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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RDH14
retinol dehydrogenase 14
Chromosome 2 Β· 2p24.2
NCBI Gene: 57665Ensembl: ENSG00000240857.3HGNC: HGNC:19979UniProt: Q53RX3
41PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
steroid dehydrogenase activityprotein bindingnucleoplasmlysosomal membranetype 2 diabetes mellituspeptic ulcer diseasediverticular diseasegout
✦AI Summary

RDH14 (retinol dehydrogenase 14) is an NADP-dependent enzyme that catalyzes the oxidation and reduction of retinoids, with high activity toward 9-cis, 11-cis, and all-trans-retinol but minimal activity toward 13-cis-retinol [UniProt function]. The protein localizes to multiple cellular compartments including the nucleoplasm, endoplasmic reticulum, and cytosol [GO annotations], with nucleoplasmic localization demonstrated in HEK293 cells 1. RDH14 is expressed in brain tissue 1 and plays a role in retinoid metabolism similar to other RDH family members 2. Biallelic mutations in RDH14 have been associated with autosomal recessive intellectual disability and cerebellar atrophy in a Pakistani family 1. The disease mechanism may involve disrupted retinoic acid signaling or altered chloride ion homeostasis through RDH14's binding interaction with PACC1/TMEM206, which is impaired by pathogenic mutations 1. Clinically, elevated RDH14 expression in second-trimester amniotic fluid has been identified as a potential biomarker for predicting spontaneous preterm birth, with expression changes correlating to oxidative stress and infection during pregnancy 3. These findings suggest RDH14 involvement in both normal retinoid metabolism and pregnancy-associated pathophysiology.

Sources cited
1
Biallelic RDH14 mutations cause autosomal recessive intellectual disability and cerebellar atrophy; RDH14 localizes to nucleoplasm and binds PACC1
PMID: 34848785
2
RDH14 expression is upregulated in amniotic fluid of preterm birth cases and correlates with oxidative stress and infection
PMID: 35361790
3
RDH14 exhibits NADPH preference and retinoid substrate recognition similar to other RDH family members
PMID: 18039331
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.44Moderate
peptic ulcer diseaseOpen Targets
0.39Weak
diverticular diseaseOpen Targets
0.36Weak
goutOpen Targets
0.36Weak
androgenetic alopeciaOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.26Weak
Cerebellar atrophyOpen Targets
0.26Weak
chondromalaciaOpen Targets
0.23Weak
injuryOpen Targets
0.23Weak
exostosisOpen Targets
0.21Weak
multinodular goiterOpen Targets
0.21Weak
sign or symptomOpen Targets
0.20Weak
atrial heart septal defectOpen Targets
0.20Weak
sialolithiasisOpen Targets
0.19Weak
atrial fibrillationOpen Targets
0.15Weak
hypertensionOpen Targets
0.13Weak
head and neck malignant neoplasiaOpen Targets
0.13Weak
Inguinal herniaOpen Targets
0.11Weak
Pathogenic Variants1
NM_020905.4(RDH14):c.114dup (p.Gly39fs)Likely pathogenic
Intellectual disability;Cerebellar atrophy
β˜†β˜†β˜†β˜†2020β†’ Residue 39
View on ClinVar β†—
Related Genes
DHRS7Shared pathway50%ZNF25Shared pathway50%SDR9C7Shared pathway50%TMT1AShared pathway33%ADH1CShared pathway33%ADH6Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Liver
46%
Brain
37%
Lung
34%
Ovary
28%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
RDH14DHRS7ZNF25SDR9C7TMT1AADH1CADH6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q53RX3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.62LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.09 [0.74–1.62]
RankingsWhere RDH14 stands among ~20K protein-coding genes
  • #10,065of 20,598
    Most Researched41
  • #5,160of 5,498
    Most Pathogenic Variants1
  • #15,766of 17,882
    Most Constrained (LOEUF)1.62
Genes detectedRDH14
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Identification of a novel gene signature in second-trimester amniotic fluid for the prediction of preterm birth.
PMID: 35361790
Sci Rep Β· 2022
1.00
2
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.
PMID: 34848785
Sci Rep Β· 2021
0.67
3
Human retinol dehydrogenase 13 (RDH13) is a mitochondrial short-chain dehydrogenase/reductase with a retinaldehyde reductase activity.
PMID: 18039331
FEBS J Β· 2008
0.33