ADAMTSL4 Chromosome 1
ADAMTS like 4
Upload your DNA to see your personal genotypes for variants in ADAMTSL4.
What This Gene Does
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
"ADAMTS like|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000143382
Associated Conditions (21)
ADAMTSL4-related disorder
Ectopia lentis 2
isolated
autosomal recessive
Ectopia lentis et pupillae
Inborn genetic diseases
Malignant tumor of urinary bladder
Uterine corpus endometrial carcinoma
Malignant tumor of esophagus
Colorectal cancer
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Acute myeloid leukemia
Lung cancer
Craniosynostosis syndrome
Craniosynostosis with ectopia lentis
See cases
Ectopia lentis
+1 more conditions
Key Variants
RS112045022
Conflicting classifications of pathogenicity
ADAMTSL4-related disorder, ADAMTSL4-related disorder
Health Risk
RS12049100
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS139006349
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS139784416
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS139990606
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS140005044
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS140825395
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS144635712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ectopia lentis 2, isolated
Health Risk
RS145639662
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS145673891
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
RS147256635
Conflicting classifications of pathogenicity
ADAMTSL4-related disorder, Inborn genetic diseases, ADAMTSL4-related disorder
Health Risk
RS148110558
Conflicting classifications of pathogenicity
Ectopia lentis 2, isolated, autosomal recessive
Health Risk
All Variants (172)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763535661 | Health Risk | Pathogenic | Ectopia lentis 2, isolated, autosomal recessive |
| RS768099905 | Health Risk | Pathogenic | — |
| RS771036273 | Health Risk | Pathogenic | — |
| RS771243690 | Health Risk | Pathogenic | — |
| RS771318271 | Health Risk | Pathogenic | — |
| RS773569215 | Health Risk | Pathogenic | — |
| RS778345588 | Health Risk | Pathogenic | — |
| RS781144356 | Health Risk | Pathogenic | — |
| RS781497103 | Health Risk | Pathogenic | — |
| RS794726688 | Health Risk | Pathogenic | Ectopia lentis 2, isolated, autosomal recessive |
| RS794726689 | Health Risk | Pathogenic | Ectopia lentis 2, isolated, autosomal recessive |
| RS964738575 | Health Risk | Pathogenic | — |
| RS1461665171 | Health Risk | Pathogenic/Likely pathogenic | Ectopia lentis et pupillae, See cases, Ectopia lentis 2 |
| RS1471582038 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2526788248 | Health Risk | Pathogenic/Likely pathogenic | Ectopia lentis et pupillae, Ectopia lentis 2, isolated |
| RS368482584 | Health Risk | Pathogenic/Likely pathogenic | Ectopia lentis 2, isolated, autosomal recessive |
| RS747160538 | Health Risk | Pathogenic/Likely pathogenic | Ectopia lentis et pupillae, Ectopia lentis 2, isolated |
| RS754125407 | Health Risk | Pathogenic/Likely pathogenic | Isolated ectopia lentis, Isolated ectopia lentis |
| RS757032537 | Health Risk | Pathogenic/Likely pathogenic | Ectopia lentis 2, isolated, autosomal recessive |
| RS757198328 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS768395332 | Health Risk | Pathogenic/Likely pathogenic | Ectopia lentis et pupillae, Ectopia lentis et pupillae |
| RS781691587 | Health Risk | Pathogenic/Likely pathogenic | Ectopia lentis et pupillae, Ectopia lentis 2, isolated |