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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 HIV Life Cycle and O-linked glycosylation. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is THSD4.

Additional gene information for ADAMTSL2 Gene

No data available for CIViC summary , 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
GH09H133505 1.3 Ensembl ENCODE 12.1 -25.7 -25700 2 FOXA2 ARID4B DMAP1 YY1 TCF12 ZNF766 FOS MXD4 REST MIER2 ADAMTSL2 MYMK FAM163B LOC102723855
GH09H133557 1.1 Ensembl ENCODE 12.8 +26.5 26466 2.5 INSM2 KLF17 EGR1 FOS RUNX3 IKZF2 HDAC8 MEF2D ZFP69B ZNF589 ENSG00000273249 TSC1 ADAMTSL2 MYMK FAM163B DBH GTF3C5 BRD3 DDX31
GH09H133485 1.2 Ensembl ENCODE 11.1 -45.7 -45730 1.1 RB1 ARID4B SIN3A ZNF2 RAD21 ZEB1 ZNF143 RCOR1 ATF7 CREM CACFD1 ADAMTS13 REXO4 ENSG00000201451 ENSG00000230064 SURF6 SURF4 STKLD1 MYMK ADAMTSL2
GH09H133700 1 Ensembl ENCODE dbSUPER 11.7 +170.1 170074 3.6 RING1 ZNF121 MAX SARDH ENSG00000273249 TSC1 DBH ADAMTSL2 GTF3C5 BRD3 GC09P133683
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAMTSL2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ADAMTSL2 Gene

Genomic Locations for ADAMTSL2 Gene
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 posLast=8787, Asn367, posLast=428428, posLast=475475, Asn511, posLast=524524, Asn533, Asn544, Asn731, and posLast=807807
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADAMTSL2 Gene

Domains & Families for ADAMTSL2 Gene

Gene Families for ADAMTSL2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

No data available for UniProtKB/Swiss-Prot for ADAMTSL2 Gene

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:0008270 zinc ion binding IEA --
GO:0050436 microfibril 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 Models for ADAMTSL2 Gene

MGI Knock Outs for ADAMTSL2:

Animal Model Products

miRNA for ADAMTSL2 Gene

miRTarBase miRNAs that target ADAMTSL2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 ADAMTSL2 gene
Compartment Confidence
extracellular 4
plasma membrane 3
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

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 --
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

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

Drugs & Compounds for ADAMTSL2 Gene

No Compound Related Data Available

Transcripts for ADAMTSL2 Gene

Unigene Clusters for ADAMTSL2 Gene

ADAMTS-like 2:
Representative Sequences:

Clone 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 CGAP 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, PaxDb, 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:


Evidence on tissue expression from TISSUES for ADAMTSL2 Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTSL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • vocal cord
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • liver
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ADAMTSL2: view

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 33 34
  • 98.87 (n)
(Bos Taurus)
Mammalia -- 34
  • 89 (a)
  • 88.36 (n)
(Canis familiaris)
Mammalia ADAMTSL2 33 34
  • 88.85 (n)
(Rattus norvegicus)
Mammalia Adamtsl2 33
  • 85.23 (n)
(Mus musculus)
Mammalia Adamtsl2 33 16 34
  • 84.88 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
(Gallus gallus)
Aves -- 34
  • 75 (a)
  • 74.3 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl2 33
  • 69.56 (n)
(Danio rerio)
Actinopterygii adamtsl2 33 34
  • 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

(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 Pathogenic, Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] 133,540,625(+) CAAAC(C/T)GTGTG reference, missense
rs113994122 Pathogenic, Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] 133,539,799(+) CTTCC(A/G)CGAGG reference, missense
rs113994123 Pathogenic, Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] 133,539,801(+) TCCGC(A/G)AGGAG reference, synonymous-codon, missense
rs113994124 Pathogenic, Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] 133,570,346(+) CCTGC(A/G)GGCGC reference, missense
rs387907064 Pathogenic, Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] 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
nsv957724 CNV deletion 24416366
nsv951799 CNV deletion 24416366
nsv615637 CNV loss 21841781
nsv428225 CNV loss 18775914
nsv1152742 CNV deletion 26484159
nsv1130184 CNV deletion 24896259
nsv1125319 OTHER inversion 24896259
nsv1076214 CNV deletion 25765185
nsv1075278 CNV deletion 25765185
esv7691 CNV loss 19470904
esv4384 CNV loss 18987735
esv3545573 CNV deletion 23714750
esv2759719 CNV gain+loss 17122850
esv2739169 CNV deletion 23290073
esv2739138 CNV deletion 23290073
esv2656927 CNV deletion 23128226
esv22841 CNV gain 19812545
esv2226113 CNV deletion 18987734
esv1693178 CNV deletion 17803354
dgv4157n106 CNV deletion 24896259
dgv4156n106 CNV deletion 24896259

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: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
geleophysic dysplasia 1
  • geleophysic dwarfism
geleophysic dysplasia
  • geleophysic dwarfism
tracheal stenosis
  • stenosis of trachea
tracheal disease
  • tracheal disorders
weill-marchesani syndrome
  • congenital mesodermal dystrophy
- 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 60
  2. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. (PMID: 21415077) Allali S … Cormier-Daire V (Journal of medical genetics 2011) 3 4 60
  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 (Nature genetics 2008) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. 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) 2 3 60

Products for ADAMTSL2 Gene

Sources for ADAMTSL2 Gene

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