Exostosin Glycosyltransferase 2

Alternative Names

EXT2
Exostosin 2

Length

156,433 bases

No. of Exons

No. of isoforms

Protein Name

Exostosin-2

Molecular Mass

82255 Da

Amino Acid Count

718

Genomic Location

chr11:44,095,549-44,251,981

Gene Map Locus

11p11.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000401.3:c.110C>T	Syria	chr11:44107723	Likely Benign, Likely Pathogenic	Likely Pathogenic	Seizures, Scoliosis, and Macrocephaly/Microcephaly Syndrome	NG_007560.1:g.17175C>T; NM_000401.3:c.110C>T; NP_000392.3:p.Ser37Leu	527624522	304572
NM_000401.3:c.1762-500G>C	Lebanon	NC_000011.10:g.44231853G>C	Benign	Benign	Type 2 Diabetes Mellitus	NG_007560.1:g.141305G>C; NM_000401.3:c.1762-500G>C	1113132	263288
NM_000401.3:c.1906-51T>C	Lebanon	NC_000011.10:g.44234064T>C	Benign	Benign	Type 2 Diabetes Mellitus	NG_007560.1:g.143516T>C; NM_000401.3:c.1906-51T>C; NP_000392.3:p.?	11037909	1166104
NM_000401.3:c.2035-41T>C	Lebanon	NC_000011.10:g.44236252T>C	Benign	Benign	Type 2 Diabetes Mellitus	NG_007560.1:g.145704T>C; NM_000401.3:c.2035-41T>C	3740878	263290

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External Links

https://ghr.nlm.nih.gov/gene/EXT2 https://medlineplus.gov/genetics/gene/ext2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2 https://www.ncbi.nlm.nih.gov/gene?term=2132

Contributors

Pratibha Nair: 16.03.2021
Pratibha Nair: 27.05.2020
Pratibha Nair: 23.04.2020

Edit History

Pratibha Nair: 16.03.2021
Pratibha Nair: 28.05.2020
Pratibha Nair: 27.05.2020
Pratibha Nair: 23.04.2020

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