Details for: GCNT2

Gene ID: 2651

Symbol: GCNT2

Ensembl ID: ENSG00000111846

Description: glucosaminyl (N-acetyl) transferase 2 (I blood group)

Associated with

  • Acetylglucosaminyltransferase activity
    (GO:0008375)
  • Glycosaminoglycan biosynthetic process
    (GO:0006024)
  • Golgi apparatus
    (GO:0005794)
  • Golgi membrane
    (GO:0000139)
  • Maintenance of lens transparency
    (GO:0036438)
  • Membrane
    (GO:0016020)
  • Multicellular organism development
    (GO:0007275)
  • N-acetyllactosaminide beta-1,6-n-acetylglucosaminyltransferase activity
    (GO:0008109)
  • Negative regulation of cell-substrate adhesion
    (GO:0010812)
  • Positive regulation of cell migration
    (GO:0030335)
  • Positive regulation of cell population proliferation
    (GO:0008284)
  • Positive regulation of epithelial to mesenchymal transition
    (GO:0010718)
  • Positive regulation of erk1 and erk2 cascade
    (GO:0070374)
  • Positive regulation of heterotypic cell-cell adhesion
    (GO:0034116)
  • Positive regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
    (GO:0051897)
  • Post-transcriptional regulation of gene expression
    (GO:0010608)
  • Protein glycosylation
    (GO:0006486)
  • Transforming growth factor beta receptor signaling pathway
    (GO:0007179)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.08
    Marker Score: 68904
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.67
    Marker Score: 2194
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.07
    Marker Score: 1090
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.86
    Marker Score: 1292
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.64
    Marker Score: 815
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.64
    Marker Score: 26293
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.56
    Marker Score: 3840.5
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168475
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.46
    Marker Score: 1294
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.39
    Marker Score: 434
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.37
    Marker Score: 5730
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.36
    Marker Score: 2381
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.35
    Marker Score: 51316
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.3
    Marker Score: 760
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.28
    Marker Score: 9816
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.28
    Marker Score: 369
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.28
    Marker Score: 3008
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.27
    Marker Score: 6685
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.26
    Marker Score: 469
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.24
    Marker Score: 6666
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.2
    Marker Score: 9069
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.15
    Marker Score: 1304
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.14
    Marker Score: 328
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.13
    Marker Score: 410
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.13
    Marker Score: 7245
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.13
    Marker Score: 7333
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.11
    Marker Score: 2552
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.11
    Marker Score: 3928.5
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.08
    Marker Score: 4193
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.07
    Marker Score: 313
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.07
    Marker Score: 15975
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.05
    Marker Score: 2805
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.04
    Marker Score: 334
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.01
    Marker Score: 3401
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71770
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47994
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.99
    Marker Score: 4276
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.98
    Marker Score: 1060
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30403
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.98
    Marker Score: 1036
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 494
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 448
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.94
    Marker Score: 1519
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.93
    Marker Score: 1124
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2725
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.91
    Marker Score: 414
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.9
    Marker Score: 917
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.89
    Marker Score: 521
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5029
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.88
    Marker Score: 4720
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.87
    Marker Score: 1535
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.85
    Marker Score: 3026
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.85
    Marker Score: 475
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.8
    Marker Score: 1285
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.79
    Marker Score: 607.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 600
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.78
    Marker Score: 226
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.78
    Marker Score: 838
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.77
    Marker Score: 1756
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.77
    Marker Score: 203
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 305
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.76
    Marker Score: 240
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.75
    Marker Score: 370
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 383
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.74
    Marker Score: 305
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.73
    Marker Score: 1335
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.73
    Marker Score: 2870
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.72
    Marker Score: 347
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 462
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.7
    Marker Score: 997
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.7
    Marker Score: 326
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.7
    Marker Score: 313
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7
    Marker Score: 24147.5
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.7
    Marker Score: 361
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 632
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.69
    Marker Score: 261
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2891
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.69
    Marker Score: 3601
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.67
    Marker Score: 239
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.67
    Marker Score: 778
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.66
    Marker Score: 363
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.66
    Marker Score: 450
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.64
    Marker Score: 5531.5
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.63
    Marker Score: 264
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.61
    Marker Score: 2941
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.61
    Marker Score: 1753
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.61
    Marker Score: 20555
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.6
    Marker Score: 350
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.58
    Marker Score: 412
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.58
    Marker Score: 1366
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.56
    Marker Score: 2357.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.56
    Marker Score: 561
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.56
    Marker Score: 291
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.56
    Marker Score: 804
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.55
    Marker Score: 133
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.55
    Marker Score: 368

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Other Information

**Key characteristics:** * GCNT2 is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is a member of the glycosaminyltransferase superfamily. * It is expressed in high levels in certain cell types, including cardiac myocytes, renal cells, and epithelial cells. **Pathways and functions:** * GCNT2 is involved in the acetylation of glucosaminoglycans, which are important components of the extracellular matrix. * It is involved in the maintenance of lens transparency by regulating the synthesis of glycosaminoglycans in the lens. * It is involved in cell migration by facilitating the transfer of a sugar moiety from the acceptor protein to the glycosaminoglycan backbone. * It is involved in epithelial to mesenchymal transition by promoting the migration of epithelial cells into a mesenchymal phenotype. * It is involved in cell-cell adhesion by facilitating the formation of cell-cell junctions. **Clinical significance:** * Mutations in GCNT2 have been linked to several human diseases, including cardiovascular disease, kidney disease, and cancer. * Overexpression of GCNT2 has been linked to the progression of some types of cancer. * Inhibition of GCNT2 has been shown to inhibit cancer growth and migration. **Additional information:** * GCNT2 is a highly conserved protein, with similar genes found in organisms from yeast to humans. * It is a substrate for a number of other enzymes, including AGT1, which is involved in the synthesis of heparan sulfate. * It is a regulator of cell growth and differentiation.

Genular Protein ID: 3534698835

Symbol: GNT2A_HUMAN

Name: I-branching enzyme

UniProtKB Accession Codes:

Q8N0V5 Q06430 Q5T4J1 Q5W0E9 Q6T5E5 Q8NFS9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 3 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 25 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 18 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 4 Rhea 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8449405

Title: Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family.

PubMed ID: 8449405

DOI: 10.1101/gad.7.3.468

PubMed ID: 7579796

Title: Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family.

PubMed ID: 7579796

DOI: 10.1093/glycob/5.4.417

PubMed ID: 12424189

Title: The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.

PubMed ID: 12424189

DOI: 10.1182/blood-2002-09-2693

PubMed ID: 12468428

Title: A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression.

PubMed ID: 12468428

DOI: 10.1182/blood-2002-09-2838

PubMed ID: 14672974

Title: Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation.

PubMed ID: 14672974

DOI: 10.1101/gr.1225204

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11739194

Title: Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.

PubMed ID: 11739194

DOI: 10.1182/blood.v98.13.3840

PubMed ID: 28839118

Title: High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

PubMed ID: 28839118

DOI: 10.1534/g3.117.300109

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

Sequence Information:

  • Length: 402
  • Mass: 45873
  • Checksum: FCA6AE905D78D7D5
  • Sequence:
    • MMGSWKHCLF SASLISALIF VFVYNTELWE NKRFLRAALS NASLLAEACH QIFEGKVFYP 
TENALKTTLD EATCYEYMVR SHYVTETLSE EEAGFPLAYT VTIHKDFGTF ERLFRAIYMP 
QNVYCVHLDQ KATDAFKGAV KQLLSCFPNA FLASKKESVV YGGISRLQAD LNCLEDLVAS 
EVPWKYVINT CGQDFPLKTN REIVQYLKGF KGKNITPGVL PPDHAVGRTK YVHQELLNHK 
NSYVIKTTKL KTPPPHDMVI YFGTAYVALT RDFANFVLQD QLALDLLSWS KDTYSPDEHF 
WVTLNRIPGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG NGDLKWLVNS 
PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW YF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.