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Aliases for ADAMTSL2 Gene

Aliases for ADAMTSL2 Gene

  • ADAMTS Like 2 2 3 5
  • ADAMTSL-2 3 4
  • ADAMTS-Like 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-linked glycosylation and Transport to the Golgi and subsequent modification. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL1.

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

Genomic Location for ADAMTSL2 Gene

Chromosome:
9
Start:
133,532,164 bp from pter
End:
133,575,519 bp from pter
Size:
43,356 bases
Orientation:
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:
    Q86TH1-ATL2_HUMAN
    Recommended name:
    ADAMTS-like protein 2
    Protein Accession:
    Q86TH1
    Secondary Accessions:
    • B1B0D5
    • O60345

    Protein attributes for ADAMTSL2 Gene

    Size:
    951 amino acids
    Molecular mass:
    104621 Da
    Quaternary structure:
    • Interacts with LTBP1.
    Miscellaneous:
    • 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.
    SequenceCaution:
    • Sequence=BAA25531.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ADAMTSL2 Gene

Proteomics data for ADAMTSL2 Gene at MOPED

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

Other Protein References for ADAMTSL2 Gene

Antibody Products

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

Q86TH1

UniProtKB/Swiss-Prot:

ATL2_HUMAN :
  • Contains 1 PLAC domain.
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: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

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

Secreted.

Subcellular locations from

COMPARTMENTS
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 --
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

Pathways by source for ADAMTSL2 Gene

Interacting Proteins for ADAMTSL2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000346478%0d%0a9606.ENSP00000331544%0d%0a
Selected Interacting proteins: ENSP00000346478 for ADAMTSL2 Gene via STRING

Symbol External ID(s) Details
FBLN1

Gene Ontology (GO) - Biological Process for ADAMTSL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
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:

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: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for ADAMTSL2 Gene

GeneLoc Exon Structure for
ADAMTSL2
ECgene alternative splicing isoforms for
ADAMTSL2

Expression for ADAMTSL2 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for ADAMTSL2 Gene Hs.522543

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

Protein tissue co-expression partners for ADAMTSL2 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ADAMTSL2 35
  • 88.36 (n)
  • 89.8 (a)
-- 36
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ADAMTSL2 35
  • 88.85 (n)
  • 90.85 (a)
ADAMTSL2 36
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adamtsl2 35
  • 84.88 (n)
  • 88.63 (a)
Adamtsl2 16
Adamtsl2 36
  • 88 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ADAMTSL2 35
  • 98.87 (n)
  • 98.73 (a)
ADAMTSL2 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamtsl2 35
  • 85.23 (n)
  • 89.26 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves ADAMTSL2 35
  • 74.3 (n)
  • 77.65 (a)
-- 36
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl2 35
  • 69.56 (n)
  • 71.69 (a)
zebrafish
(Danio rerio)
Actinopterygii adamtsl2 35
  • 68.61 (n)
  • 70.5 (a)
adamtsl2 36
  • 64 (a)
OneToMany
Species with no ortholog for ADAMTSL2:
  • 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

ENSEMBL:
Gene Tree for ADAMTSL2 (if available)
TreeFam:
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:

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
rs35767802 - 133,554,507(+) GCTTC(A/G)TCCCG reference, missense
VAR_054874 Geleophysic dysplasia 1 (GPHYSD1)
VAR_054875 Geleophysic dysplasia 1 (GPHYSD1)
VAR_054876 Geleophysic dysplasia 1 (GPHYSD1)
VAR_054877 Geleophysic dysplasia 1 (GPHYSD1)

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

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
dgv8325n71 CNV Loss 21882294
nsv894081 CNV Loss 21882294
dgv8328n71 CNV Loss 21882294
nsv894086 CNV Gain 21882294
nsv894094 CNV Loss 21882294
nsv894097 CNV Loss 21882294
dgv8330n71 CNV Loss 21882294
nsv894100 CNV Gain 21882294
nsv894101 CNV Loss 21882294
nsv894102 CNV Loss 21882294
dgv8331n71 CNV Loss 21882294
esv22841 CNV Gain 19812545
esv2226113 CNV Deletion 18987734
esv4384 CNV Deletion 18987735
esv2739169 CNV Deletion 23290073
esv7691 CNV Loss 19470904
esv1693178 CNV Deletion 17803354
esv2656927 CNV Deletion 23128226
dgv2425e1 CNV Complex 17122850
nsv428225 CNV Loss 18775914

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

HapMap Linkage Disequilibrium report
ADAMTSL2
Human Gene Mutation Database (HGMD)
ADAMTSL2

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 diseases
weill-marchesani syndrome
  • congenital mesodermal dystrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATL2_HUMAN
  • 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)
ADAMTSL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTSL2
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 67
  2. 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
  3. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. (PMID: 24014090) Ben-Salem S. … Al-Gazali L. (Birth Defects Res. Part A Clin. Mol. Teratol. 2013) 3
  4. 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
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for ADAMTSL2 Gene

Sources for ADAMTSL2 Gene

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