HSD17B6 (hydroxysteroid 17-beta dehydrogenase 6) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: HSD17B6 (hydroxysteroid 17-beta dehydrogenase 6) Homo sapiens
Analyze
Symbol: HSD17B6
Name: hydroxysteroid 17-beta dehydrogenase 6
RGD ID: 1602229
HGNC Page HGNC:23316
Description: Enables NAD-retinol dehydrogenase activity and steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Involved in brexanolone catabolic process. Predicted to be located in early endosome membrane and endoplasmic reticulum. Predicted to be active in intracellular membrane-bounded organelle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 17-beta-HSD 6; 17-beta-HSD6; 17-beta-hydroxysteroid dehydrogenase type 6; 17-beta-hydroxysteroid dehydrogenase type 6 variant 1; 17-beta-hydroxysteroid dehydrogenase type 6 variant 2; 17-beta-hydroxysteroid dehydrogenase type 6 variant 3; 3(alpha->beta)-hydroxysteroid epimerase; 3(alpha->beta)-hydroxysteroid epimerasel; 3-alpha->beta-HSE; 3-alpha->beta-hydroxysteroid epimerase; 3-hydroxysteroid epimerase; HSE; hydroxysteroid (17-beta) dehydrogenase 6; hydroxysteroid (17-beta) dehydrogenase 6 homolog; NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase; oxidative 3-alpha hydroxysteroid dehydrogenase; oxidative 3-alpha-hydroxysteroid-dehydrogenase; oxidoreductase; retinol dehydrogenase; RODH; SDR9C6; short chain dehydrogenase/reductase family 9C member 6; short chain dehydrogenase/reductase family 9C, member 6
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381256,763,324 - 56,787,790 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1256,752,161 - 56,787,790 (+)EnsemblGRCh38hg38GRCh38
GRCh371257,157,108 - 57,181,574 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,443,375 - 55,467,841 (+)NCBINCBI36Build 36hg18NCBI36
Celera1256,811,056 - 56,835,545 (+)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1254,196,177 - 54,220,440 (+)NCBIHuRef
CHM1_11257,124,709 - 57,149,178 (+)NCBICHM1_1
T2T-CHM13v2.01256,720,359 - 56,755,674 (+)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)
1,2-dichloroethane  (ISO)
1-nitropropane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitropropane  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4-acetylaminofluorene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
carnosic acid  (ISO)
cetrorelix  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dorsomorphin  (EXP)
endosulfan  (EXP,ISO)
Enterolactone  (EXP)
entinostat  (EXP)
epoxiconazole  (EXP,ISO)
ethanol  (ISO)
fipronil  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
furan  (ISO)
indometacin  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
mifepristone  (EXP)
N,N-diethyl-m-toluamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
naphthalene  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
paracetamol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
Propiverine  (ISO)
quercetin  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
tauroursodeoxycholic acid  (ISO)
testosterone  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
troglitazone  (EXP,ISO)
tunicamycin  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9188497   PMID:10896656   PMID:11165032   PMID:11306067   PMID:11360992   PMID:11513953   PMID:12477932   PMID:16344560   PMID:17070195   PMID:17207965   PMID:17289849   PMID:19027726  
PMID:19837928   PMID:20200332   PMID:20526338   PMID:21039282   PMID:21873635   PMID:22114194   PMID:22267201   PMID:24244276   PMID:25422294   PMID:26186194   PMID:28514442   PMID:30097533  
PMID:32732174   PMID:33961781   PMID:37330135  


Genomics

Comparative Map Data
HSD17B6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381256,763,324 - 56,787,790 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1256,752,161 - 56,787,790 (+)EnsemblGRCh38hg38GRCh38
GRCh371257,157,108 - 57,181,574 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,443,375 - 55,467,841 (+)NCBINCBI36Build 36hg18NCBI36
Celera1256,811,056 - 56,835,545 (+)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1254,196,177 - 54,220,440 (+)NCBIHuRef
CHM1_11257,124,709 - 57,149,178 (+)NCBICHM1_1
T2T-CHM13v2.01256,720,359 - 56,755,674 (+)NCBIT2T-CHM13v2.0
Hsd17b6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,826,800 - 127,843,517 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10127,826,805 - 127,843,480 (-)EnsemblGRCm39 Ensembl
GRCm3810127,990,931 - 128,007,648 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,990,936 - 128,007,611 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710127,427,992 - 127,444,564 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610127,393,885 - 127,410,457 (-)NCBIMGSCv36mm8
Celera10130,386,654 - 130,402,718 (-)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1076.39NCBI
Hsd17b6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87831,407 - 850,950 (-)NCBIGRCr8
mRatBN7.27422,466 - 442,008 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7422,480 - 442,425 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx73,181,210 - 3,200,875 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.075,057,225 - 5,076,887 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.075,355,342 - 5,375,051 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.072,412,370 - 2,431,249 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl72,412,363 - 2,431,197 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl13110,633,786 - 110,642,754 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.072,390,308 - 2,409,187 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.471,118,183 - 1,137,670 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.171,270,995 - 1,274,641 (-)NCBI
Celera7310,880 - 321,035 (-)NCBICelera
Cytogenetic Map7q11NCBI
HSD17B6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21037,532,580 - 37,570,667 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11237,529,349 - 37,567,436 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01232,117,696 - 32,155,740 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11232,371,489 - 32,409,079 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1232,371,489 - 32,408,860 (-)Ensemblpanpan1.1panPan2
HSD17B6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.110948,982 - 1,016,651 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl101,000,199 - 1,016,420 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha101,013,547 - 1,081,648 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.010959,903 - 1,028,028 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl101,008,915 - 1,027,809 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.110936,956 - 1,005,109 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0101,178,872 - 1,246,960 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0101,303,521 - 1,371,687 (+)NCBIUU_Cfam_GSD_1.0
HSD17B6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl522,092,578 - 22,273,382 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1522,089,496 - 22,114,319 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2523,775,876 - 23,800,805 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HSD17B6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11152,710,903 - 52,736,645 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1152,710,758 - 52,736,629 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037193,238,228 - 193,265,612 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hsd17b6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480211,115,928 - 11,162,174 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480211,125,544 - 11,162,914 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSD17B6
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003725.3(HSD17B6):c.306G>A (p.Gly102=) single nucleotide variant Malignant melanoma [RCV000070120] Chr12:56774158 [GRCh38]
Chr12:57167942 [GRCh37]
Chr12:55454209 [NCBI36]
Chr12:12q13.3
not provided
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 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 12q13.3(chr12:57168428-57314014)x1 copy number loss not provided [RCV000683397] Chr12:57168428..57314014 [GRCh37]
Chr12:12q13.3
uncertain significance
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 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
NM_003725.4(HSD17B6):c.24C>T (p.Phe8=) single nucleotide variant not provided [RCV000959090] Chr12:56773876 [GRCh38]
Chr12:57167660 [GRCh37]
Chr12:12q13.3
likely benign
NM_003725.4(HSD17B6):c.192G>C (p.Lys64Asn) single nucleotide variant Inborn genetic diseases [RCV003275303] Chr12:56774044 [GRCh38]
Chr12:57167828 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.237G>A (p.Thr79=) single nucleotide variant not provided [RCV000888967] Chr12:56774089 [GRCh38]
Chr12:57167873 [GRCh37]
Chr12:12q13.3
benign
Single allele duplication not specified [RCV002286382] Chr12:55986511..56885590 [GRCh38]
Chr12:12q13.2-13.3
uncertain significance
NM_003725.4(HSD17B6):c.452T>C (p.Leu151Ser) single nucleotide variant Inborn genetic diseases [RCV003285756] Chr12:56782112 [GRCh38]
Chr12:57175896 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.902T>A (p.Leu301Gln) single nucleotide variant Inborn genetic diseases [RCV002793936] Chr12:56787290 [GRCh38]
Chr12:57181074 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.646A>G (p.Met216Val) single nucleotide variant Inborn genetic diseases [RCV002757802] Chr12:56784926 [GRCh38]
Chr12:57178710 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.830C>T (p.Pro277Leu) single nucleotide variant Inborn genetic diseases [RCV002854446] Chr12:56787218 [GRCh38]
Chr12:57181002 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.689C>A (p.Ala230Asp) single nucleotide variant Inborn genetic diseases [RCV002986634] Chr12:56784969 [GRCh38]
Chr12:57178753 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.745A>G (p.Ile249Val) single nucleotide variant Inborn genetic diseases [RCV002641889] Chr12:56787133 [GRCh38]
Chr12:57180917 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.322G>A (p.Gly108Arg) single nucleotide variant Inborn genetic diseases [RCV002965192] Chr12:56781982 [GRCh38]
Chr12:57175766 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.17C>T (p.Ala6Val) single nucleotide variant Inborn genetic diseases [RCV002668298] Chr12:56773869 [GRCh38]
Chr12:57167653 [GRCh37]
Chr12:12q13.3
likely benign
NM_003725.4(HSD17B6):c.575G>A (p.Arg192His) single nucleotide variant Inborn genetic diseases [RCV003010544] Chr12:56784855 [GRCh38]
Chr12:57178639 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_003725.4(HSD17B6):c.199G>A (p.Glu67Lys) single nucleotide variant Inborn genetic diseases [RCV002677929] Chr12:56774051 [GRCh38]
Chr12:57167835 [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_003725.4(HSD17B6):c.170T>C (p.Leu57Pro) single nucleotide variant Inborn genetic diseases [RCV003262282] Chr12:56774022 [GRCh38]
Chr12:57167806 [GRCh37]
Chr12:12q13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1056
Count of miRNA genes:401
Interacting mature miRNAs:429
Transcripts:ENST00000322165, ENST00000553476, ENST00000554150, ENST00000554155, ENST00000554643, ENST00000555159, ENST00000555805, ENST00000556481, ENST00000556650, ENST00000556875
Prediction methods:Microtar, 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
STS-W72382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,181,357 - 57,181,525UniSTSGRCh37
Build 361255,467,624 - 55,467,792RGDNCBI36
Celera1256,835,328 - 56,835,496RGD
Cytogenetic Map12q13UniSTS
HuRef1254,220,223 - 54,220,391UniSTS
GeneMap99-GB4 RH Map12252.0UniSTS
NCBI RH Map12458.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 9 9 9
Medium 504 384 917 397 286 398 437 17 1359 32 772 1006 1 233 376
Low 1704 1073 645 109 932 56 2603 870 2057 231 654 595 65 768 1428 6
Below cutoff 225 1443 153 106 684 2 1280 1223 312 133 32 8 105 203 949

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA934892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF016509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF223225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI760144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA086202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX308227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX308228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX308229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U89281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000322165   ⟹   ENSP00000318631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,763,324 - 56,787,790 (+)Ensembl
RefSeq Acc Id: ENST00000553476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,785,929 - 56,787,345 (+)Ensembl
RefSeq Acc Id: ENST00000554150   ⟹   ENSP00000452273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,752,453 - 56,787,576 (+)Ensembl
RefSeq Acc Id: ENST00000554155   ⟹   ENSP00000451497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,752,487 - 56,774,118 (+)Ensembl
RefSeq Acc Id: ENST00000554643   ⟹   ENSP00000451406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,752,449 - 56,787,790 (+)Ensembl
RefSeq Acc Id: ENST00000555159   ⟹   ENSP00000450698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,752,161 - 56,787,736 (+)Ensembl
RefSeq Acc Id: ENST00000555805   ⟹   ENSP00000451753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,752,161 - 56,787,736 (+)Ensembl
RefSeq Acc Id: ENST00000556481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,752,457 - 56,770,544 (+)Ensembl
RefSeq Acc Id: ENST00000556650   ⟹   ENSP00000452103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,752,453 - 56,774,078 (+)Ensembl
RefSeq Acc Id: ENST00000556875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,784,939 - 56,787,345 (+)Ensembl
RefSeq Acc Id: NM_003725   ⟹   NP_003716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,763,324 - 56,787,790 (+)NCBI
GRCh371257,146,237 - 57,181,574 (+)NCBI
Build 361255,443,375 - 55,467,841 (+)NCBI Archive
HuRef1254,196,071 - 54,220,440 (+)NCBI
CHM1_11257,124,603 - 57,149,178 (+)NCBI
T2T-CHM13v2.01256,731,256 - 56,755,674 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269208   ⟹   XP_005269265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,763,324 - 56,787,790 (+)NCBI
GRCh371257,146,237 - 57,181,574 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719672   ⟹   XP_006719735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,763,324 - 56,787,790 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538927   ⟹   XP_011537229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,763,324 - 56,787,790 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449251   ⟹   XP_024305019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,763,324 - 56,787,790 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429802   ⟹   XP_047285758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,763,324 - 56,784,920 (+)NCBI
RefSeq Acc Id: XM_054373694   ⟹   XP_054229669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,369 - 56,755,674 (+)NCBI
RefSeq Acc Id: XM_054373695   ⟹   XP_054229670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,359 - 56,755,674 (+)NCBI
RefSeq Acc Id: XM_054373696   ⟹   XP_054229671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,386 - 56,755,674 (+)NCBI
RefSeq Acc Id: XM_054373697   ⟹   XP_054229672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,400 - 56,755,674 (+)NCBI
RefSeq Acc Id: XM_054373698   ⟹   XP_054229673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,396 - 56,755,674 (+)NCBI
RefSeq Acc Id: XM_054373699   ⟹   XP_054229674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,369 - 56,755,674 (+)NCBI
RefSeq Acc Id: XM_054373700   ⟹   XP_054229675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,400 - 56,755,674 (+)NCBI
RefSeq Acc Id: XM_054373701   ⟹   XP_054229676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01256,720,400 - 56,755,674 (+)NCBI
Protein Sequences
Protein RefSeqs NP_003716 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269265 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719735 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537229 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305019 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285758 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229669 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229670 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229671 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229672 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229673 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229674 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229675 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229676 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB67236 (Get FASTA)   NCBI Sequence Viewer  
  AAB88252 (Get FASTA)   NCBI Sequence Viewer  
  AAF81017 (Get FASTA)   NCBI Sequence Viewer  
  AAH20710 (Get FASTA)   NCBI Sequence Viewer  
  AGL08019 (Get FASTA)   NCBI Sequence Viewer  
  AGL08020 (Get FASTA)   NCBI Sequence Viewer  
  AGL08021 (Get FASTA)   NCBI Sequence Viewer  
  BAG36215 (Get FASTA)   NCBI Sequence Viewer  
  EAW96963 (Get FASTA)   NCBI Sequence Viewer  
  EAW96964 (Get FASTA)   NCBI Sequence Viewer  
  EAW96965 (Get FASTA)   NCBI Sequence Viewer  
  EAW96966 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318631
  ENSP00000318631.1
  ENSP00000450698.1
  ENSP00000451406.1
  ENSP00000451497.1
  ENSP00000451753.1
  ENSP00000452103.1
  ENSP00000452273.1
GenBank Protein O14756 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003716   ⟸   NM_003725
- Peptide Label: precursor
- UniProtKB: O43275 (UniProtKB/Swiss-Prot),   O14756 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269265   ⟸   XM_005269208
- Peptide Label: isoform X1
- UniProtKB: O43275 (UniProtKB/Swiss-Prot),   O14756 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719735   ⟸   XM_006719672
- Peptide Label: isoform X1
- UniProtKB: O43275 (UniProtKB/Swiss-Prot),   O14756 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537229   ⟸   XM_011538927
- Peptide Label: isoform X1
- UniProtKB: O43275 (UniProtKB/Swiss-Prot),   O14756 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305019   ⟸   XM_024449251
- Peptide Label: isoform X2
- UniProtKB: A0A219K5H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451753   ⟸   ENST00000555805
RefSeq Acc Id: ENSP00000450698   ⟸   ENST00000555159
RefSeq Acc Id: ENSP00000452103   ⟸   ENST00000556650
RefSeq Acc Id: ENSP00000318631   ⟸   ENST00000322165
RefSeq Acc Id: ENSP00000451406   ⟸   ENST00000554643
RefSeq Acc Id: ENSP00000452273   ⟸   ENST00000554150
RefSeq Acc Id: ENSP00000451497   ⟸   ENST00000554155
RefSeq Acc Id: XP_047285758   ⟸   XM_047429802
- Peptide Label: isoform X3
- UniProtKB: A0A219K684 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229670   ⟸   XM_054373695
- Peptide Label: isoform X1
- UniProtKB: O14756 (UniProtKB/Swiss-Prot),   O43275 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229669   ⟸   XM_054373694
- Peptide Label: isoform X1
- UniProtKB: O14756 (UniProtKB/Swiss-Prot),   O43275 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229674   ⟸   XM_054373699
- Peptide Label: isoform X1
- UniProtKB: O14756 (UniProtKB/Swiss-Prot),   O43275 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229671   ⟸   XM_054373696
- Peptide Label: isoform X1
- UniProtKB: O14756 (UniProtKB/Swiss-Prot),   O43275 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229673   ⟸   XM_054373698
- Peptide Label: isoform X1
- UniProtKB: O14756 (UniProtKB/Swiss-Prot),   O43275 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229676   ⟸   XM_054373701
- Peptide Label: isoform X2
- UniProtKB: A0A219K5H4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229672   ⟸   XM_054373697
- Peptide Label: isoform X1
- UniProtKB: O14756 (UniProtKB/Swiss-Prot),   O43275 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229675   ⟸   XM_054373700
- Peptide Label: isoform X1
- UniProtKB: O14756 (UniProtKB/Swiss-Prot),   O43275 (UniProtKB/Swiss-Prot),   B2R8L8 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14756-F1-model_v2 AlphaFold O14756 1-317 view protein structure

Promoters
RGD ID:7224471
Promoter ID:EPDNEW_H17979
Type:initiation region
Name:HSD17B6_1
Description:hydroxysteroid 17-beta dehydrogenase 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17976  EPDNEW_H17977  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,763,324 - 56,763,384EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23316 AgrOrtholog
COSMIC HSD17B6 COSMIC
Ensembl Genes ENSG00000025423 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000322165 ENTREZGENE
  ENST00000322165.1 UniProtKB/Swiss-Prot
  ENST00000554150.5 UniProtKB/Swiss-Prot
  ENST00000554155.1 UniProtKB/TrEMBL
  ENST00000554643.5 UniProtKB/Swiss-Prot
  ENST00000555159.5 UniProtKB/Swiss-Prot
  ENST00000555805.5 UniProtKB/Swiss-Prot
  ENST00000556650.5 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000025423 GTEx
HGNC ID HGNC:23316 ENTREZGENE
Human Proteome Map HSD17B6 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8630 UniProtKB/Swiss-Prot
NCBI Gene 8630 ENTREZGENE
OMIM 606623 OMIM
PANTHER 17-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 9C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671671 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADH_SHORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A219K5H4 ENTREZGENE, UniProtKB/TrEMBL
  A0A219K684 ENTREZGENE, UniProtKB/TrEMBL
  A0A219KCD5_HUMAN UniProtKB/TrEMBL
  B2R8L8 ENTREZGENE, UniProtKB/TrEMBL
  G3V3Y9_HUMAN UniProtKB/TrEMBL
  G3V508_HUMAN UniProtKB/TrEMBL
  H17B6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O43275 ENTREZGENE
UniProt Secondary O43275 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 HSD17B6  hydroxysteroid 17-beta dehydrogenase 6  HSD17B6  hydroxysteroid (17-beta) dehydrogenase 6  Symbol and/or name change 5135510 APPROVED
2013-01-22 HSD17B6  hydroxysteroid (17-beta) dehydrogenase 6  HSD17B6  hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)  Symbol and/or name change 5135510 APPROVED