Seroatlas · Human Serome Atlas

RDH12

Retinol dehydrogenase 12

Also known as: FLJ30273, LCA13, RDH12_HUMAN, RP53, SDR7C2

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

Protein identityUniProt · HPA

UniProt accession
Q96NR8
Gene
RDH12
Ensembl
ENSG00000139988
Chromosome
14
Canonical length
316 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]

Canonical amino-acid sequenceUniProt

316 residues, UniProt reviewed canonical sequence.

>Q96NR8|RDH12
     1  MLVTLGLLTS FFSFLYMVAP SIRKFFAGGV CRTNVQLPGK VVVITGANTG IGKETARELA
    61  SRGARVYIAC RDVLKGESAA SEIRVDTKNS QVLVRKLDLS DTKSIRAFAE GFLAEEKQLH
   121  ILINNAGVMM CPYSKTADGF ETHLGVNHLG HFLLTYLLLE RLKVSAPARV VNVSSVAHHI
   181  GKIPFHDLQS EKRYSRGFAY CHSKLANVLF TRELAKRLQG TGVTTYAVHP GVVRSELVRH
   241  SSLLCLLWRL FSPFVKTARE GAQTSLHCAL AEGLEPLSGK YFSDCKRTWV SPRARNNKTA
   301  ERLWNVSCEL LGIRWE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RDH12 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
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
207 nTPM

Expression across tissuesHPA

Tissue

  • retina: 207 nTPM
  • skin: 62 nTPM
  • vagina: 23 nTPM
  • esophagus: 21 nTPM
  • gallbladder: 17 nTPM
  • cervix: 14 nTPM

Single-cell type

  • rod photoreceptor cells: 358 nCPM
  • cone photoreceptor cells: 149 nCPM
  • esophageal apical cells: 128 nCPM
  • esophageal suprabasal cells: 100 nCPM
  • epididymal principal cells: 79 nCPM
  • suprabasal keratinocytes: 58 nCPM

Immune cell

  • intermediate monocyte: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • thalamus: 11 nTPM
  • midbrain: 5.3 nTPM
  • cerebral cortex: 3.5 nTPM
  • hypothalamus: 3.2 nTPM
  • pons: 3.2 nTPM
  • amygdala: 3.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RDH12.

Disease | AllUniProt

Conditions RDH12 is implicated in, by any mechanism.

Disease | GeneticClinVar

154 pathogenic / likely-pathogenic of 675 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)
1.44
gnomAD pLI
0
gnomAD missense Z
-0.14
DepMap mean gene effect
0.03
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RDH12 as an antibody target. Whether an autoantibody or antibody against RDH12 could matter depends on whether native RDH12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RDH12 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 RDH12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RDH12. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...