ADAMTSL4 (ADAMTS like 4)

2014-11-01  

Identity

HGNC
ADAMTSL4
LOCATION
1q21.2
LOCUSID
54507
ALIAS
ADAMTSL-4,ECTOL2,TSRC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54507
MIM: 610113
HGNC: 19706
Ensembl: ENSG00000143382

Variants:

dbSNP: 54507
ClinVar: 54507
TCGA: ENSG00000143382
COSMIC: ADAMTSL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143382ENST00000271643Q6UY14
ENSG00000143382ENST00000369038Q6UY14
ENSG00000143382ENST00000369039Q6UY14
ENSG00000143382ENST00000369041Q6UY14

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
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
192005292009A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.48
219897192012ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.28
207028232010A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.17
227366152012A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.13
205644692010Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.12
201413592010Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.11
210517222011A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.6
234267352013Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.5
238468712013Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina.5
259753592015ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.5

Citation

Dessen P

ADAMTSL4 (ADAMTS like 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60145/adamtsl4