HSD17B11 (hydroxysteroid 17-beta dehydrogenase 11) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: HSD17B11 (hydroxysteroid 17-beta dehydrogenase 11) Homo sapiens
Analyze
Symbol: HSD17B11
Name: hydroxysteroid 17-beta dehydrogenase 11
RGD ID: 1352920
HGNC Page HGNC
Description: Enables steroid dehydrogenase activity. Involved in androgen catabolic process. Located in cytoplasm and lipid droplet.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 17-beta-HSD 11; 17-beta-HSD XI; 17-BETA-HSD11; 17-BETA-HSDXI; 17-beta-hydroxysteroid dehydrogenase 11; 17-beta-hydroxysteroid dehydrogenase type XI; 17-beta-hydroxysteroid dehydrogenase XI; 17BHSD11; CTCL tumor antigen HD-CL-03; CTCL-associated antigen HD-CL-03; cutaneous T-cell lymphoma-associated antigen HD-CL-03; dehydrogenase/reductase (SDR family) member 8; dehydrogenase/reductase SDR family member 8; DHRS8; estradiol 17-beta-dehydrogenase 11; hydroxysteroid (17-beta) dehydrogenase 11; PAN1B; retinal short-chain dehydrogenase/reductase 2; RETSDR2; SDR16C2; short chain dehydrogenase/reductase family 16C member 2; short chain dehydrogenase/reductase family 16C, member 2; T-cell lymphoma-associated antigen HD-CL-03
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh38.p13 Ensembl487,336,515 - 87,391,188 (-)EnsemblGRCh38hg38GRCh38
GRCh38487,336,515 - 87,391,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37488,257,667 - 88,312,340 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36488,476,715 - 88,531,479 (-)NCBINCBI36hg18NCBI36
Build 34488,614,943 - 88,669,507NCBI
Celera485,546,623 - 85,601,607 (-)NCBI
Cytogenetic Map4q22.1NCBI
HuRef484,003,415 - 84,058,302 (-)NCBIHuRef
CHM1_1488,234,791 - 88,289,311 (-)NCBICHM1_1
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
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
amphetamine  (ISO)
Aroclor 1254  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
ciprofibrate  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
deguelin  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
elemental selenium  (ISO)
fipronil  (EXP)
flutamide  (ISO)
folpet  (ISO)
genistein  (ISO)
glafenine  (ISO)
heptanal  (EXP)
hexanal  (EXP)
hydrogen peroxide  (EXP,ISO)
ivermectin  (EXP)
menadione  (EXP)
N,N-diethyl-m-toluamide  (EXP)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
nonanal  (EXP)
octanal  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
raloxifene  (EXP)
rotenone  (EXP)
selenium atom  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9888557   PMID:10800688   PMID:11165019   PMID:12477932   PMID:12697717   PMID:12975309   PMID:14741744   PMID:14996095   PMID:15489334   PMID:16303743   PMID:16344560  
PMID:16712791   PMID:18029348   PMID:18804447   PMID:19027726   PMID:19322201   PMID:19469652   PMID:21549806   PMID:21873635   PMID:22268729   PMID:23568457   PMID:24981860   PMID:25921289  
PMID:26186194   PMID:26472732   PMID:27025967   PMID:28190767   PMID:28380382   PMID:28514442   PMID:28692057   PMID:28902428   PMID:29111377   PMID:29180619   PMID:31091453   PMID:31594818  
PMID:31980649   PMID:32296183   PMID:32807901   PMID:33567341   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
HSD17B11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl487,336,515 - 87,391,188 (-)EnsemblGRCh38hg38GRCh38
GRCh38487,336,515 - 87,391,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37488,257,667 - 88,312,340 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36488,476,715 - 88,531,479 (-)NCBINCBI36hg18NCBI36
Build 34488,614,943 - 88,669,507NCBI
Celera485,546,623 - 85,601,607 (-)NCBI
Cytogenetic Map4q22.1NCBI
HuRef484,003,415 - 84,058,302 (-)NCBIHuRef
CHM1_1488,234,791 - 88,289,311 (-)NCBICHM1_1
Hsd17b11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395104,137,631 - 104,169,662 (-)NCBIGRCm39mm39
GRCm39 Ensembl5104,137,628 - 104,169,785 (-)Ensembl
GRCm385103,989,765 - 104,021,796 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5103,989,762 - 104,021,919 (-)EnsemblGRCm38mm10GRCm38
MGSCv375104,418,784 - 104,450,815 (-)NCBIGRCm37mm9NCBIm37
MGSCv365104,230,067 - 104,262,098 (-)NCBImm8
Celera5101,296,457 - 101,328,096 (-)NCBICelera
Cytogenetic Map5E5NCBI
Hsd17b11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2145,693,304 - 5,743,157 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl145,711,964 - 5,743,161 (+)Ensembl
Rnor_6.0147,054,724 - 7,104,567 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl147,073,445 - 7,104,566 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0147,045,735 - 7,095,462 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4146,859,573 - 6,891,511 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1146,859,572 - 6,891,510 (+)NCBI
Celera145,850,785 - 5,881,812 (+)NCBICelera
Cytogenetic Map14p22NCBI
Hsd17b11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554742,472,876 - 2,512,651 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554742,477,670 - 2,510,424 (+)NCBIChiLan1.0ChiLan1.0
HSD17B11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1490,364,769 - 90,413,522 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl490,364,769 - 90,413,522 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0479,638,500 - 79,687,204 (-)NCBIMhudiblu_PPA_v0panPan3
HSD17B11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13210,821,332 - 10,854,541 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3210,794,617 - 10,854,193 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3231,099,926 - 31,132,979 (+)NCBI
ROS_Cfam_1.03210,873,296 - 10,906,759 (-)NCBI
UMICH_Zoey_3.13210,954,508 - 10,987,556 (-)NCBI
UNSW_CanFamBas_1.03210,782,541 - 10,815,990 (-)NCBI
UU_Cfam_GSD_1.03229,139,474 - 29,172,518 (+)NCBI
HSD17B13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8131,472,576 - 131,569,993 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18131,555,517 - 131,570,067 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28140,763,903 - 140,778,297 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HSD17B11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1735,715,493 - 35,777,245 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl735,714,925 - 35,777,229 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603714,412,769 - 14,476,882 (-)NCBIVero_WHO_p1.0
Hsd17b11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248723,881,066 - 3,904,560 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH36051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37488,257,837 - 88,258,034UniSTSGRCh37
Build 36488,476,861 - 88,477,058RGDNCBI36
Celera485,546,769 - 85,546,966RGD
Cytogenetic Map4q22.1UniSTS
HuRef484,003,561 - 84,003,758UniSTS
GeneMap99-GB4 RH Map4456.96UniSTS
D4S3294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37488,258,015 - 88,258,156UniSTSGRCh37
Build 36488,477,039 - 88,477,180RGDNCBI36
Celera485,546,947 - 85,547,088RGD
Cytogenetic Map4q22.1UniSTS
HuRef484,003,739 - 84,003,880UniSTS
TNG Radiation Hybrid Map452701.0UniSTS
GeneMap99-G3 RH Map44805.0UniSTS
DHRS8_3587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37488,257,624 - 88,258,411UniSTSGRCh37
Build 36488,476,648 - 88,477,435RGDNCBI36
Celera485,546,556 - 85,547,343RGD
HuRef484,003,348 - 84,004,135UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:593
Count of miRNA genes:344
Interacting mature miRNAs:363
Transcripts:ENST00000358290, ENST00000502576, ENST00000507286, ENST00000507518, ENST00000508413, ENST00000512344, ENST00000513854
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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2408 2589 1708 603 1929 463 3570 1279 2761 381 1217 1592 155 1 1203 2113 6 1
Low 29 402 18 21 20 2 787 917 973 38 242 21 19 1 675 1
Below cutoff 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF126780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF273056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY062939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM976691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU838518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA775960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB163647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA265697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358290   ⟹   ENSP00000351035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl487,336,515 - 87,391,188 (-)Ensembl
RefSeq Acc Id: ENST00000502576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl487,337,212 - 87,374,414 (-)Ensembl
RefSeq Acc Id: ENST00000507286   ⟹   ENSP00000423775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl487,337,275 - 87,391,149 (-)Ensembl
RefSeq Acc Id: ENST00000507518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl487,336,950 - 87,373,278 (-)Ensembl
RefSeq Acc Id: ENST00000508413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl487,374,822 - 87,391,188 (-)Ensembl
RefSeq Acc Id: ENST00000512344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl487,337,049 - 87,366,000 (-)Ensembl
RefSeq Acc Id: ENST00000513854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl487,340,311 - 87,366,067 (-)Ensembl
RefSeq Acc Id: NM_016245   ⟹   NP_057329
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38487,336,515 - 87,391,188 (-)NCBI
GRCh37488,257,691 - 88,312,455 (-)RGD
Build 36488,476,715 - 88,531,479 (-)NCBI Archive
Celera485,546,623 - 85,601,607 (-)RGD
HuRef484,003,415 - 84,058,302 (-)RGD
CHM1_1488,234,774 - 88,289,311 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532021   ⟹   XP_011530323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38487,374,394 - 87,391,252 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057329   ⟸   NM_016245
- Peptide Label: precursor
- UniProtKB: Q8NBQ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530323   ⟸   XM_011532021
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000423775   ⟸   ENST00000507286
RefSeq Acc Id: ENSP00000351035   ⟸   ENST00000358290

Promoters
RGD ID:6867964
Promoter ID:EPDNEW_H7147
Type:initiation region
Name:HSD17B11_1
Description:hydroxysteroid 17-beta dehydrogenase 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7148  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38487,391,169 - 87,391,229EPDNEW
RGD ID:6867966
Promoter ID:EPDNEW_H7148
Type:initiation region
Name:HSD17B11_2
Description:hydroxysteroid 17-beta dehydrogenase 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7147  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38487,391,576 - 87,391,636EPDNEW
RGD ID:6802371
Promoter ID:HG_KWN:48685
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000253041
Position:
Human AssemblyChrPosition (strand)Source
Build 36488,531,184 - 88,531,684 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1
pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 copy number loss See cases [RCV000053297] Chr4:79575748..92412449 [GRCh38]
Chr4:80496902..93333600 [GRCh37]
Chr4:80715926..93552623 [NCBI36]
Chr4:4q21.21-22.1
pathogenic
GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3 copy number gain See cases [RCV000134183] Chr4:87067415..88158276 [GRCh38]
Chr4:87988567..89079428 [GRCh37]
Chr4:88207591..89298452 [NCBI36]
Chr4:4q21.3-22.1
uncertain significance
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3
pathogenic
GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1 copy number loss See cases [RCV000136623] Chr4:84329551..87679204 [GRCh38]
Chr4:85250704..88600356 [GRCh37]
Chr4:85469728..88819380 [NCBI36]
Chr4:4q21.23-22.1
pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24
pathogenic
GRCh38/hg38 4q21.23-22.2(chr4:84329551-93654474)x1 copy number loss See cases [RCV000139231] Chr4:84329551..93654474 [GRCh38]
Chr4:85250704..94575625 [GRCh37]
Chr4:85469728..94794648 [NCBI36]
Chr4:4q21.23-22.2
likely benign
GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1 copy number loss See cases [RCV000141424] Chr4:85449365..93973194 [GRCh38]
Chr4:86370518..94894345 [GRCh37]
Chr4:86589542..95113368 [NCBI36]
Chr4:4q21.23-22.2
pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
pathogenic
GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)x1 copy number loss See cases [RCV000446648] Chr4:85839771..93071150 [GRCh37]
Chr4:4q21.23-22.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24
pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1 copy number loss See cases [RCV000447691] Chr4:82283358..90341831 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.3-22.1(chr4:87984263-89193590)x3 copy number gain not provided [RCV000682431] Chr4:87984263..89193590 [GRCh37]
Chr4:4q21.3-22.1
uncertain significance
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q22.1(chr4:88180631-88293887)x1 copy number loss not provided [RCV000743773] Chr4:88180631..88293887 [GRCh37]
Chr4:4q22.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228) copy number loss not provided [RCV000767792] Chr4:82043901..88334228 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 copy number loss See cases [RCV000790579] Chr4:80482400..92572499 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
Single allele deletion Autosomal dominant polycystic kidney disease [RCV001254217] Chr4:88075149..90714489 [GRCh37]
Chr4:4q22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22960 AgrOrtholog
COSMIC HSD17B11 COSMIC
Ensembl Genes ENSG00000198189 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351035 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423775 UniProtKB/TrEMBL
Ensembl Transcript ENST00000358290 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000507286 UniProtKB/TrEMBL
GTEx ENSG00000198189 GTEx
HGNC ID HGNC:22960 ENTREZGENE
Human Proteome Map HSD17B11 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51170 UniProtKB/Swiss-Prot
NCBI Gene 51170 ENTREZGENE
OMIM 612831 OMIM
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391655 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RCD0_HUMAN UniProtKB/TrEMBL
  DHB11_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96HF6 UniProtKB/Swiss-Prot
  Q9UKU4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 HSD17B11  hydroxysteroid 17-beta dehydrogenase 11    hydroxysteroid (17-beta) dehydrogenase 11  Symbol and/or name change 5135510 APPROVED