ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS9provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 9provided by HGNC
Primary source: HGNC:HGNC:13202
See related: Ensembl:ENSG00000163638 MIM:605421; AllianceGenome:HGNC:13202
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
Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
Expression: Broad expression in placenta (RPKM 16.1), endometrium (RPKM 10.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.1

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (64515654..64688000, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (64559268..64731664, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (64501330..64673676, complement)

Chromosome 3 - NC_000003.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA ADAMTS9-AS2 regulates periodontal ligament cell migration under mechanical compression via ADAMTS9/fibronectin.
Title: LncRNA ADAMTS9-AS2 regulates periodontal ligament cell migration under mechanical compression via ADAMTS9/fibronectin.
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.
Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
Title: Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
Differential gene expression of ADAMTS-1, ADAMTS-9 and TIMP-3 in periodontitis.
Title: Differential gene expression of ADAMTS-1, ADAMTS-9 and TIMP-3 in periodontitis.
LncRNA ADAMTS9-AS1 knockdown restricts cell proliferation and EMT in non-small cell lung cancer.
Title: LncRNA ADAMTS9-AS1 knockdown restricts cell proliferation and EMT in non-small cell lung cancer.
The use of pan-cancer analysis of ADAMTS9 expression in various cancer types.
Title: The use of pan-cancer analysis of ADAMTS9 expression in various cancer types.
DNMT3A-mediated silence in ADAMTS9 expression is restored by RNF180 to inhibit viability and motility in gastric cancer cells.
Title: DNMT3A-mediated silence in ADAMTS9 expression is restored by RNF180 to inhibit viability and motility in gastric cancer cells.
The utility of synovial fluid levels of ADAMTS9 and ADAMTS4 in predicting treatment responses to intraarticular steroid injections in patients with knee osteoarthritis
Title: The utility of synovial fluid levels of ADAMTS9 and ADAMTS4 in predicting treatment responses to intraarticular steroid injections in patients with knee osteoarthritis.
Association of Polymorphism rs67920064 in ADAMTS9 Gene with Mandibular Retrognathism in a Chinese Population.
Title: Association of Polymorphism rs67920064 in ADAMTS9 Gene with Mandibular Retrognathism in a Chinese Population.
Association Between Plasma ADAMTS-9 Levels and Severity of Coronary Artery Disease.
Title: Association Between Plasma ADAMTS-9 Levels and Severity of Coronary Artery Disease.

Submit: New GeneRIF Correction See all GeneRIFs (65)

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 association analysis of age-at-onset in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of liver enzymes in korean children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seven new loci associated with age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. 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-33668 (e-PCR)
- UniSTS:82983

RH80461 (e-PCR)
- UniSTS:90695

STS-T87804 (e-PCR)
- UniSTS:18291

SHGC-77053 (e-PCR)
- UniSTS:16245

RH102082 (e-PCR)
- UniSTS:96416

ADAMTS9_1430 (e-PCR)
- UniSTS:276971

ADAMTS9_v477 (e-PCR)
- UniSTS:276971

WI-17091 (e-PCR)
- UniSTS:80369

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cornea development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular matrix organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lens development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endothelial cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
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 space	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 9

Names: a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9

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_001318781.2 → NP_001305710.1 A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 4 which is shorter than isoform 1. This isoform (4) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AC096888, AC122178, AF488803, BC026271, BC171764

Consensus CDS

CCDS82801.1

UniProtKB/Swiss-Prot

Q9P2N4

Related

ENSP00000295903.4, ENST00000295903.8

Conserved Domains (6) summary

smart00209
Location:563 → 614

TSP1; Thrombospondin type 1 repeats

cd04273
Location:293 → 468

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:293 → 471

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:73 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:725 → 843

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1710 → 1906

GON; GON domain
NM_182920.2 → NP_891550.1 A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_891550.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB037733, AC122178, AF488803, BC026271, BC036770, BX482310, CD103111

Consensus CDS

CCDS2903.1

UniProtKB/Swiss-Prot

A1L4L0, B7ZVX9, B9ZVN0, Q9NR29, Q9P2N4

Related

ENSP00000418735.1, ENST00000498707.5

Conserved Domains (6) summary

smart00209
Location:591 → 642

TSP1; Thrombospondin type 1 repeats

cd04273
Location:293 → 496

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:293 → 499

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:73 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:753 → 871

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1738 → 1934

GON; GON 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_000003.12 Reference GRCh38.p14 Primary Assembly

Range

64515654..64688000 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_007095711.1 RNA Sequence
XR_245151.1 RNA Sequence
XR_007095712.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

64559268..64731664 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_008486756.1 RNA Sequence
XR_008486755.1 RNA Sequence
XR_008486757.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_020249.2: Suppressed sequence

Description

NM_020249.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
NM_182921.1: Suppressed sequence

Description

NM_182921.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.