UGT2A2 (UDP glucuronosyltransferase family 2 member A2) - Rat Genome Database
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Gene: UGT2A2 (UDP glucuronosyltransferase family 2 member A2) Homo sapiens
Analyze
Symbol: UGT2A2
Name: UDP glucuronosyltransferase family 2 member A2
RGD ID: 1601678
HGNC Page HGNC
Description: Predicted to have glucuronosyltransferase activity. Predicted to localize to endoplasmic reticulum membrane and integral component of membrane; PARTICIPATES IN ascorbate and aldarate metabolic pathway; O-linked glycan biosynthetic pathway; pentose and glucuronate interconversion pathway; INTERACTS WITH benzo[a]pyrene; benzo[e]pyrene; methapyrilene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: UDP glucuronosyltransferase 2 family, polypeptide A2; UDP-glucuronosyltransferase 2A2; UDPGT 2A2
RGD Orthologs
Mouse
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 Ensembl469,588,417 - 69,639,642 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl469,589,309 - 69,639,642 (-)EnsemblGRCh38hg38GRCh38
GRCh38469,588,417 - 69,639,642 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37470,454,135 - 70,505,360 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36470,489,679 - 70,539,923 (-)NCBINCBI36hg18NCBI36
Celera467,801,132 - 67,858,275 (-)NCBI
Cytogenetic Map4q13.3NCBI
HuRef466,252,679 - 66,303,221 (-)NCBIHuRef
CHM1_1470,490,004 - 70,541,192 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9847074   PMID:10359671   PMID:15815621   PMID:16141793   PMID:19858781   PMID:23086198   PMID:23756265   PMID:28514442  


Genomics

Comparative Map Data
UGT2A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl469,588,417 - 69,639,642 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl469,589,309 - 69,639,642 (-)EnsemblGRCh38hg38GRCh38
GRCh38469,588,417 - 69,639,642 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37470,454,135 - 70,505,360 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36470,489,679 - 70,539,923 (-)NCBINCBI36hg18NCBI36
Celera467,801,132 - 67,858,275 (-)NCBI
Cytogenetic Map4q13.3NCBI
HuRef466,252,679 - 66,303,221 (-)NCBIHuRef
CHM1_1470,490,004 - 70,541,192 (-)NCBICHM1_1
Ugt2a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39587,607,352 - 87,630,117 (-)NCBIGRCm39mm39
GRCm38587,459,493 - 87,482,258 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl587,459,490 - 87,482,260 (-)EnsemblGRCm38mm10GRCm38
MGSCv37587,888,518 - 87,911,283 (-)NCBIGRCm37mm9NCBIm37
MGSCv36588,534,054 - 88,556,819 (-)NCBImm8
Celera584,675,884 - 84,698,650 (-)NCBICelera
Cytogenetic Map5E1NCBI

Position Markers
UGT2A1_9200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37470,454,818 - 70,455,353UniSTSGRCh37
Build 36470,489,407 - 70,489,942RGDNCBI36
Celera467,800,860 - 67,801,395RGD
HuRef466,253,362 - 66,253,897UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:70
Count of miRNA genes:35
Interacting mature miRNAs:35
Transcripts:ENST00000604021, ENST00000604629
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
Medium 107 9 9 4 98 1
Low 2 16 377 146 15 145 378 1 232 46 16 31 1 1 157
Below cutoff 286 687 239 178 406 75 1237 194 457 44 523 254 104 175 756

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000604021   ⟹   ENSP00000474383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl469,589,309 - 69,639,642 (-)Ensembl
RefSeq Acc Id: ENST00000604629   ⟹   ENSP00000475028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl469,589,309 - 69,639,642 (-)Ensembl
RefSeq Acc Id: NM_001105677   ⟹   NP_001099147
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38469,588,417 - 69,639,642 (-)NCBI
GRCh37470,454,135 - 70,505,360 (-)ENTREZGENE
Build 36470,489,679 - 70,539,923 (-)NCBI Archive
Celera467,801,132 - 67,858,275 (-)RGD
HuRef466,252,679 - 66,303,221 (-)ENTREZGENE
CHM1_1470,490,004 - 70,541,192 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301233   ⟹   NP_001288162
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38469,588,417 - 69,639,642 (-)NCBI
CHM1_1470,490,004 - 70,541,192 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001099147 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288162 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein ACV70034 (Get FASTA)   NCBI Sequence Viewer  
  ACV70035 (Get FASTA)   NCBI Sequence Viewer  
  P0DTE5 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001099147   ⟸   NM_001105677
- Peptide Label: isoform UGT2A2_i1
- UniProtKB: Q9Y4X1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288162   ⟸   NM_001301233
- Peptide Label: isoform UGT2A2_i2
- UniProtKB: Q9Y4X1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000474383   ⟸   ENST00000604021
RefSeq Acc Id: ENSP00000475028   ⟸   ENST00000604629

Promoters
RGD ID:6867604
Promoter ID:EPDNEW_H6967
Type:single initiation site
Name:UGT2A2_1
Description:UDP glucuronosyltransferase family 2 member A2
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
GRCh38469,594,673 - 69,594,733EPDNEW

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_001105677.2(UGT2A2):c.1604G>A (p.Arg535Lys) single nucleotide variant Malignant melanoma [RCV000066495] Chr4:69589379 [GRCh38]
Chr4:70455097 [GRCh37]
Chr4:70489686 [NCBI36]
Chr4:4q13.3
not provided
NM_001105677.2(UGT2A2):c.1413C>T (p.Ile471=) single nucleotide variant Malignant melanoma [RCV000066496] Chr4:69589570 [GRCh38]
Chr4:70455288 [GRCh37]
Chr4:70489877 [NCBI36]
Chr4:4q13.3
not provided
NM_001105677.2(UGT2A2):c.1042G>A (p.Gly348Arg) single nucleotide variant Malignant melanoma [RCV000066497] Chr4:69595231 [GRCh38]
Chr4:70460949 [GRCh37]
Chr4:70495538 [NCBI36]
Chr4:4q13.3
not provided
NM_001105677.2(UGT2A2):c.739T>A (p.Leu247Ile) single nucleotide variant Malignant melanoma [RCV000066498] Chr4:69638902 [GRCh38]
Chr4:70504620 [GRCh37]
Chr4:70539209 [NCBI36]
Chr4:4q13.3
not provided
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 4q13.2-13.3(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 4q13.2-13.3(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
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(chr4:70062986-70469129)x3 copy number gain not provided [RCV000743671] Chr4:70062986..70469129 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:70438763-70469495)x3 copy number gain not provided [RCV000743685] Chr4:70438763..70469495 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:70467109-70473887)x1 copy number loss not provided [RCV000743686] Chr4:70467109..70473887 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:70467612-70470056)x0 copy number loss not provided [RCV000743687] Chr4:70467612..70470056 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:70468762-70473887)x1 copy number loss not provided [RCV000743688] Chr4:70468762..70473887 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2(chr4:70469181-70473622)x1 copy number loss not provided [RCV000743689] Chr4:70469181..70473622 [GRCh37]
Chr4:4q13.2
benign
GRCh37/hg19 4q13.2-13.3(chr4:70487120-70517952)x1 copy number loss not provided [RCV000743690] Chr4:70487120..70517952 [GRCh37]
Chr4:4q13.2-13.3
benign
GRCh37/hg19 4q13.2-13.3(chr4:70488786-70504313)x3 copy number gain not provided [RCV000743691] Chr4:70488786..70504313 [GRCh37]
Chr4:4q13.2-13.3
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_001105677.2(UGT2A2):c.1396C>T (p.Arg466Ter) single nucleotide variant not provided [RCV000972235] Chr4:69589587 [GRCh38]
Chr4:70455305 [GRCh37]
Chr4:4q13.3
likely benign
NM_001105677.2(UGT2A2):c.1068C>T (p.Asn356=) single nucleotide variant not provided [RCV000914738] Chr4:69595205 [GRCh38]
Chr4:70460923 [GRCh37]
Chr4:4q13.3
likely benign
NM_001105677.2(UGT2A2):c.825T>G (p.Arg275=) single nucleotide variant not provided [RCV000914739] Chr4:69599312 [GRCh38]
Chr4:70465030 [GRCh37]
Chr4:4q13.3
likely benign
NM_001105677.2(UGT2A2):c.1197A>T (p.Gly399=) single nucleotide variant not provided [RCV000971274] Chr4:69594611 [GRCh38]
Chr4:70460329 [GRCh37]
Chr4:4q13.3
benign
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_001105677.2(UGT2A2):c.1206G>A (p.Met402Ile) single nucleotide variant not provided [RCV000961532] Chr4:69594602 [GRCh38]
Chr4:70460320 [GRCh37]
Chr4:4q13.3
benign
NM_001105677.2(UGT2A2):c.1047G>T (p.Lys349Asn) single nucleotide variant not provided [RCV000890729] Chr4:69595226 [GRCh38]
Chr4:70460944 [GRCh37]
Chr4:4q13.3
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:28183 AgrOrtholog
COSMIC UGT2A2 COSMIC
Ensembl Genes ENSG00000271271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000474383 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475028 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000604021 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000604629 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000271271 GTEx
HGNC ID HGNC:28183 ENTREZGENE
Human Proteome Map UGT2A2 Human Proteome Map
InterPro UDP_glucos_trans UniProtKB/Swiss-Prot
  UDP_glycos_trans_CS UniProtKB/Swiss-Prot
NCBI Gene 574537 ENTREZGENE
Pfam UDPGT UniProtKB/Swiss-Prot
PharmGKB PA142670640 PharmGKB
UniGene Hs.225950 ENTREZGENE
UniProt P0DTE5 ENTREZGENE
  Q9Y4X1 ENTREZGENE
  UD2A2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4E2F4 UniProtKB/Swiss-Prot
  D3GER1 UniProtKB/Swiss-Prot
  D3GER2 UniProtKB/Swiss-Prot
  E9PDM7 UniProtKB/Swiss-Prot
  J3KNA3 UniProtKB/Swiss-Prot
  Q9Y4X1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 UGT2A2  UDP glucuronosyltransferase family 2 member A2    UDP glucuronosyltransferase 2 family, polypeptide A2  Symbol and/or name change 5135510 APPROVED