ADAMTSL5 (ADAMTS like 5)

2014-11-01  

Identity

HGNC
ADAMTSL5
LOCATION
19p13.3
LOCUSID
339366
ALIAS
THSD6

Other Information

Locus ID:

NCBI: 339366
HGNC: 27912
Ensembl: ENSG00000185761

Variants:

dbSNP: 339366
ClinVar: 339366
TCGA: ENSG00000185761
COSMIC: ADAMTSL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185761ENST00000330475X6R4H8
ENSG00000185761ENST00000395467Q0VD77
ENSG00000185761ENST00000585804A0A087X1N9
ENSG00000185761ENST00000586272A0A087WZI4
ENSG00000185761ENST00000590090K7ELV0
ENSG00000185761ENST00000590562A0A087WVY8

Expression (GTEx)

0
10
20
30
40
50
60
70
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
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

References

Pubmed IDYearTitleCitations
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3
282922142017ADAMTSL5 and CDH11: putative epigenetic markers for therapeutic resistance in acute lymphoblastic leukemia.3
230105712012A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module.0

Citation

Dessen P

ADAMTSL5 (ADAMTS like 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60147/adamtsl5