Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ADAMTSL2 Gene

protein-coding   GIFtS: 53
GCID: GC09P136397

ADAMTS-Like 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
ADAMTS-Like 21 2
ADAMTSL-22 3
GPHYSD12 5
KIAA06053 5
ADAMTS-Like Protein 22

External Ids:    HGNC: 146311   Entrez Gene: 97192   Ensembl: ENSG000001978597   OMIM: 6122775   UniProtKB: Q86TH13   

Export aliases for ADAMTSL2 gene to outside databases

Previous GC identifers: GC09P133426 GC09P135387 GC09P105898


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is ADAMTSL4.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTSL2 gene promoter:
         S8   STAT1   FOXD3   STAT1beta   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTSL2 promoter sequence
   Search Chromatin IP Primers for ADAMTSL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTSL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.2   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q34.3

ADAMTSL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTSL2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P136397:  view genomic region     (about GC identifiers)

Start:
136,397,286 bp from pter      End:
136,440,641 bp from pter
Size:
43,356 bases      Orientation:
plus strand

1 alternative location:
Chr9+,NT_113911 2,261-22,432     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ATL2_HUMAN, Q86TH1 (See protein sequence)
Recommended Name: ADAMTS-like protein 2 precursor  
Size: 951 amino acids; 104621 Da
Subunit: 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
Caution: Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and
disintegrin-like domains which are typical of that family
Sequence caution: Sequence=BAA25531.2; Type=Erroneous initiation;
Secondary accessions: B1B0D5 O60345

Explore the universe of human proteins at neXtProt for ADAMTSL2: NX_Q86TH1

Explore proteomics data for ADAMTSL2 at MOPED

Post-translational modifications: 

  • 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)1
  • Glycosylation2 at Asn87, Asn367, Asn428, Asn475, Asn511, Asn524, Asn533, Asn544, Asn731, Asn807

  • See ADAMTSL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138792.1  NP_055509.2  

    ENSEMBL proteins: 
     ENSP00000346478   ENSP00000376781   ENSP00000376780  
    Reactome Protein details: Q86TH1

    ADAMTSL2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ADAMTSL2
    GenScript Custom Purified and Recombinant Proteins Services for ADAMTSL2
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADAMTSL2

    ADAMTSL2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ADAMTSL2
    OriGene Custom Antibody Services for ADAMTSL2
    Novus Biologicals ADAMTSL2 Antibody
    Abcam antibodies for ADAMTSL2
    Cloud-Clone Corp. Antibodies for ADAMTSL2
    ThermoFisher Antibody for ADAMTSL2
    LSBio Antibodies in human, mouse, rat for ADAMTSL2

    ADAMTSL2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ADAMTSL2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ADAMTSL2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ADAMTSL2
    Cloud-Clone Corp. CLIAs for ADAMTSL2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR000884 Thrombospondin_1_rpt
     IPR010909 PLAC
     IPR013273 Peptidase_M12B_ADAM-TS
     IPR010294 ADAM_spacer1

    Graphical View of Domain Structure for InterPro Entry Q86TH1

    ProtoNet protein and cluster: Q86TH1

    UniProtKB/Swiss-Prot: ATL2_HUMAN, Q86TH1
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 7 TSP type-1 domains


    ADAMTSL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI18677313
    GO:0008233peptidase activity ----
    GO:0008270zinc ion binding IEA--
         
    ADAMTSL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTSL2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTSL2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ADAMTSL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADAMTSL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADAMTSL2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ADAMTSL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ADAMTSL2 (see all 10):
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-103a hsa-miR-93 hsa-miR-20b hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ADAMTSL2
    Predesigned siRNA for gene silencing in human, mouse, rat ADAMTSL2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ADAMTSL2

    Clone
    Products:
         
    OriGene clones in human, mouse for ADAMTSL2 (see all 11)
    OriGene ORF clones in mouse, rat for ADAMTSL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADAMTSL2 (NM_014694)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADAMTSL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTSL2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ADAMTSL2
    Browse ESI BIO Cell Lines and PureStem Progenitors for ADAMTSL2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTSL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ATL2_HUMAN, Q86TH1: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane3
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0031012extracellular matrix ----

    ADAMTSL2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for ADAMTSL2
        O-glycosylation of TSR domain-containing proteins



    ADAMTSL2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTSL2
    Interactions:

        Search GeneGlobe Interaction Network for ADAMTSL2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ADAMTSL2 (ENSP000003464784) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBLN1ENSP000003315444STRING: ENSP00000331544
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway IMP18677313

    ADAMTSL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADAMTSL2 (ATL2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ADAMTSL2 gene (2 alternative transcripts): 
    NM_001145320.1  NM_014694.3  

    Unigene Cluster for ADAMTSL2:

    ADAMTS-like 2
    Hs.522543  [show with all ESTs]
    Unigene Representative Sequence: NM_001145320
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354484(uc011mdl.2 uc004cej.3) ENST00000393061(uc004cei.3)
    ENST00000393060
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ADAMTSL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ADAMTSL2 (see all 10):
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-103a hsa-miR-93 hsa-miR-20b hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ADAMTSL2
    Predesigned siRNA for gene silencing in human, mouse, rat ADAMTSL2
    Clone
    Products:
         
    OriGene clones in human, mouse for ADAMTSL2 (see all 11)
    OriGene ORF clones in mouse, rat for ADAMTSL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADAMTSL2 (NM_014694)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADAMTSL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTSL2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ADAMTSL2
    OriGene qSTAR qPCR primer pairs in human, mouse for ADAMTSL2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADAMTSL2
      QuantiTect SYBR Green Assays in human, mouse, rat ADAMTSL2
      QuantiFast Probe-based Assays in human, mouse, rat ADAMTSL2

    Additional mRNA sequence: 

    AB011177.1 AK127107.1 AK293498.1 BC050544.1 

    5 DOTS entries:

    DT.95096240  DT.302590  DT.99988147  DT.100747177  DT.121152030 

    Selected AceView cDNA sequences (see all 56):

    AI863311 BU151644 BG820713 BI963105 BX345176 CK903629 CA952469 BQ071334 
    BU159537 BI966839 BX098716 CK903628 BI963035 AW444475 CA952718 AK127107 
    BX359326 AW195375 BE797153 BI770935 CD625927 AI571260 BX509469 BC050544 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL2 (see all 8)    About this scheme

    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:                                                                                                                                                      


    ECgene alternative splicing isoforms for ADAMTSL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ADAMTSL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCTCTCTT
    ADAMTSL2 Expression
    About this image


    ADAMTSL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Sclerotome cells
             Intervertebral disc (IVD) annulus fibrosus (AF) cells
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Bone (Muscoskeletal System)
             Sclerotome cells
    ADAMTSL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTSL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522543
        Custom PCR Arrays for ADAMTSL2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ADAMTSL2
    OriGene qSTAR qPCR primer pairs in human, mouse for ADAMTSL2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADAMTSL2
    QuantiTect SYBR Green Assays in human, mouse, rat ADAMTSL2
    QuantiFast Probe-based Assays in human, mouse, rat ADAMTSL2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTSL2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for ADAMTSL2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamtsl21 , 5 ADAMTS-like 21, 5 84.88(n)1
    88.63(a)1
      2 (19.22 cM)5
    777941  NM_029981.11  NP_084257.11 
     270793795 
    chicken
    (Gallus gallus)
    Aves ADAMTSL21 ADAMTS-like 2 74.3(n)
    77.65(a)
      417147  XM_004945946.1  XP_004946003.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    74(a)
    1 → many
    GL343999.1(39532-76980)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adamtsl21 ADAMTS-like 2 69.56(n)
    71.69(a)
      101734546  XM_004919806.1  XP_004919863.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adamtsl21 ADAMTS-like 2 68.61(n)
    70.5(a)
      100537087  XM_003198720.2  XP_003198768.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ADAMTSL2 gene
    ADAMTSL42  ADAMTS72  ADAMTS132  ADAMTS122  THSD42  PAPLN2  ADAMTSL52  ADAMTSL12  
    ENSG000002156162  ADAMTSL32  
    1 SIMAP similar gene for ADAMTSL2 using alignment to 2 protein entries:     ATL2_HUMAN (see all proteins):
    DKFZp434K1772

    ADAMTSL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ADAMTSL2 (see all 963)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0548754
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0548752 E K mis40--------
    VAR_0665494
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0665492 A T mis40--------
    VAR_0665434
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0665432 W C mis40--------
    VAR_0548764
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0548762 P L mis40--------
    VAR_0665524
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0665522 S L mis40--------
    VAR_0665484
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0665482 R C mis40--------
    VAR_0665474
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0665472 C R mis40--------
    VAR_0548774
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0548772 G R mis40--------
    VAR_0548744
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0548742 R H mis40--------
    VAR_0665444
    Geleophysic dysplasia 1 (GPHYSD1)4--see VAR_0665442 R Q mis40--------

    HapMap Linkage Disequilibrium report for ADAMTSL2 (136397286 - 136440641 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADAMTSL2 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739169CNV Deletion23290073
    esv1693178CNV Deletion17803354
    esv4384CNV Deletion18987735
    esv2656927CNV Deletion23128226
    esv2226113CNV Deletion18987734
    esv2739138CNV Deletion23290073
    dgv8330n71CNV Loss21882294
    dgv8328n71CNV Loss21882294
    dgv8325n71CNV Loss21882294
    nsv894094CNV Loss21882294

    Human Gene Mutation Database (HGMD): ADAMTSL2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADAMTSL2
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTSL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 612277   
    OMIM disorders: 231050  
    UniProtKB/Swiss-Prot: ATL2_HUMAN, Q86TH1
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for ADAMTSL2:    
    About MalaCards
    geleophysic dysplasia 1    geleophysic dysplasia    tracheal stenosis    weill-marchesani syndrome
    brachydactyly    short stature    cervicitis    multiple myeloma
    myeloma

    3 diseases from the University of Copenhagen DISEASES database for ADAMTSL2:
    Weill-Marchesani syndrome     Tracheal stenosis     Brachydactyly

    ADAMTSL2 for disorders           About GeneDecksing

    GeneTests: ADAMTSL2
    GeneReviews: ADAMTSL2
    Genetic Association Database (GAD): ADAMTSL2

    Export disorders for ADAMTSL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for ADAMTSL2 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ADAMTSL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    2. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. (PubMed id 21415077)1, 2 Allali S.... Cormier-Daire V. (J. Med. Genet. 2011)
    3. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. (PubMed id 18677313)1, 2 Le Goff C....Cormier-Daire V. (Nat. Genet. 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases. (PubMed id 14667842)1, 3 Hall N.G.... Apte S.S. (Matrix Biol. 2003)
    6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    7. Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. (PubMed id 19729612)4 Paterson A.D....Bull S.B. (Arterioscler. Thromb. Vasc. Biol. 2009)
    8. A strategy for precise and large scale identification of core fucosylated glycoproteins. (PubMed id 19139490)2 Jia W.... Qian X.H. (Mol. Cell. Proteomics 2009)
    9. ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. (PubMed id 17509843)1 Koo B.H....Apte S.S. (Matrix Biol. 2007)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9719 HGNC: 14631 AceView: KIAA0605 Ensembl:ENSG00000197859 euGenes: HUgn9719
    ECgene: ADAMTSL2 H-InvDB: ADAMTSL2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0605

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ADAMTSL2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ADAMTSL2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ADAMTSL2 gene:
    Search GeneIP for patents involving ADAMTSL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ADAMTSL2   OriGene RNAi products in human, mouse, rat for ADAMTSL2  
     OriGene qPCR primer pairs and template standards for ADAMTSL2   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ADAMTSL2  
     OriGene qSTAR qPCR primer pairs in human, mouse for ADAMTSL2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ADAMTSL2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ADAMTSL2   OriGene Custom Protein Services for ADAMTSL2  

     
     
     Block miRNA regulation of human, mouse, rat ADAMTSL2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ADAMTSL2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTSL2 Predesigned siRNA for gene silencing in human, mouse, rat ADAMTSL2
     QuantiFast Probe-based Assays in human, mouse, rat ADAMTSL2 QuantiTect SYBR Green Assays in human, mouse, rat ADAMTSL2
     Custom PCR Arrays for ADAMTSL2 Search Chromatin IP Primers for ADAMTSL2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADAMTSL2  Search GeneGlobe Interaction Network for ADAMTSL2
     Regulatory tfbs in ADAMTSL2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ADAMTSL2 GenScript cDNA clones with any tag delivered in your preferred vector for ADAMTSL2
     GenScript Custom Assay Services for ADAMTSL2 GenScript Custom overexpressing Cell Line Services for ADAMTSL2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ADAMTSL2 (ATL2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ADAMTSL2 antibodies
     Antibodies for ADAMTSL2
     See all of Abcam's Antibodies, Kits and Proteins for ADAMTSL2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ADAMTSL2
     Antibodies for ADAMTSL2
     ELISAs for ADAMTSL2
     CLIAs for ADAMTSL2



     Browse ESI BIO Cell Lines and PureStem Progenitors for ADAMTSL2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTSL2
     SwitchGear 3'UTR luciferase reporter plasmids for ADAMTSL2
     SwitchGear Promoter luciferase reporter plasmids for ADAMTSL2
     ThermoFisher Antibody for ADAMTSL2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTSL2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTSL2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ADAMTSL2
     LSBio Antibodies in human, mouse, rat for ADAMTSL2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ADAMTSL2 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4