ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS20provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 20provided by HGNC
Primary source: HGNC:HGNC:17178
See related: Ensembl:ENSG00000173157 MIM:611681; AllianceGenome:HGNC:17178
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: GON-1; ADAM-TS20; ADAMTS-20
Summary: The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q12

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (43352763..43552203, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (43312136..43512777, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (43747669..43946006, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.
Title: Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.
CRISPR-Cas9 inactivation of ADAMTS9 impaired ciliogenesis in RPE-1 cells, which was restored by catalytically active ADAMTS9 or ADAMTS20 acting in trans, but not by their proteolytically inactive mutants.
Title: Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis.
In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans.
Title: Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
ADAMTS-9 and ADAMTS-20 have an identical modular structure, are distinct in possessing 15 thrombospondin type I repeats and a unique C-terminal domain, and have a similar gene structure
Title: Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1.
This protein is identified and characterized and its relation to other disintegrins and thrombospondin 1 repeats is examined.
Title: Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain.

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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

EBI GWAS Catalog

Description
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-79122 (e-PCR)
- UniSTS:95816

ADAMTS20__4252 (e-PCR)
- UniSTS:463532

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of signal transduction	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	TAS Traceable Author Statement more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 20

Names: a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20

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_028228.1 RefSeqGene

Range

4719..203056

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_025003.5 → NP_079279.3 A disintegrin and metalloproteinase with thrombospondin motifs 20 preproprotein

See identical proteins and their annotated locations for NP_079279.3

Status: REVIEWED

Source sequence(s)

AC090525, AC120104, AF488804, AJ515153, CN292892

Consensus CDS

CCDS31778.2

UniProtKB/Swiss-Prot

A6NNC9, J3QT00, P59510

Related

ENSP00000374071.3, ENST00000389420.8

Conserved Domains (7) summary

smart00209
Location:559 → 611

TSP1; Thrombospondin type 1 repeats

cd04273
Location:259 → 464

ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...

pfam01421
Location:259 → 467

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:64 → 185

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:721 → 840

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1714 → 1909

GON; GON domain

cl15278
Location:1482 → 1525

TSP_1; Thrombospondin type 1 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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

43352763..43552203 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538754.3 → XP_011537056.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X1

UniProtKB/Swiss-Prot

A6NNC9, J3QT00, P59510

Conserved Domains (7) summary

smart00209
Location:560 → 612

TSP1; Thrombospondin type 1 repeats

cd04273
Location:259 → 464

ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...

pfam01421
Location:259 → 467

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:64 → 185

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:722 → 841

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1715 → 1910

GON; GON domain

cl15278
Location:1483 → 1526

TSP_1; Thrombospondin type 1 domain
XM_017019979.2 → XP_016875468.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

Conserved Domains (3) summary

smart00209
Location:155 → 207

TSP1; Thrombospondin type 1 repeats

pfam05986
Location:317 → 436

ADAM_spacer1; ADAM-TS Spacer 1

cl00064
Location:4 → 59

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

43312136..43512777 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373256.1 → XP_054229231.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X1
XM_054373257.1 → XP_054229232.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_175851.1: Suppressed sequence

Description

NM_175851.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.