UGT2B17 (UDP glucuronosyltransferase family 2 member B17) - Rat Genome Database
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Gene: UGT2B17 (UDP glucuronosyltransferase family 2 member B17) Homo sapiens
Analyze
Symbol: UGT2B17
Name: UDP glucuronosyltransferase family 2 member B17
RGD ID: 1350006
HGNC Page HGNC
Description: Exhibits glucuronosyltransferase activity. Involved in cellular glucuronidation. Predicted to localize to intracellular membrane-bounded organelle. Implicated in osteoporosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMND12; C19-steroid-specific UDP-glucuronosyltransferase; C19-steroid-specific UDPGT; UDP glucuronosyltransferase 2 family, polypeptide B17; UDP glycosyltransferase 2 family, member B17; UDP-glucuronosyltransferase 2B17; UDP-glucuronyltransferase, family 2, beta-17; UDPGT2B17
RGD Orthologs
Mouse
Rat
Dog
Alliance Genes
More Info more info ...
Related Pseudogenes: AC021146.8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl468,537,184 - 68,568,527 (-)EnsemblGRCh38hg38GRCh38
GRCh38468,537,173 - 68,576,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37469,402,902 - 69,434,245 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36469,085,497 - 69,116,840 (-)NCBINCBI36hg18NCBI36
Build 34469,231,670 - 69,263,011NCBI
Celera449,985,485 - 50,019,693 (-)NCBI
Cytogenetic Map4q13.2NCBI
CHM1_1469,439,588 - 69,470,934 (-)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)
1-naphthaleneacetic acid  (ISO)
1-naphthol  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-Ethylhexanoic acid  (ISO)
2-Ethylphenol  (ISO)
2-naphthol  (ISO)
2-nitrofluorene  (ISO)
3-Ethylphenol  (ISO)
3-phenylpropionic acid  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-ethylphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-methylumbelliferone  (EXP,ISO)
4-tert-butylphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
amentoflavone  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
androstane-3,17-diol  (EXP)
androsterone  (EXP)
aristolochic acid  (ISO)
Aroclor 1254  (EXP,ISO)
atrazine  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzyl alcohol  (ISO)
bezafibrate  (ISO)
bicalutamide  (EXP)
biphenyl-4-ol  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
butylated hydroxyanisole  (ISO)
calcitriol  (EXP)
carbamazepine  (ISO)
carbon nanotube  (ISO)
chloramphenicol  (ISO)
ciprofibrate  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clomipramine  (ISO)
cortisol  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP,ISO)
cyproconazole  (ISO)
daidzein  (EXP)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
doxorubicin  (ISO)
elemental selenium  (ISO)
endosulfan  (EXP,ISO)
epoxiconazole  (ISO)
equol  (EXP)
ethyl methanesulfonate  (EXP)
eugenol  (EXP)
felbamate  (ISO)
fipronil  (ISO)
fluconazole  (ISO)
flumequine  (ISO)
flurbiprofen  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
gabapentin  (ISO)
genistein  (EXP,ISO)
glafenine  (ISO)
glutathione  (ISO)
hexachlorobenzene  (ISO)
hydratropic acid  (ISO)
ibuprofen  (ISO)
imipramine  (ISO)
indole-3-methanol  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
ketoconazole  (ISO)
ketoprofen  (ISO)
L-ascorbic acid  (ISO)
lansoprazole  (ISO)
Lasiocarpine  (ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
lorcaserin  (EXP)
MeIQx  (ISO)
methyl methanesulfonate  (EXP)
Mitotane  (ISO)
N-nitrosodiethylamine  (ISO)
N-Vinyl-2-pyrrolidone  (ISO)
naproxen  (ISO)
nefazodone  (ISO)
nelfinavir  (ISO)
nimesulide  (ISO)
Nonylphenol  (ISO)
O-methyleugenol  (EXP)
oltipraz  (ISO)
omeprazole  (ISO)
orphenadrine  (ISO)
p-cresol  (ISO)
p-toluidine  (ISO)
pantoprazole  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenytoin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pirprofen  (ISO)
poly(I:C)  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (ISO)
propiconazole  (ISO)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
quinolines  (ISO)
rabeprazole  (ISO)
rotenone  (ISO)
selenium atom  (ISO)
senecionine  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
tert-butyl ethyl ether  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP,ISO)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trifluralin  (ISO)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
uranium atom  (ISO)
ursodeoxycholic acid  (EXP,ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
warfarin  (EXP)
zaragozic acid A  (ISO)
zidovudine  (ISO)
zinc acetate  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:76619   PMID:6746859   PMID:8798464   PMID:9364925   PMID:11853692   PMID:15666817   PMID:16220109   PMID:16332934   PMID:16896035   PMID:17387331   PMID:17416778   PMID:17698910  
PMID:17826523   PMID:17848572   PMID:17935910   PMID:17988216   PMID:18093280   PMID:18247404   PMID:18281521   PMID:18302198   PMID:18334593   PMID:18719240   PMID:18760392   PMID:18992858  
PMID:19056415   PMID:19088161   PMID:19224506   PMID:19282302   PMID:19318555   PMID:19572376   PMID:19574343   PMID:19935662   PMID:20056642   PMID:20142249   PMID:20192879   PMID:20308471  
PMID:20429943   PMID:20554747   PMID:20628005   PMID:20736324   PMID:20810538   PMID:20876810   PMID:20878390   PMID:21365123   PMID:21614655   PMID:21677662   PMID:21873635   PMID:21919858  
PMID:22170718   PMID:22228205   PMID:22579593   PMID:22669291   PMID:22726315   PMID:22887913   PMID:22958586   PMID:23053953   PMID:23169782   PMID:23223495   PMID:23294483   PMID:23792589  
PMID:23850147   PMID:23927372   PMID:23936477   PMID:24121496   PMID:24267955   PMID:24802609   PMID:25794161   PMID:25886176   PMID:26163549   PMID:26176234   PMID:26198073   PMID:26367234  
PMID:26385605   PMID:26407805   PMID:26589911   PMID:26882814   PMID:27496708   PMID:27805301   PMID:28882566   PMID:29138287   PMID:29602798   PMID:30747308   PMID:30819787   PMID:31164411  
PMID:31343991  


Genomics

Comparative Map Data
UGT2B17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl468,537,184 - 68,568,527 (-)EnsemblGRCh38hg38GRCh38
GRCh38468,537,173 - 68,576,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37469,402,902 - 69,434,245 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36469,085,497 - 69,116,840 (-)NCBINCBI36hg18NCBI36
Build 34469,231,670 - 69,263,011NCBI
Celera449,985,485 - 50,019,693 (-)NCBI
Cytogenetic Map4q13.2NCBI
CHM1_1469,439,588 - 69,470,934 (-)NCBICHM1_1
Ugt2b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39587,064,498 - 87,074,362 (-)NCBIGRCm39mm39
GRCm38586,916,639 - 86,926,503 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl586,916,638 - 86,926,530 (-)EnsemblGRCm38mm10GRCm38
MGSCv37587,345,664 - 87,355,528 (-)NCBIGRCm37mm9NCBIm37
MGSCv36587,991,200 - 88,001,064 (-)NCBImm8
Celera584,136,470 - 84,146,336 (-)NCBICelera
Cytogenetic Map5E1NCBI
Ugt2b17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01422,724,399 - 22,736,148 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1422,724,070 - 22,825,444 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01422,625,222 - 22,636,971 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41422,639,182 - 22,650,931 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11422,639,181 - 22,650,931 (+)NCBI
Celera1420,517,697 - 20,529,446 (+)NCBICelera
Cytogenetic Map14p21NCBI
LOC100856068
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11358,911,301 - 58,932,594 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1

Position Markers
G60251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37469,527,719 - 69,527,847UniSTSGRCh37
GRCh37469,425,241 - 69,425,369UniSTSGRCh37
Celera466,869,402 - 66,869,530UniSTS
Cytogenetic Map4q13UniSTS
HuRef465,323,679 - 65,323,807UniSTS
TNG Radiation Hybrid Map438105.0UniSTS
D4S2612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37469,425,241 - 69,425,375UniSTSGRCh37
GRCh37469,527,719 - 69,527,853UniSTSGRCh37
Celera466,869,402 - 66,869,536UniSTS
Cytogenetic Map4q13UniSTS
HuRef465,323,679 - 65,323,813UniSTS
Whitehead-RH Map4470.3UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4817.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:126
Count of miRNA genes:120
Interacting mature miRNAs:122
Transcripts:ENST00000317746
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.


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
High 10
Medium 485 105 105 511 105 1 2 1 15 5 1
Low 303 47 205 205 298 177 31 14 42 44 104 111 29 14 15
Below cutoff 860 1265 694 214 669 97 1373 753 1465 165 842 775 121 445 889

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000317746   ⟹   ENSP00000320401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl468,537,184 - 68,568,527 (-)Ensembl
RefSeq Acc Id: NM_001077   ⟹   NP_001068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38468,537,173 - 68,576,322 (-)NCBI
GRCh37469,402,902 - 69,434,245 (-)ENTREZGENE
Build 36469,085,497 - 69,116,840 (-)NCBI Archive
CHM1_1469,439,588 - 69,470,934 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001068 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC25491 (Get FASTA)   NCBI Sequence Viewer  
  EAW55622 (Get FASTA)   NCBI Sequence Viewer  
  O75795 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001068   ⟸   NM_001077
- Peptide Label: precursor
- UniProtKB: O75795 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000320401   ⟸   ENST00000317746

Promoters
RGD ID:6867584
Promoter ID:EPDNEW_H6957
Type:multiple initiation site
Name:UGT2B17_1
Description:UDP glucuronosyltransferase family 2 member B17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6958  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38468,568,518 - 68,568,578EPDNEW
RGD ID:6867586
Promoter ID:EPDNEW_H6958
Type:initiation region
Name:UGT2B17_2
Description:UDP glucuronosyltransferase family 2 member B17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6957  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38468,576,053 - 68,576,113EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
nsv513778 deletion Bone mineral density quantitative trait locus 12 [RCV000008070] Chr4:4q13 association
GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 copy number loss See cases [RCV000050704] Chr4:66842408..70831557 [GRCh38]
Chr4:67708126..71697274 [GRCh37]
Chr4:67390721..71916138 [NCBI36]
Chr4:4q13.2-13.3
pathogenic
GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3 copy number gain See cases [RCV000051038] Chr4:65873016..68743024 [GRCh38]
Chr4:66738734..69608742 [GRCh37]
Chr4:66421329..69643331 [NCBI36]
Chr4:4q13.2
uncertain 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 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23
pathogenic
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 copy number loss See cases [RCV000053293] Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3
pathogenic
NM_001077.3(UGT2B17):c.1378C>T (p.Arg460Ter) single nucleotide variant Malignant melanoma [RCV000066483] Chr4:68537840 [GRCh38]
Chr4:69403558 [GRCh37]
Chr4:69086153 [NCBI36]
Chr4:4q13.2
not provided
GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3 copy number gain Cognitive impairment [RCV001004821] Chr4:66969699..69462438 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh38/hg38 4q13.2(chr4:68410654-68727128)x3 copy number gain See cases [RCV000134766] Chr4:68410654..68727128 [GRCh38]
Chr4:69276372..69592846 [GRCh37]
Chr4:68958967..69477169 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509451-68617530)x3 copy number gain See cases [RCV000136235] Chr4:68509451..68617530 [GRCh38]
Chr4:69375169..69483248 [GRCh37]
Chr4:69057764..69165843 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509451-68617530)x1 copy number loss See cases [RCV000136236] Chr4:68509451..68617530 [GRCh38]
Chr4:69375169..69483248 [GRCh37]
Chr4:69057764..69165843 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509451-68596407)x3 copy number gain See cases [RCV000136252] Chr4:68509451..68596407 [GRCh38]
Chr4:69375169..69462125 [GRCh37]
Chr4:69057764..69144720 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509451-68596407)x1 copy number loss See cases [RCV000136253] Chr4:68509451..68596407 [GRCh38]
Chr4:69375169..69462125 [GRCh37]
Chr4:69057764..69144720 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509451-68568203)x3 copy number gain See cases [RCV000136337] Chr4:68509451..68568203 [GRCh38]
Chr4:69375169..69433921 [GRCh37]
Chr4:69057764..69116516 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509451-68568203)x1 copy number loss See cases [RCV000136338] Chr4:68509451..68568203 [GRCh38]
Chr4:69375169..69433921 [GRCh37]
Chr4:69057764..69116516 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68526857-68596407)x3 copy number gain See cases [RCV000136466] Chr4:68526857..68596407 [GRCh38]
Chr4:69392575..69462125 [GRCh37]
Chr4:69075170..69144720 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509452-68617530)x3 copy number gain See cases [RCV000136175] Chr4:68509452..68617530 [GRCh38]
Chr4:69375170..69483248 [GRCh37]
Chr4:69057765..69165843 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2(chr4:68509452-68617530)x1 copy number loss See cases [RCV000136176] Chr4:68509452..68617530 [GRCh38]
Chr4:69375170..69483248 [GRCh37]
Chr4:69057765..69165843 [NCBI36]
Chr4:4q13.2
benign
GRCh38/hg38 4q13.2-13.3(chr4:68537073-69610311)x3 copy number gain See cases [RCV000137009] Chr4:68537073..69610311 [GRCh38]
Chr4:69402791..70476029 [GRCh37]
Chr4:69085386..70510618 [NCBI36]
Chr4:4q13.2-13.3
benign
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3
likely pathogenic
GRCh38/hg38 4q13.2(chr4:68508935-68647669)x3 copy number gain See cases [RCV000138744] Chr4:68508935..68647669 [GRCh38]
Chr4:69374653..69513387 [GRCh37]
Chr4:69057248..69195982 [NCBI36]
Chr4:4q13.2
likely benign
GRCh38/hg38 4q13.2(chr4:68526912-68617567)x3 copy number gain See cases [RCV000138452] Chr4:68526912..68617567 [GRCh38]
Chr4:69392630..69483285 [GRCh37]
Chr4:69075225..69165880 [NCBI36]
Chr4:4q13.2
likely benign
GRCh38/hg38 4q13.2(chr4:68526912-68617567)x1 copy number loss See cases [RCV000138453] Chr4:68526912..68617567 [GRCh38]
Chr4:69392630..69483285 [GRCh37]
Chr4:69075225..69165880 [NCBI36]
Chr4:4q13.2
likely benign
GRCh38/hg38 4q13.2(chr4:68508935-68626378)x3 copy number gain See cases [RCV000139331] Chr4:68508935..68626378 [GRCh38]
Chr4:69374653..69492096 [GRCh37]
Chr4:69057248..69174691 [NCBI36]
Chr4:4q13.2
likely benign
GRCh38/hg38 4q13.2(chr4:68471568-68617567)x3 copy number gain See cases [RCV000138975] Chr4:68471568..68617567 [GRCh38]
Chr4:69337286..69483285 [GRCh37]
Chr4:69019881..69165880 [NCBI36]
Chr4:4q13.2
likely benign
GRCh38/hg38 4q13.2(chr4:68508935-68617567)x3 copy number gain See cases [RCV000139501] Chr4:68508935..68617567 [GRCh38]
Chr4:69374653..69483285 [GRCh37]
Chr4:69057248..69165880 [NCBI36]
Chr4:4q13.2
likely benign
GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1 copy number loss See cases [RCV000142366] Chr4:67744481..70267689 [GRCh38]
Chr4:68610199..71133406 [GRCh37]
Chr4:68292794..71167995 [NCBI36]
Chr4:4q13.2-13.3
uncertain significance
GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3 copy number gain See cases [RCV000143578] Chr4:68501374..69255507 [GRCh38]
Chr4:69367092..70121225 [GRCh37]
Chr4:69049687..70155814 [NCBI36]
Chr4:4q13.2
uncertain significance
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 4q13.2(chr4:69256219-69908707)x3 copy number gain See cases [RCV000510245] Chr4:69256219..69908707 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1
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 4q13.1-13.3(chr4:64705501-73469716)x3 copy number gain not provided [RCV000682409] Chr4:64705501..73469716 [GRCh37]
Chr4:4q13.1-13.3
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 4q12-13.3(chr4:58332294-71587615)x1 copy number loss not provided [RCV000743602] Chr4:58332294..71587615 [GRCh37]
Chr4:4q12-13.3
pathogenic
GRCh37/hg19 4q13.2(chr4:69310506-69544238)x3 copy number gain not provided [RCV000743653] Chr4:69310506..69544238 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:69324506-69490603)x3 copy number gain not provided [RCV000743654] Chr4:69324506..69490603 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:69382080-70371555)x3 copy number gain not provided [RCV000743655] Chr4:69382080..70371555 [GRCh37]
Chr4:4q13.2
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
NM_001077.3(UGT2B17):c.1348C>T (p.His450Tyr) single nucleotide variant not provided [RCV000972717] Chr4:68537870 [GRCh38]
Chr4:69403588 [GRCh37]
Chr4:4q13.2
benign
NM_001077.3(UGT2B17):c.311dup (p.Asn104fs) duplication not provided [RCV000885161] Chr4:68568173..68568174 [GRCh38]
Chr4:69433891..69433892 [GRCh37]
Chr4:4q13.2
likely benign
NM_001077.3(UGT2B17):c.1139G>A (p.Gly380Asp) single nucleotide variant not provided [RCV000892546] Chr4:68550851 [GRCh38]
Chr4:69416569 [GRCh37]
Chr4:4q13.2
benign
NM_001077.3(UGT2B17):c.865T>C (p.Leu289=) single nucleotide variant not provided [RCV000880567] Chr4:68565580 [GRCh38]
Chr4:69431298 [GRCh37]
Chr4:4q13.2
likely benign
NM_001077.3(UGT2B17):c.253G>T (p.Asp85Tyr) single nucleotide variant not provided [RCV000885180] Chr4:68568232 [GRCh38]
Chr4:69433950 [GRCh37]
Chr4:4q13.2
benign
NM_001077.3(UGT2B17):c.541G>A (p.Val181Ile) single nucleotide variant not provided [RCV000969190] Chr4:68567944 [GRCh38]
Chr4:69433662 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3 copy number gain not provided [RCV001005552] Chr4:67392949..69837294 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22
pathogenic
NM_001077.3(UGT2B17):c.459C>T (p.Ala153=) single nucleotide variant not provided [RCV000917417] Chr4:68568026 [GRCh38]
Chr4:69433744 [GRCh37]
Chr4:4q13.2
likely benign
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12547 AgrOrtholog
COSMIC UGT2B17 COSMIC
Ensembl Genes ENSG00000197888 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000320401 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000317746 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000197888 GTEx
HGNC ID HGNC:12547 ENTREZGENE
Human Proteome Map UGT2B17 Human Proteome Map
InterPro UDP_glucos_trans UniProtKB/Swiss-Prot
  UDP_glycos_trans_CS UniProtKB/Swiss-Prot
KEGG Report hsa:7367 UniProtKB/Swiss-Prot
NCBI Gene 7367 ENTREZGENE
OMIM 601903 OMIM
  612560 OMIM
Pfam UDPGT UniProtKB/Swiss-Prot
PharmGKB PA37189 PharmGKB, RGD
PROSITE UDPGT UniProtKB/Swiss-Prot
UniGene Hs.575083 ENTREZGENE
UniProt O75795 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 UGT2B17  UDP glucuronosyltransferase family 2 member B17    UDP glucuronosyltransferase 2 family, polypeptide B17  Symbol and/or name change 5135510 APPROVED