RDH14

protein-coding

retinol dehydrogenase 14, the group of Short chain dehydrogenase/reductase superfamily

Gene summary

Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in osteoblast differentiation. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_020905.4

Inheritance

ClinVar variants

P:1U:70B:2

Top phenotype

Intellectual disability

gnomAD constraint

pLI —, LoF o/e 1.06

Max pathogenic AF

—

Genomic locus

chr2:18,554,723-18,560,679

External References & Databases

Ensembl (ENSG00000240857)

Transcript & Mutation Effects

hg38 • Region Span ~6.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RDH14 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 72

Intellectual disabilityTotal: 1

Cerebellar atrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020905.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			70 clinvar	2 clinvar		72
nonsense						0
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)						0
Total	0	1	70	2	0	73

Highest pathogenic variant AF is 0.00006343752

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020905.4	RefSeq	NP_065956.1	2	MANE Select
ENST00000381249.4	Ensembl	ENSP00000370648.3	2	MANE Select
ENST00000870568.1	Ensembl	ENSP00000540627.1	2	Standard
ENST00000870568.2	Ensembl	ENSP00000540627.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signal Transduction
RA biosynthesis pathway
adenosine nucleotides degradation
purine nucleotides degradation
Signaling by Retinoic Acid

Biological Process

osteoblast differentiation
retinol metabolic process
oxidation-reduction process

Molecular Function

NADP-retinol dehydrogenase activity

Cellular Component

nucleus
lysosomal membrane
endoplasmic reticulum
endoplasmic reticulum membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381249
Coding exons: 2
Length: 5958
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 125743
p: 0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.817	183	154	1.18	0.00000801	2130
Missense (PolyPhen)		54	54.077	0.99857		717
Synonymous	-0.166	64	62.3	1.03	0.00000322	718
Loss of Function	-0.142	7	6.61	1.06	2.82e-7	108

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000088	0.000088	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity detected. {ECO:0000269|PubMed:12226107}.;

Recessive Scores

pRec: 0.156

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.508

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium