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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]
ADAMTSL4 (ADAMTS Like 4) is a Protein Coding gene. Diseases associated with ADAMTSL4 include Ectopia Lentis Et Pupillae and Ectopia Lentis 2, Isolated, Autosomal Recessive. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and protease binding. An important paralog of this gene is THSD4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 16364318 |
GO:0004222 | metalloendopeptidase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008233 | peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005614 | interstitial matrix | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0031012 | extracellular matrix | IEA,IBA | 21873635 |
GO:0062023 | colocalizes_with collagen-containing extracellular matrix | HDA | 28327460 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | O-glycosylation of TSR domain-containing proteins | ||
2 | Diseases of glycosylation | ||
3 | Metabolism of proteins | ||
4 | HIV Life Cycle |
.45
|
|
5 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002064 | epithelial cell development | IEA | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0030198 | extracellular matrix organization | IEA | -- |
GO:0043065 | positive regulation of apoptotic process | IDA | 16364318 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADAMTSL4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ADAMTSL4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADAMTSL4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Adamtsl4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Adamtsl4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ADAMTSL4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | ADAMTSL4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adamtsl4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100333903 30 |
|
||
ADAMTSL4 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6232 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691918 | Uncertain Significance: Craniosynostosis | 150,556,710(+) | C/T | NONSENSE | |
717808 | Benign: Ectopia lentis 2, isolated, autosomal recessive; not provided | 150,553,794(+) | C/T | MISSENSE_VARIANT | |
724482 | Conflicting Interpretations: Ectopia lentis 2, isolated, autosomal recessive; not provided | 150,557,328(+) | C/T | SYNONYMOUS_VARIANT | |
725797 | Benign: not provided | 150,555,502(+) | G/A | SYNONYMOUS_VARIANT | |
728991 | Benign: not provided | 150,553,613(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1006838 | CNV | gain | 25217958 |
nsv1144403 | CNV | deletion | 24896259 |
nsv527379 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ectopia lentis et pupillae |
|
|
ectopia lentis 2, isolated, autosomal recessive |
|
|
isolated ectopia lentis |
|
|
craniosynostosis with ectopia lentis |
|
|
retinal detachment |
|
|