B3GAT2 (beta-1,3-glucuronyltransferase 2) - Rat Genome Database

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Gene: B3GAT2 (beta-1,3-glucuronyltransferase 2) Homo sapiens
Analyze
Symbol: B3GAT2
Name: beta-1,3-glucuronyltransferase 2
RGD ID: 1348026
HGNC Page HGNC
Description: Predicted to enable galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. Predicted to be involved in carbohydrate metabolic process and chondroitin sulfate proteoglycan biosynthetic process. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. Implicated in Barrett's esophagus and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2; glcAT-D; GLCATS; glucuronosyltransferase S; KIAA1963; MGC138535; UDP-glucuronosyltransferase S; UDP-glucuronyltransferase S; uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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 Ensembl670,856,679 - 70,957,060 (-)EnsemblGRCh38hg38GRCh38
GRCh38670,856,679 - 70,957,060 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37671,566,382 - 71,666,763 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36671,627,790 - 71,723,509 (-)NCBINCBI36hg18NCBI36
Build 34671,628,086 - 71,722,853NCBI
Celera671,959,433 - 72,055,143 (-)NCBI
Cytogenetic Map6q13NCBI
HuRef668,769,278 - 68,864,888 (-)NCBIHuRef
CHM1_1671,737,354 - 71,833,061 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11853319   PMID:12477932   PMID:12522689   PMID:14574404   PMID:14702039   PMID:15039073   PMID:15470230   PMID:16344560   PMID:16897771   PMID:19913121   PMID:20628086   PMID:21326311  
PMID:21873635   PMID:23251661   PMID:30021884  


Genomics

Comparative Map Data
B3GAT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl670,856,679 - 70,957,060 (-)EnsemblGRCh38hg38GRCh38
GRCh38670,856,679 - 70,957,060 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37671,566,382 - 71,666,763 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36671,627,790 - 71,723,509 (-)NCBINCBI36hg18NCBI36
Build 34671,628,086 - 71,722,853NCBI
Celera671,959,433 - 72,055,143 (-)NCBI
Cytogenetic Map6q13NCBI
HuRef668,769,278 - 68,864,888 (-)NCBIHuRef
CHM1_1671,737,354 - 71,833,061 (-)NCBICHM1_1
B3gat2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39123,801,007 - 23,886,946 (+)NCBIGRCm39mm39
GRCm39 Ensembl123,800,834 - 23,888,239 (+)Ensembl
GRCm38123,761,926 - 23,847,865 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl123,761,753 - 23,849,158 (+)EnsemblGRCm38mm10GRCm38
MGSCv37123,768,765 - 23,854,704 (+)NCBIGRCm37mm9NCBIm37
MGSCv36123,716,201 - 23,802,140 (+)NCBImm8
Celera123,601,584 - 23,685,031 (+)NCBICelera
Cytogenetic Map1A5NCBI
B3gat2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2926,167,174 - 26,250,153 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl929,984,077 - 30,068,649 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0929,984,077 - 30,068,649 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0928,816,204 - 28,899,282 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera923,707,399 - 23,790,189 (+)NCBICelera
Cytogenetic Map9q13NCBI
B3gat2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554885,866,148 - 5,926,567 (-)NCBIChiLan1.0ChiLan1.0
B3GAT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1671,990,946 - 72,085,924 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0668,691,690 - 68,790,992 (-)NCBIMhudiblu_PPA_v0panPan3
B3GAT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11233,321,691 - 33,400,516 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1233,321,208 - 33,401,171 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1233,180,547 - 33,259,383 (-)NCBI
ROS_Cfam_1.01233,861,787 - 33,940,602 (-)NCBI
UMICH_Zoey_3.11233,391,274 - 33,470,107 (-)NCBI
UNSW_CanFamBas_1.01233,433,981 - 33,513,113 (-)NCBI
UU_Cfam_GSD_1.01233,546,110 - 33,624,997 (-)NCBI
B3gat2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494668,541,493 - 68,616,253 (-)NCBI
SpeTri2.0NW_0049366182,703,445 - 2,773,598 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B3GAT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl150,938,250 - 51,041,584 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1150,941,967 - 51,041,586 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2157,280,055 - 57,379,177 (-)NCBISscrofa10.2Sscrofa10.2susScr3
B3GAT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1174,080,648 - 4,150,371 (+)NCBI
ChlSab1.1 Ensembl174,081,403 - 4,149,335 (+)Ensembl
Vero_WHO_p1.0NW_02366605810,081,878 - 10,155,523 (+)NCBI
B3gat2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248199,018,689 - 9,099,645 (+)NCBI

Position Markers
WI-13200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,571,548 - 71,571,674UniSTSGRCh37
Build 36671,628,269 - 71,628,395RGDNCBI36
Celera671,959,912 - 71,960,038RGD
Cytogenetic Map6q13UniSTS
HuRef668,769,757 - 68,769,883UniSTS
GeneMap99-GB4 RH Map6308.66UniSTS
Whitehead-RH Map6469.1UniSTS
RH15822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,566,935 - 71,567,046UniSTSGRCh37
Build 36671,623,656 - 71,623,767RGDNCBI36
Celera671,955,300 - 71,955,411RGD
Cytogenetic Map6q13UniSTS
HuRef668,765,145 - 68,765,256UniSTS
GeneMap99-GB4 RH Map6308.66UniSTS
RH75302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,568,032 - 71,568,268UniSTSGRCh37
Build 36671,624,753 - 71,624,989RGDNCBI36
Celera671,956,396 - 71,956,632RGD
Cytogenetic Map6q13UniSTS
HuRef668,766,241 - 68,766,477UniSTS
D20S768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,571,509 - 71,571,633UniSTSGRCh37
Build 36671,628,230 - 71,628,354RGDNCBI36
Celera671,959,873 - 71,959,997RGD
Cytogenetic Map6q13UniSTS
HuRef668,769,718 - 68,769,842UniSTS
SHGC-30828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,567,300 - 71,567,400UniSTSGRCh37
Build 36671,624,021 - 71,624,121RGDNCBI36
Celera671,955,665 - 71,955,765RGD
Cytogenetic Map6q13UniSTS
HuRef668,765,510 - 68,765,610UniSTS
Stanford-G3 RH Map63276.0UniSTS
GeneMap99-GB4 RH Map6308.43UniSTS
Whitehead-RH Map6469.0UniSTS
NCBI RH Map6819.9UniSTS
GeneMap99-G3 RH Map63589.0UniSTS
A003B38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,571,523 - 71,571,680UniSTSGRCh37
Build 36671,628,244 - 71,628,401RGDNCBI36
Celera671,959,887 - 71,960,044RGD
Cytogenetic Map6q13UniSTS
HuRef668,769,732 - 68,769,889UniSTS
GeneMap99-GB4 RH Map6332.88UniSTS
NCBI RH Map6811.7UniSTS
D6S1413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,566,916 - 71,567,093UniSTSGRCh37
Build 36671,623,637 - 71,623,814RGDNCBI36
Celera671,955,281 - 71,955,458RGD
Cytogenetic Map6q13UniSTS
HuRef668,765,126 - 68,765,303UniSTS
GeneMap99-GB4 RH Map6309.01UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6809.4UniSTS
RH18293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,569,328 - 71,569,448UniSTSGRCh37
Build 36671,626,049 - 71,626,169RGDNCBI36
Celera671,957,692 - 71,957,812RGD
Cytogenetic Map6q13UniSTS
HuRef668,767,537 - 68,767,657UniSTS
GeneMap99-GB4 RH Map6308.55UniSTS
NCBI RH Map6808.3UniSTS
D6S1180E.1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,571,540 - 71,571,639UniSTSGRCh37
Build 36671,628,261 - 71,628,360RGDNCBI36
Celera671,959,904 - 71,960,003RGD
Cytogenetic Map6q13UniSTS
HuRef668,769,749 - 68,769,848UniSTS
GeneMap99-GB4 RH Map6307.46UniSTS
D6S1220E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,567,919 - 71,568,041UniSTSGRCh37
Build 36671,624,640 - 71,624,762RGDNCBI36
Celera671,956,284 - 71,956,405RGD
Cytogenetic Map6q13UniSTS
HuRef668,766,129 - 68,766,250UniSTS
GeneMap99-GB4 RH Map6309.8UniSTS
NCBI RH Map6814.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1510
Count of miRNA genes:868
Interacting mature miRNAs:1026
Transcripts:ENST00000230053
Prediction methods:Miranda, Targetscan
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
High
Medium 1 1 1 1 1 563 1 14 1
Low 1984 1791 1241 357 860 199 3760 1150 3095 119 1222 1294 162 1 1091 2325 1
Below cutoff 428 1182 433 226 1026 225 569 1030 62 272 203 270 9 111 463 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000230053   ⟹   ENSP00000230053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl670,856,679 - 70,957,060 (-)Ensembl
RefSeq Acc Id: ENST00000615536   ⟹   ENSP00000481320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl670,857,213 - 70,956,429 (-)Ensembl
RefSeq Acc Id: NM_080742   ⟹   NP_542780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38670,856,679 - 70,957,060 (-)NCBI
GRCh37671,566,914 - 71,667,101 (-)NCBI
Build 36671,627,790 - 71,723,509 (-)NCBI Archive
Celera671,959,433 - 72,055,143 (-)RGD
HuRef668,769,278 - 68,864,888 (-)RGD
CHM1_1671,737,354 - 71,833,061 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_542780   ⟸   NM_080742
- UniProtKB: Q9NPZ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000230053   ⟸   ENST00000230053
RefSeq Acc Id: ENSP00000481320   ⟸   ENST00000615536

Promoters
RGD ID:7208465
Promoter ID:EPDNEW_H9978
Type:initiation region
Name:B3GAT2_1
Description:beta-1,3-glucuronyltransferase 2
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
GRCh38670,957,060 - 70,957,120EPDNEW
RGD ID:6803774
Promoter ID:HG_KWN:54056
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000041150,   UC003PFW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36671,722,246 - 71,722,746 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q13(chr6:70809191-71941709)x3 copy number gain See cases [RCV000135579] Chr6:70809191..71941709 [GRCh38]
Chr6:71518894..72651412 [GRCh37]
Chr6:71575615..72708133 [NCBI36]
Chr6:6q13
uncertain significance
GRCh38/hg38 6q13(chr6:70252200-70891985)x3 copy number gain See cases [RCV000139782] Chr6:70252200..70891985 [GRCh38]
Chr6:70961903..71601688 [GRCh37]
Chr6:71018624..71658409 [NCBI36]
Chr6:6q13
likely benign
GRCh38/hg38 6q13(chr6:70794142-71972780)x3 copy number gain See cases [RCV000142320] Chr6:70794142..71972780 [GRCh38]
Chr6:71503845..72682483 [GRCh37]
Chr6:71560566..72739204 [NCBI36]
Chr6:6q13
uncertain significance
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 copy number loss See cases [RCV000142527] Chr6:64549655..83426791 [GRCh38]
Chr6:65259548..84136510 [GRCh37]
Chr6:65316269..84193229 [NCBI36]
Chr6:6q12-14.2
pathogenic
GRCh38/hg38 6q13(chr6:70026943-70923391)x3 copy number gain See cases [RCV000143243] Chr6:70026943..70923391 [GRCh38]
Chr6:70736835..71633094 [GRCh37]
Chr6:70793556..71689815 [NCBI36]
Chr6:6q13
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q13(chr6:70716539-71620525)x3 copy number gain See cases [RCV000511284] Chr6:70716539..71620525 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q13(chr6:71571478-72048250)x3 copy number gain not provided [RCV000682680] Chr6:71571478..72048250 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1 copy number loss not provided [RCV000847757] Chr6:69481460..73185349 [GRCh37]
Chr6:6q12-13
pathogenic
GRCh37/hg19 6q13(chr6:71351541-72837211)x1 copy number loss not provided [RCV001259383] Chr6:71351541..72837211 [GRCh37]
Chr6:6q13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:922 AgrOrtholog
COSMIC B3GAT2 COSMIC
Ensembl Genes ENSG00000112309 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000230053 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481320 UniProtKB/TrEMBL
Ensembl Transcript ENST00000230053 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615536 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112309 GTEx
HGNC ID HGNC:922 ENTREZGENE
Human Proteome Map B3GAT2 Human Proteome Map
InterPro Glyco_trans_43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:135152 UniProtKB/Swiss-Prot
NCBI Gene 135152 ENTREZGENE
OMIM 607497 OMIM
PANTHER PTHR10896 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25216 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXU9_HUMAN UniProtKB/TrEMBL
  B3GA2_HUMAN UniProtKB/Swiss-Prot
  Q29RV3_HUMAN UniProtKB/TrEMBL
  Q9NPZ5 ENTREZGENE
UniProt Secondary Q5JS09 UniProtKB/Swiss-Prot
  Q8TF38 UniProtKB/Swiss-Prot
  Q96NK4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-15 B3GAT2  beta-1,3-glucuronyltransferase 2  B3GAT2  beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)  Symbol and/or name change 5135510 APPROVED