAMAF VGGLVGGPPG LAVGGAVGGL
    61  LGAWMTSGQF KPVPQILMEL PPAEQQRLFN EAAAIIRHLE WTDAVQLTAL VMGSEALQQQ
   121  LLAMLVNYVT KELRAEIQYD D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C19orf12 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
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
111 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 111 nTPM
  • tongue: 98 nTPM
  • liver: 64 nTPM
  • skeletal muscle: 59 nTPM
  • breast: 39 nTPM
  • heart muscle: 29 nTPM

Single-cell type

  • enterocytes: 160 nCPM
  • adipocytes: 133 nCPM
  • schwann cells: 95 nCPM
  • hepatocytes: 86 nCPM
  • adrenal medulla cells: 85 nCPM
  • proximal tubule cells: 82 nCPM

Immune cell

  • gdT-cell: 17 nTPM
  • memory CD8 T-cell: 13 nTPM
  • naive CD8 T-cell: 13 nTPM
  • T-reg: 12 nTPM
  • naive CD4 T-cell: 11 nTPM
  • MAIT T-cell: 10 nTPM

Brain region

  • cerebral cortex: 53 nTPM
  • hypothalamus: 47 nTPM
  • basal ganglia: 46 nTPM
  • pons: 46 nTPM
  • amygdala: 44 nTPM
  • midbrain: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C19orf12.

Disease | AllUniProt

Conditions C19orf12 is implicated in, by any mechanism.

  • Neurodegeneration with brain iron accumulation 4 (NBIA4) MIM:614298
  • Spastic paraplegia 43, autosomal recessive (SPG43) MIM:615043

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 342 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.06
gnomAD pLI
0.34
gnomAD missense Z
0.39
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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 C19orf12
  • C19orf12-like protein

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads C19orf12 as an antibody target. Whether an autoantibody or antibody against C19orf12 could matter depends on whether native C19orf12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C19orf12 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 C19orf12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/C19orf12. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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