Seroatlas · Human Serome Atlas

P3H2

Prolyl 3-hydroxylase 2

Also known as: FLJ10718, LEPREL1, MLAT4, P3H2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8IVL5
Gene
P3H2
Ensembl
ENSG00000090530
Chromosome
3
Canonical length
708 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Vesicles,Cytosol
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

708 residues, UniProt reviewed canonical sequence.

>Q8IVL5|P3H2
     1  MRERIWAPPL LLLLPLLLPP PLWGGPPDSP RRELELEPGP LQPFDLLYAS GAAAYYSGDY
    61  ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG EGPGAELPLF RSLLGRARCY
   121  RSCETQRLGG PASRHRVSED VRSDFQRRVP YNYLQRAYIK LNQLEKAVEA AHTFFVANPE
   181  HMEMQQNIEN YRATAGVEAL QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY
   241  FVEDTECRTL CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP
   301  IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE SLLDDSIDPA
   361  SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI RYGGRQDENR VPSGVNVEGA
   421  EVHGFSMGKK LSPKIDRDLR EGGPLLYENI TFVYNSEQLN GTQRVLLDNV LSEEQCRELH
   481  SVASGIMLVG DGYRGKTSPH TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR
   541  IVESYFMLNS TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY
   601  TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN PHGVKAVTKG
   661  KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL NINPKDEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against P3H2 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)
0.32
Highest tissue expression
52 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 52 nTPM
  • kidney: 48 nTPM
  • adrenal gland: 40 nTPM
  • prostate: 35 nTPM
  • ovary: 30 nTPM
  • smooth muscle: 30 nTPM

Single-cell type

  • proximal tubule cells: 1,161 nCPM
  • adrenal cortex cells: 848 nCPM
  • podocytes: 689 nCPM
  • loop of henle epithelial cells: 583 nCPM
  • pituicytes/fscs: 523 nCPM
  • alveolar cells type 2: 439 nCPM

Immune cell

  • plasmacytoid DC: 29 nTPM
  • myeloid DC: 1.2 nTPM
  • basophil: 0.2 nTPM
  • classical monocyte: 0.2 nTPM
  • total PBMC: 0.2 nTPM
  • intermediate monocyte: 0.1 nTPM

Brain region

  • white matter: 18 nTPM
  • medulla oblongata: 17 nTPM
  • spinal cord: 12 nTPM
  • hypothalamus: 11 nTPM
  • midbrain: 11 nTPM
  • pons: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about P3H2.

Disease | AllUniProt

Conditions P3H2 is implicated in, by any mechanism.

  • Myopia, high, with cataract and vitreoretinal degeneration (MCVD) MIM:614292

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 798 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)
1.16
gnomAD pLI
0
DepMap mean gene effect
0.1
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads P3H2 as an antibody target. Whether an autoantibody or antibody against P3H2 could matter depends on whether native P3H2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

P3H2 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 P3H2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/P3H2. 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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