Seroatlas · Human Serome Atlas

PYCR2

Pyrroline-5-carboxylate reductase 2

Also known as: P5CR2, P5CR2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96C36
Gene
PYCR2
Ensembl
ENSG00000143811
Chromosome
1
Canonical length
320 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria
Quaternary structure
Homodecamer

OverviewNCBI Gene

This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

320 residues, UniProt reviewed canonical sequence.

>Q96C36|PYCR2
     1  MSVGFIGAGQ LAYALARGFT AAGILSAHKI IASSPEMNLP TVSALRKMGV NLTRSNKETV
    61  KHSDVLFLAV KPHIIPFILD EIGADVQARH IVVSCAAGVT ISSVEKKLMA FQPAPKVIRC
   121  MTNTPVVVQE GATVYATGTH ALVEDGQLLE QLMSSVGFCT EVEEDLIDAV TGLSGSGPAY
   181  AFMALDALAD GGVKMGLPRR LAIQLGAQAL LGAAKMLLDS EQHPCQLKDN VCSPGGATIH
   241  ALHFLESGGF RSLLINAVEA SCIRTRELQS MADQEKISPA ALKKTLLDRV KLESPTVSTL
   301  TPSSPGKLLT RSLALGGKKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PYCR2 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)
0.34
Highest tissue expression
75 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 75 nTPM
  • midbrain: 69 nTPM
  • adrenal gland: 69 nTPM
  • choroid plexus: 68 nTPM
  • skeletal muscle: 65 nTPM
  • heart muscle: 60 nTPM

Single-cell type

  • oligodendrocytes: 31 nCPM
  • platelets: 25 nCPM
  • bergmann glia: 24 nCPM
  • ependymal cells: 21 nCPM
  • microglia: 14 nCPM
  • other brain neurons: 13 nCPM

Immune cell

  • naive CD4 T-cell: 76 nTPM
  • NK-cell: 69 nTPM
  • naive CD8 T-cell: 64 nTPM
  • plasmacytoid DC: 61 nTPM
  • MAIT T-cell: 49 nTPM
  • gdT-cell: 47 nTPM

Brain region

  • white matter: 98 nTPM
  • medulla oblongata: 94 nTPM
  • spinal cord: 93 nTPM
  • cerebellum: 91 nTPM
  • midbrain: 78 nTPM
  • basal ganglia: 78 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PYCR2.

Disease | AllUniProt

Conditions PYCR2 is implicated in, by any mechanism.

  • Leukodystrophy, hypomyelinating, 10 (HLD10) MIM:616420

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 178 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)
1.34
gnomAD pLI
0
gnomAD missense Z
0.95
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PYCR2 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 PYCR2 as an antibody target. Whether an autoantibody or antibody against PYCR2 could matter depends on whether native PYCR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PYCR2 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 PYCR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PYCR2. 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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