RDH12 - retinol dehydrogenase 12 Gene

Also Known as RP53; LCA13; SDR7C2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 145226

About RDH12

Cytogenetic location: 14q24.1 Genomic coordinates (GRCh38): 14:67,701,886-67,734,451 (from NCBI)

This gene has 4 transcripts (splice variants), 102 orthologues, 25 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 21.6), gall bladder (RPKM 10.8) and 4 other tissues.

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]

RDH12 Products (1)

mRNA	Protein	Name
NM_152443.3	NP_689656.2	retinol dehydrogenase 12 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables all-trans-retinol dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	12226107	GOA
enables all-trans-retinol dehydrogenase (NADP+) activity	IDA IDA: Inferred from direct assay	12226107	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20006610	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cellular detoxification of aldehyde	IDA IDA: Inferred from direct assay	19686838	GOA
involved in retinol metabolic process	IDA IDA: Inferred from direct assay	12226107	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	12226107	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RDH12 Protein Structure

adh_short

0
100
200
300
316 a.a.

Protein Preferred Names	Protein Names
retinol dehydrogenase 12	all-trans and 9-cis retinol dehydrogenase

RDH12 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	RDH12	Q96NR8	UBC	Homo sapiens	P0CG48	Anti Tag CoIP	20006610
Intra	RDH12	Q96NR8	RBPMS	Homo sapiens	Q93062	Y2H Array	25416956
Intra	RDH12	Q96NR8	RBPMS	Homo sapiens	Q93062-3	Validated Y2H	25910212
Intra	RDH12	Q96NR8	RBPMS	Homo sapiens	Q93062-3	Y2H Array	25910212
Intra	RDH12	Q96NR8	RBPMS	Homo sapiens	Q93062-3	Y2H Bait-Prey Pool	25910212

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Retinitis Pigmentosa 44	RP44 Retinitis Pigmentosa, Type 44
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Pseudopapilledema
Leber Congenital Amaurosis 11	LCA11 Leber Congenital Amaurosis, Type 11
Cone-Rod Dystrophy 12	CORD12 Dystrophy, Cone-Rod, Type 12
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Leber Congenital Amaurosis 7	LCA7 Leber Congenital Amaurosis, Type 7
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Solar Retinopathy	Solar Retinitis
Retinitis Pigmentosa 84	RP84 Retinitis Pigmentosa, Type 84
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Retinitis Pigmentosa 35	RP35 Retinitis Pigmentosa-35 Retinitis Pigmentosa, Type 35
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Leber Congenital Amaurosis 14	LCA14 Retinitis Pigmentosa, Juvenile, Lrat-Related Retinal Dystrophy, Early-Onset Severe Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa Juvenile Lrat-Related Severe Early-Onset Retinal Dystrophy Lrat-Related Retinal Dystrophy, Early-Onset Severe, Lrat-Related Leber Congenital Amaurosis, Type 14
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Chromosome 3q13.31 Deletion Syndrome	3q13 Microdeletion Syndrome Monosomy 3q13 Chromosome 3, Monosomy 3q13 Del(3)(Q13)
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 15	LCA15 Leber Congenital Amaurosis, Type 15
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Retinal Degeneration	Degeneration Of Retina
Chorioretinal Scar	Chorioretinal Cicatrix Cicatrix Of Choroid Choroid Scar Macula Scar Macular Scarring Retinal Cicatrix Retinal Scar
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Microphthalmia, Syndromic 9	Matthew-Wood Syndrome Spear Syndrome Anophthalmia/Microphthalmia And Pulmonary Hypoplasia Microphthalmia, Isolated, With Coloboma 8 MCOPS9 Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Pdac Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect Pmd Syndromic Microphthalmia 9 Anophthalmia-Pulmonary Hypoplasia Syndrome Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect Microphthalmia Syndromic 9 Matthew Wood Syndrome Pdac Syndrome Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome Microphthalmia, Isolated, With Coloboma, 8 MCOPCB8 Isolated Colobomatous Microphthalmia 8 Microphthalmia, Syndromic, 9 Anophthalmia With Pulmonary Hypoplasia Microphthalmia Syndromic, Type 9 Anophthalmia And Pulmonary Hypoplasia
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Eye Degenerative Disease
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Night Blindness	Nyctalopia
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS11800	RDH12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	RDH12	VGNC	VGNC:52816
Mus musculus	RDH12	MGD	MGI:1925224
Rattus norvegicus	RDH12	RGD	RGD:1310462
Felis catus	RDH12	VGNC	VGNC:64556
Macaca mulatta	RDH12	VGNC	VGNC:76781
Canis familiaris	RDH12	VGNC	VGNC:52598
Others	RDH12	NCBI