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Aliases for ADAMTSL2 Gene

Aliases for ADAMTSL2 Gene

  • ADAMTS Like 2 2 3 5
  • ADAMTSL-2 3 4
  • ADAMTS-Like Protein 2 3
  • KIAA0605 4
  • GPHYSD1 3

External Ids for ADAMTSL2 Gene

Previous GeneCards Identifiers for ADAMTSL2 Gene

  • GC09P133426
  • GC09P135387
  • GC09P136397
  • GC09P105898

Summaries for ADAMTSL2 Gene

Entrez Gene Summary for ADAMTSL2 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]

GeneCards Summary for ADAMTSL2 Gene

ADAMTSL2 (ADAMTS Like 2) is a Protein Coding gene. Diseases associated with ADAMTSL2 include Geleophysic Dysplasia 1 and Geleophysic Dysplasia. Among its related pathways are O-glycosylation of TSR domain-containing proteins and HIV Life Cycle. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is THSD4.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTSL2 Gene

Genomics for ADAMTSL2 Gene

Regulatory Elements for ADAMTSL2 Gene

Enhancers for ADAMTSL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F133619 1.2 Ensembl ENCODE 16.7 +87.9 87937 0.6 CTCF ZFP64 SIN3A ZNF2 RAD21 YY1 ZNF143 SMC3 PRDM10 CREM ADAMTSL2 DBH-AS1 TMEM8C SARDH FAM163B ENSG00000261018
GH09F133557 1.3 Ensembl ENCODE 12.8 +26.5 26466 2.5 INSM2 SIN3A KLF17 FOS JUNB MEF2D ZFP69B SMARCA4 IKZF1 ZNF341 ENSG00000273249 TSC1 ADAMTSL2 TMEM8C FAM163B DBH
GH09F133564 0.6 ENCODE 12.3 +33.3 33280 1.5 HIC1 ZFHX2 KLF1 ZNF366 ZNF169 ZBTB33 PRDM1 EGR2 ADAMTSL2 TMEM8C FAM163B DBH
GH09F133505 1.3 Ensembl ENCODE 12.1 -25.7 -25725 2.1 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 FOS SP5 MXD4 ADAMTSL2 TMEM8C FAM163B LOC102723855
GH09F133583 1.1 Ensembl ENCODE 12 +53.0 52958 2.7 RING1 ZIC2 RAD21 ZFHX2 GLIS2 POLR2A PATZ1 SCRT2 ZNF600 EGR2 ENSG00000273249 TSC1 ADAMTSL2 TMEM8C DBH CACFD1 ADAMTS13 FAM163B
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ADAMTSL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADAMTSL2 Gene

133,532,164 bp from pter
133,575,519 bp from pter
43,356 bases
Plus strand

Genomic View for ADAMTSL2 Gene

Genes around ADAMTSL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTSL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTSL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTSL2 Gene

Proteins for ADAMTSL2 Gene

  • Protein details for ADAMTSL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ADAMTS-like protein 2
    Protein Accession:
    Secondary Accessions:
    • B1B0D5
    • O60345

    Protein attributes for ADAMTSL2 Gene

    951 amino acids
    Molecular mass:
    104621 Da
    Quaternary structure:
    • Interacts with LTBP1.
    • There is a significant increase in total and active TGFB1 in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.
    • Sequence=BAA25531.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ADAMTSL2 Gene

Post-translational modifications for ADAMTSL2 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 Asn 87, Asn 367, Asn 428, Asn 475, Asn 511, Asn 524, Asn 533, Asn 544, Asn 731, and Asn 807
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADAMTSL2 Gene

Domains & Families for ADAMTSL2 Gene

Gene Families for ADAMTSL2 Gene

Protein Domains for ADAMTSL2 Gene

Suggested Antigen Peptide Sequences for ADAMTSL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PLAC domain.
  • Contains 1 PLAC domain.
  • Contains 7 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTSL2: view

Function for ADAMTSL2 Gene

Gene Ontology (GO) - Molecular Function for ADAMTSL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 18677313
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTSL2: view
genes like me logo Genes that share phenotypes with ADAMTSL2: view

Human Phenotype Ontology for ADAMTSL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTSL2

miRNA for ADAMTSL2 Gene

miRTarBase miRNAs that target ADAMTSL2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTSL2 Gene

Localization for ADAMTSL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTSL2 Gene


Subcellular locations from

Jensen Localization Image for ADAMTSL2 Gene COMPARTMENTS Subcellular localization image for ADAMTSL2 gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ADAMTSL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with ADAMTSL2: view

Pathways & Interactions for ADAMTSL2 Gene

genes like me logo Genes that share pathways with ADAMTSL2: view

Interacting Proteins for ADAMTSL2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q86TH1-ATL2_HUMAN ENSP00000346478 for ADAMTSL2 Gene via IID STRING MINT

Gene Ontology (GO) - Biological Process for ADAMTSL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IMP 18677313
GO:0060481 lobar bronchus epithelium development IEA --
genes like me logo Genes that share ontologies with ADAMTSL2: view

No data available for SIGNOR curated interactions for ADAMTSL2 Gene

Transcripts for ADAMTSL2 Gene

Unigene Clusters for ADAMTSL2 Gene

ADAMTS-like 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19
SP1: -
SP6: -

Relevant External Links for ADAMTSL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTSL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTSL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTSL2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x10.0), Liver (x4.6), and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for ADAMTSL2 Gene

This gene is overexpressed in Serum (47.5) and Plasma (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTSL2 Gene

Protein tissue co-expression partners for ADAMTSL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTSL2 Gene:


SOURCE GeneReport for Unigene cluster for ADAMTSL2 Gene:

genes like me logo Genes that share expression patterns with ADAMTSL2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ADAMTSL2 Gene

Orthologs for ADAMTSL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTSL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADAMTSL2 34 35
  • 98.87 (n)
(Bos Taurus)
Mammalia -- 35
  • 89 (a)
  • 88.36 (n)
(Canis familiaris)
Mammalia ADAMTSL2 34 35
  • 88.85 (n)
(Rattus norvegicus)
Mammalia Adamtsl2 34
  • 85.23 (n)
(Mus musculus)
Mammalia Adamtsl2 34 16 35
  • 84.88 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
(Gallus gallus)
Aves -- 35
  • 75 (a)
  • 74.3 (n)
(Anolis carolinensis)
Reptilia -- 35
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl2 34
  • 69.56 (n)
(Danio rerio)
Actinopterygii adamtsl2 34 35
  • 68.61 (n)
Species where no ortholog for ADAMTSL2 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTSL2 Gene

Gene Tree for ADAMTSL2 (if available)
Gene Tree for ADAMTSL2 (if available)

Paralogs for ADAMTSL2 Gene

Paralogs for ADAMTSL2 Gene

(1) SIMAP similar genes for ADAMTSL2 Gene using alignment to 2 proteins: Pseudogenes for ADAMTSL2 Gene

genes like me logo Genes that share paralogs with ADAMTSL2: view

Variants for ADAMTSL2 Gene

Sequence variations from dbSNP and Humsavar for ADAMTSL2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs113994121 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050], Pathogenic 133,540,625(+) CAAAC(C/T)GTGTG reference, missense
rs113994122 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050], Pathogenic 133,539,799(+) CTTCC(A/G)CGAGG reference, missense
rs113994123 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050], Pathogenic 133,539,801(+) TCCGC(A/G)AGGAG reference, synonymous-codon, missense
rs113994124 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050], Pathogenic 133,570,346(+) CCTGC(A/G)GGCGC reference, missense
rs387907064 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050], Pathogenic 133,537,529(+) GGAGC(A/G)GCACT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ADAMTSL2 Gene

Variant ID Type Subtype PubMed ID
dgv4156n106 CNV deletion 24896259
dgv4157n106 CNV deletion 24896259
esv1693178 CNV deletion 17803354
esv2226113 CNV deletion 18987734
esv22841 CNV gain 19812545
esv2656927 CNV deletion 23128226
esv2739138 CNV deletion 23290073
esv2739169 CNV deletion 23290073
esv2759719 CNV gain+loss 17122850
esv3545573 CNV deletion 23714750
esv4384 CNV loss 18987735
esv7691 CNV loss 19470904
nsv1075278 CNV deletion 25765185
nsv1076214 CNV deletion 25765185
nsv1125319 OTHER inversion 24896259
nsv1130184 CNV deletion 24896259
nsv1152742 CNV deletion 26484159
nsv428225 CNV loss 18775914
nsv615637 CNV loss 21841781
nsv951799 CNV deletion 24416366
nsv957724 CNV deletion 24416366

Variation tolerance for ADAMTSL2 Gene

Gene Damage Index Score: 1.80; 33.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTSL2 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 ADAMTSL2 Gene

Disorders for ADAMTSL2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ADAMTSL2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
geleophysic dysplasia 1
  • geleophysic dysplasia
geleophysic dysplasia
  • geleophysic dwarfism
tracheal stenosis
  • stenosis of trachea
tracheal disease
  • tracheal disorders
weill-marchesani syndrome 1, recessive
  • weill-marchesani syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]: An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a happy face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. {ECO:0000269 PubMed:18677313, ECO:0000269 PubMed:21415077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADAMTSL2

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ADAMTSL2: view

No data available for Genatlas for ADAMTSL2 Gene

Publications for ADAMTSL2 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. (PMID: 21415077) Allali S. … Cormier-Daire V. (J. Med. Genet. 2011) 3 4 64
  3. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. (PMID: 18677313) Le Goff C. … Cormier-Daire V. (Nat. Genet. 2008) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases. (PMID: 14667842) Hall N.G. … Apte S.S. (Matrix Biol. 2003) 2 3 64

Products for ADAMTSL2 Gene

Sources for ADAMTSL2 Gene

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