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Adamtsl2 ADAMTS-like 2 [ Mus musculus (house mouse) ]

Gene ID: 77794, updated on 26-Mar-2024

Summary

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Official Symbol
Adamtsl2provided by MGI
Official Full Name
ADAMTS-like 2provided by MGI
Primary source
MGI:MGI:1925044
See related
Ensembl:ENSMUSG00000036040 AllianceGenome:MGI:1925044
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
tcp-1; A930008K15Rik
Summary
Enables microfibril binding activity. Acts upstream of or within extracellular matrix organization; lobar bronchus epithelium development; and negative regulation of transforming growth factor beta receptor signaling pathway. Located in extracellular matrix and extracellular region. Is expressed in several structures, including cardiovascular system; limb; lung; musculoskeletal system; and tail mesenchyme. Used to study geleophysic dysplasia 1. Human ortholog(s) of this gene implicated in geleophysic dysplasia 1. Orthologous to human ADAMTSL2 (ADAMTS like 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 24.7), spleen adult (RPKM 14.5) and 15 other tissues See more
Orthologs
human all
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Genomic context

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See Adamtsl2 in Genome Data Viewer
Location:
2 A3; 2 19.22 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (26969348..26998993)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (27079336..27108981)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene 13398 Neighboring gene myomaker, myoblast fusion factor Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:26934889-26935076 Neighboring gene predicted gene, 36882 Neighboring gene family with sequence similarity 163, member B Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:26977601-26977932 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:26981648-26981757 Neighboring gene dopamine beta hydroxylase, opposite strand

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations. Zhang A, et al. J Biol Chem, 2020 Nov 13. PMID 32913123, Free PMC Article
  2. Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency. Delhon L, et al. FASEB J, 2019 Feb. PMID 30303737
  3. Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling. Taye N, et al. Matrix Biol, 2023 Jun. PMID 37187448,
  4. The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFβ signalling in cardiac fibroblasts. Rypdal KB, et al. Sci Rep, 2021 Oct 5. PMID 34611183, Free PMC Article
  5. Disruption of the Extracellular Matrix Progressively Impairs Central Nervous System Vascular Maturation Downstream of β-Catenin Signaling. Jensen LD, et al. Arterioscler Thromb Vasc Biol, 2019 Jul. PMID 31242033, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle.
    Title: A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle.
  2. Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
    Title: Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
  3. 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.
  4. O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
    Title: O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
  5. Adamtsl2 deficiency is associated with Impairment of chondrogenesis and microfibrillar network.
    Title: Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
  6. the bronchial epithelial dysplasia accompanying microfibril dysregulation in Adamtsl2(-/-) mice cannot be reversed by TGFbeta neutralization, and thus might be mediated by other mechanisms.
    Title: Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.
  7. Data suggest that induction of Adamtsl2 mRNA is an integral feature of myogenesis.
    Title: ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
NOT enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microfibril binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within extracellular matrix organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lobar bronchus epithelium development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ADAMTS-like protein 2
Names
TSP1-repeat-containing protein 1
TSP1-repeats-containing protein 1

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.

mRNA and Protein(s)

  1. NM_029981.2 → NP_084257.1  ADAMTS-like protein 2 precursor

    See identical proteins and their annotated locations for NP_084257.1

    Status: VALIDATED

    Source sequence(s)
    AB096928, AI844377, AL845266
    Consensus CDS
    CCDS15824.1
    UniProtKB/Swiss-Prot
    Q3U0C8, Q7TSK7
    UniProtKB/TrEMBL
    A1A5B7
    Related
    ENSMUSP00000088774.7, ENSMUST00000091233.7
    Conserved Domains (4) summary
    smart00209
    Location:50 → 106
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:216 → 330
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:922 → 953
    PLAC; PLAC (protease and lacunin) domain
    pfam19030
    Location:804 → 860
    TSP1_ADAMTS; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    26969348..26998993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006498439.4 → XP_006498502.1  ADAMTS-like protein 2 isoform X3

    Conserved Domains (2) summary
    smart00209
    Location:50 → 106
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:216 → 330
    ADAM_spacer1; ADAM-TS Spacer 1

  2. XM_036162721.1 → XP_036018614.1  ADAMTS-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q3U0C8, Q7TSK7
    UniProtKB/TrEMBL
    A1A5B7
    Conserved Domains (4) summary
    smart00209
    Location:50 → 106
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:216 → 330
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:922 → 953
    PLAC; PLAC (protease and lacunin) domain
    pfam19030
    Location:804 → 860
    TSP1_ADAMTS; Thrombospondin type 1 domain

  3. XM_030252238.2 → XP_030108098.1  ADAMTS-like protein 2 isoform X2

    Conserved Domains (3) summary
    smart00209
    Location:576 → 625
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:8 → 41
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:633 → 664
    PLAC; PLAC (protease and lacunin) domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7TSK7.1 GenPept UniProtKB/Swiss-Prot:Q7TSK7

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