RDH16 (retinol dehydrogenase 16) - Rat Genome Database

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Gene: RDH16 (retinol dehydrogenase 16) Homo sapiens
Analyze
Symbol: RDH16
Name: retinol dehydrogenase 16
RGD ID: 1604846
HGNC Page HGNC:29674
Description: Enables all-trans-retinol dehydrogenase (NAD+) activity; androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity; and androsterone dehydrogenase [NAD(P)+] activity. Involved in steroid metabolic process. Located in intracellular membrane-bounded organelle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hRDH-E; human epidermal retinol dehydrogenase; microsomal NAD(+)-dependent retinol dehydrogenase 4; microsomal NAD+-dependent retinol dehydrogenase 4; retinol dehydrogenase 16 (all-trans and 13-cis); retinol dehydrogenase 16 (all-trans); RODH-4; RODH4; SDR9C8; short chain dehydrogenase/reductase family 9C member 8; short chain dehydrogenase/reductase family 9C, member 8; sterol/retinol dehydrogenase
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC026120.1   LOC100420982  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381256,951,431 - 56,957,608 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1256,951,431 - 56,959,374 (-)EnsemblGRCh38hg38GRCh38
GRCh371257,345,215 - 57,351,392 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,631,482 - 55,637,685 (-)NCBINCBI36Build 36hg18NCBI36
Celera1256,999,103 - 57,005,306 (-)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1254,383,970 - 54,390,173 (-)NCBIHuRef
CHM1_11257,312,965 - 57,319,168 (-)NCBICHM1_1
T2T-CHM13v2.01256,919,300 - 56,925,477 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
androstane-3,17-diol  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
carnosic acid  (ISO)
cefaloridine  (ISO)
chenodeoxycholic acid  (EXP)
chromium(6+)  (ISO)
clofibrate  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
dibenzofurans  (ISO)
Dibutyl phosphate  (EXP)
dichloroacetic acid  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
flutamide  (ISO)
glafenine  (ISO)
glutathione  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
inulin  (ISO)
Lasiocarpine  (EXP)
methylarsonic acid  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
nefazodone  (EXP)
O-methyleugenol  (EXP)
okadaic acid  (EXP)
organophosphorus compound  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
prednisolone  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
resveratrol  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
Sunset Yellow FCF  (EXP)
tartrazine  (EXP)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
trichloroethene  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9677409   PMID:10329026   PMID:11294878   PMID:11967490   PMID:12534290   PMID:19027726   PMID:21873635   PMID:28394339   PMID:29676528  


Genomics

Comparative Map Data
RDH16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381256,951,431 - 56,957,608 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1256,951,431 - 56,959,374 (-)EnsemblGRCh38hg38GRCh38
GRCh371257,345,215 - 57,351,392 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,631,482 - 55,637,685 (-)NCBINCBI36Build 36hg18NCBI36
Celera1256,999,103 - 57,005,306 (-)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1254,383,970 - 54,390,173 (-)NCBIHuRef
CHM1_11257,312,965 - 57,319,168 (-)NCBICHM1_1
T2T-CHM13v2.01256,919,300 - 56,925,477 (-)NCBIT2T-CHM13v2.0
Rdh16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,636,959 - 127,651,715 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10127,637,021 - 127,682,434 (+)EnsemblGRCm39 Ensembl
GRCm3810127,801,090 - 127,815,846 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,801,152 - 127,846,565 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710127,238,209 - 127,252,895 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610127,204,103 - 127,218,788 (+)NCBIMGSCv36mm8
Celera10130,195,773 - 130,210,462 (+)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1075.7NCBI
Rdh16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8765,499,763 - 65,510,304 (+)NCBIGRCr8
mRatBN7.2763,616,711 - 63,625,053 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl763,597,536 - 63,624,124 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx765,505,927 - 65,514,269 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0767,708,217 - 67,716,557 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0767,509,523 - 67,517,833 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0771,058,150 - 71,072,685 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl770,980,422 - 71,072,689 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0771,151,962 - 71,152,405 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,752,257 - 67,766,995 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1767,772,988 - 67,787,725 (+)NCBI
Celera754,092,966 - 54,096,444 (-)NCBICelera
Cytogenetic Map7q22NCBI
RDH16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21037,345,736 - 37,380,367 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11237,369,988 - 37,377,137 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01231,958,385 - 31,966,319 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11232,211,691 - 32,219,624 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1232,212,746 - 32,219,624 (+)Ensemblpanpan1.1panPan2
RDH16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1101,124,322 - 1,134,138 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl101,124,320 - 1,130,453 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha101,188,751 - 1,198,258 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0101,135,298 - 1,144,806 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl101,135,296 - 1,145,453 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1101,112,204 - 1,121,711 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0101,354,063 - 1,363,571 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0101,478,831 - 1,488,339 (-)NCBIUU_Cfam_GSD_1.0
LOC101965278
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494557,669,159 - 57,676,568 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366461,194,547 - 1,200,897 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366461,195,200 - 1,200,778 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100512656
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl522,228,057 - 22,292,434 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1522,277,006 - 22,285,534 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2524,085,801 - 24,094,292 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RDH16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11152,826,447 - 52,854,731 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1152,848,488 - 52,854,167 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037193,118,277 - 193,127,224 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in RDH16
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.3(chr12:56942513-56980653)x1 copy number loss See cases [RCV000136374] Chr12:56942513..56980653 [GRCh38]
Chr12:57336297..57374437 [GRCh37]
Chr12:55622564..55660704 [NCBI36]
Chr12:12q13.3		 benign
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q13.3(chr12:57346683-57350897)x1 copy number loss See cases [RCV000447864] Chr12:57346683..57350897 [GRCh37]
Chr12:12q13.3		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q13.3(chr12:57342100-57378225)x1 copy number loss not provided [RCV000750422] Chr12:57342100..57378225 [GRCh37]
Chr12:12q13.3		 benign
NM_003708.5(RDH16):c.595del (p.Gly198_Val199insTer) deletion not provided [RCV000961181] Chr12:56952968 [GRCh38]
Chr12:57346752 [GRCh37]
Chr12:12q13.3		 benign
NM_003708.5(RDH16):c.508T>C (p.Ser170Pro) single nucleotide variant not specified [RCV004296552] Chr12:56954970 [GRCh38]
Chr12:57348754 [GRCh37]
Chr12:12q13.3		 uncertain significance
GRCh37/hg19 12q13.3(chr12:57218243-57347222)x1 copy number loss not provided [RCV000848116] Chr12:57218243..57347222 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.218C>G (p.Thr73Ser) single nucleotide variant not provided [RCV000957085] Chr12:56957245 [GRCh38]
Chr12:57351029 [GRCh37]
Chr12:12q13.3		 benign
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1		 pathogenic
NM_003708.5(RDH16):c.166G>A (p.Val56Met) single nucleotide variant not specified [RCV004106239] Chr12:56957297 [GRCh38]
Chr12:57351081 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.242C>T (p.Thr81Ile) single nucleotide variant not specified [RCV004136067] Chr12:56957221 [GRCh38]
Chr12:57351005 [GRCh37]
Chr12:12q13.3		 likely benign
NM_003708.5(RDH16):c.17C>T (p.Ala6Val) single nucleotide variant not specified [RCV004192823] Chr12:56957446 [GRCh38]
Chr12:57351230 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.667T>C (p.Phe223Leu) single nucleotide variant not specified [RCV004144709] Chr12:56952896 [GRCh38]
Chr12:57346680 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.296A>G (p.Glu99Gly) single nucleotide variant not specified [RCV004082327] Chr12:56957167 [GRCh38]
Chr12:57350951 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.55C>T (p.Arg19Trp) single nucleotide variant not specified [RCV004230551] Chr12:56957408 [GRCh38]
Chr12:57351192 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.839G>A (p.Arg280His) single nucleotide variant not specified [RCV004192528] Chr12:56952144 [GRCh38]
Chr12:57345928 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.499G>C (p.Gly167Arg) single nucleotide variant not specified [RCV004080546] Chr12:56954979 [GRCh38]
Chr12:57348763 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.832C>G (p.Arg278Gly) single nucleotide variant not specified [RCV004303266] Chr12:56952151 [GRCh38]
Chr12:57345935 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.40C>G (p.Leu14Val) single nucleotide variant not specified [RCV004258659] Chr12:56957423 [GRCh38]
Chr12:57351207 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.505G>A (p.Val169Met) single nucleotide variant not specified [RCV004250132] Chr12:56954973 [GRCh38]
Chr12:57348757 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.833G>A (p.Arg278His) single nucleotide variant not specified [RCV004259241] Chr12:56952150 [GRCh38]
Chr12:57345934 [GRCh37]
Chr12:12q13.3		 uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1 copy number loss not provided [RCV003222783] Chr12:57064059..59314016 [GRCh37]
Chr12:12q13.3-14.1		 likely pathogenic
NM_003708.5(RDH16):c.163C>T (p.Arg55Trp) single nucleotide variant not specified [RCV004248424] Chr12:56957300 [GRCh38]
Chr12:57351084 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.607A>G (p.Met203Val) single nucleotide variant not specified [RCV004258470] Chr12:56952956 [GRCh38]
Chr12:57346740 [GRCh37]
Chr12:12q13.3		 likely benign
NM_003708.5(RDH16):c.724T>C (p.Phe242Leu) single nucleotide variant not specified [RCV004337852] Chr12:56952839 [GRCh38]
Chr12:57346623 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.280G>A (p.Ala94Thr) single nucleotide variant not specified [RCV004212775] Chr12:56957183 [GRCh38]
Chr12:57350967 [GRCh37]
Chr12:12q13.3		 likely benign
NM_003708.5(RDH16):c.515T>C (p.Phe172Ser) single nucleotide variant not specified [RCV004205951] Chr12:56954963 [GRCh38]
Chr12:57348747 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.71T>C (p.Leu24Pro) single nucleotide variant not specified [RCV004350305] Chr12:56957392 [GRCh38]
Chr12:57351176 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.328G>A (p.Val110Met) single nucleotide variant not specified [RCV004443713] Chr12:56955150 [GRCh38]
Chr12:57348934 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.341G>C (p.Gly114Ala) single nucleotide variant not specified [RCV004443714] Chr12:56955137 [GRCh38]
Chr12:57348921 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.7C>T (p.Leu3Phe) single nucleotide variant not specified [RCV004443721] Chr12:56957456 [GRCh38]
Chr12:57351240 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.812C>T (p.Ala271Val) single nucleotide variant not specified [RCV004443722] Chr12:56952171 [GRCh38]
Chr12:57345955 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.422T>A (p.Val141Glu) single nucleotide variant not specified [RCV004658006] Chr12:56955056 [GRCh38]
Chr12:57348840 [GRCh37]
Chr12:12q13.3		 uncertain significance
NC_000012.11:g.(?_56711393)_(58190366_?)dup duplication Cataract 15 multiple types [RCV004578366]|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004578368]|Spastic paraplegia [RCV004578367] Chr12:56711393..58190366 [GRCh37]
Chr12:12q13.3-14.1		 uncertain significance
NM_003708.5(RDH16):c.829C>T (p.Pro277Ser) single nucleotide variant not specified [RCV004849843] Chr12:56952154 [GRCh38]
Chr12:57345938 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.473G>A (p.Arg158His) single nucleotide variant not specified [RCV004443716] Chr12:56955005 [GRCh38]
Chr12:57348789 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.488C>A (p.Ser163Tyr) single nucleotide variant not specified [RCV004443717] Chr12:56954990 [GRCh38]
Chr12:57348774 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.503G>A (p.Arg168Gln) single nucleotide variant not specified [RCV004443718] Chr12:56954975 [GRCh38]
Chr12:57348759 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.632C>A (p.Thr211Asn) single nucleotide variant not specified [RCV004443720] Chr12:56952931 [GRCh38]
Chr12:57346715 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.833G>C (p.Arg278Pro) single nucleotide variant not specified [RCV004443723] Chr12:56952150 [GRCh38]
Chr12:57345934 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.453A>C (p.Leu151Phe) single nucleotide variant not specified [RCV004443715] Chr12:56955025 [GRCh38]
Chr12:57348809 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.356C>T (p.Thr119Met) single nucleotide variant not specified [RCV004671765] Chr12:56955122 [GRCh38]
Chr12:57348906 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.518G>A (p.Gly173Asp) single nucleotide variant not specified [RCV004658007] Chr12:56954960 [GRCh38]
Chr12:57348744 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.716G>A (p.Gly239Asp) single nucleotide variant not specified [RCV004658005] Chr12:56952847 [GRCh38]
Chr12:57346631 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.56G>A (p.Arg19Gln) single nucleotide variant not specified [RCV004862952] Chr12:56957407 [GRCh38]
Chr12:57351191 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.845C>T (p.Ser282Leu) single nucleotide variant not specified [RCV004862953] Chr12:56952138 [GRCh38]
Chr12:57345922 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.26T>C (p.Val9Ala) single nucleotide variant not specified [RCV004849841] Chr12:56957437 [GRCh38]
Chr12:57351221 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_003708.5(RDH16):c.25G>A (p.Val9Met) single nucleotide variant not specified [RCV004849842] Chr12:56957438 [GRCh38]
Chr12:57351222 [GRCh37]
Chr12:12q13.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:394
Count of miRNA genes:342
Interacting mature miRNAs:362
Transcripts:ENST00000360752, ENST00000398138
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH76014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,345,255 - 57,345,475UniSTSGRCh37
Build 361255,631,522 - 55,631,742RGDNCBI36
Celera1256,999,143 - 56,999,363RGD
Cytogenetic Map12q13.3UniSTS
HuRef1254,384,010 - 54,384,230UniSTS
SHGC-35723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,345,255 - 57,345,461UniSTSGRCh37
Build 361255,631,522 - 55,631,728RGDNCBI36
Celera1256,999,143 - 56,999,349RGD
Cytogenetic Map12q13.3UniSTS
HuRef1254,384,010 - 54,384,216UniSTS
GeneMap99-G3 RH Map28620.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2428 2787 2244 4927 1723 2336 4 622 1910 464 2254 7236 6415 51 3707 843 1728 1603 170

Sequence


Ensembl Acc Id: ENST00000360752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,951,438 - 56,959,374 (-)Ensembl
Ensembl Acc Id: ENST00000398138   ⟹   ENSP00000381206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,951,431 - 56,957,608 (-)Ensembl
RefSeq Acc Id: NM_001320108   ⟹   NP_001307037
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,951,431 - 56,957,608 (-)NCBI
CHM1_11257,312,965 - 57,320,908 (-)NCBI
T2T-CHM13v2.01256,919,300 - 56,925,477 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003708   ⟹   NP_003699
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,951,431 - 56,957,608 (-)NCBI
GRCh371257,345,215 - 57,353,158 (-)NCBI
Build 361255,631,482 - 55,637,685 (-)NCBI Archive
Celera1256,999,103 - 57,005,306 (-)RGD
HuRef1254,383,970 - 54,390,173 (-)RGD
CHM1_11257,312,965 - 57,320,908 (-)NCBI
T2T-CHM13v2.01256,919,300 - 56,925,477 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003699   ⟸   NM_003708
- Peptide Label: isoform 1
- UniProtKB: Q9UNV2 (UniProtKB/Swiss-Prot),   O75452 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307037   ⟸   NM_001320108
- Peptide Label: isoform 2
- UniProtKB: Q59FX7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000381206   ⟸   ENST00000398138

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75452-F1-model_v2 AlphaFold O75452 1-317 view protein structure

Promoters
RGD ID:7224469
Promoter ID:EPDNEW_H17981
Type:initiation region
Name:RDH16_1
Description:retinol dehydrogenase 16 (all-trans)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,957,608 - 56,957,668EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29674 AgrOrtholog
COSMIC RDH16 COSMIC
Ensembl Genes ENSG00000139547 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000398138 ENTREZGENE
  ENST00000398138.5 UniProtKB/Swiss-Prot
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot
GTEx ENSG00000139547 GTEx
HGNC ID HGNC:29674 ENTREZGENE
Human Proteome Map RDH16 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot
  SDR_fam UniProtKB/Swiss-Prot
KEGG Report hsa:8608 UniProtKB/Swiss-Prot
NCBI Gene 8608 ENTREZGENE
OMIM 620043 OMIM
PANTHER RETINOL DEHYDROGENASE 16 UniProtKB/Swiss-Prot
  SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 9C UniProtKB/Swiss-Prot
Pfam adh_short UniProtKB/Swiss-Prot
PharmGKB PA142671089 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot
  SDRFAMILY UniProtKB/Swiss-Prot
PROSITE ADH_SHORT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot
UniProt O75452 ENTREZGENE
  Q59FX7 ENTREZGENE, UniProtKB/TrEMBL
  Q9UNV2 ENTREZGENE
  RDH16_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9UNV2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-13 RDH16  retinol dehydrogenase 16    retinol dehydrogenase 16 (all-trans)  Symbol and/or name change 5135510 APPROVED