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
186773132008ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.69
214150772011Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.8
297582652019Interactions between lysyl oxidases and ADAMTS proteins suggest a novel crosstalk between two extracellular matrix families.6
307388492019Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.4
240140902013Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.1
289178292017A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.1
268793702016Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.0
284478572017CpG-specific methylation at rheumatoid arthritis diagnosis as a marker of treatment response.0

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)