Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	145226
Gene name	Retinol dehydrogenase 12
Gene symbol	RDH12
Synonyms (NCBI Gene)	LCA13RP53SDR7C2
Chromosome	14
Chromosome location	14q24.1
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 dehydrogena

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940314	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28940315	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894470	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894471	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894472	T>C	Pathogenic	Missense variant, coding sequence variant
rs104894473	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104894474	G>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs104894475	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs116733939	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121434337	C>T	Pathogenic	Missense variant, coding sequence variant
rs202126574	C>T	Pathogenic	Coding sequence variant, missense variant
rs368489658	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906272	G>A	Pathogenic	Splice donor variant
rs745871149	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs746513362	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs749038454	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs753959716	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs759408031	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs766631462	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs778481181	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs794729650	CATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797044761	->C	Pathogenic	Coding sequence variant, frameshift variant
rs878853341	GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs971610277	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1349849938	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1566847499	A>C	Pathogenic	Missense variant, coding sequence variant
rs1594865036	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865064	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865068	AAGGAGACGGCCAGAGAGCTCGCTAGCCGAGGTAAGTGTTTCCCCTTTAGTCTCCAAAGGGCCATGCCTCCCACCCTTCTTCCCACTGGGGCCTCTGTCCATATTGCTTTGTGTTTCCTCCTAGGCTTGGGGGCTCTGACTAGAAATTCAAGGAACCTGGGATTCAAGTCCAACTGTGACACCAACTTACACTGTGGCCTCCAATAAAC>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1594865341	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865434	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865719	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594866237	A>C	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IDA	12226107
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IEA
GO:0005515	Function	Protein binding	IPI	20006610, 25416956, 25910212, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	12226107
GO:0007601	Process	Visual perception	TAS	12226107
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042572	Process	Retinol metabolic process	IDA	12226107
GO:0042572	Process	Retinol metabolic process	IEA
GO:0045494	Process	Photoreceptor cell maintenance	TAS	12226107
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	IDA	12226107
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	IEA
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	TAS
GO:0060342	Component	Photoreceptor inner segment membrane	TAS
GO:0102354	Function	11-cis-retinol dehydrogenase (NADP+) activity	IEA
GO:0110095	Process	Cellular detoxification of aldehyde	IDA	19686838
GO:0110095	Process	Cellular detoxification of aldehyde	IEA

MIM	HGNC	e!Ensembl
608830	19977	ENSG00000139988

Q96NR8

Protein name

Retinol dehydrogenase 12 (EC 1.1.1.300) (All-trans and 9-cis retinol dehydrogenase) (Short chain dehydrogenase/reductase family 7C member 2)

Protein function

Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol (PubMed:12226107, PubMed:15865448). Also exhibits activity, a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	40 → 243	short chain dehydrogenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach. {ECO:0000269|PubMed:15865448}.

Sequence

MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELA
SRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLH
ILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHI
GKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTA
ERLWNVSCELLGIRWE

Sequence length

316

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolic pathways Biosynthesis of cofactors		Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)

890

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Pathogenic; Likely pathogenic	rs386834261, rs1594867516	RCV000504734 RCV001814294
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs28940314, rs121434337, rs759408031	RCV006270499 RCV002267718 RCV003324481 RCV002267742
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs778571042, rs2140142183, rs527800020, rs368489658, rs2140145502, rs144148976, rs2140138146, rs1594867551, rs386834261, rs28940314, rs104894471, rs28940315, rs121434337, rs202126574, rs2038232781 View all (17 more)	RCV005057345 RCV001831344 RCV001836387 RCV001831398 RCV003155408 RCV001733411 RCV003331233 RCV003485755 RCV001277207 RCV001277201 RCV001254729 RCV001277202 RCV001826405 RCV003155010 RCV005608857 RCV001826911 RCV001833238 RCV001828100 RCV005407164 RCV004701069 RCV003988140 RCV005610690 RCV001835041 RCV000754982 RCV001830679 RCV001277204 RCV001003153 RCV001420746 RCV001827217 RCV001277203 RCV005408657 RCV001277209 RCV003324554 RCV001833781 RCV005236749
Leber congenital amaurosis 13	Likely pathogenic; Pathogenic	rs28940314, rs778571042, rs2140142183, rs527800020, rs368489658, rs755621140, rs2140145266, rs116733939, rs2140145502, rs2140151036, rs755909719, rs2140145599, rs2140145142, rs2038231425, rs1167979935 View all (90 more)	RCV001340739 RCV001376377 RCV001377548 RCV001378468 RCV001387782 RCV001384303 RCV001385024 RCV001390024 RCV001388911 RCV001383344 RCV001385535 RCV003389498 RCV001783675 RCV002038789 RCV001941671 RCV001964550 RCV002017204 RCV002023609 RCV002023658 RCV001993303 RCV002046829 RCV001975030 RCV001050483 RCV000002127 RCV000002128 RCV000002129 RCV000002130 RCV000002131 RCV000002132 RCV000002133 RCV000002134 RCV000002135 RCV000002136 RCV000002137 RCV000002138 RCV000002139 RCV000002140 RCV001223788 RCV003058443 RCV001067765 RCV002635366 RCV000185560 RCV002659177 RCV002735556 RCV002790434 RCV002853359 RCV003030661 RCV003047102 RCV003046902 RCV003056244 RCV001377427 RCV001206727 RCV001053170 RCV003463491 RCV003471818 RCV003463492 RCV003471820 RCV003463494 RCV003463495 RCV003471821 RCV003471822 RCV003463497 RCV003463498 RCV003463499 RCV003498148 RCV003499983 RCV003497631 RCV003498658 RCV003604294 RCV003605005 RCV003602620 RCV003603835 RCV003839591 RCV004574717 RCV004574718 RCV004574719 RCV001058196 RCV000645726 RCV000993755 RCV000761341 RCV001377219 RCV000797267 RCV000803399 RCV000811812 RCV000820774 RCV000989237 RCV000989238 RCV000989239 RCV000993753 RCV001255717 RCV005012424 RCV003769395 RCV001029918 RCV001057696 RCV001036749 RCV001043608 RCV001038076 RCV001038512 RCV001041857 RCV001043928 RCV001225544 RCV001212314 RCV001255716 RCV001387133 RCV001383004 RCV001862488 RCV002557895 RCV001198281 RCV001204102 RCV001202459 RCV001205458 RCV001246151 RCV001255720 RCV001255721 RCV001255714 RCV001255719 RCV001255722 RCV001255723 RCV001255724 RCV001255715 RCV001255718 RCV001387781
Lung cancer	Pathogenic	rs912107188	RCV005909232
Macular dystrophy	Likely pathogenic; Pathogenic	rs2140145599, rs745871149, rs140257538	RCV001591831 RCV000993749 RCV000993751
Ovarian serous cystadenocarcinoma	Pathogenic	rs781331005	RCV005912459
RDH12-related disorder	Pathogenic; Likely pathogenic	rs386834261, rs202126574, rs2503871870, rs745871149	RCV000779141 RCV004734494 RCV004534300 RCV004735926
Retinal dystrophy	Pathogenic; Likely pathogenic	rs527236099, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs797044761, rs794729650, rs878853341, rs878853338, rs878853339 View all (15 more)	RCV001073449 RCV001073384 RCV000504920 RCV004814796 RCV001075533 RCV004814797 RCV004814798 RCV001075855 RCV004814799 RCV001073666 RCV001073904 RCV001074407 RCV000225678 RCV000225656 RCV000225474 RCV003889652 RCV004817774 RCV004817913 RCV001073859 RCV004818012 RCV003889988 RCV001074674 RCV003890160 RCV001074758 RCV001075351 RCV001075659 RCV001073785 RCV001075033 RCV001073230 RCV001073667
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs527236099, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs1239043055, rs368489658, rs1594866237, rs140257538, rs200387832, rs1594867516, rs1594867597, rs1163040913	RCV000132692 RCV000678608 RCV000787672 RCV000787674 RCV000993758 RCV001003155 RCV000132691 RCV001003156 RCV000787671 RCV000787673 RCV000787675 RCV000993757 RCV001003157 RCV001003158 RCV001199532 RCV005418990 RCV005419057
Retinitis pigmentosa 53	Pathogenic; Likely pathogenic	rs527236099, rs202126574	RCV000002141 RCV000002142
See cases	Likely pathogenic; Pathogenic	rs121434337	RCV004584306
Stargardt disease	Likely pathogenic	rs2140145566	RCV001591834

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant retinitis pigmentosa	Uncertain significance	rs374675592	RCV005863023
Familial cancer of breast	Uncertain significance	rs757501261	RCV005920738
Macular dystrophy with or without cone dysfunction	Conflicting classifications of pathogenicity	rs116802390	RCV005235499
Optic atrophy	Uncertain significance	rs745471670	RCV004818104
Retinitis Pigmentosa, Recessive	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs150812168, rs886050640, rs17852293, rs79869437, rs886050642, rs552516182, rs77686476, rs769317754, rs886050644, rs73276636, rs886050639, rs886050641, rs777424197, rs886050643, rs76635633 View all (7 more)	RCV001109347 RCV000389412 RCV000292002 RCV000346851 RCV000298273 RCV000381378 RCV000408169 RCV000302468 RCV000299235 RCV000294464 RCV000330710 RCV000345413 RCV000408171 RCV000262765 RCV000295115 RCV000353116 RCV000367990 RCV001114991 RCV001109343 RCV001114988 RCV001111668 RCV001112133

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amaurosis congenita of Leber type 1	Associate	37714431
Atrophy	Associate	15322982, 28513254, 35994252
Blindness	Associate	37714431
Carcinoma Squamous Cell	Inhibit	25586346
Cone Rod Dystrophies	Associate	15322982, 17512964, 32014858, 34031043, 35994252, 40446715
Genetic Diseases X Linked	Associate	32423767
Hypertensive Retinopathy	Associate	28471114, 35994252
Leber Congenital Amaurosis	Associate	15322982, 17512964, 18936139, 19753312, 19840725, 21602930, 22065924, 26147992, 28471114, 28513254, 28540421, 30979730, 34216980, 39728598, 40296824, 40446715 View all (1 more)
Leber Congenital Amaurosis 3	Associate	15865448
Lymphatic Metastasis	Associate	32934959
Macular Degeneration	Associate	32014858, 36690427, 37322672
Peripapillary Atrophy Beta Type	Associate	28513254
Retinal Degeneration	Associate	20006610, 21232531, 30979730
Retinal Diseases	Associate	32014858, 32423767, 38184646
Retinal Dystrophies	Associate	22065924, 24625443, 25133751, 30979730, 32014858, 35994252, 37714431, 40446715
Retinal Dystrophy Early Onset Severe	Associate	30979730
Retinitis	Associate	22065924
Retinitis Pigmentosa	Associate	17512964, 21151602, 32014858, 34031043, 34216980, 37264419, 37322672, 40296824
Squamous Cell Carcinoma of Head and Neck	Associate	32934959
Triple Negative Breast Neoplasms	Associate	40217479
Vision Disorders	Associate	32014858, 37714431

RDH12 (retinol dehydrogenase 12)