Details for: EXT2

Gene ID: 2132

Symbol: EXT2

Ensembl ID: ENSG00000151348

Description: exostosin glycosyltransferase 2

Associated with

Cells (max top 100)

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

  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.81
    Marker Score: 27027
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.8
    Marker Score: 68251
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.78
    Marker Score: 109675
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.78
    Marker Score: 65580
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.75
    Marker Score: 6772
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.74
    Marker Score: 7079
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.74
    Marker Score: 16326
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.7
    Marker Score: 16154
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.69
    Marker Score: 12982
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.69
    Marker Score: 14531.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.65
    Marker Score: 35296
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.65
    Marker Score: 17074
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.6
    Marker Score: 31749
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.52
    Marker Score: 51244
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.51
    Marker Score: 2337
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.49
    Marker Score: 6189
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.32
    Marker Score: 553
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.27
    Marker Score: 1460
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.25
    Marker Score: 1508
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.23
    Marker Score: 1361
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 1.22
    Marker Score: 1195
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.19
    Marker Score: 337
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.17
    Marker Score: 5026
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.14
    Marker Score: 2497
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.1
    Marker Score: 17253
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.09
    Marker Score: 636
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.07
    Marker Score: 4942
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.05
    Marker Score: 3003
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.04
    Marker Score: 4360
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.04
    Marker Score: 284
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.03
    Marker Score: 604
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.03
    Marker Score: 5517
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.02
    Marker Score: 1962.5
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1
    Marker Score: 1675
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71723
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47948.5
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.99
    Marker Score: 1338
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30395
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.97
    Marker Score: 480
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.96
    Marker Score: 4715
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.96
    Marker Score: 2022
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2401
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 484.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.93
    Marker Score: 273
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2708
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.9
    Marker Score: 448.5
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.89
    Marker Score: 504
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.89
    Marker Score: 3499
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.89
    Marker Score: 281
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.88
    Marker Score: 2083
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.88
    Marker Score: 952
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.87
    Marker Score: 507
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.86
    Marker Score: 2066
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.86
    Marker Score: 331
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4863
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.85
    Marker Score: 269
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.85
    Marker Score: 447
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.84
    Marker Score: 649
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.84
    Marker Score: 529
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.83
    Marker Score: 1905
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.83
    Marker Score: 789.5
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.82
    Marker Score: 6174
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.81
    Marker Score: 2132
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.8
    Marker Score: 989
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 606
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.79
    Marker Score: 3306
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 317.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.79
    Marker Score: 1282
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.77
    Marker Score: 668
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.75
    Marker Score: 185
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.75
    Marker Score: 1700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.75
    Marker Score: 16651
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.74
    Marker Score: 414
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.74
    Marker Score: 1138
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.73
    Marker Score: 4406
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.73
    Marker Score: 11768
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.73
    Marker Score: 436
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.72
    Marker Score: 352
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.72
    Marker Score: 399
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.72
    Marker Score: 734
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.72
    Marker Score: 1023
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.72
    Marker Score: 3786
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3008.5
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.72
    Marker Score: 675
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.71
    Marker Score: 4626
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.71
    Marker Score: 258
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.71
    Marker Score: 737
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.71
    Marker Score: 2377
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.71
    Marker Score: 683
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.71
    Marker Score: 351
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.7
    Marker Score: 161
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.69
    Marker Score: 389
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.69
    Marker Score: 330
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.69
    Marker Score: 852
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 628
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.69
    Marker Score: 887

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Other Information

**Key characteristics:** * EXT2 is a transmembrane protein with a molecular weight of approximately 150 kDa. * It is expressed in a variety of cell types, including neurons, astrocytes, and endothelial cells. * EXT2 is a key regulator of exostosin production and secretion. * It is also involved in the regulation of cell migration and adhesion. **Pathways and functions:** * EXT2 is involved in the synthesis of exostoses, which are glycoproteins that are found in the extracellular matrix. * Exostoses are important for a variety of cellular processes, including cell migration, adhesion, and signaling. * They are also involved in the formation of the extracellular matrix. * EXT2 is a key regulator of these processes, and its overexpression has been linked to a number of diseases. **Clinical significance:** * EXT2 is a gene that is frequently mutated in humans. * Mutations in EXT2 have been linked to a number of diseases, including exostoses and cancer. * These diseases are characterized by the formation of soft, abnormal tissues that can lead to a variety of symptoms, including joint pain, swelling, and difficulty walking. **Additional information:** * EXT2 is a member of the EXT family of glycosyltransferases. * It is expressed in high levels in the brain, particularly in the cortex. * It is also expressed in the eyes, ears, nose, and throat. * EXT2 is a highly conserved protein, with similar genes found in other mammals.

Genular Protein ID: 1112176334

Symbol: EXT2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q93063 B2R5Z6 C9JU51 J3KPT2 O15288

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 2 CCDS 2 CORUM 1 CTD 1 ChEBI 31 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 24 EMDB 1 EPD 1 Ensembl 6 GO 33 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 16 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 3 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8782816

Title: The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.

PubMed ID: 8782816

DOI: 10.1038/ng0996-25

PubMed ID: 8894688

Title: Positional cloning of a gene involved in hereditary multiple exostoses.

PubMed ID: 8894688

DOI: 10.1093/hmg/5.10.1547

PubMed ID: 9110175

Title: The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.

PubMed ID: 9110175

DOI: 10.1101/gr.7.4.359

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 10679296

Title: Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.

PubMed ID: 10679296

DOI: 10.1006/bbrc.2000.2219

PubMed ID: 10545594

Title: A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.

PubMed ID: 10545594

DOI: 10.1093/hmg/8.12.2155

PubMed ID: 18337501

Title: Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.

PubMed ID: 18337501

DOI: 10.1073/pnas.0705807105

PubMed ID: 22660413

Title: Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.

PubMed ID: 22660413

DOI: 10.1038/ncb2502

PubMed ID: 35137078

Title: A dominant negative splice variant of the heparan sulfate biosynthesis enzyme NDST1 reduces heparan sulfate sulfation.

PubMed ID: 35137078

DOI: 10.1093/glycob/cwac004

PubMed ID: 36402845

Title: Structure of the human heparan sulfate polymerase complex EXT1-EXT2.

PubMed ID: 36402845

DOI: 10.1038/s41467-022-34882-6

PubMed ID: 36593275

Title: Structural basis for heparan sulfate co-polymerase action by the EXT1-2 complex.

PubMed ID: 36593275

DOI: 10.1038/s41589-022-01220-2

PubMed ID: 26246518

Title: Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

PubMed ID: 26246518

DOI: 10.1136/jmedgenet-2015-103279

PubMed ID: 9326317

Title: Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

PubMed ID: 9326317

DOI: 10.1086/515505

PubMed ID: 10480354

Title: Mutation analysis of hereditary multiple exostoses in the Chinese.

PubMed ID: 10480354

DOI: 10.1007/s004399900058

PubMed ID: 10429361

Title: Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

PubMed ID: 10429361

DOI: 10.1007/s100380050149

PubMed ID: 10738008

Title: An R223P mutation in EXT2 gene causes hereditary multiple exostoses.

PubMed ID: 10738008

DOI: 10.1002/(sici)1098-1004(200004)15:4<390::aid-humu35>3.0.co;2-e

PubMed ID: 11170095

Title: Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.

PubMed ID: 11170095

DOI: 10.1002/1096-8628(20010215)99:1<59::aid-ajmg1115>3.0.co;2-z

PubMed ID: 11169766

Title: Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

PubMed ID: 11169766

DOI: 10.1002/1097-0169(200102)48:2<149::aid-cm1005>3.0.co;2-3

PubMed ID: 11668521

Title: Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.

PubMed ID: 11668521

DOI: 10.1002/1097-0215(20011120)95:6<378::aid-ijc1067>3.0.co;2-f

PubMed ID: 11432960

Title: Genotype-phenotype correlation in hereditary multiple exostoses.

PubMed ID: 11432960

DOI: 10.1136/jmg.38.7.430

PubMed ID: 19344451

Title: New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

PubMed ID: 19344451

DOI: 10.1111/j.1469-1809.2009.00508.x

Sequence Information:

  • Length: 718
  • Mass: 82255
  • Checksum: 9048CD3A5B63C5CB
  • Sequence:
    • MCASVKYNIR GPALIPRMKT KHRIYYITLF SIVLLGLIAT GMFQFWPHSI ESSNDWNVEK 
RSIRDVPVVR LPADSPIPER GDLSCRMHTC FDVYRCGFNP KNKIKVYIYA LKKYVDDFGV 
SVSNTISREY NELLMAISDS DYYTDDINRA CLFVPSIDVL NQNTLRIKET AQAMAQLSRW 
DRGTNHLLFN MLPGGPPDYN TALDVPRDRA LLAGGGFSTW TYRQGYDVSI PVYSPLSAEV 
DLPEKGPGPR QYFLLSSQVG LHPEYREDLE ALQVKHGESV LVLDKCTNLS EGVLSVRKRC 
HKHQVFDYPQ VLQEATFCVV LRGARLGQAV LSDVLQAGCV PVVIADSYIL PFSEVLDWKR 
ASVVVPEEKM SDVYSILQSI PQRQIEEMQR QARWFWEAYF QSIKAIALAT LQIINDRIYP 
YAAISYEEWN DPPAVKWGSV SNPLFLPLIP PQSQGFTAIV LTYDRVESLF RVITEVSKVP 
SLSKLLVVWN NQNKNPPEDS LWPKIRVPLK VVRTAENKLS NRFFPYDEIE TEAVLAIDDD 
IIMLTSDELQ FGYEVWREFP DRLVGYPGRL HLWDHEMNKW KYESEWTNEV SMVLTGAAFY 
HKYFNYLYTY KMPGDIKNWV DAHMNCEDIA MNFLVANVTG KAVIKVTPRK KFKCPECTAI 
DGLSLDQTHM VERSECINKF ASVFGTMPLK VVEHRADPVL YKDDFPEKLK SFPNIGSL

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.