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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	145226
Gene name Gene Name - the full gene name approved by the HGNC.	Retinol dehydrogenase 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RDH12
Synonyms (NCBI Gene) Gene synonyms aliases	LCA13, RP53, SDR7C2
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q24.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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)

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	leber congenital amaurosis, leber congenital amaurosis 13	rs878853338, rs766631462, rs1594865064, rs2038317129, rs116733939, rs387906272, rs104894470, rs2038196341, rs104894475, rs761231974, rs527236099, rs28940314, rs745871149, rs104894476, rs781331005 View all (35 more)	N/A
Macular dystrophy	macular dystrophy	rs745871149, rs140257538	N/A
retinal dystrophy	Retinal dystrophy	rs104894474, rs527236099, rs140257538, rs759408031, rs878853339, rs747257567, rs971610277, rs797044761, rs760813820, rs104894475, rs28940314, rs121434337, rs761167763, rs751589863, rs200387832 View all (14 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs387906272, rs104894475, rs368489658, rs200387832, rs1594867516, rs28940315, rs202126574, rs1239043055, rs1594866237, rs1594867597, rs386834261, rs104894474, rs1163040913, rs527236099	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs759408031, rs28940314, rs121434337	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)