ADAMTSL2 (ADAMTS like 2)

2010-11-01  

Identity

HGNC
LOCATION
9q34.2
LOCUSID
ALIAS
ADAMTSL-2,GPHYSD1
FUSION GENES

Other Information

Locus ID:

NCBI: 9719
MIM: 612277
HGNC: 14631
Ensembl: ENSG00000197859

Variants:

dbSNP: 9719
ClinVar: 9719
TCGA: ENSG00000197859
COSMIC: ADAMTSL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197859ENST00000354484Q86TH1
ENSG00000197859ENST00000393060Q86TH1
ENSG00000197859ENST00000393061B1B0D4
ENSG00000197859ENST00000651351Q86TH1

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
368966122023Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.4
371874482023Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.2
368966122023Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.4
371874482023Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.2
346009732022ADAMTSL2 protein and a soluble biomarker signature identify at-risk non-alcoholic steatohepatitis and fibrosis in adults with NAFLD.17
349365472022The relationship of ADAMTSL2 and LRPAP1 gene methylation level with rheumatoid arthritis activity.1
349588662022Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.3
346009732022ADAMTSL2 protein and a soluble biomarker signature identify at-risk non-alcoholic steatohepatitis and fibrosis in adults with NAFLD.17
349365472022The relationship of ADAMTSL2 and LRPAP1 gene methylation level with rheumatoid arthritis activity.1
349588662022Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.3
333691942021ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.5
346111832021The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFβ signalling in cardiac fibroblasts.14
333691942021ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.5
346111832021The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFβ signalling in cardiac fibroblasts.14
297582652019Interactions between lysyl oxidases and ADAMTS proteins suggest a novel crosstalk between two extracellular matrix families.11

Citation

Dessen P

ADAMTSL2 (ADAMTS like 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/51754/adamtsl2-(adamts-like-2)