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Aliases for ADAMTSL3 Gene

Aliases for ADAMTSL3 Gene

  • ADAMTS Like 3 2 3 5
  • Punctin-2 3 4
  • ADAMTSL-3 3 4
  • A Disintegrin-Like And Metalloprotease Domain With Thrombospondin Type I Motifs-Like 3 3
  • ADAMTS-Like Protein 3 3
  • KIAA1233 4

External Ids for ADAMTSL3 Gene

Previous GeneCards Identifiers for ADAMTSL3 Gene

  • GC15P082043
  • GC15P082113
  • GC15P084322
  • GC15P060587

Summaries for ADAMTSL3 Gene

GeneCards Summary for ADAMTSL3 Gene

ADAMTSL3 (ADAMTS Like 3) is a Protein Coding gene. Diseases associated with ADAMTSL3 include Peters-Plus Syndrome. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTSL1.

Additional gene information for ADAMTSL3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTSL3 Gene

Genomics for ADAMTSL3 Gene

GeneHancer (GH) Regulatory Elements for ADAMTSL3 Gene

Promoters and enhancers for ADAMTSL3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J083653 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 654.8 +0.4 400 1.8 CTCF ZNF768 YY1 E2F1 ZNF335 EGR1 EZH2 ZBTB20 ZBTB10 L3MBTL2 ADAMTSL3 RN7SL331P GOLGA6L4 LINC00933 GC15P083701
GH15J083626 Promoter 0.6 EPDnew 650.3 -27.7 -27733 0.1 FOSL1 ADAMTSL3 GC15M083612
GH15J083654 Enhancer 0.5 ENCODE 650.7 -0.7 -722 0.2 ZNF335 SCRT2 ZFX ZBTB20 ADAMTSL3 GC15M083612
GH15J083554 Enhancer 0.8 dbSUPER 6.1 -96.2 -96152 6 RB1 ARNT ZNF2 RAD21 RFX5 ARID2 ZNF143 ATF7 CREM SMARCA5 ADAMTSL3 GOLGA6L5P RN7SL331P GOLGA2P7 GC15P083560 GC15P083548 SH3GL3
GH15J083692 Enhancer 0.7 Ensembl ENCODE 6.5 +40.0 40003 2.7 SP1 ESRRA NONO ZNF207 HNF4A HES1 SPI1 SCAND2P WDR73 WHAMM GOLGA6L4 RNU6-401P UBE2Q2P1 GOLGA6L5P C15orf40 GOLGA2P7 ADAMTSL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAMTSL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTSL3 gene promoter:
  • Nkx2-5
  • Sp1
  • AhR
  • GR-alpha
  • GR
  • C/EBPalpha
  • Egr-4
  • LCR-F1
  • FOXI1
  • HFH-3

Genomic Locations for ADAMTSL3 Gene

Genomic Locations for ADAMTSL3 Gene
385,757 bases
Plus strand
385,757 bases
Plus strand

Genomic View for ADAMTSL3 Gene

Genes around ADAMTSL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTSL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTSL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTSL3 Gene

Proteins for ADAMTSL3 Gene

  • Protein details for ADAMTSL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ADAMTS-like protein 3
    Protein Accession:
    Secondary Accessions:
    • A1A566
    • A1A567
    • Q9ULI7

    Protein attributes for ADAMTSL3 Gene

    1691 amino acids
    Molecular mass:
    188692 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTSL3 Gene


neXtProt entry for ADAMTSL3 Gene

Post-translational modifications for ADAMTSL3 Gene

  • Glycosylated (By similarity). 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, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • Glycosylation at Asn1591, Asn1574, posLast=15161516, posLast=14321432, Asn1356, Asn1349, Asn1343, Asn1330, posLast=13161316, Asn1292, Asn1191, posLast=11021102, posLast=927927, posLast=915915, Asn797, posLast=681681, and posLast=293293
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADAMTSL3 Gene

Domains & Families for ADAMTSL3 Gene

Suggested Antigen Peptide Sequences for ADAMTSL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ADAMTSL3: view

No data available for UniProtKB/Swiss-Prot for ADAMTSL3 Gene

Function for ADAMTSL3 Gene

Phenotypes From GWAS Catalog for ADAMTSL3 Gene

Gene Ontology (GO) - Molecular Function for ADAMTSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ADAMTSL3: view
genes like me logo Genes that share phenotypes with ADAMTSL3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTSL3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ADAMTSL3 Gene

Localization for ADAMTSL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTSL3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTSL3 gene
Compartment Confidence
extracellular 4
plasma membrane 3
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADAMTSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ADAMTSL3: view

Pathways & Interactions for ADAMTSL3 Gene

genes like me logo Genes that share pathways with ADAMTSL3: view

Gene Ontology (GO) - Biological Process for ADAMTSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ADAMTSL3: view

No data available for SIGNOR curated interactions for ADAMTSL3 Gene

Drugs & Compounds for ADAMTSL3 Gene

No Compound Related Data Available

Transcripts for ADAMTSL3 Gene

Unigene Clusters for ADAMTSL3 Gene

ADAMTS-like 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL3 Gene

No ASD Table

Relevant External Links for ADAMTSL3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTSL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTSL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTSL3 Gene

This gene is overexpressed in Artery - Aorta (x6.3) and Artery - Tibial (x4.3).

Protein differential expression in normal tissues from HIPED for ADAMTSL3 Gene

This gene is overexpressed in Adipocyte (36.6), Colon (18.7), and Spinal cord (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTSL3 Gene

Protein tissue co-expression partners for ADAMTSL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTSL3 Gene:


SOURCE GeneReport for Unigene cluster for ADAMTSL3 Gene:


mRNA Expression by UniProt/SwissProt for ADAMTSL3 Gene:

Tissue specificity: Expressed in epithelial cells of the colon, fallopian tube, skin, breast, prostate, epididymis, liver, pancreatic islets and bile ducts, as well as by vascular endothelial cells, smooth muscle cells, fibroblasts, cortical and ganglionic neurons and cardiac myocytes. Also expressed by malignant epithelial cells in colon cancer, as well as breast, prostate, renal and skin tumors. Expression is significantly reduced in colon cancer compared to normal colon.

Evidence on tissue expression from TISSUES for ADAMTSL3 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ADAMTSL3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTSL3 Gene

Orthologs for ADAMTSL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTSL3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADAMTSL3 34 33
  • 99.21 (n)
(Bos Taurus)
Mammalia ADAMTSL3 34 33
  • 88.95 (n)
(Canis familiaris)
Mammalia ADAMTSL3 34 33
  • 87.41 (n)
(Rattus norvegicus)
Mammalia Adamtsl3 33
  • 84.37 (n)
(Mus musculus)
Mammalia Adamtsl3 16 34 33
  • 83.93 (n)
(Monodelphis domestica)
Mammalia ADAMTSL3 34
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 31 (a)
-- 34
  • 22 (a)
(Gallus gallus)
Aves ADAMTSL3 34 33
  • 68 (n)
(Anolis carolinensis)
Reptilia ADAMTSL3 34
  • 59 (a)
(Danio rerio)
Actinopterygii adamtsl3 33
  • 56.64 (n)
  • 49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31619 34
  • 27 (a)
(Caenorhabditis elegans)
Secernentea T19D2.1 34
  • 11 (a)
Species where no ortholog for ADAMTSL3 was found in the sources mined by GeneCards:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADAMTSL3 Gene

Gene Tree for ADAMTSL3 (if available)
Gene Tree for ADAMTSL3 (if available)
Evolutionary constrained regions (ECRs) for ADAMTSL3: view image

Paralogs for ADAMTSL3 Gene

(1) SIMAP similar genes for ADAMTSL3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ADAMTSL3: view

Variants for ADAMTSL3 Gene

Sequence variations from dbSNP and Humsavar for ADAMTSL3 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs142860011 A colorectal cancer sample 83,913,151(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs146769560 A colorectal cancer sample 83,970,556(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_035809 A colorectal cancer sample p.Val330Met
VAR_035812 A colorectal cancer sample p.Ala1315Glu
rs1000009228 -- 83,730,712(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTSL3 Gene

Variant ID Type Subtype PubMed ID
nsv570284 CNV gain 21841781
nsv833072 CNV gain 17160897
nsv833073 CNV loss 17160897
nsv833074 CNV gain 17160897
nsv833075 CNV gain 17160897
nsv9289 CNV loss 18304495
nsv570268 CNV loss 21841781
nsv570261 CNV loss 21841781
nsv570260 CNV loss 21841781
nsv570259 CNV loss 21841781
nsv524815 CNV loss 19592680
nsv514787 CNV loss 21397061
nsv513435 CNV insertion 21212237
nsv498854 CNV loss 21111241
nsv476102 CNV novel sequence insertion 20440878
nsv457220 CNV gain 19166990
nsv442707 CNV loss 18776908
nsv1160316 CNV deletion 26073780
nsv1160315 CNV deletion 26073780
nsv1160314 CNV duplication 26073780
nsv1122988 CNV deletion 24896259
nsv1122987 CNV deletion 24896259
nsv1120312 CNV tandem duplication 24896259
nsv1120052 OTHER inversion 24896259
nsv1118331 CNV deletion 24896259
esv3892718 CNV loss 25118596
esv3637085 CNV loss 21293372
esv3637084 CNV loss 21293372
esv3637081 CNV loss 21293372
esv3637080 CNV loss 21293372
esv3637079 CNV loss 21293372
esv3637078 CNV loss 21293372
esv3584696 CNV loss 24956385
esv3552776 CNV deletion 23714750
esv3398261 CNV insertion 20981092
esv2763115 CNV gain 21179565
esv2760047 CNV loss 17122850
esv2749964 CNV deletion 23290073
esv2675330 CNV deletion 23128226
esv2670578 CNV deletion 23128226
esv2664036 CNV deletion 23128226
esv2659307 CNV deletion 23128226
esv2623099 CNV insertion 19546169
esv25908 CNV loss 19812545
esv2474245 CNV deletion 19546169
esv2421901 CNV deletion 20811451
esv2421820 CNV deletion 20811451
esv21721 CNV loss 19812545
esv1949100 CNV deletion 18987734
dgv4688n54 CNV loss 21841781
dgv4687n54 CNV loss 21841781
dgv4686n54 CNV loss 21841781
dgv4685n54 CNV loss 21841781
dgv4684n54 CNV loss 21841781
dgv444n67 CNV loss 20364138

Variation tolerance for ADAMTSL3 Gene

Residual Variation Intolerance Score: 76.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.50; 96.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTSL3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTSL3 Gene

Disorders for ADAMTSL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADAMTSL3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
peters-plus syndrome
  • krause-kivlin syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTSL3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAMTSL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTSL3 Gene

Publications for ADAMTSL3 Gene

  1. ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer. (PMID: 17597111) Koo BH … Apte SS (International journal of cancer 2007) 3 4 22 58
  2. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases. (PMID: 14667842) Hall NG … Apte SS (Matrix biology : journal of the International Society for Matrix Biology 2003) 3 4 22 58
  3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A … Haiman CA (PLoS genetics 2011) 3 44 58
  5. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PMID: 20189936) Okada Y … Kamatani N (Human molecular genetics 2010) 3 44 58

Products for ADAMTSL3 Gene

Sources for ADAMTSL3 Gene

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