Seroatlas · Human Serome Atlas

ALDH1A2

Retinal dehydrogenase 2

Also known as: AL1A2_HUMAN, RALDH2

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

Protein identityUniProt · HPA

UniProt accession
O94788
Gene
ALDH1A2
Ensembl
ENSG00000128918
Chromosome
15
Canonical length
518 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins
Quaternary structure
Homotetramer

OverviewNCBI Gene

This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

518 residues, UniProt reviewed canonical sequence.

>O94788|ALDH1A2
     1  MTSSKIEMPG EVKADPAALM ASLHLLPSPT PNLEIKYTKI FINNEWQNSE SGRVFPVYNP
    61  ATGEQVCEVQ EADKADIDKA VQAARLAFSL GSVWRRMDAS ERGRLLDKLA DLVERDRAVL
   121  ATMESLNGGK PFLQAFYVDL QGVIKTFRYY AGWADKIHGM TIPVDGDYFT FTRHEPIGVC
   181  GQIIPWNFPL LMFAWKIAPA LCCGNTVVIK PAEQTPLSAL YMGALIKEAG FPPGVINILP
   241  GYGPTAGAAI ASHIGIDKIA FTGSTEVGKL IQEAAGRSNL KRVTLELGGK SPNIIFADAD
   301  LDYAVEQAHQ GVFFNQGQCC TAGSRIFVEE SIYEEFVRRS VERAKRRVVG SPFDPTTEQG
   361  PQIDKKQYNK ILELIQSGVA EGAKLECGGK GLGRKGFFIE PTVFSNVTDD MRIAKEEIFG
   421  PVQEILRFKT MDEVIERANN SDFGLVAAVF TNDINKALTV SSAMQAGTVW INCYNALNAQ
   481  SPFGGFKMSG NGREMGEFGL REYSEVKTVT VKIPQKNS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALDH1A2 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)
0.22
Highest tissue expression
77 nTPM

Expression across tissuesHPA

Tissue

  • endometrium: 77 nTPM
  • fallopian tube: 70 nTPM
  • testis: 54 nTPM
  • seminal vesicle: 50 nTPM
  • cervix: 49 nTPM
  • smooth muscle: 30 nTPM

Single-cell type

  • neutrophils: 1,959 nCPM
  • epicardial cells: 1,001 nCPM
  • pituitary stem cells: 842 nCPM
  • endometrial stromal cells: 494 nCPM
  • hepatocytes: 403 nCPM
  • decidual stromal cells: 394 nCPM

Immune cell

  • neutrophil: 33 nTPM
  • basophil: 2.1 nTPM
  • classical monocyte: 0.5 nTPM
  • non-classical monocyte: 0.3 nTPM
  • intermediate monocyte: 0.2 nTPM
  • eosinophil: 0 nTPM

Brain region

  • cerebral cortex: 27 nTPM
  • hippocampal formation: 17 nTPM
  • choroid plexus: 7 nTPM
  • thalamus: 5.1 nTPM
  • cerebellum: 4.2 nTPM
  • basal ganglia: 3.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALDH1A2.

Disease | AllUniProt

Conditions ALDH1A2 is implicated in, by any mechanism.

  • Diaphragmatic hernia 4, with cardiovascular defects (DIH4) MIM:620025

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 90 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Diaphragmatic hernia 4, with cardiovascular defects

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)
0.45
gnomAD pLI
0.36
gnomAD missense Z
1.44
DepMap mean gene effect
-0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 ALDH1A2 as an antibody target. Whether an autoantibody or antibody against ALDH1A2 could matter depends on whether native ALDH1A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ALDH1A2 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 ALDH1A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ALDH1A2. 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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