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 binding
    (GO:0005515)
  • Protein glycosylation
    (GO:0006486)
  • Transforming growth factor beta receptor signaling pathway
    (GO:0007179)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 112.6039
    Cell Significance Index: -17.5200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 67.8117
    Cell Significance Index: -17.2000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.4886
    Cell Significance Index: -15.2300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 37.3420
    Cell Significance Index: -17.6300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.9519
    Cell Significance Index: -15.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.9624
    Cell Significance Index: -17.2200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.5453
    Cell Significance Index: -14.3300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 4.3024
    Cell Significance Index: 114.8800
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 4.3017
    Cell Significance Index: 26.5400
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.6485
    Cell Significance Index: 23.5100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.5197
    Cell Significance Index: 37.1900
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 2.4398
    Cell Significance Index: 15.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.4393
    Cell Significance Index: 187.1900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.1208
    Cell Significance Index: 403.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.0547
    Cell Significance Index: 59.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.4554
    Cell Significance Index: 36.3800
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 1.3799
    Cell Significance Index: 13.9200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.3612
    Cell Significance Index: 38.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.2836
    Cell Significance Index: 58.1800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.2128
    Cell Significance Index: 20.4300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.0040
    Cell Significance Index: 17.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9968
    Cell Significance Index: 98.6100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9928
    Cell Significance Index: 197.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9859
    Cell Significance Index: 21.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9406
    Cell Significance Index: 52.7800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.9402
    Cell Significance Index: 13.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.7975
    Cell Significance Index: 115.9200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7506
    Cell Significance Index: 81.6400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.7030
    Cell Significance Index: 33.0400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6068
    Cell Significance Index: 217.6600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.6046
    Cell Significance Index: 15.5400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5356
    Cell Significance Index: 87.1100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5295
    Cell Significance Index: 478.1400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4535
    Cell Significance Index: 9.9300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4345
    Cell Significance Index: 30.0500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4264
    Cell Significance Index: 49.6900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3996
    Cell Significance Index: 218.2300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3452
    Cell Significance Index: 4.7100
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.3278
    Cell Significance Index: 3.2800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2764
    Cell Significance Index: 20.6000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2418
    Cell Significance Index: 28.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2301
    Cell Significance Index: 10.7300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1996
    Cell Significance Index: 4.2500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1498
    Cell Significance Index: 66.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1390
    Cell Significance Index: 88.3100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1347
    Cell Significance Index: 24.2800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1216
    Cell Significance Index: 15.7100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1014
    Cell Significance Index: 12.4700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0639
    Cell Significance Index: 86.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0530
    Cell Significance Index: 99.7900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0420
    Cell Significance Index: 30.8300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.0203
    Cell Significance Index: 0.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0201
    Cell Significance Index: 30.9600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0163
    Cell Significance Index: 30.0900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0145
    Cell Significance Index: 10.9600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0046
    Cell Significance Index: 0.1600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0110
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0111
    Cell Significance Index: -8.2400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0122
    Cell Significance Index: -2.4400
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0216
    Cell Significance Index: -0.2000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0249
    Cell Significance Index: -0.3500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0283
    Cell Significance Index: -15.9400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0290
    Cell Significance Index: -13.1400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0346
    Cell Significance Index: -21.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0412
    Cell Significance Index: -7.0300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0459
    Cell Significance Index: -2.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0473
    Cell Significance Index: -13.6100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0483
    Cell Significance Index: -0.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0678
    Cell Significance Index: -6.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0854
    Cell Significance Index: -17.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0965
    Cell Significance Index: -13.2500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1027
    Cell Significance Index: -1.4600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1068
    Cell Significance Index: -5.5500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1095
    Cell Significance Index: -2.9300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1304
    Cell Significance Index: -16.7200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1325
    Cell Significance Index: -15.1800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1461
    Cell Significance Index: -10.3300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1671
    Cell Significance Index: -17.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1717
    Cell Significance Index: -13.6000
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1797
    Cell Significance Index: -1.8600
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.1933
    Cell Significance Index: -2.7800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2052
    Cell Significance Index: -4.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2140
    Cell Significance Index: -13.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2328
    Cell Significance Index: -14.6700
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.2335
    Cell Significance Index: -1.7900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2517
    Cell Significance Index: -8.0600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2601
    Cell Significance Index: -16.7800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2610
    Cell Significance Index: -9.0700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.2703
    Cell Significance Index: -3.7500
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.2840
    Cell Significance Index: -2.9300
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.2881
    Cell Significance Index: -3.2800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3057
    Cell Significance Index: -7.4600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3072
    Cell Significance Index: -15.5300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3425
    Cell Significance Index: -6.3300
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.3618
    Cell Significance Index: -3.3900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3626
    Cell Significance Index: -19.0400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3766
    Cell Significance Index: -11.9100
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.3782
    Cell Significance Index: -4.8700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3959
    Cell Significance Index: -17.5100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3987
    Cell Significance Index: -5.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic Activity:** GCNT2 is a glucosaminyl transferase that catalyzes the transfer of N-acetylglucosamine (GlcNAc) to GAGs, leading to their elongation and maturation. 2. **Tissue-Specific Expression:** GCNT2 is highly expressed in various cell types, including cardiac myocytes, syncytiotrophoblast cells, renal alpha-intercalated cells, and epithelial cells of the prostate and kidney. 3. **Signaling Pathway Modulation:** GCNT2 influences multiple signaling pathways, including the transforming growth factor beta (TGF-β) receptor pathway, phosphatidylinositol 3-kinase/protein kinase B (PI3K/Akt) pathway, and the Erk1/2 cascade. 4. **Regulation of Cell Migration and Proliferation:** GCNT2 is involved in regulating cell migration, proliferation, and differentiation, highlighting its potential role in tissue development and repair. **Pathways and Functions:** 1. **Glycosaminoglycan Biosynthesis:** GCNT2 plays a critical role in the biosynthesis of GAGs, which are essential components of the extracellular matrix and play a crucial role in maintaining tissue structure and function. 2. **Cell Migration and Proliferation:** GCNT2 modulates cell migration and proliferation by influencing signaling pathways that regulate these processes. 3. **Epithelial to Mesenchymal Transition (EMT):** GCNT2 is involved in regulating EMT, a process that is critical for tissue development, repair, and disease progression. 4. **Negative Regulation of Cell-Substrate Adhesion:** GCNT2 negatively regulates cell-substrate adhesion, which is essential for maintaining tissue homeostasis and preventing aberrant cell migration. **Clinical Significance:** 1. **Cancer Progression:** Dysregulation of GCNT2 has been implicated in cancer progression, where it promotes cell migration, proliferation, and EMT. 2. **Glycosaminoglycan-Related Disorders:** Mutations in GCNT2 have been associated with glycosaminoglycan-related disorders, such as corneal dystrophies and lens opacities. 3. **Cardiovascular Disease:** GCNT2 expression is altered in cardiovascular diseases, including atherosclerosis and cardiac fibrosis. 4. **Regenerative Medicine:** Understanding the role of GCNT2 in tissue development and repair may provide insights into the development of regenerative therapies for various diseases. In conclusion, the GCNT2 gene plays a multifaceted role in regulating cellular processes, including glycosaminoglycan biosynthesis, cell migration, proliferation, and differentiation. Further research is necessary to fully elucidate the function of GCNT2 and its clinical significance in various diseases.

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 Ensembl 7 ExpressionAtlas 1 GO 18 GeneCards 1 GeneTree 1 GeneWiki 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 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.