Identity
HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
ADAMTSL-4,ECTOL2,TSRC1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54507
MIM: 610113
HGNC: 19706
Ensembl: ENSG00000143382
Variants:
dbSNP: 54507
ClinVar: 54507
TCGA: ENSG00000143382
COSMIC: ADAMTSL4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000143382 | ENST00000271643 | Q6UY14 |
| ENSG00000143382 | ENST00000369038 | Q6UY14 |
| ENSG00000143382 | ENST00000369039 | Q6UY14 |
| ENSG00000143382 | ENST00000369041 | Q6UY14 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35042684 | 2023 | Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis. | 5 |
| 35042684 | 2023 | Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis. | 5 |
| 36208099 | 2022 | Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships. | 0 |
| 36208099 | 2022 | Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships. | 0 |
| 28394649 | 2017 | ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. | 3 |
| 28394649 | 2017 | ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. | 3 |
| 26653794 | 2016 | A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. | 6 |
| 26653794 | 2016 | A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. | 6 |
| 24802351 | 2015 | Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. | 4 |
| 25975359 | 2015 | ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. | 9 |
| 24802351 | 2015 | Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. | 4 |
| 25975359 | 2015 | ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. | 9 |
| 22871183 | 2013 | Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. | 5 |
| 23426735 | 2013 | Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene. | 8 |
| 23846871 | 2013 | Gene 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/adamtsl4-(adamts-like-4)
