ADAMTSL2 ADAMTS like 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
Title: Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1793 (e-PCR), detects polymorphism
- UniSTS:55569

D8S2279 (e-PCR)
- UniSTS:473907

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

NG_009931.1 RefSeqGene

Range

7541..48356

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

133532164..133575519

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B1B0D4
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
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
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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145746173..145789503

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B1B0D4
XM_054364288.1 → XP_054220263.1 ADAMTS-like protein 2 isoform X4

UniProtKB/Swiss-Prot

B1B0D5, O60345, Q86TH1

UniProtKB/TrEMBL

B1B0D4
XM_054364286.1 → XP_054220261.1 ADAMTS-like protein 2 isoform X2

UniProtKB/TrEMBL

B1B0D4
XM_054364287.1 → XP_054220262.1 ADAMTS-like protein 2 isoform X3