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
107538612000Identification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor.34
196905832010Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.14
281486882017<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay.13
191580462008Discovery of a human peptide sequence signaling islet neogenesis.12
281326902017Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.12
221586122012Regenerating islet-derived 1α (Reg-1α) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.9
185432672008EXTL3 promoter methylation down-regulates EXTL3 and heparan sulphate expression in mucinous colorectal cancers.8
283312202017Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.7
258294972015Reduced Expression of EXTL2, a Member of the Exostosin (EXT) Family of Glycosyltransferases, in Human Embryonic Kidney 293 Cells Results in Longer Heparan Sulfate Chains.4
196532412009Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background?0

Citation

Dessen P

EXTL3 (exostosin like glycosyltransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40516/extl3