UGT2B28 (UDP glucuronosyltransferase family 2 member B28) - Rat Genome Database

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Gene: UGT2B28 (UDP glucuronosyltransferase family 2 member B28) Homo sapiens
Analyze
Symbol: UGT2B28
Name: UDP glucuronosyltransferase family 2 member B28
RGD ID: 1349165
HGNC Page HGNC:13479
Description: Enables glucuronosyltransferase activity. Involved in steroid metabolic process and xenobiotic glucuronidation. Located in endoplasmic reticulum and nuclear outer membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: UDP glucuronosyltransferase 2 family, polypeptide B28; UDP glycosyltransferase 2 family, polypeptide B28; UDP-glucuronosyltransferase 2B28; UDPGT 2B28
RGD Orthologs
Rat
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38469,280,475 - 69,295,050 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl469,280,475 - 69,295,050 (+)EnsemblGRCh38hg38GRCh38
GRCh37470,146,193 - 70,160,768 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36470,180,806 - 70,195,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 34470,326,976 - 70,341,527NCBI
Celera467,489,536 - 67,504,128 (+)NCBICelera
Cytogenetic Map4q13.2NCBI
HuRef465,944,695 - 65,959,246 (+)NCBIHuRef
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11300766   PMID:19572376   PMID:19898482   PMID:20056642   PMID:21679149   PMID:21873635   PMID:26215610   PMID:28882566   PMID:29357108   PMID:30628680   PMID:30652415   PMID:31805979  
PMID:33961781   PMID:35954173   PMID:36343786   PMID:36347965  


Genomics

Comparative Map Data
UGT2B28
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38469,280,475 - 69,295,050 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl469,280,475 - 69,295,050 (+)EnsemblGRCh38hg38GRCh38
GRCh37470,146,193 - 70,160,768 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36470,180,806 - 70,195,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 34470,326,976 - 70,341,527NCBI
Celera467,489,536 - 67,504,128 (+)NCBICelera
Cytogenetic Map4q13.2NCBI
HuRef465,944,695 - 65,959,246 (+)NCBIHuRef
Ugt2b34l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81421,500,948 - 21,524,095 (+)NCBIGRCr8
mRatBN7.21421,146,140 - 21,167,706 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1421,145,827 - 21,167,704 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01422,932,454 - 22,955,663 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1422,937,421 - 22,952,822 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01422,830,157 - 22,852,941 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41422,768,551 - 22,786,094 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1420,639,284 - 20,662,598 (+)NCBICelera
Cytogenetic Map14p21NCBI
LOC100624891
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1866,571,838 - 66,599,191 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2871,105,989 - 71,111,895 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in UGT2B28
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 4q13.2-13.3(chr4:68852530-69850009)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051599]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051599]|See cases [RCV000051599] Chr4:68852530..69850009 [GRCh38]
Chr4:69718248..70715727 [GRCh37]
Chr4:4q13.2-13.3		 uncertain significance|conflicting data from submitters
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_053039.1(UGT2B28):c.672C>T (p.Phe224=) single nucleotide variant Malignant melanoma [RCV000066493] Chr4:69281172 [GRCh38]
Chr4:70146890 [GRCh37]
Chr4:70181479 [NCBI36]
Chr4:4q13.2		 not provided
NM_053039.1(UGT2B28):c.1161G>A (p.Gly387=) single nucleotide variant Malignant melanoma [RCV000061031] Chr4:69290662 [GRCh38]
Chr4:70156380 [GRCh37]
Chr4:70190969 [NCBI36]
Chr4:4q13.2		 not provided
GRCh38/hg38 4q13.2(chr4:69259413-69316429)x3 copy number gain See cases [RCV000136275] Chr4:69259413..69316429 [GRCh38]
Chr4:70125131..70182147 [GRCh37]
Chr4:70159720..70216736 [NCBI36]
Chr4:4q13.2		 benign
GRCh38/hg38 4q13.2(chr4:69288177-69337501)x3 copy number gain See cases [RCV000136163] Chr4:69288177..69337501 [GRCh38]
Chr4:70153895..70203219 [GRCh37]
Chr4:70188484..70237808 [NCBI36]
Chr4:4q13.2		 benign
GRCh38/hg38 4q13.2(chr4:69288177-69364412)x3 copy number gain See cases [RCV000136191] Chr4:69288177..69364412 [GRCh38]
Chr4:70153895..70230130 [GRCh37]
Chr4:70188484..70264719 [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(chr4:68902161-70620273)x3 copy number gain See cases [RCV000136751] Chr4:68902161..70620273 [GRCh38]
Chr4:69767879..71485990 [GRCh37]
Chr4:69802468..71520579 [NCBI36]
Chr4:4q13.2-13.3		 pathogenic
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(chr4:69290388-69358840)x1 copy number loss See cases [RCV000138615] Chr4:69290388..69358840 [GRCh38]
Chr4:70156106..70224558 [GRCh37]
Chr4:70190695..70259147 [NCBI36]
Chr4:4q13.2		 likely benign
GRCh38/hg38 4q13.2-13.3(chr4:69148377-69464746)x1 copy number loss See cases [RCV000139769] Chr4:69148377..69464746 [GRCh38]
Chr4:70014095..70330464 [GRCh37]
Chr4:70048684..70365053 [NCBI36]
Chr4:4q13.2-13.3		 likely benign
GRCh38/hg38 4q13.2-13.3(chr4:68796335-69850009)x3 copy number gain See cases [RCV000140868] Chr4:68796335..69850009 [GRCh38]
Chr4:69662053..70715727 [GRCh37]
Chr4:69696642..70750316 [NCBI36]
Chr4:4q13.2-13.3		 uncertain significance
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(chr4:69290388-69358840)x3 copy number gain See cases [RCV000142862] Chr4:69290388..69358840 [GRCh38]
Chr4:70156106..70224558 [GRCh37]
Chr4:70190695..70259147 [NCBI36]
Chr4:4q13.2		 likely benign
GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3 copy number gain See cases [RCV000143121] Chr4:68799852..69853815 [GRCh38]
Chr4:69665570..70719533 [GRCh37]
Chr4:69700159..70754122 [NCBI36]
Chr4:4q13.2-13.3		 uncertain significance
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
GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3 copy number gain See cases [RCV000148108] Chr4:68852530..69850009 [GRCh38]
Chr4:69718248..70715727 [GRCh37]
Chr4:69752837..70750316 [NCBI36]
Chr4:4q13.2-13.3		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
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 4q13.1-21.1(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
NM_053039.2(UGT2B28):c.839T>C (p.Leu280Pro) single nucleotide variant not specified [RCV004320242] Chr4:69282631 [GRCh38]
Chr4:70148349 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.947T>G (p.Met316Arg) single nucleotide variant not specified [RCV004333049] Chr4:69286828 [GRCh38]
Chr4:70152546 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.776G>A (p.Arg259Gln) single nucleotide variant not specified [RCV004331148] Chr4:69282568 [GRCh38]
Chr4:70148286 [GRCh37]
Chr4:4q13.2		 uncertain significance
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 4q13.2-13.3(chr4:69717201-70563328)x1 copy number loss not provided [RCV000682415] Chr4:69717201..70563328 [GRCh37]
Chr4:4q13.2-13.3		 likely benign
GRCh37/hg19 4q13.2-13.3(chr4:70012338-71167321)x3 copy number gain not provided [RCV000682416] Chr4:70012338..71167321 [GRCh37]
Chr4:4q13.2-13.3		 uncertain significance
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(chr4:69382080-70371555)x3 copy number gain not provided [RCV000743655] Chr4:69382080..70371555 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70059746-70320578)x1 copy number loss not provided [RCV000743667] Chr4:70059746..70320578 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70062986-70321321)x3 copy number gain not provided [RCV000743668] Chr4:70062986..70321321 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70062986-70324048)x3 copy number gain not provided [RCV000743669] Chr4:70062986..70324048 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70062986-70353585)x3 copy number gain not provided [RCV000743670] Chr4:70062986..70353585 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70062986-70469129)x3 copy number gain not provided [RCV000743671] Chr4:70062986..70469129 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70065589-70321293)x3 copy number gain not provided [RCV000743672] Chr4:70065589..70321293 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70142792-70299686)x3 copy number gain not provided [RCV000743673] Chr4:70142792..70299686 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70142792-70321293)x3 copy number gain not provided [RCV000743674] Chr4:70142792..70321293 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70142792-70321971)x3 copy number gain not provided [RCV000743675] Chr4:70142792..70321971 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70142792-70353585)x3 copy number gain not provided [RCV000743676] Chr4:70142792..70353585 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70158177-70320823)x3 copy number gain not provided [RCV000743677] Chr4:70158177..70320823 [GRCh37]
Chr4:4q13.2		 benign
GRCh37/hg19 4q13.2(chr4:70158177-70321321)x3 copy number gain not provided [RCV000743678] Chr4:70158177..70321321 [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_053039.2(UGT2B28):c.1081G>T (p.Asp361Tyr) single nucleotide variant not provided [RCV000964963] Chr4:69289743 [GRCh38]
Chr4:70155461 [GRCh37]
Chr4:4q13.2		 benign
NM_053039.2(UGT2B28):c.247A>G (p.Lys83Glu) single nucleotide variant not provided [RCV000968577] Chr4:69280747 [GRCh38]
Chr4:70146465 [GRCh37]
Chr4:4q13.2		 benign
NM_053039.2(UGT2B28):c.205G>A (p.Ala69Thr) single nucleotide variant not provided [RCV000950122] Chr4:69280705 [GRCh38]
Chr4:70146423 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.966C>T (p.Asn322=) single nucleotide variant not provided [RCV000958931] Chr4:69286847 [GRCh38]
Chr4:70152565 [GRCh37]
Chr4:4q13.2		 benign
NM_053039.2(UGT2B28):c.1055G>A (p.Arg352Gln) single nucleotide variant not specified [RCV004284441] Chr4:69289717 [GRCh38]
Chr4:70155435 [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_053039.2(UGT2B28):c.1306C>A (p.Pro436Thr) single nucleotide variant not specified [RCV004305091] Chr4:69290807 [GRCh38]
Chr4:70156525 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.647A>G (p.Tyr216Cys) single nucleotide variant not specified [RCV004299816] Chr4:69281147 [GRCh38]
Chr4:70146865 [GRCh37]
Chr4:4q13.2		 uncertain significance
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
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) copy number loss not specified [RCV002053422] Chr4:61867555..74711517 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
GRCh37/hg19 4q13.2-13.3(chr4:69661413-70724847)x3 copy number gain not provided [RCV002473840] Chr4:69661413..70724847 [GRCh37]
Chr4:4q13.2-13.3		 uncertain significance
NM_053039.2(UGT2B28):c.495C>A (p.Asn165Lys) single nucleotide variant not specified [RCV004084592] Chr4:69280995 [GRCh38]
Chr4:70146713 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.553G>A (p.Gly185Arg) single nucleotide variant not specified [RCV004205021] Chr4:69281053 [GRCh38]
Chr4:70146771 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.749T>C (p.Met250Thr) single nucleotide variant not specified [RCV004103585] Chr4:69282541 [GRCh38]
Chr4:70148259 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.953C>A (p.Ala318Glu) single nucleotide variant not specified [RCV004191779] Chr4:69286834 [GRCh38]
Chr4:70152552 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.1433T>C (p.Val478Ala) single nucleotide variant not specified [RCV004123806] Chr4:69294652 [GRCh38]
Chr4:70160370 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1399G>T (p.Val467Leu) single nucleotide variant not specified [RCV004130166] Chr4:69294618 [GRCh38]
Chr4:70160336 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.302A>G (p.Gln101Arg) single nucleotide variant not specified [RCV004203002] Chr4:69280802 [GRCh38]
Chr4:70146520 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.425A>G (p.Glu142Gly) single nucleotide variant not specified [RCV004172051] Chr4:69280925 [GRCh38]
Chr4:70146643 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.92G>C (p.Gly31Ala) single nucleotide variant not specified [RCV004203954] Chr4:69280592 [GRCh38]
Chr4:70146310 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.88A>G (p.Thr30Ala) single nucleotide variant not specified [RCV004203953] Chr4:69280588 [GRCh38]
Chr4:70146306 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.625G>C (p.Glu209Gln) single nucleotide variant not specified [RCV004177938] Chr4:69281125 [GRCh38]
Chr4:70146843 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.196C>T (p.Pro66Ser) single nucleotide variant not specified [RCV004242543] Chr4:69280696 [GRCh38]
Chr4:70146414 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1124G>A (p.Gly375Asp) single nucleotide variant not specified [RCV004180717] Chr4:69290625 [GRCh38]
Chr4:70156343 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.302A>C (p.Gln101Pro) single nucleotide variant not specified [RCV004102192] Chr4:69280802 [GRCh38]
Chr4:70146520 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.872A>G (p.Glu291Gly) single nucleotide variant not specified [RCV004154678] Chr4:69286753 [GRCh38]
Chr4:70152471 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.389T>C (p.Val130Ala) single nucleotide variant not specified [RCV004210165] Chr4:69280889 [GRCh38]
Chr4:70146607 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.443T>C (p.Ile148Thr) single nucleotide variant not specified [RCV004093655] Chr4:69280943 [GRCh38]
Chr4:70146661 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.91G>A (p.Gly31Ser) single nucleotide variant not specified [RCV004089536] Chr4:69280591 [GRCh38]
Chr4:70146309 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1070T>C (p.Ile357Thr) single nucleotide variant not specified [RCV004085673] Chr4:69289732 [GRCh38]
Chr4:70155450 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1028A>C (p.Lys343Thr) single nucleotide variant not specified [RCV004095686] Chr4:69289690 [GRCh38]
Chr4:70155408 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.815C>T (p.Pro272Leu) single nucleotide variant not specified [RCV004266557] Chr4:69282607 [GRCh38]
Chr4:70148325 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1481T>C (p.Ile494Thr) single nucleotide variant not specified [RCV004265768] Chr4:69294700 [GRCh38]
Chr4:70160418 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.357T>A (p.Phe119Leu) single nucleotide variant not specified [RCV004324115] Chr4:69280857 [GRCh38]
Chr4:70146575 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1272C>A (p.Asp424Glu) single nucleotide variant not specified [RCV004356674] Chr4:69290773 [GRCh38]
Chr4:70156491 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.680G>C (p.Cys227Ser) single nucleotide variant not specified [RCV004334662] Chr4:69281180 [GRCh38]
Chr4:70146898 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.581T>C (p.Ile194Thr) single nucleotide variant not specified [RCV004340526] Chr4:69281081 [GRCh38]
Chr4:70146799 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1439C>A (p.Ala480Asp) single nucleotide variant not specified [RCV004339671] Chr4:69294658 [GRCh38]
Chr4:70160376 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1 copy number loss not provided [RCV003485417] Chr4:57584845..72430996 [GRCh37]
Chr4:4q12-13.3		 pathogenic
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1 copy number loss not provided [RCV003485422] Chr4:69146217..75500577 [GRCh37]
Chr4:4q13.2-13.3		 pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3 copy number gain not provided [RCV003484182] Chr4:63684557..71480358 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
NM_053039.2(UGT2B28):c.501G>A (p.Pro167=) single nucleotide variant not provided [RCV003439330] Chr4:69281001 [GRCh38]
Chr4:70146719 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.1522G>A (p.Val508Ile) single nucleotide variant not provided [RCV003435027] Chr4:69294741 [GRCh38]
Chr4:70160459 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.90C>T (p.Thr30=) single nucleotide variant not provided [RCV003435025] Chr4:69280590 [GRCh38]
Chr4:70146308 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.1310+6T>C single nucleotide variant not provided [RCV003439331] Chr4:69290817 [GRCh38]
Chr4:70156535 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.684T>C (p.Asp228=) single nucleotide variant not provided [RCV003435026] Chr4:69281184 [GRCh38]
Chr4:70146902 [GRCh37]
Chr4:4q13.2		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_053039.2(UGT2B28):c.1072C>T (p.Pro358Ser) single nucleotide variant not specified [RCV004479606] Chr4:69289734 [GRCh38]
Chr4:70155452 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1123G>C (p.Gly375Arg) single nucleotide variant not specified [RCV004479607] Chr4:69290624 [GRCh38]
Chr4:70156342 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1252C>A (p.His418Asn) single nucleotide variant not specified [RCV004479608] Chr4:69290753 [GRCh38]
Chr4:70156471 [GRCh37]
Chr4:4q13.2		 likely benign
NM_053039.2(UGT2B28):c.1418C>A (p.Ala473Asp) single nucleotide variant not specified [RCV004479609] Chr4:69294637 [GRCh38]
Chr4:70160355 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.1490T>C (p.Leu497Pro) single nucleotide variant not specified [RCV004479610] Chr4:69294709 [GRCh38]
Chr4:70160427 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.223G>A (p.Glu75Lys) single nucleotide variant not specified [RCV004479611] Chr4:69280723 [GRCh38]
Chr4:70146441 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.606T>A (p.Ser202Arg) single nucleotide variant not specified [RCV004479612] Chr4:69281106 [GRCh38]
Chr4:70146824 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.632T>C (p.Val211Ala) single nucleotide variant not specified [RCV004479613] Chr4:69281132 [GRCh38]
Chr4:70146850 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_053039.2(UGT2B28):c.838C>T (p.Leu280Phe) single nucleotide variant not specified [RCV004479614] Chr4:69282630 [GRCh38]
Chr4:70148348 [GRCh37]
Chr4:4q13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:287
Count of miRNA genes:152
Interacting mature miRNAs:156
Transcripts:ENST00000335568, ENST00000511240
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
SHGC-67828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37470,262,933 - 70,263,013UniSTSGRCh37
GRCh37470,153,996 - 70,154,076UniSTSGRCh37
Build 36470,188,585 - 70,188,665RGDNCBI36
Celera467,608,934 - 67,609,014UniSTS
Celera467,497,354 - 67,497,434RGD
Cytogenetic Map4q13.2UniSTS
HuRef465,952,473 - 65,952,553UniSTS
HuRef466,061,433 - 66,061,513UniSTS
GeneMap99-GB4 RH Map4422.02UniSTS


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
Medium 1 1 4 2 10 2
Low 1 1 30 52 34 30 31 50 38 12 21 2
Below cutoff 370 338 376 394 466 281 495 93 142 178 395 274 114 50 260

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000335568   ⟹   ENSP00000334276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl469,280,475 - 69,295,050 (+)Ensembl
RefSeq Acc Id: ENST00000511240   ⟹   ENSP00000427399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl469,280,499 - 69,295,050 (+)Ensembl
RefSeq Acc Id: NM_001207004   ⟹   NP_001193933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38469,280,475 - 69,295,050 (+)NCBI
GRCh37470,146,217 - 70,160,768 (+)ENTREZGENE
HuRef465,944,695 - 65,959,246 (+)RGD
Sequence:
RefSeq Acc Id: NM_053039   ⟹   NP_444267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38469,280,475 - 69,295,050 (+)NCBI
GRCh37470,146,217 - 70,160,768 (+)RGD
Build 36470,180,806 - 70,195,357 (+)NCBI Archive
Celera467,489,536 - 67,504,128 (+)RGD
HuRef465,944,695 - 65,959,246 (+)RGD
Sequence:
RefSeq Acc Id: XM_017008303   ⟹   XP_016863792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38469,280,475 - 69,295,050 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_444267   ⟸   NM_053039
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BY62 (UniProtKB/Swiss-Prot),   B5BUM0 (UniProtKB/Swiss-Prot),   Q9BY63 (UniProtKB/Swiss-Prot),   Q9BY64 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193933   ⟸   NM_001207004
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BY64 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863792   ⟸   XM_017008303
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000334276   ⟸   ENST00000335568
RefSeq Acc Id: ENSP00000427399   ⟸   ENST00000511240

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BY64-F1-model_v2 AlphaFold Q9BY64 1-529 view protein structure

Promoters
RGD ID:6867600
Promoter ID:EPDNEW_H6965
Type:single initiation site
Name:UGT2B28_1
Description:UDP glucuronosyltransferase family 2 member B28
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38469,280,475 - 69,280,535EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13479 AgrOrtholog
COSMIC UGT2B28 COSMIC
Ensembl Genes ENSG00000135226 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335568 ENTREZGENE
  ENST00000335568.10 UniProtKB/Swiss-Prot
  ENST00000511240 ENTREZGENE
  ENST00000511240.1 UniProtKB/Swiss-Prot
Gene3D-CATH Glycogen Phosphorylase B UniProtKB/Swiss-Prot
GTEx ENSG00000135226 GTEx
HGNC ID HGNC:13479 ENTREZGENE
Human Proteome Map UGT2B28 Human Proteome Map
InterPro UDP_glucos_trans UniProtKB/Swiss-Prot
  UDP_glycos_trans_CS UniProtKB/Swiss-Prot
KEGG Report hsa:54490 UniProtKB/Swiss-Prot
NCBI Gene 54490 ENTREZGENE
OMIM 606497 OMIM
PANTHER EG:EG0003.4 PROTEIN-RELATED UniProtKB/Swiss-Prot
  UDP-GLUCURONOSYLTRANSFERASE 2B10-RELATED UniProtKB/Swiss-Prot
Pfam UDPGT UniProtKB/Swiss-Prot
PharmGKB PA37779 PharmGKB
PROSITE UDPGT UniProtKB/Swiss-Prot
Superfamily-SCOP UDP-Glycosyltransferase/glycogen phosphorylase UniProtKB/Swiss-Prot
UniProt B5BUM0 ENTREZGENE
  Q9BY62 ENTREZGENE
  Q9BY63 ENTREZGENE
  Q9BY64 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B5BUM0 UniProtKB/Swiss-Prot
  Q9BY62 UniProtKB/Swiss-Prot
  Q9BY63 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 UGT2B28  UDP glucuronosyltransferase family 2 member B28    UDP glucuronosyltransferase 2 family, polypeptide B28  Symbol and/or name change 5135510 APPROVED