Human Gene EXT2 (ENST00000395673.8) from GENCODE V44
Description: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. (from UniProt Q93063) RefSeq Summary (NM_207122): This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000395673.8 Gencode Gene: ENSG00000151348.16 Transcript (Including UTRs) Position: hg38 chr11:44,095,678-44,247,174 Size: 151,497 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr11:44,107,713-44,244,287 Size: 136,575 Coding Exon Count: 13
ID:EXT2_HUMAN DESCRIPTION: RecName: Full=Exostosin-2; EC=2.4.1.224; EC=2.4.1.225; AltName: Full=Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; AltName: Full=Multiple exostoses protein 2; AltName: Full=Putative tumor suppressor protein EXT2; FUNCTION: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + beta-D- glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl- (1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan. CATALYTIC ACTIVITY: UDP-alpha-D-glucuronate + N-acetyl-alpha-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta- D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D- glucuronosyl-proteoglycan. PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus. TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in EXT2 are a cause of hereditary multiple exostoses type 2 (EXT2) [MIM:133701]. EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. DISEASE: Defects in EXT2 are a cause of Potocki-Shaffer syndrome (POSHS) [MIM:601224]. It is a contiguous gene syndrome due to proximal deletion of chromosome 11p11.2, including EXT2 and ALX4. SIMILARITY: Belongs to the glycosyltransferase 47 family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EXT2ID213.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EXT2"; WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF03016 - Exostosin family PF09258 - Glycosyl transferase family 64 domain
ModBase Predicted Comparative 3D Structure on Q93063
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
