ADAMTSL3 (ADAMTS like 3)

2007-04-01  

Identity

HGNC
LOCATION
15q25.2
LOCUSID
ALIAS
ADAMTSL-3
FUSION GENES

Other Information

Locus ID:

NCBI: 57188
MIM: 609199
HGNC: 14633
Ensembl: ENSG00000156218

Variants:

dbSNP: 57188
ClinVar: 57188
TCGA: ENSG00000156218
COSMIC: ADAMTSL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156218ENST00000286744P82987
ENSG00000156218ENST00000567476P82987

Expression (GTEx)

0
5
10
15
20
25
30
35
40

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
183919522008Genome-wide association analysis identifies 20 loci that influence adult height.322
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
203977482010Genome-wide association study of height and body mass index in Australian twin families.30
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
146678422003ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases.17
212391442011ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation.11
175971112007ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer.9
247933372014Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.4
291625152018Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3.2
322665372020Genome-wide CRISPR knockout screens identify ADAMTSL3 and PTEN genes as suppressors of HCC proliferation and metastasis, respectively.1

Citation

Dessen P

ADAMTSL3 (ADAMTS like 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47149/adamtsl3