Seroatlas · Human Serome Atlas

DNAJC12

DnaJ homolog subfamily C member 12

Also known as: DJC12_HUMAN, JDP1

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

Protein identityUniProt · HPA

UniProt accession: Q9UKB3
Gene: DNAJC12
Ensembl: ENSG00000108176
Chromosome: 10
Canonical length: 198 aa
Protein class: Disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

198 residues, UniProt reviewed canonical sequence.

>Q9UKB3|DNAJC12
     1  MDAILNYRSE DTEDYYTLLG CDELSSVEQI LAEFKVRALE CHPDKHPENP KAVETFQKLQ
    61  KAKEILTNEE SRARYDHWRR SQMSMPFQQW EALNDSVKTS MHWVVRGKKD LMLEESDKTH
   121  TTKMENEECN EQRERKKEEL ASTAEKTEQK EPKPLEKSVS PQNSDSSGFA DVNGWHLRFR
   181  WSKDAPSELL RKFRNYEI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAJC12 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): 0.55
Highest tissue expression: 82 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 82 nTPM
adrenal gland: 67 nTPM
liver: 63 nTPM
hypothalamus: 44 nTPM
pituitary gland: 39 nTPM
pancreas: 35 nTPM

Single-cell type

pancreatic islet cells: 390 nCPM
breast lactating cells: 306 nCPM
neuroendocrine cells: 161 nCPM
breast hormone-responsive cells: 126 nCPM
pancreatic acinar cells: 109 nCPM
hepatocytes: 95 nCPM

Immune cell

plasmacytoid DC: 7.7 nTPM
myeloid DC: 1.2 nTPM
naive CD8 T-cell: 0.3 nTPM
memory B-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM

Brain region

midbrain: 81 nTPM
cerebellum: 52 nTPM
hypothalamus: 38 nTPM
pons: 36 nTPM
cerebral cortex: 31 nTPM
basal ganglia: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAJC12.

Disease | AllUniProt

Conditions DNAJC12 is implicated in, by any mechanism.

Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) MIM:617384

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hyperphenylalaninemia due to DNAJC12 deficiency
DNAJC12-related disorder
Inborn genetic diseases

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): 1.34
gnomAD pLI: 0
gnomAD missense Z: 0.06
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

cytoplasm

Protein domainsUniProt · Pfam · InterPro

DnaJ domain
Chaperone J-domain superfamily
DnaJ domain
J domain-containing protein 1-like

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNAJC12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNAJC12 as an antibody target. Whether an autoantibody or antibody against DNAJC12 could matter depends on whether native DNAJC12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAJC12 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 DNAJC12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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