Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ext2. (This text reflects annotations as of Wednesday, January 23, 2013.)

---

Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

---

Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Ext2
  • performs the following molecular functions:
    • acetylglucosaminyltransferase activity ^[1]
    • glucuronosyltransferase activity ^[1]
    • protein homodimerization activity ^[1]
  • is located in the following cellular components:
    • endoplasmic reticulum ^[1]
    • Golgi apparatus ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ext2
  • participates in the following biological processes:
    • cell differentiation ^[2]
    • heparan sulfate proteoglycan biosynthetic process ^[2]
    • mesoderm formation ^[2]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Ext2
  • performs the following molecular functions:
    • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ^[1]
    • heparan sulfate N-acetylglucosaminyltransferase activity ^[1]
    • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity ^[1]
  • is located in the following cellular components:
    • endoplasmic reticulum membrane ^[1]
    • Golgi membrane ^[1]

---

Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Ext2:
  • participates in the following biological processes:
    • cellular polysaccharide biosynthetic process
    • glycosaminoglycan biosynthetic process
    • heparan sulfate proteoglycan biosynthetic process
    • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
    • ossification
  • performs the following molecular functions:
    • glucuronosyltransferase activity
    • protein heterodimerization activity
    • transferase activity, transferring glycosyl groups

---

Summary text based on GO annotations supported by structural data

• Ext2 encodes a protein or proteins that contain the following InterPro domains: Exostosin-like, EXTL2, alpha-1,4-N-acetylhexosaminyltransferase, indicating that the gene product:
  • performs the following molecular functions:
    • transferase activity, transferring hexosyl groups
  • is located in the following cellular components:
    • intrinsic to endoplasmic reticulum membrane
    • membrane

---

Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ext2 indicates that it:
  • performs the following molecular functions:
    • transferase activity
  • is located in the following cellular components:
    • integral to membrane
    • membrane

---

References

1. McCormick C et al. (2000) The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A, 97:668-73. (PubMed:10639137)
2. Stickens D et al. (2005) Mice deficient in Ext2 lack heparan sulfate and develop exostoses. Development, 132:5055-68. (PubMed:16236767)

---

---

Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

---