Aliases for ADAMTSL3 Gene

Aliases for ADAMTSL3 Gene

  • ADAMTS Like 3 2 3 5
  • Punctin-2 2 3 4
  • ADAMTS-Like Protein 3 3 4
  • ADAMTSL-3 3 4
  • KIAA1233 2 4
  • A Disintegrin-Like And Metalloprotease Domain With Thrombospondin Type I Motifs-Like 3 3
  • ADAMTSL3 5

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 and Geleophysic Dysplasia. 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 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTSL3 Gene

Genomics for ADAMTSL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH15J083654 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 604.7 +0.3 313 2.4 KDM1A EZH2 SCRT2 ZFX ZBTB20 RAD21 ZBTB10 YY1 ZBTB26 POLR2A ADAMTSL3 HSALNG0107757 RN7SL331P GOLGA6L4 LINC00933 piR-35672-020
GH15J083626 Promoter 0.5 EPDnew 600.3 -27.7 -27735 0.1 FOSL1 TRIM28 lnc-SH3GL3-1 ADAMTSL3 piR-38351-175 SH3GL3
GH15J083692 Promoter/Enhancer 0.8 Ensembl ENCODE 6.5 +40.0 40001 2.7 HES1 ZNF207 NONO HNF4A ESRRA JUND SP1 RNU6-401P GOLGA2P7 ADAMTSL3 CSPG4P11 GOLGA6L4 piR-35672-020
GH15J083732 Enhancer 0.8 Ensembl ENCODE 6.2 +80.1 80138 3.5 CREB1 CTCF POLR2A RAD21 RFX1 ESR1 CTBP1 MAFF SMC3 ZNF217 CSPG4P11 GOLGA2P7 ADAMTSL3 GOLGA6L4 FSD2 TUBAP4 lnc-SH3GL3-3 RF00026-370 RNU6-401P
GH15J083698 Enhancer 0.7 Ensembl ENCODE 6.3 +44.4 44413 0.6 ATF3 JUND NR2F2 FOSL2 HNF4A MAX FOS ADAMTSL3 piR-35672-020 GOLGA6L4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTSL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTSL3

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

Genomic Locations for ADAMTSL3 Gene

Genomic Locations for ADAMTSL3 Gene
385,755 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 Asn293, Asn681, Asn797, Asn915, Asn927, Asn1102, Asn1191, Asn1292, Asn1316, Asn1330, Asn1343, Asn1349, Asn1356, Asn1432, Asn1516, Asn1574, and Asn1591
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADAMTSL3 Gene

Domains & Families for ADAMTSL3 Gene

Gene Families for ADAMTSL3 Gene

Protein Domains for ADAMTSL3 Gene

  • Immunoglobulin C-2 type
  • Immunoglobulin I-set

Suggested Antigen Peptide Sequences for ADAMTSL3 Gene

GenScript: Design optimal peptide antigens:
  • Punctin-2 (ATL3_HUMAN)
genes like me logo Genes that share domains with ADAMTSL3: view

No data available for Graphical View of Domain Structure and 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:0004222 metalloendopeptidase activity IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL3

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
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
peroxisome 0

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:0031012 extracellular matrix IBA 21873635
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 --
GO:0030198 extracellular matrix organization IBA 21873635
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


10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTSL3

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

No ASD Table

Relevant External Links for ADAMTSL3 Gene

GeneLoc Exon Structure for

Expression for ADAMTSL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTSL3

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(4.3)
  • Muscle(2)
  • Heart(2)
genes like me logo Genes that share expression patterns with ADAMTSL3: view

Primer Products

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 30 31
  • 99.21 (n)
(Bos Taurus)
Mammalia ADAMTSL3 30 31
  • 88.95 (n)
(Canis familiaris)
Mammalia ADAMTSL3 30 31
  • 87.41 (n)
(Rattus norvegicus)
Mammalia Adamtsl3 30
  • 84.37 (n)
(Mus musculus)
Mammalia Adamtsl3 30 17 31
  • 83.93 (n)
(Monodelphis domestica)
Mammalia ADAMTSL3 31
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 31 (a)
-- 31
  • 22 (a)
(Gallus gallus)
Aves ADAMTSL3 30 31
  • 68 (n)
(Anolis carolinensis)
Reptilia ADAMTSL3 31
  • 59 (a)
(Danio rerio)
Actinopterygii adamtsl3 30
  • 56.64 (n)
  • 49 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31619 31
  • 27 (a)
(Caenorhabditis elegans)
Secernentea T19D2.1 31
  • 11 (a)
Species where no ortholog for ADAMTSL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTSL3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
717632 Benign: not provided 83,982,772(+) C/A MISSENSE_VARIANT
720833 Benign: not provided 84,031,356(+) C/T MISSENSE_VARIANT
723692 Benign: not provided 84,031,351(+) T/C MISSENSE_VARIANT
727166 Likely Benign: not provided 83,704,405(+) C/A MISSENSE_VARIANT
768720 Benign: not provided 84,037,766(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ADAMTSL3 Gene

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

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

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

(6) MalaCards diseases for ADAMTSL3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
peters-plus syndrome
  • ptrpls
geleophysic dysplasia
  • geleophysic dwarfism
isolated ectopia lentis
  • familial ectopia lentis
weill-marchesani syndrome
  • wms
transitional meningioma
  • transitional meningioma
- 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
Open Targets Platform
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 23
  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 23
  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
  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 41
  5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 41

Products for ADAMTSL3 Gene

Sources for ADAMTSL3 Gene