ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS8provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 8provided by HGNC
Primary source: HGNC:HGNC:224
See related: Ensembl:ENSG00000134917 MIM:605175; AllianceGenome:HGNC:224
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: METH2; ADAM-TS8
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. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]
Expression: Biased expression in lung (RPKM 12.6), appendix (RPKM 7.0) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (130404923..130428609, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (130440731..130464423, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (130274818..130298504, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

HSFAS mediates fibroblast proliferation, migration, trans-differentiation and apoptosis in hypertrophic scars via interacting with ADAMTS8.
Title: HSFAS mediates fibroblast proliferation, migration, trans-differentiation and apoptosis in hypertrophic scars via interacting with ADAMTS8.
ADAMTS8 inhibits glioma development in vitro and in vivo.
Title: ADAMTS8 inhibits glioma development in vitro and in vivo.
The Prognostic Value of ADAMTS8 and Its Role as a Tumor Suppressor in Breast Cancer.
Title: The Prognostic Value of ADAMTS8 and Its Role as a Tumor Suppressor in Breast Cancer.
ADAMTS8 inhibited lung cancer progression through suppressing VEGFA.
Title: ADAMTS8 inhibited lung cancer progression through suppressing VEGFA.
Post-translational regulation and proteolytic activity of the metalloproteinase ADAMTS8.
Title: Post-translational regulation and proteolytic activity of the metalloproteinase ADAMTS8.
ADAMTS8 is frequently down-regulated in colorectal cancer and functions as a tumor suppressor.
Title: ADAMTS8 is frequently down-regulated in colorectal cancer and functions as a tumor suppressor.
Study revealed upregulation of ADAMTS8 and downregulation of FRAS1 and SOSTDC1 in primary fibroblasts from linear morphoea (LM) lesions. SOSTDC1 knock-down recapitulated the reduced TGF -beta1 responsiveness and LM fibroblast migration, while overexpression of ADAMTS 8 induced myofibroblast markers.
Title: Differential expression of secreted factors SOSTDC1 and ADAMTS8 cause profibrotic changes in linear morphoea fibroblasts.
The expression level of ADAMTS8 mRNA increased 3.5 fold in Hip Degenerative Arthritis group when compared with Femoral neck fractures group.
Title: The role of ADAMTS genes in the end stage of hip osteoarthritis.
This study showed that ADAMTS1, 8, and 18 are highly expressed in GC and its nodal metastases, suggesting important roles of these proteases in carcinogenesis and lymphatic metastasis. The findings from the present study indicate that these proteases may be promising candidates for novel and alternative treatments in GC (gastric cancer)
Title: Differentially regulated ADAMTS1, 8, and 18 in gastric adenocarcinoma.
ADAMTS8 hypermethylation is associated with decreased expression in gastric cancer.
Title: Downregulation of ADAMTS8 by DNA Hypermethylation in Gastric Cancer and Its Clinical Significance.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. 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

ADAMTS8_2450 (e-PCR)
- UniSTS:280432

D11S1009 (e-PCR)
- UniSTS:10675

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	TAS Traceable Author Statement more info	PubMed
enables low-affinity phosphate transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in inorganic anion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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: A disintegrin and metalloproteinase with thrombospondin motifs 8

Names: ADAMTS-8; METH-2; METH-8; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8

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_052870.1 RefSeqGene

Range

5385..29071

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007037.6 → NP_008968.4 A disintegrin and metalloproteinase with thrombospondin motifs 8 preproprotein

See identical proteins and their annotated locations for NP_008968.4

Status: REVIEWED

Source sequence(s)

AF060153, AP002986, BC089435, BX424609

Consensus CDS

CCDS41732.1

UniProtKB/Swiss-Prot

Q9NZS0, Q9UP79

UniProtKB/TrEMBL

Q5FWF1

Related

ENSP00000257359.6, ENST00000257359.7

Conserved Domains (6) summary

smart00209
Location:529 → 581

TSP1; Thrombospondin type 1 repeats

cd04273
Location:219 → 426

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:219 → 429

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:50 → 150

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:690 → 809

ADAM_spacer1; ADAM-TS Spacer 1

cl15456
Location:448 → 514

ADAM_CR; ADAM cysteine-rich