Table of Contents - *602411
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Genome
DNA
Protein
Gene Info
Variation
Animal Models
Cellular Pathways
| *602411 | ||||||||||
| EXOSTOSIN-LIKE 2; EXTL2 | ||||||||||
| Alternative titles; symbols | ||||||||||
| MULTIPLE EXOSTOSES-LIKE 2 EXT-RELATED GENE 2; EXTR2 | ||||||||||
| HGNC Approved Gene Symbol: EXTL2 | ||||||||||
| Cytogenetic location: 1p21.2 Genomic coordinates (GRCh37): 1:101,337,940 - 101,360,417 (from NCBI) | ||||||||||
| TEXT | ||||||||||
| In patients with multiple exostoses (see 133700), mutations in 2 different genes have been found: EXT1 (608177) on 8q and EXT2 (608210) on 11p. In addition, linkage has demonstrated a third locus, EXT3 (600209), on 19p as the site of mutations causing multiple exostoses. The family of EXT genes was extended by the identification of an EXT-like gene (EXTL1; 601738) showing a high degree of homology with the EXT genes. Wuyts et al. (1997) described a second EXT-like gene, EXTL2, that is homologous to the EXT and EXTL genes. EXTL2 was found to consist of 5 exons encoding a ubiquitously expressed 330-amino acid protein. In addition, a putative pseudogene, EXTL2P, was identified. Saito et al. (1998) also cloned an EXTL2 cDNA, which they called EXTR2. By Northern blot analysis, they detected a 3.4-kb transcript in all tissues tested except leukocyte, where the gene was hardly transcribed. Its expression was relatively constant among tissues, but was weak in liver, lung, and thymus. By fluorescence in situ hybridization, Wuyts et al. (1997) mapped the EXTL2 gene to 1p12-p11 and the EXTL2 pseudogene to 2q24-q31. By somatic cell hybrid and radiation hybrid analyses, Saito et al. (1998) mapped the EXTL2 gene to chromosome 1p21. Wuyts and Van Hul (2000) cloned mouse Extl2, which has the same genomic structure as the human gene, encodes a protein identical in size, and has a sequence that is 87% identical to the human sequence. By radiation hybrid analysis, they mapped the mouse gene to chromosome 3. | ||||||||||
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