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    ADAMTSL2 ADAMTS like 2 [ Homo sapiens (human) ]

    Gene ID: 9719, updated on 19-May-2018
    Official Symbol
    ADAMTSL2provided by HGNC
    Official Full Name
    ADAMTS like 2provided by HGNC
    Primary source
    HGNC:HGNC:14631
    See related
    Ensembl:ENSG00000197859 MIM:612277; Vega:OTTHUMG00000131706
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPHYSD1
    Summary
    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]
    Expression
    Broad expression in kidney (RPKM 10.4), adrenal (RPKM 9.6) and 18 other tissues See more
    Orthologs
    See ADAMTSL2 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (133532164..133575519)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136397286..136440641)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723855 Neighboring gene myomaker, myoblast fusion factor Neighboring gene family with sequence similarity 163 member B Neighboring gene dopamine beta-hydroxylase Neighboring gene DBH antisense RNA 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
      Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
      O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ45164, KIAA0605

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    microfibril binding IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    lobar bronchus epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ADAMTS-like protein 2
    Names
    ADAMTSL-2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009931.1 RefSeqGene

      Range
      5001..48356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145320.1NP_001138792.1  ADAMTS-like protein 2 precursor

      See identical proteins and their annotated locations for NP_001138792.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB011177, AI571260, BX324209
      Consensus CDS
      CCDS6976.1
      UniProtKB/Swiss-Prot
      Q86TH1
      Related
      ENSP00000346478.4, OTTHUMP00000162492, ENST00000354484.8, OTTHUMT00000254619
      Conserved Domains (3) summary
      smart00209
      Location:50106
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:216330
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:916947
      PLAC; PLAC (protease and lacunin) domain
    2. NM_014694.3NP_055509.2  ADAMTS-like protein 2 precursor

      See identical proteins and their annotated locations for NP_055509.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC050544, BX324209, BX629352
      Consensus CDS
      CCDS6976.1
      UniProtKB/Swiss-Prot
      Q86TH1
      Related
      ENSP00000376780.1, ENST00000393060.1
      Conserved Domains (3) summary
      smart00209
      Location:50106
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:216330
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:916947
      PLAC; PLAC (protease and lacunin) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      133532164..133575519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272237.3XP_005272294.1  ADAMTS-like protein 2 isoform X1

      UniProtKB/TrEMBL
      B1B0D4
      Related
      ENSP00000376781.3, OTTHUMP00000162493, ENST00000393061.7, OTTHUMT00000254620
      Conserved Domains (3) summary
      smart00209
      Location:159215
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:325439
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10251056
      PLAC; PLAC (protease and lacunin) domain
    2. XM_011519242.3XP_011517544.1  ADAMTS-like protein 2 isoform X3

      Conserved Domains (3) summary
      smart00209
      Location:881930
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:238352
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:938969
      PLAC; PLAC (protease and lacunin) domain
    3. XM_005272238.3XP_005272295.1  ADAMTS-like protein 2 isoform X4

      Conserved Domains (3) summary
      smart00209
      Location:869918
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:226340
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:926957
      PLAC; PLAC (protease and lacunin) domain
    4. XM_011519241.2XP_011517543.2  ADAMTS-like protein 2 isoform X2

    5. XM_005272239.2XP_005272296.1  ADAMTS-like protein 2 isoform X5

      See identical proteins and their annotated locations for XP_005272296.1

      UniProtKB/Swiss-Prot
      Q86TH1
      Conserved Domains (3) summary
      smart00209
      Location:50106
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:216330
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:916947
      PLAC; PLAC (protease and lacunin) domain
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