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    ADAMTSL2 ADAMTS like 2 [ Homo sapiens (human) ]

    Gene ID: 9719, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See ADAMTSL2 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133532164..133575519)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145746173..145789503)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders. Batkovskyte D, et al. J Bone Miner Res, 2023 May. PMID 36896612
    2. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Allali S, et al. J Med Genet, 2011 Jun. PMID 21415077, Free PMC Article
    3. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. Ben-Salem S, et al. Birth Defects Res A Clin Mol Teratol, 2013 Dec. PMID 24014090
    4. Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. Desai A, et al. BMC Musculoskelet Disord, 2016 Feb 16. PMID 26879370, Free PMC Article
    5. A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. Li D, et al. Eur J Med Genet, 2017 Dec. PMID 28917829

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
      Title: Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
    2. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
      Title: Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
    3. The relationship of ADAMTSL2 and LRPAP1 gene methylation level with rheumatoid arthritis activity.
      Title: The relationship of ADAMTSL2 and LRPAP1 gene methylation level with rheumatoid arthritis activity.
    4. ADAMTSL2 protein and a soluble biomarker signature identify at-risk non-alcoholic steatohepatitis and fibrosis in adults with NAFLD.
      Title: ADAMTSL2 protein and a soluble biomarker signature identify at-risk non-alcoholic steatohepatitis and fibrosis in adults with NAFLD.
    5. Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
      Title: Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
    6. The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFbeta signalling in cardiac fibroblasts.
      Title: The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFβ signalling in cardiac fibroblasts.
    7. ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
      Title: ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
    8. Findings postulate that abnormal fibrillin microfibril assembly is the general molecular basis of geleophysic dysplasia, and the specific role of ADAMTSL2 may be to inhibit microfibril assembly, whether it be assembly of FBN2 fibrils in the embryonic period or FBN1 fibrils in tendons during the postnatal period.
      Title: Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
    9. Upon investigating the interaction between LOX and ADAMTSL2 we found that the absence or inhibition of Lox affected ADAMTSL2 molecular forms and reduced its tissue levels. Thus, ADAMTSL2 stability and inter-molecular complexes may depend on the activity of lysyl oxidases.
      Title: Interactions between lysyl oxidases and ADAMTS proteins suggest a novel crosstalk between two extracellular matrix families.
    10. CpG-specific DNA methylation of ADAMTSL2 and BTN3A2 at rheumatoid arthritis diagnosis can serve as a marker of treatment response.
      Title: CpG-specific methylation at rheumatoid arthritis diagnosis as a marker of treatment response.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Geleophysic dysplasia 1
    MedGen: C3278147 OMIM: 231050 GeneReviews: Geleophysic Dysplasia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lobar bronchus epithelium development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    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
    		  

    General protein information

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    Preferred Names
    ADAMTS-like protein 2

    NCBI Reference Sequences (RefSeq)

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    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_001145320.2 → NP_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:50 → 106
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:216 → 330
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:916 → 947
      PLAC; PLAC (protease and lacunin) domain

    2. NM_014694.4 → NP_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:50 → 106
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:216 → 330
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:916 → 947
      PLAC; PLAC (protease and lacunin) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011519241.3 → XP_011517543.2  ADAMTS-like protein 2 isoform X1

      UniProtKB/TrEMBL
      B1B0D4

    2. XM_005272239.3 → XP_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:50 → 106
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:216 → 330
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:916 → 947
      PLAC; PLAC (protease and lacunin) domain

    3. XM_011519242.4 → XP_011517544.1  ADAMTS-like protein 2 isoform X2

      UniProtKB/TrEMBL
      B1B0D4
      Conserved Domains (3) summary
      smart00209
      Location:881 → 930
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:238 → 352
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:938 → 969
      PLAC; PLAC (protease and lacunin) domain

    4. XM_005272238.4 → XP_005272295.1  ADAMTS-like protein 2 isoform X3

      Conserved Domains (3) summary
      smart00209
      Location:869 → 918
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:226 → 340
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:926 → 957
      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_054364285.1 → XP_054220260.1  ADAMTS-like protein 2 isoform X1

    2. XM_054364288.1 → XP_054220263.1  ADAMTS-like protein 2 isoform X4

      UniProtKB/Swiss-Prot
      B1B0D5, O60345, Q86TH1

    3. XM_054364286.1 → XP_054220261.1  ADAMTS-like protein 2 isoform X2

    4. XM_054364287.1 → XP_054220262.1  ADAMTS-like protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TH1.1 GenPept UniProtKB/Swiss-Prot:Q86TH1

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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