RDH12 retinol dehydrogenase 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RDH12provided by HGNC
Official Full Name: retinol dehydrogenase 12provided by HGNC
Primary source: HGNC:HGNC:19977
See related: Ensembl:ENSG00000139988 MIM:608830; AllianceGenome:HGNC:19977
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP53; LCA13; SDR7C2
Summary: 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]
Expression: Biased expression in skin (RPKM 21.6), gall bladder (RPKM 10.8) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (67701886..67734451)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (61909008..61941569)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (68168603..68201168)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods.
Title: RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods.
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Title: Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Title: Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Title: Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Title: Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.
Title: Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Title: Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
Title: ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
Title: Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Title: Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber congenital amaurosis 13 MedGen: C2675186 OMIM: 612712 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G36282 (e-PCR)
- UniSTS:33305

WI-15520 (e-PCR)
- UniSTS:63814

G36307 (e-PCR)
- UniSTS:56781

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-cis-retinol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables all-trans-retinol dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NADP+) activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular detoxification of aldehyde	IDA Inferred from Direct Assay more info	PubMed
involved_in photoreceptor cell maintenance	TAS Traceable Author Statement more info	PubMed
involved_in retinoid metabolic process	TAS Traceable Author Statement more info
involved_in retinol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor inner segment membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: retinol dehydrogenase 12

Names: all-trans and 9-cis retinol dehydrogenase; retinol dehydrogenase 12 (all-trans/9-cis/11-cis); retinol dehydrogenase 12, all-trans and 9-cis; short chain dehydrogenase/reductase family 7C member 2

NP_689656.2

EC 1.1.1.300

XP_047286921.1

EC 1.1.1.300

XP_054231405.1

EC 1.1.1.300

XP_054231406.1

EC 1.1.1.300

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008321.1 RefSeqGene

Range

5001..37566

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152443.3 → NP_689656.2 retinol dehydrogenase 12

See identical proteins and their annotated locations for NP_689656.2

Status: REVIEWED

Source sequence(s)

AK315462, BC025724

Consensus CDS

CCDS9787.1

UniProtKB/Swiss-Prot

B2RDA2, Q8TAW6, Q96NR8

UniProtKB/TrEMBL

A0A0S2Z613

Related

ENSP00000449079.1, ENST00000551171.6

Conserved Domains (1) summary

cd09807
Location:39 → 307

retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

67701886..67734451

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430965.1 → XP_047286921.1 retinol dehydrogenase 12 isoform X1

UniProtKB/Swiss-Prot

B2RDA2, Q8TAW6, Q96NR8

UniProtKB/TrEMBL

A0A0S2Z613

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

61909008..61941569

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375430.1 → XP_054231405.1 retinol dehydrogenase 12 isoform X1

UniProtKB/Swiss-Prot

B2RDA2, Q8TAW6, Q96NR8

UniProtKB/TrEMBL

A0A0S2Z613
XM_054375431.1 → XP_054231406.1 retinol dehydrogenase 12 isoform X1

UniProtKB/Swiss-Prot

B2RDA2, Q8TAW6, Q96NR8

UniProtKB/TrEMBL

A0A0S2Z613