B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2) - Rat Genome Database

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Gene: B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2) Homo sapiens
Analyze
Symbol: B3GNT2
Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
RGD ID: 1320774
HGNC Page HGNC
Description: Enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. Involved in poly-N-acetyllactosamine biosynthetic process. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-Gn-T1; 3-Gn-T2; B3GN-T1; B3GN-T2; B3GNT; B3GNT-2; B3GNT1; beta-1; beta-1,3-Gn-T1; beta-1,3-Gn-T2; beta-1,3-N-acetylglucosaminyltransferase bGnT-1; beta-1,3-N-acetylglucosaminyltransferase bGnT-2; beta3Gn-T1; beta3Gn-T2; BETA3GNT; BGnT-2; BGNT2; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: B3GNT2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl262,196,115 - 62,224,731 (+)EnsemblGRCh38hg38GRCh38
GRCh38262,196,115 - 62,224,731 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37262,423,250 - 62,451,866 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36262,276,766 - 62,305,370 (+)NCBINCBI36hg18NCBI36
Build 34262,334,924 - 62,363,515NCBI
Celera262,267,974 - 62,296,577 (+)NCBI
Cytogenetic Map2p15NCBI
HuRef262,161,876 - 62,190,478 (+)NCBIHuRef
CHM1_1262,353,514 - 62,382,109 (+)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
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:9892646   PMID:10580128   PMID:11042166   PMID:12464682   PMID:12477932   PMID:12855703   PMID:14555842   PMID:14686931   PMID:14702039   PMID:14759258   PMID:15489334   PMID:15560372  
PMID:16335952   PMID:17207965   PMID:18826941   PMID:20062062   PMID:21873635   PMID:21926972   PMID:21988832   PMID:22446963   PMID:23376485   PMID:24390342   PMID:24998922   PMID:25279697  
PMID:25605193   PMID:26186194   PMID:27004849   PMID:27508411   PMID:27609421   PMID:28319085   PMID:28514442   PMID:30442662   PMID:31073040  


Genomics

Comparative Map Data
B3GNT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl262,196,115 - 62,224,731 (+)EnsemblGRCh38hg38GRCh38
GRCh38262,196,115 - 62,224,731 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37262,423,250 - 62,451,866 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36262,276,766 - 62,305,370 (+)NCBINCBI36hg18NCBI36
Build 34262,334,924 - 62,363,515NCBI
Celera262,267,974 - 62,296,577 (+)NCBI
Cytogenetic Map2p15NCBI
HuRef262,161,876 - 62,190,478 (+)NCBIHuRef
CHM1_1262,353,514 - 62,382,109 (+)NCBICHM1_1
B3gnt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391122,784,739 - 22,810,336 (-)NCBIGRCm39mm39
GRCm39 Ensembl1122,709,738 - 22,810,961 (-)Ensembl
GRCm381122,834,739 - 22,860,336 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1122,759,738 - 22,860,961 (-)EnsemblGRCm38mm10GRCm38
MGSCv371122,734,739 - 22,760,336 (-)NCBIGRCm37mm9NCBIm37
MGSCv361122,734,747 - 22,765,435 (-)NCBImm8
Celera1124,970,900 - 24,996,043 (-)NCBICelera
Cytogenetic Map11A3.2NCBI
cM Map1114.22NCBI
B3gnt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21496,808,473 - 96,833,674 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl14107,592,336 - 107,617,161 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.014107,592,336 - 107,617,189 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.014107,652,782 - 107,677,930 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414103,499,471 - 103,524,296 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.114103,519,717 - 103,542,783 (-)NCBI
Celera1495,796,439 - 95,821,264 (-)NCBICelera
Cytogenetic Map14q22NCBI
B3gnt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542421,859,901 - 21,888,722 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542421,859,901 - 21,888,722 (-)NCBIChiLan1.0ChiLan1.0
B3GNT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A63,409,166 - 63,437,801 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A63,435,289 - 63,436,482 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A62,276,662 - 62,305,286 (+)NCBIMhudiblu_PPA_v0panPan3
B3GNT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11062,170,262 - 62,239,010 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1062,145,117 - 62,146,310 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1062,145,117 - 62,146,310 (+)NCBICanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1062,006,771 - 62,127,039 (+)NCBI
ROS_Cfam_1.01063,126,016 - 63,246,466 (+)NCBI
UMICH_Zoey_3.11062,809,530 - 62,929,648 (+)NCBI
UNSW_CanFamBas_1.01063,112,620 - 63,232,848 (+)NCBI
UU_Cfam_GSD_1.01063,409,638 - 63,529,912 (+)NCBI
B3gnt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629221,059,873 - 21,089,048 (-)NCBI
SpeTri2.0NW_0049364917,482,226 - 7,511,419 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B3GNT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl379,667,454 - 79,857,384 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1379,671,393 - 79,704,049 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2383,442,753 - 83,475,397 (-)NCBISscrofa10.2Sscrofa10.2susScr3
B3GNT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11444,748,997 - 44,776,815 (-)NCBI
ChlSab1.1 Ensembl1444,750,308 - 44,751,501 (-)Ensembl
Vero_WHO_p1.0NW_02366604567,060,099 - 67,087,631 (+)NCBI
B3gnt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476211,202,143 - 11,403,617 (-)NCBI

Position Markers
WI-17834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,450,939 - 62,451,088UniSTSGRCh37
Build 36262,304,443 - 62,304,592RGDNCBI36
Celera262,295,650 - 62,295,799RGD
Cytogenetic Map2p15UniSTS
HuRef262,189,551 - 62,189,700UniSTS
GeneMap99-GB4 RH Map2192.26UniSTS
Whitehead-RH Map2261.4UniSTS
RH48653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,433,546 - 62,433,676UniSTSGRCh37
Build 36262,287,050 - 62,287,180RGDNCBI36
Celera262,278,257 - 62,278,387RGD
Cytogenetic Map2p15UniSTS
HuRef262,172,158 - 62,172,288UniSTS
A005U48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,451,593 - 62,451,754UniSTSGRCh37
Build 36262,305,097 - 62,305,258RGDNCBI36
Celera262,296,304 - 62,296,465RGD
Cytogenetic Map2p15UniSTS
HuRef262,190,205 - 62,190,366UniSTS
GeneMap99-GB4 RH Map2194.5UniSTS
NCBI RH Map2349.4UniSTS
RH45152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,451,686 - 62,451,821UniSTSGRCh37
Build 36262,305,190 - 62,305,325RGDNCBI36
Celera262,296,397 - 62,296,532RGD
Cytogenetic Map2p15UniSTS
HuRef262,190,298 - 62,190,433UniSTS
GeneMap99-GB4 RH Map2189.92UniSTS
NCBI RH Map2346.7UniSTS
B3GNT1_4414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,450,134 - 62,450,948UniSTSGRCh37
Build 36262,303,638 - 62,304,452RGDNCBI36
Celera262,294,845 - 62,295,659RGD
HuRef262,188,746 - 62,189,560UniSTS
G32292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,451,593 - 62,451,754UniSTSGRCh37
Celera262,296,304 - 62,296,465UniSTS
Cytogenetic Map2p15UniSTS
HuRef262,190,205 - 62,190,366UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:718
Count of miRNA genes:309
Interacting mature miRNAs:331
Transcripts:ENST00000301998, ENST00000405767
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1330 1713 1374 362 1406 217 3207 381 1612 342 990 1565 159 1 1127 1833 6 2
Low 1109 1275 352 262 542 248 1150 1815 2122 76 470 48 16 77 955
Below cutoff 3 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000301998   ⟹   ENSP00000305595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl262,196,115 - 62,224,731 (+)Ensembl
RefSeq Acc Id: ENST00000405767   ⟹   ENSP00000384692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl262,215,518 - 62,224,549 (+)Ensembl
RefSeq Acc Id: NM_001319075   ⟹   NP_001306004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38262,215,518 - 62,224,731 (+)NCBI
CHM1_1262,372,900 - 62,382,109 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006577   ⟹   NP_006568
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38262,196,115 - 62,224,731 (+)NCBI
GRCh37262,423,262 - 62,451,866 (+)ENTREZGENE
Build 36262,276,766 - 62,305,370 (+)NCBI Archive
HuRef262,161,876 - 62,190,478 (+)ENTREZGENE
CHM1_1262,353,514 - 62,382,109 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006568   ⟸   NM_006577
- UniProtKB: Q9NY97 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306004   ⟸   NM_001319075
- UniProtKB: Q9NY97 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000384692   ⟸   ENST00000405767
RefSeq Acc Id: ENSP00000305595   ⟸   ENST00000301998

Promoters
RGD ID:6860422
Promoter ID:EPDNEW_H3376
Type:multiple initiation site
Name:B3GNT2_2
Description:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3374  EPDNEW_H3375  EPDNEW_H3377  EPDNEW_H3378  EPDNEW_H3379  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38262,195,326 - 62,195,386EPDNEW
RGD ID:6860424
Promoter ID:EPDNEW_H3377
Type:initiation region
Name:B3GNT2_1
Description:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3374  EPDNEW_H3375  EPDNEW_H3376  EPDNEW_H3378  EPDNEW_H3379  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38262,196,115 - 62,196,175EPDNEW
RGD ID:6860426
Promoter ID:EPDNEW_H3378
Type:initiation region
Name:B3GNT2_6
Description:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3374  EPDNEW_H3375  EPDNEW_H3376  EPDNEW_H3377  EPDNEW_H3379  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38262,196,339 - 62,196,399EPDNEW
RGD ID:6860428
Promoter ID:EPDNEW_H3379
Type:single initiation site
Name:B3GNT2_3
Description:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3374  EPDNEW_H3375  EPDNEW_H3376  EPDNEW_H3377  EPDNEW_H3378  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38262,215,432 - 62,215,492EPDNEW
RGD ID:6796854
Promoter ID:HG_KWN:32855
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251606
Position:
Human AssemblyChrPosition (strand)Source
Build 36262,276,419 - 62,276,919 (+)MPROMDB
RGD ID:6797314
Promoter ID:HG_KWN:32856
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000405767
Position:
Human AssemblyChrPosition (strand)Source
Build 36262,295,311 - 62,296,657 (+)MPROMDB
RGD ID:6797315
Promoter ID:HG_KWN:32857
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000340715,   UC010FCO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36262,301,556 - 62,302,822 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1 copy number loss See cases [RCV000050796] Chr2:59658846..62336083 [GRCh38]
Chr2:59885981..62563218 [GRCh37]
Chr2:59739485..62416722 [NCBI36]
Chr2:2p16.1-15
pathogenic
GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1 copy number loss See cases [RCV000054020] Chr2:56738054..62473668 [GRCh38]
Chr2:56965189..62700803 [GRCh37]
Chr2:56818693..62554307 [NCBI36]
Chr2:2p16.1-15
pathogenic
GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1 copy number loss See cases [RCV000054022] Chr2:58873039..64190332 [GRCh38]
Chr2:59100174..64417466 [GRCh37]
Chr2:58953678..64270970 [NCBI36]
Chr2:2p16.1-14
pathogenic
GRCh38/hg38 2p15(chr2:61515438-62305848)x1 copy number loss See cases [RCV000054053] Chr2:61515438..62305848 [GRCh38]
Chr2:61742573..62532983 [GRCh37]
Chr2:61596077..62386487 [NCBI36]
Chr2:2p15
pathogenic
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p15(chr2:62006650-62779065)x3 copy number gain See cases [RCV000138882] Chr2:62006650..62779065 [GRCh38]
Chr2:62233785..63006200 [GRCh37]
Chr2:62087289..62859704 [NCBI36]
Chr2:2p15
likely benign
GRCh38/hg38 2p15(chr2:62031155-62779065)x3 copy number gain See cases [RCV000141102] Chr2:62031155..62779065 [GRCh38]
Chr2:62258290..63006200 [GRCh37]
Chr2:62111794..62859704 [NCBI36]
Chr2:2p15
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1 copy number loss See cases [RCV000143007] Chr2:58031916..63611810 [GRCh38]
Chr2:58259051..63838944 [GRCh37]
Chr2:58112555..63692448 [NCBI36]
Chr2:2p16.1-15
pathogenic
GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3 copy number gain See cases [RCV000239924] Chr2:60405806..62442792 [GRCh37]
Chr2:2p16.1-15
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p16.1-15(chr2:58837279-63720819)x1 copy number loss See cases [RCV000449133] Chr2:58837279..63720819 [GRCh37]
Chr2:2p16.1-15
pathogenic
NC_000002.12:g.(?_61374256)_(62493432_?)dup duplication Schizophrenia [RCV000416716] Chr2:61374256..62493432 [GRCh38]
Chr2:61601391..62720567 [GRCh37]
Chr2:61454895..62574071 [NCBI36]
Chr2:2p15
likely pathogenic
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1 copy number loss See cases [RCV000511169] Chr2:61701437..65731084 [GRCh37]
Chr2:2p15-14
likely pathogenic
GRCh37/hg19 2p15(chr2:61576332-62775261) copy number gain Macrocephalus [RCV000626530] Chr2:61576332..62775261 [GRCh37]
Chr2:2p15
uncertain significance
GRCh37/hg19 2p15(chr2:62302506-62602053)x3 copy number gain not provided [RCV000682055] Chr2:62302506..62602053 [GRCh37]
Chr2:2p15
likely benign
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
Single allele duplication Schizophrenia [RCV000754267] Chr2:61372285..62496451 [GRCh38]
Chr2:2p15
likely pathogenic
GRCh37/hg19 2p15(chr2:62412202-62533045)x3 copy number gain not provided [RCV000740472] Chr2:62412202..62533045 [GRCh37]
Chr2:2p15
benign
NM_006577.6(B3GNT2):c.561A>G (p.Pro187=) single nucleotide variant not provided [RCV000905288] Chr2:62222781 [GRCh38]
Chr2:62449916 [GRCh37]
Chr2:2p15
benign
NM_006577.6(B3GNT2):c.408T>A (p.Asp136Glu) single nucleotide variant not provided [RCV000946615] Chr2:62222628 [GRCh38]
Chr2:62449763 [GRCh37]
Chr2:2p15
benign
GRCh37/hg19 2p16.1-15(chr2:57445335-62733206) copy number loss not provided [RCV000767552] Chr2:57445335..62733206 [GRCh37]
Chr2:2p16.1-15
likely pathogenic
NM_006577.6(B3GNT2):c.408T>G (p.Asp136Glu) single nucleotide variant not provided [RCV000963791] Chr2:62222628 [GRCh38]
Chr2:62449763 [GRCh37]
Chr2:2p15
benign
NM_006577.6(B3GNT2):c.309G>A (p.Thr103=) single nucleotide variant not provided [RCV000880756] Chr2:62222529 [GRCh38]
Chr2:62449664 [GRCh37]
Chr2:2p15
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15629 AgrOrtholog
COSMIC B3GNT2 COSMIC
Ensembl Genes ENSG00000170340 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000305595 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384692 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000301998 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405767 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000170340 GTEx
HGNC ID HGNC:15629 ENTREZGENE
Human Proteome Map B3GNT2 Human Proteome Map
InterPro Glyco_trans_31 UniProtKB/Swiss-Prot
KEGG Report hsa:10678 UniProtKB/Swiss-Prot
NCBI Gene 10678 ENTREZGENE
OMIM 605581 OMIM
PANTHER PTHR11214 UniProtKB/Swiss-Prot
Pfam Galactosyl_T UniProtKB/Swiss-Prot
PharmGKB PA25218 PharmGKB
UniProt B3GN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q54AC1 UniProtKB/Swiss-Prot
  Q9NQQ9 UniProtKB/Swiss-Prot
  Q9NQR0 UniProtKB/Swiss-Prot
  Q9NUT9 UniProtKB/Swiss-Prot