B3GAT2 (beta-1,3-glucuronyltransferase 2)

Gene Basic Information

Gene Basic Information

symbol:
B3GAT2
locus group:
protein-coding gene
location:
6q13
gene_family:
Beta-1,3-glucuronyltransferases
alias symbol:
GlcAT-S
alias name:
glucuronosyltransferase S|galactos…
entrez id:
135152
ensembl gene id:
ENSG00000112309
ucsc gene id:
uc003pfv.4
refseq accession:
NM_080742
hgnc_id:
HGNC:922
approved reserved:
2000-01-07

Chromosome Location

Chromosome Location

6q13

Gene Summary

Gene Summary

B3GAT2（β-1,3-葡糖醛酸转移酶2）属于B3GAT基因家族，该家族成员编码的酶参与糖胺聚糖（GAG）的生物合成，特别是硫酸乙酰肝素和硫酸软骨素等细胞外基质成分的修饰。B3GAT2的主要功能是在糖胺聚糖链的还原端添加葡糖醛酸，这一步骤对GAG的结构和功能至关重要。B3GAT2在多种组织中表达，尤其在神经系统和免疫系统中发挥重要作用。B3GAT2的突变可能导致糖胺聚糖合成异常，进而影响细胞信号传导、细胞粘附和发育过程。已有研究表明，B3GAT2的异常表达可能与某些神经系统疾病和免疫系统疾病相关。当B3GAT2过表达时，可能导致糖胺聚糖的过度修饰，影响细胞外基质的结构和功能，进而干扰细胞间的通讯和组织发育。相反，B3GAT2表达降低可能导致糖胺聚糖合成不足，影响细胞粘附和迁移，可能导致发育缺陷或免疫功能异常。B3GAT基因家族的共性在于它们都编码参与糖胺聚糖合成的糖基转移酶，这些酶在细胞外基质的形成和功能中起关键作用。B3GAT2与其他家族成员（如B3GAT1和B3GAT3）在功能上有部分重叠，但各自的组织分布和底物特异性可能不同。了解B3GAT2的功能和调控机制对于研究相关疾病的发病机制和开发潜在的治疗策略具有重要意义。

ChineseEnglish

The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]

OMIM entry for B3GAT2     Wikipedia entry for B3GAT2

Gene Sequence

Gene Sequence

Nucleotide sequence of B3GAT2:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MKSALFTRFF ILLPWILIVI IMLDVDTRRP VPPLTPRPYF
41SPYAVGRGGA RLPLRRGGPA HGTQKRNQSR PQPQPEPQLP
81 TIYAITPTY SRPVQKAELT RLANTFRQVA QLHWILVEDA
121AARSELVSRF LARAGLPSTH LHVPTPRRYK RPGLPRATEQ
161R NAGLAWLR QRHQHQRAQP GVLFFADDDN TYSLELFQEM
201RTTRKVSVWP VGLVGGRRYE RPLVENGKVV GWYTGWRADR
241PF AIDMAGF AVSLQVILSN PKAVFKRRGS QPGMQESDFL
281KQITTVEELE PKANNCTKVL VWHTRTEKVN LANEPKYHLD
321TVK IEV
结构预测来自 AlphaFold DB（UniProt: Q9NPZ5），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of B3GAT2:           Showing partial SNPs
rs9680       rs473861       rs483894       rs490887       rs494314       rs495433       rs496249       rs510737       rs521116       rs540616       rs542361       rs543556       rs545931       rs554959       rs555574       rs563262       rs568986      

Gene Expression

Gene Expression

Tissue expression of B3GAT2:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GATGCAAGAATCTGACTTTCTC
57
CACGAGAACCTTAGTGCAG
58
AATAACTGCACTAAGGTTCTCG
58
TGTCCAGGTGGTACTTTGG
59
ATAACTGCACTAAGGTTCTCGT
59
TGTCCAGGTGGTACTTTGG
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of B3GAT2 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for B3GAT2:

GO ID
Protein
Source DB
GO:0015018
A0A087WXU9 (UniProtKB)
IEA
GO:0016021
A0A087WXU9 (UniProtKB)
IEA
GO:0000139
Q9NPZ5 (UniProtKB)
TAS
GO:0005975
Q9NPZ5 (UniProtKB)
IBA
GO:0006486
Q9NPZ5 (UniProtKB)
IEA
GO:0015018
Q9NPZ5 (UniProtKB)
ISS
GO:0015018
Q9NPZ5 (UniProtKB)
IBA
GO:0015018
Q9NPZ5 (UniProtKB)
TAS
GO:0016021
Q9NPZ5 (UniProtKB)
IEA
GO:0030203
Q9NPZ5 (UniProtKB)
TAS
GO:0030204
Q9NPZ5 (UniProtKB)
IBA
GO:0046872
Q9NPZ5 (UniProtKB)
IEA
GO:0050650
Q9NPZ5 (UniProtKB)
IBA

Related microRNA

Related microRNA

microRNAs potentially regulating B3GAT2:     

Gene Interactions

Gene Interactions

String
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Anemia, Sickle Cell 0.002367032 1 1 GAD
Schizophrenia 0.000271442 1 0 BeFree

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