SynDB Home Page
SynDB Home Page
Browse
Search
Download
Help
People
links

blue bulletSynDB protein details  


Parse error: syntax error, unexpected T_VARIABLE in /home/kongl/syndb/www/sdb_nats.php on line 52
0EXT2_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameEXT2
DescriptionExostosin-2 (ec 2.4.1.224) (ec 2.4.1.225) (glucuronosyl-n- acetylglucosaminyl-proteoglycan/n-acetylglucosaminyl-proteoglycan 4- alpha-n-acetylglucosaminyltransferase) (putative tumor suppressor protein ext2) (multiple exostoses protein 2).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005789 endoplasmic reticulum membrane (TAS)
0005794 Golgi apparatus (TAS)
0006024 glycosaminoglycan biosynthesis (TAS)
0007165 signal transduction (TAS)
0001501 skeletal development (TAS)

Warning: fopen(/home/kongl/syndb/www/temp/81486413.dot) [function.fopen]: failed to open stream: Permission denied in /home/kongl/syndb/www/sdb_pro.php on line 269

Warning: fwrite(): supplied argument is not a valid stream resource in /home/kongl/syndb/www/sdb_pro.php on line 270

Warning: fwrite(): supplied argument is not a valid stream resource in /home/kongl/syndb/www/sdb_pro.php on line 271

Warning: fwrite(): supplied argument is not a valid stream resource in /home/kongl/syndb/www/sdb_pro.php on line 272

Warning: fwrite(): supplied argument is not a valid stream resource in /home/kongl/syndb/www/sdb_pro.php on line 273

Warning: fwrite(): supplied argument is not a valid stream resource in /home/kongl/syndb/www/sdb_pro.php on line 274

Warning: fwrite(): supplied argument is not a valid stream resource in /home/kongl/syndb/www/sdb_pro.php on line 299

Warning: fclose(): supplied argument is not a valid stream resource in /home/kongl/syndb/www/sdb_pro.php on line 300
schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder that is characterized by the appearance of multiple outgrowths of the long bones (exostoses) at their epiphyses . Mutations in two homologous genes.XT1 and EXT2.re responsible for the EXT syndrome. The human and mouse EXT genes have at least two homologs in the invertebrate Caenorhabditis elegans.ndicating that they do not function exclusively as regulators of bone growth. EXT1 and EXT2 have both been shown to encode glycosyltransferases involved in the chain elongation step of heparan sulphate biosynthesis .
  IPR004263:Exostosin-like
IPR004263:Exostosin 
Evalue:-33.2757225036621 
Location:106-392
SequencesProtein: EXT2_HUMAN (718 aa)
mRNA: NM_000401
Local Annotation
Synapse Ontology
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
KO assignmentK02367
  Level 3 annotation:
    glucuronyl/N-acetylglucosaminyl transferase EXT2
  Level 2 annotation:
    Heparan sulfate biosynthesis
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 102 residues, 44073674-44073978Exon2: 34 residues, 44074350-44074447Exon3: 20 residues, 44081815-44081871Exon4: 190 residues, 44085808-44086374Exon5: 32 residues, 44087319-44087409Exon6: 41 residues, 44092310-44092427Exon7: 67 residues, 44102914-44103110Exon8: 48 residues, 44104941-44105081Exon9: 33 residues, 44108170-44108264Exon10: 46 residues, 44149736-44149868Exon11: 65 residues, 44175954-44176144Exon12: 57 residues, 44184918-44185085Exon13: 50 residues, 44210478-44210622Exon14: 45 residues, 44212240-44212369Exon15: 29 residues, 44214418-44214501Exon16: 429 residues, 44222274-44223555Exon17: 2 residues, -Jump to EXT2_HUMAN  
Tune and view alternative isoforms