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    ADAMTSL2 ADAMTS like 2 [ Homo sapiens (human) ]

    Gene ID: 9719, updated on 17-Jun-2024

    Summary

    Official Symbol
    ADAMTSL2provided by HGNC
    Official Full Name
    ADAMTS like 2provided by HGNC
    Primary source
    HGNC:HGNC:14631
    See related
    Ensembl:ENSG00000197859 MIM:612277; AllianceGenome:HGNC:14631
    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; ADAMTSL-2
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADAMTSL2 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133532164..133575519)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145746173..145789503)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136374104-136374823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136377760-136378446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136385034-136385534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136395091-136395596 Neighboring gene myomaker, myoblast fusion factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136398691-136399232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136399233-136399772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136399773-136400314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136400855-136401396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136401937-136402476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136404277-136405008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136405742-136406473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136407445-136407945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136410411-136411066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136420460-136420962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136420963-136421464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136421967-136422468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136436438-136437078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136442732-136443347 Neighboring gene uncharacterized LOC124902296 Neighboring gene family with sequence similarity 163 member B Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136457531-136458030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136480627-136481226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136502750-136503485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136519605-136520404 Neighboring gene dopamine beta-hydroxylase Neighboring gene DBH antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45164, KIAA0605

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microfibril binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      7541..48356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001138792.1

      Status: REVIEWED

      Source sequence(s)
      BX324209, BX629352, BX649571
      Consensus CDS
      CCDS6976.1
      UniProtKB/Swiss-Prot
      B1B0D5, O60345, Q86TH1
      UniProtKB/TrEMBL
      B1B0D4
      Related
      ENSP00000346478.4, ENST00000354484.8
      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_014694.4NP_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
      B1B0D5, O60345, Q86TH1
      UniProtKB/TrEMBL
      B1B0D4
      Related
      ENSP00000498961.2, ENST00000651351.2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011519241.3XP_011517543.2  ADAMTS-like protein 2 isoform X1

      UniProtKB/TrEMBL
      B1B0D4
    2. XM_005272239.3XP_005272296.1  ADAMTS-like protein 2 isoform X4

      See identical proteins and their annotated locations for XP_005272296.1

      UniProtKB/Swiss-Prot
      B1B0D5, O60345, Q86TH1
      UniProtKB/TrEMBL
      B1B0D4
      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
    3. XM_011519242.4XP_011517544.1  ADAMTS-like protein 2 isoform X2

      UniProtKB/TrEMBL
      B1B0D4
      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
    4. XM_005272238.4XP_005272295.1  ADAMTS-like protein 2 isoform X3

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145746173..145789503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364285.1XP_054220260.1  ADAMTS-like protein 2 isoform X1

      UniProtKB/TrEMBL
      B1B0D4
    2. XM_054364288.1XP_054220263.1  ADAMTS-like protein 2 isoform X4

      UniProtKB/Swiss-Prot
      B1B0D5, O60345, Q86TH1
      UniProtKB/TrEMBL
      B1B0D4
    3. XM_054364286.1XP_054220261.1  ADAMTS-like protein 2 isoform X2

      UniProtKB/TrEMBL
      B1B0D4
    4. XM_054364287.1XP_054220262.1  ADAMTS-like protein 2 isoform X3