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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RDH5 Gene

protein-coding GIFtS: 68
GCID: GC12P056115

retinol dehydrogenase 5 (11-cis/9-cis)

(Previous name: retinol dehydrogenase 5 (11-cis and 9-cis) )
(Previous symbol: RDH1)

Explore 23 diseases affiliated with
RDH5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Retinol Dehydrogenase 5 (11-Cis/9-Cis)¹ ²		9cRDH² ³
RDH1¹ ² ³		11-Cis Retinol Dehydrogenase²
HSD17B9¹ ²		9-Cis-Retinol Specific Dehydrogenase²
SDR9C5¹ ²		Retinol Dehydrogenase 1²
Retinol Dehydrogenase 5 (11-Cis And 9-Cis)¹ ²		Short Chain Dehydrogenase/Reductase Family 9C, Member 5²
11-Cis RDH² ³		EC 1.1.1.315³
11-Cis RoDH² ³		EC 1.1.1⁸
9-Cis Retinol Dehydrogenase² ³		EC 1.1.1.105⁸

External Ids:	HGNC: 9940¹	Entrez Gene: 5959²	Ensembl: ENSG00000135437⁷	OMIM: 601617⁵	UniProtKB: Q92781³

ORGUL members:
	NONCODE:n410516

Export aliases for RDH5 gene to outside databases

Previous GC identifers: GC12P056038 GC12P056187 GC12P055830 GC12P054400 GC12P053152

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RDH5:

This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol

dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal

chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of

night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative

splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the

neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. (provided by RefSeq, Dec

2010)

UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781

Function: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis

retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol,

but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP

Gene Wiki entry for RDH5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RDH5 gene promoter:
E2F-4 E2F-3a E2F-5 C/EBPbeta E2F-2 CREB E2F E2F-1 deltaCREB
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for RDH5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RDH5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13-q14 Ensembl cytogenetic band: 12q13.2 HGNC cytogenetic band: 12q13-q14

RDH5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RDH5 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P056115: view genomic region (about GC identifiers)

Start:	56,114,151 bp from pter	End:	56,118,526 bp from pter
Size:	4,376 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781 (See protein sequence)

Recommended Name: 11-cis retinol dehydrogenase precursor

Size: 318 amino acids; 34979 Da

Subunit: Homodimer

Subcellular location: Membrane; Peripheral membrane protein. Endoplasmic reticulum lumen

Secondary accessions: O00179 Q8TAI2

Explore the universe of human proteins at neXtProt for RDH5: NX_Q92781

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92781

3 DME Specific Peptides for RDH5 (Q92781)

GLVNNAG

TGCDSGFG

EAFSDSLRR

RDH5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001186700.1 NP_002896.2

ENSEMBL proteins:

ENSP00000449927 ENSP00000448014 ENSP00000257895 ENSP00000447128 ENSP00000447513

Reactome Protein details: Q92781
Human Recombinant Protein Products for RDH5:

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	Uscn Proteins for RDH5

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005788	endoplasmic reticulum lumen	IEA	--
GO:0016020	membrane	IEA	--

RDH5 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for RDH5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RDH5 for domains About GeneDecksing

3 InterPro domains/families:

IPR002347 Glc/ribitol_DH

IPR002198 DH_sc/Rdtase_SDR

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry Q92781

ProtoNet protein and cluster: Q92781

1 Blocks protein family: IPB002198 Short-chain dehydrogenase/reductase SDR

UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781

Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RDH1_HUMAN, Q92781

Function: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis

retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol,

but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP

Catalytic activity: 11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] + NADH

Enzyme regulation: Inhibited by 9-cis-, 13-cis- and all-trans-retinoic acids, with the most potent inhibitor being

13-cis-retinoic acid. Weakly inhibited by oleic acid

Biophysicochemical properties: pH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity;

Genatlas biochemistry entry for RDH5:

retinol dehydrogenase 5,11-cis,expressed in retinal pigment epithelium,formerly RDH1

Enzyme Numbers (IUBMB): EC 1.1.1.315¹ EC 1.1.1² EC 1.1.1.105²

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004745	retinol dehydrogenase activity	TAS	9115228
GO:0016491	oxidoreductase activity	--	--

RDH5 for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Rdh5):

vision/eye

RDH5 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for RDH5: Rdh5^tm1Wsb Rdh5^tm1Drie

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RDH5

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RDH5

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Retinol metabolism

Retinol metabolism

1.00

Retinol metabolism

0.95

the visual cycle I (vertebrates)

the visual cycle I (vertebrates)

1.00

The canonical retinoid cycle in rods (twilight vision)

0.50

Visual signal transduction- Rods

Visual signal transduction- Rods

1.00

Visual signal transduction- Cones

0.39

Retinoid metabolism and transport

Visual phototransduction

0.74

Diseases associated with visual transduction

0.73

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for RDH5

Retinol metabolism

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RDH5

Visual Cycle in Retinal Rods

1 GeneGo (Thomson Reuters) Pathway for RDH5

Retinol metabolism

4 BioSystems Pathways for RDH5

	Vitamin A and carotenoid metabolism
	Visual signal transduction- Cones
	Visual signal transduction- Rods
	the visual cycle I (vertebrates)

5 Reactome Pathways for RDH5

	Diseases associated with visual transduction
	Signal Transduction
	The canonical retinoid cycle in rods (twilight vision)
	Visual phototransduction
	Disease

1 Kegg Pathway (Kegg details for RDH5):

Retinol metabolism

UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781

Pathway: Cofactor metabolism; retinol metabolism

RDH5 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RDH5

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for RDH5 (Q92781³ ENSP00000257895⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RGR	P47804³, ENSP00000352427⁴	I2D: score=1 STRING: ENSP00000352427
RLBP1	P12271³, ENSP00000268125⁴	I2D: score=2 STRING: ENSP00000268125
ALDH1A1	ENSP00000297785⁴	STRING: ENSP00000297785
ALDH1A2	ENSP00000249750⁴	STRING: ENSP00000249750
DGAT1	ENSP00000332258⁴	STRING: ENSP00000332258

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007601	visual perception	IEA	--
GO:0042572	retinol metabolic process	IEA	--
GO:0050896	response to stimulus	IEA	--

RDH5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RDH5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RDH5

7 HMDB Compounds for RDH5 About this table

Compound	Synonyms	CAS #	PubMed Ids
11-cis-Retinaldehyde	11-cis-retinal (see all 2)	564-87-4	--
11-cis-Retinol	cis-11-Retinol (see all 2)	22737-96-8	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
Retinal	3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal (see all 19)	116-31-4	--
Vitamin A	(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol (see all 7)	68-26-8	--

2 DrugBank Compounds for RDH5 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Vitamin A	[11,12-3H]-Retinol (see all 18)	68-26-8	target	--	16860536 17435174 17608724 16837774 16566595
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17608724

3 Novoseek chemical compound relationships for RDH5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
11-cis-retinol	90.2	8	12536149 (2), 11675386 (1), 11153648 (1), 14718298 (1)
vitamin a	73.8	18	11078833 (1), 15302662 (1), 10369264 (1), 11812441 (1) (see all 15)
retinoid	61.5	3	15190067 (1), 12536149 (1)

Search CenterWatch for drugs/clinical trials and news about RDH5 / RDH1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RDH5 gene (2 alternative transcripts):

NM_001199771.1 NM_002905.3

Unigene Cluster for RDH5:

Retinol dehydrogenase 5 (11-cis/9-cis)

Hs.600940 [show with all ESTs]

Unigene Representative Sequence: NM_001199771

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000553160 ENST00000547072 ENST00000552930 ENST00000553187 ENST00000548486

ENST00000257895(uc001shk.3 uc001shl.3) ENST00000550608(uc010spt.1 uc010spu.1)

ENST00000548082 ENST00000547301 ENST00000548123 ENST00000551444

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Additional cDNA sequence:

BC028298.1 DQ426887.1 NR_037658.1 U43559.1 U89717.1

13 DOTS entries:

DT.114901 DT.114899 DT.121147377 DT.97800295 DT.97784049 DT.121147408 DT.95341250 DT.121147453

DT.92417478 DT.101967375 DT.91987881 DT.121147475 DT.91745975

24/362 AceView cDNA sequences (see all 362):

BM765280 CB109466 AI765142 BM738772 BQ013700 BQ637101 CB110693 BQ009269

AA256488 BU902579 F30053 CB111353 CB109252 CB110778 AA505578 CB109785

U43559 CB111336 BE857244 AW444876 AA046712 AA314695 NM_002905 BM708121

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for RDH5 About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3a	·	3b	^	4	^	5
SP1:							-										-
SP2:							-										-
SP3:							-		-
SP4:									-		-		-		-

ECgene alternative splicing isoforms for RDH5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RDH5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTGACTGC

About this image

RDH5 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Medulla Oblongata

Brain

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RDH5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RDH5

SOURCE GeneReport for Unigene cluster: Hs.600940

UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781

Tissue specificity: Abundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney and

testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RDH5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for RDH5 gene from 8/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RDH5¹	retinol dehydrogenase 5 (11-cis/9-cis)	68.66(n) 66.25(a)		395452 NM_204713.1 NP_990044.1
lizard (Anolis carolinensis)	Reptilia	RDH5⁶ -- (see all 5)	--	61(a) 24(a) (see all 5)	1 ↔ 1 possible ortholog (see all 5)	GL343198.1(1891627-1898064) 6(68513343-68523966)
African clawed frog (Xenopus laevis)	Amphibia	Xl.26338²	Xenopus laevis transcribed sequence with weak similarity more	76.31(n)		CF549424.1
zebrafish (Danio rerio)	Actinopterygii	rdh5¹	retinol dehydrogenase 5 (11-cis/9-cis)	57.39(n) 54.37(a)		556528 NM_001030101.1 NP_001025272.1
worm (Caenorhabditis elegans)	Secernentea	F55E10.6³	D-beta-hydroxybutyrate dehydrogenase (BDH)	35(a)		X(8380120-8381586) --
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G10050⁶ AT5G65205⁶	1-acylglycerone phosphate reductase Rossmann-fold NAD(P)-binding domain-containing pro...	23(a) 22(a)	possible ortholog possible ortholog	5(3144200-3145730) 5(26050810-26052034)
rice (Oryza sativa)	Liliopsida	-- --	oxidoreductase, short chain dehydrogenase/reductas... oxidoreductase, short chain dehydrogenase/reductas...	22(a) 21(a)	possible ortholog possible ortholog	12(27135120-27136028) 4(22652738-22655412)
E. coli (Escherichia coli)	Gamma proteobacteria	ybbO⁶	predicted oxidoreductase with NAD(P)-binding Rossm...	29(a)	possible ortholog	Chromosome(517564-518373)

ENSEMBL Gene Tree for RDH5 (if available)
TreeFam Gene Tree for RDH5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for RDH5 gene

SDR9C7² DHRS9² HSD11B2² HSD17B6² HSD17B2² BDH1² RDH8² RDH16²

DHRS7B² DHRS7² HSD17B1² KDSR² DHRS7C²

8 SIMAP similar genes for RDH5 using alignment to 4 protein entries: RDH1_HUMAN (see all proteins):

RDHL RDH16 SDR9C7 DHRS9 HSD17B6 BDH1

HSD17B2 HSD11B2

RDH5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs62638185^1,2	C	pathogenic	53154001(+)	`GGCCTC/TCTCCC`	4	S F	mis¹		0	--	--	--	--
rs104894374^1,2	C	pathogenic	53154446(+)	`GGGGCC/TGGGTG`	4	R W	mis¹		0	--	--	--	--
rs104894373^1,2	C	pathogenic	53154507(+)	`CTGTGG/TCTCCA`	4	G V	mis¹		0	--	--	--	--
rs62638191^1,2	C	pathogenic	53156627(+)	`ACTATA/G/TGGGGG`	6	R G W	mis¹		1		EU	1117
rs62638194^1,2	C	pathogenic	53157028(+)	`CCCGCC/G/TACAGC`	6	H D Y	mis¹		0	--	--	--	--
rs79290029^1,2		--	53152849(+)	`GGGGTG/CGGGGG`	2	--	us2k¹		3		CSA WA EA	239
rs114663094^1,2	C,F	--	53152996(+)	`CACTCC/TGGACT`	2	--	ut5¹		1		WA	118
rs7972217^1,2	C,H	--	53153029(+)	`TGGGAG/AGCTGG`	2	--	ut5¹		6		NS EA NA	398
rs115802358^1,2	C,F	--	53153171(+)	`ACATGT/CATTGC`	2	--	int¹		1		WA	118
rs3891035^1,2	H	--	53153381(+)	`ATATAG/AAAGGT`	2	--	int¹		4		NS EA	414

HapMap Linkage Disequilibrium report for RDH5 (56114151 - 56118526 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RDH5: --
Human Gene Mutation Database (HGMD): RDH5

Locus Specific Mutation Databases (LSDB): RDH5

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RDH5

DNA2.0 Custom Variant and Variant Library Synthesis for RDH5

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RDH5 for disorders           About GeneDecksing

OMIM gene information: 601617
OMIM disorders: 136880
UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781

Defects in RDH5 are a cause of retinitis punctata albescens (RPA) [MIM:136880]; also known as fundus

albipunctatus (FA). RPA is a rare form of stationary night blindness characterized by a delay in the regeneration of

cone and rod photopigments

20/23 diseases for RDH5 (see all 23): About MalaCards

fundus albipunctatus night blindness blindness congenital stationary night blindness

retinitis punctata albescens retinol binding protein adenomatous polyposis coli cone dystrophy

type 2 diabetes mellitus retinitis pigmentosa fundus dystrophy fatty liver disease

retinal degeneration diabetes mellitus retinitis macular dystrophy

liver disease polyposis retinal disease twinning

4 diseases from the University of Copenhagen DISEASES database for RDH5:

Fundus dystrophy Night blindness Retinitis Retinitis pigmentosa

8 Novoseek disease relationships for RDH5 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
progressive cone dystrophy	88.3	3	11448328 (1), 12906118 (1), 11053295 (1)
night blindness	86.4	9	16637847 (2), 11078833 (1), 11675386 (1), 12906118 (1) (see all 8)
night blindness, congenital stationary	84.8	2	10617778 (1)
oguchis disease	80.5	1	15584351 (1)
retinitis	68.3	1	10369264 (1)
retinitis pigmentosa	61.8	5	18363170 (2), 15007239 (2), 10369264 (1)
retinal degeneration	52.3	5	11448328 (2), 10845614 (1)
retinopathy	31.4	2	12972770 (1), 10369264 (1)

Genatlas disease: RDH5

fundus albipunctatus,both autosomal recessive and autosomal dominant,characterized by numerous small subretinal white

spots,normal retinal vessels but delayed dark adaptation

Genetic Association Database (GAD): RDH5
Human Genome Epidemiology (HuGE) Navigator: RDH5 (2 documents)

Export disorders for RDH5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RDH5 gene, integrated from 9 sources (see all 69):
(articles sorted by number of sources associating them with RDH5)

Utopia: connect your pdf to the dynamic
world of online information

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (PubMed id 11053295)^{1, 2, 4, 9} Nakamura M.... Miyake Y. (2000)
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. (PubMed id 11675386)^{1, 2, 4, 9} Liden M....Eriksson U. (2001)
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. (PubMed id 11470705)^{1, 2, 4} Driessen C.A.... Janssen J.J. (2001)
Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis- retinoic acid formation. (PubMed id 9115228)^{1, 2, 3} Mertz J.R....Blaner W.S. (1997)
Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. (PubMed id 8884265)^{1, 2, 3} Simon A....Eriksson U. (1996)
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. (PubMed id 11078852)^{1, 2, 9} Kuroiwa S.... Yoshimura N. (2000)
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. (PubMed id 10617778)^{1, 2, 9} Gonzalez-Fernandez F.... Khani S.C. (1999)
Macular dystrophy in a Japanese family with fundus albipunctatus. (PubMed id 12788147)^{1, 2, 9} Hotta K....Hida T. (2003)
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. (PubMed id 12967826)^{1, 2, 9} Yamamoto H....Negi A. (2003)
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. (PubMed id 10369264)^{1, 2, 9} Yamamoto H....Dryja T.P. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5959	HGNC: 9940	AceView: BLOC1S1andRDH5	Ensembl:ENSG00000135437	euGenes: HUgn5959
ECgene: RDH5	Kegg: 5959	H-InvDB: RDH5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RDH5	Pharmacogenomics, SNPs, Pathways
Mutations of the RDH5 gene	http://www.retina-international.org/files/sci-news/rdh5mut.htm

Intellectual Property for RDH5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RDH5 gene:
Search GeneIP for patents involving RDH5

GeneCards and IP:
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RDH5 Gene

retinol dehydrogenase 5 (11-cis/9-cis)

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RDH5 Gene

retinol dehydrogenase 5 (11-cis/9-cis)

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