Seroatlas · Human Serome Atlas

PCBD2

Pterin-4-alpha-carbinolamine dehydratase 2

Also known as: DCOH2, DCOHM, PHS2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H0N5
Gene: PCBD2
Ensembl: ENSG00000132570
Chromosome: 5
Canonical length: 130 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Plasma membrane
Quaternary structure: Homotetramer

OverviewNCBI Gene

Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Involved in positive regulation of DNA-templated transcription. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

130 residues, UniProt reviewed canonical sequence.

>Q9H0N5|PCBD2
     1  MAAVLGALGA TRRLLAALRG QSLGLAAMSS GTHRLTAEER NQAILDLKAA GWSELSERDA
    61  IYKEFSFHNF NQAFGFMSRV ALQAEKMNHH PEWFNVYNKV QITLTSHDCG ELTKKDVKLA
   121  KFIEKAAASV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCBD2 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): 0.4
Highest tissue expression: 46 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 46 nTPM
tongue: 40 nTPM
heart muscle: 16 nTPM
liver: 12 nTPM
parathyroid gland: 12 nTPM
choroid plexus: 10 nTPM

Single-cell type

myonuclei: 255 nCPM
choroid plexus epithelial cells: 130 nCPM
proximal tubule cells: 114 nCPM
rod photoreceptor cells: 112 nCPM
distal convoluted tubule cells: 110 nCPM
loop of henle epithelial cells: 106 nCPM

Immune cell

plasmacytoid DC: 7.7 nTPM
eosinophil: 5.4 nTPM
basophil: 5.3 nTPM
classical monocyte: 5 nTPM
non-classical monocyte: 4.6 nTPM
intermediate monocyte: 4.5 nTPM

Brain region

choroid plexus: 32 nTPM
white matter: 29 nTPM
medulla oblongata: 27 nTPM
basal ganglia: 26 nTPM
cerebral cortex: 26 nTPM
thalamus: 25 nTPM

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): 1.36
gnomAD pLI: 0.03
gnomAD missense Z: 0.18
DepMap mean gene effect: -0.11
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

Biological processes

Molecular functions

4-alpha-hydroxytetrahydrobiopterin dehydratase activity

Cellular components

mitochondrion

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PCBD2 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 PCBD2 as an antibody target. Whether an autoantibody or antibody against PCBD2 could matter depends on whether native PCBD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PCBD2 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 PCBD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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