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

Summary

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 and impotence. Human ortholog(s) of this gene implicated in geleophysic dysplasia 1. Orthologous to human ADAMTSL2 (ADAMTS like 2). [provided by Alliance of Genome Resources, Dec 2024]
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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
Title: Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
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.
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.
Adamtsl2 deficiency is associated with Impairment of chondrogenesis and microfibrillar network.
Title: Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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.
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.

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Variation

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Alleles

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

Spontaneous (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Adamtsl2 (e-PCR), detects polymorphism
- UniSTS:506677

Adamtsl2 (e-PCR), detects polymorphism
- UniSTS:532658

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)

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

26969348..26998993

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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