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
350426842023Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.5
350426842023Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.5
362080992022Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.0
362080992022Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.0
283946492017ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.3
283946492017ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.3
266537942016A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.6
266537942016A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.6
248023512015Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.4
259753592015ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.9
248023512015Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.4
259753592015ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.9
228711832013Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.5
234267352013Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.8
238468712013Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina.10

Citation

Dessen P

ADAMTSL4 (ADAMTS like 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60145/favicon/meetings/img/logo-atlas-4.svg