Identity
HGNC
LOCATION
8p21.1
LOCUSID
ALIAS
BOTV,EXTL1L,EXTR1,ISDNA,REGR,RPR
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2137
MIM: 605744
HGNC: 3518
Ensembl: ENSG00000012232
Variants:
dbSNP: 2137
ClinVar: 2137
TCGA: ENSG00000012232
COSMIC: EXTL3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36181793 | 2022 | Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion. | 3 |
| 36181793 | 2022 | Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion. | 3 |
| 34089299 | 2021 | Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature. | 4 |
| 34099862 | 2021 | REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway. | 8 |
| 34089299 | 2021 | Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature. | 4 |
| 34099862 | 2021 | REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway. | 8 |
| 31467315 | 2019 | EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells. | 1 |
| 31467315 | 2019 | EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells. | 1 |
| 29346724 | 2018 | Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure. | 5 |
| 29346724 | 2018 | Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure. | 5 |
| 28132690 | 2017 | Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. | 31 |
| 28148688 | 2017 | EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. | 39 |
| 28331220 | 2017 | Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. | 19 |
| 28446799 | 2017 | Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. | 3 |
| 28132690 | 2017 | Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. | 31 |
Citation
Dessen P
EXTL3 (exostosin like glycosyltransferase 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/40516/extl3-(exostosin-like-glycosyltransferase-3)
