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Aliases for ADAMTSL4 Gene

Aliases for ADAMTSL4 Gene

  • ADAMTS-Like 4 2 3
  • Thrombospondin Repeat-Containing Protein 1 3 4
  • ADAMTSL-4 3 4
  • TSRC1 3 4
  • Thrombospondin Repeat Containing 1 2
  • ECTOL2 3

External Ids for ADAMTSL4 Gene

Previous HGNC Symbols for ADAMTSL4 Gene

  • TSRC1

Previous GeneCards Identifiers for ADAMTSL4 Gene

  • GC01P147336
  • GC01P148788
  • GC01P150522
  • GC01P121900

Summaries for ADAMTSL4 Gene

Entrez Gene Summary for ADAMTSL4 Gene

  • 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]

GeneCards Summary for ADAMTSL4 Gene

ADAMTSL4 (ADAMTS-Like 4) is a Protein Coding gene. Diseases associated with ADAMTSL4 include ectopia lentis, isolated, autosomal recessive and ectopia lentis et pupillae. Among its related pathways are Transport to the Golgi and subsequent modification and O-linked glycosylation. GO annotations related to this gene include peptidase activity and protease binding. An important paralog of this gene is ADAMTSL1.

UniProtKB/Swiss-Prot for ADAMTSL4 Gene

  • Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.

Gene Wiki entry for ADAMTSL4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTSL4 Gene

Genomics for ADAMTSL4 Gene

Regulatory Elements for ADAMTSL4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADAMTSL4 Gene

150,549,369 bp from pter
150,560,937 bp from pter
11,569 bases
Plus strand

Genomic View for ADAMTSL4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADAMTSL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTSL4 Gene

Proteins for ADAMTSL4 Gene

  • Protein details for ADAMTSL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ADAMTS-like protein 4
    Protein Accession:
    Secondary Accessions:
    • B2RTT0
    • F8WAD0
    • Q5T5F7
    • Q6IPM6
    • Q8N643
    • Q9HBS6

    Protein attributes for ADAMTSL4 Gene

    1074 amino acids
    Molecular mass:
    116545 Da
    Quaternary structure:
    • Interacts with CTSB. Interacts with FBN1.
    • Sequence=AAG17217.1; Type=Frameshift; Positions=719; Evidence={ECO:0000305};

    Alternative splice isoforms for ADAMTSL4 Gene


neXtProt entry for ADAMTSL4 Gene

Proteomics data for ADAMTSL4 Gene at MOPED

Post-translational modifications for ADAMTSL4 Gene

  • N-glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs. N- and C-glycosylations can also facilitate secretion (By similarity).
  • Glycosylation at Ser 107, Ser 181, Thr 260, Ser 304, Thr 319, Asn 490, and Asn 773
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTSL4 Gene

No data available for DME Specific Peptides for ADAMTSL4 Gene

Domains & Families for ADAMTSL4 Gene

Gene Families for ADAMTSL4 Gene

Protein Domains for ADAMTSL4 Gene

Suggested Antigen Peptide Sequences for ADAMTSL4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PLAC domain.
  • Contains 1 PLAC domain.
  • Contains 6 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTSL4: view

Function for ADAMTSL4 Gene

Molecular function for ADAMTSL4 Gene

UniProtKB/Swiss-Prot Function:
Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.

Gene Ontology (GO) - Molecular Function for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 16364318
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0008233 peptidase activity --
genes like me logo Genes that share ontologies with ADAMTSL4: view
genes like me logo Genes that share phenotypes with ADAMTSL4: view

Animal Model Products

miRNA for ADAMTSL4 Gene

miRTarBase miRNAs that target ADAMTSL4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTSL4 Gene

Localization for ADAMTSL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTSL4 Gene

Secreted, extracellular space, extracellular matrix. Note=Colocalizes with FMN1 microfibrils in the eye ECM.

Subcellular locations from

Jensen Localization Image for ADAMTSL4 Gene COMPARTMENTS Subcellular localization image for ADAMTSL4 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 2
extracellular 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005578 proteinaceous extracellular matrix --
GO:0005614 interstitial matrix IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with ADAMTSL4: view

Pathways & Interactions for ADAMTSL4 Gene

genes like me logo Genes that share pathways with ADAMTSL4: view

Gene Ontology (GO) - Biological Process for ADAMTSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation TAS --
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0036066 protein O-linked fucosylation TAS --
genes like me logo Genes that share ontologies with ADAMTSL4: view

No data available for SIGNOR curated interactions for ADAMTSL4 Gene

Drugs & Compounds for ADAMTSL4 Gene

No Compound Related Data Available

Transcripts for ADAMTSL4 Gene

Unigene Clusters for ADAMTSL4 Gene

ADAMTS-like 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL4 Gene

No ASD Table

Relevant External Links for ADAMTSL4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTSL4 Gene

mRNA expression in normal human tissues for ADAMTSL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADAMTSL4 Gene

This gene is overexpressed in Serum (49.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTSL4 Gene

SOURCE GeneReport for Unigene cluster for ADAMTSL4 Gene Hs.516243

mRNA Expression by UniProt/SwissProt for ADAMTSL4 Gene

Tissue specificity: Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin.
genes like me logo Genes that share expression patterns with ADAMTSL4: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ADAMTSL4 Gene

Orthologs for ADAMTSL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTSL4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ADAMTSL4 35
  • 86.62 (n)
  • 86.53 (a)
  • 86 (a)
(Canis familiaris)
Mammalia ADAMTSL4 35
  • 85.13 (n)
  • 82.97 (a)
  • 83 (a)
(Mus musculus)
Mammalia Adamtsl4 35
  • 82.3 (n)
  • 80.04 (a)
Adamtsl4 16
Adamtsl4 36
  • 79 (a)
(Pan troglodytes)
Mammalia ADAMTSL4 35
  • 99.32 (n)
  • 99.26 (a)
  • 97 (a)
(Rattus norvegicus)
Mammalia Adamtsl4 35
  • 82.44 (n)
  • 79.4 (a)
(Monodelphis domestica)
Mammalia ADAMTSL4 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 31 (a)
(Gallus gallus)
Aves -- 36
  • 25 (a)
(Anolis carolinensis)
Reptilia ADAMTSL4 36
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl4 35
  • 56.28 (n)
  • 53.37 (a)
(Danio rerio)
Actinopterygii LOC100333903 35
  • 56.71 (n)
  • 50.3 (a)
  • 37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6232 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
Species with no ortholog for ADAMTSL4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTSL4 Gene

Gene Tree for ADAMTSL4 (if available)
Gene Tree for ADAMTSL4 (if available)

Paralogs for ADAMTSL4 Gene

(3) SIMAP similar genes for ADAMTSL4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ADAMTSL4: view

Variants for ADAMTSL4 Gene

Sequence variations from dbSNP and Humsavar for ADAMTSL4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1553959 -- 150,560,316(-) TCTGT(C/T)ACCTG utr-variant-3-prime, nc-transcript-variant
rs112222688 -- 150,560,058(+) TCCCC(A/T)GATGA splice-acceptor-variant
rs113799188 -- 150,560,110(+) AGGCC(A/C)GGCTC synonymous-codon, reference, nc-transcript-variant
rs113813429 -- 150,560,261(+) CCACT(C/G)TGAAC utr-variant-3-prime, nc-transcript-variant
rs117403663 -- 150,560,322(+) ACAGA(A/G)GGTGG utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTSL4 Gene

Variant ID Type Subtype PubMed ID
nsv527379 CNV Loss 19592680

Variation tolerance for ADAMTSL4 Gene

Residual Variation Intolerance Score: 97.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.35; 76.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTSL4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTSL4 Gene

Disorders for ADAMTSL4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ADAMTSL4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ectopia lentis, isolated, autosomal recessive
  • ectopia lentis, isolated autosomal recessive
ectopia lentis et pupillae
  • ectopia lentis with ectopia of pupil
adamtsl4-related eye disorders
isolated ectopia lentis
  • ectopia lentis syndrome
- elite association


  • Ectopia lentis 2, isolated, autosomal recessive (ECTOL2) [MIM:225100]: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. {ECO:0000269 PubMed:19200529}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectopia lentis et pupillae (ECTOLP) [MIM:225200]: An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy. {ECO:0000269 PubMed:20702823}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADAMTSL4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ADAMTSL4: view

No data available for Genatlas for ADAMTSL4 Gene

Publications for ADAMTSL4 Gene

  1. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. (PMID: 12706885) Buchner D.A. … Meisler M.H. (Gene 2003) 2 23 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  3. Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. (PMID: 24802351) Zhou X.M. … Liu X.Y. (Acta Ophthalmol 2014) 67
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 67

Products for ADAMTSL4 Gene

Sources for ADAMTSL4 Gene

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