EXTL3 (exostosin like glycosyltransferase 3)

2003-02-01  

Identity

HGNC
EXTL3
LOCATION
8p21.1
LOCUSID
2137
ALIAS
BOTV,EXTL1L,EXTR1,ISDNA,REGR,RPR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2137
MIM: 605744
HGNC: 3518
Ensembl: ENSG00000012232

Variants:

dbSNP: 2137
ClinVar: 2137
TCGA: ENSG00000012232
COSMIC: EXTL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000012232ENST00000220562O43909
ENSG00000012232ENST00000220562A0A384NPY9
ENSG00000012232ENST00000517738E5RIV6
ENSG00000012232ENST00000521473H0YBJ7
ENSG00000012232ENST00000521532E5RK02
ENSG00000012232ENST00000522698H0YB01
ENSG00000012232ENST00000523149E7ET85

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGko00534
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGhsa00534
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, heparan sulfate backboneKEGGhsa_M00059
Glycosaminoglycan biosynthesis, heparan sulfate backboneKEGGM00059
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
361817932022Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.3
361817932022Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.3
340892992021Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.4
340998622021REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.8
340892992021Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.4
340998622021REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.8
314673152019EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells.1
314673152019EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells.1
293467242018Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure.5
293467242018Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure.5
281326902017Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.31
281486882017EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.39
283312202017Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.19
284467992017Expanding 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
281326902017Mutations 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