ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS16provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 16provided by HGNC
Primary source: HGNC:HGNC:17108
See related: Ensembl:ENSG00000145536 MIM:607510; AllianceGenome:HGNC:17108
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: ADAMTS16s
Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]
Expression: Biased expression in ovary (RPKM 5.4), gall bladder (RPKM 4.3) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.32

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (5140330..5320304)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (5067964..5247892)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (5140443..5320417)

Chromosome 5 - NC_000005.10 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 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?

Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve With Raphe Formation.
Title: Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve With Raphe Formation.
Through a combination of sequencing studies on eighteen North Carolina macular dystrophy families, two novel overlapping duplications at the MCDR3 locus, in a gene desert downstream of IRX1 and upstream of ADAMTS16, have been reported.
Title: Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
ADAMTS16 is novel gene with cancer-specific promoter hypermethylation in colorectal cancer, lung cancer and oral squamous cell carcinoma patients implicating ADAMTS16 as potential biomarker for these tumors.
Title: Aberrant DNA methylation of ADAMTS16 in colorectal and other epithelial cancers.
The pregnancy loss rate seems to be affected by both ADAMTS-3 and ADAMTS-16.
Title: ADAMTS-3, -13, -16, and -19 levels in patients with habitual abortion.
Epistasis between single nucleotide polymorphisms within the TSHB and ADAMTS16 genes may increase the risk of premature ovarian failure in Korean women.
Title: Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure.
Data show that the expression of ADAMTS4, 9, 16 and was up-regulated during chondrogenesis, ADAMTS1 and 5 were down-regulated.
Title: Regulation of aggrecanases from the ADAMTS family and aggrecan neoepitope formation during in vitro chondrogenesis of human mesenchymal stem cells.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Results describe the distribution, regulation and function of human ADAMTS-16.
Title: Characterization and regulation of ADAMTS-16.
Blood pressure is associated with SNPs of ADAMTS16 in human.
Title: Positional identification of variants of Adamts16 linked to inherited hypertension.
These studies provide the first evidence that ADAMTS-16 is an active protease and suggest a physiological role of ADAMTS-16 in ovarian follicles, at least during the pre-ovulatory phase.
Title: FSH stimulates the expression of the ADAMTS-16 protease in mature human ovarian follicles.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan for breast cancer risk haplotypes among African American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. 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

G63174 (e-PCR)
- UniSTS:140291

G20661 (e-PCR)
- UniSTS:43542

A006A39 (e-PCR)
- UniSTS:43543

AFM198yb2 (e-PCR)
- UniSTS:72984

L28417 (e-PCR)
- UniSTS:9036

SHGC-83559 (e-PCR)
- UniSTS:101762

L31467 (e-PCR)
- UniSTS:32643

REN106716 (e-PCR)
- UniSTS:431513

D5S1921 (e-PCR)
- UniSTS:11988

G20614 (e-PCR)
- UniSTS:63459

A005Z07 (e-PCR)
- UniSTS:63460

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gamete generation	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 regulation of cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info

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: A disintegrin and metalloproteinase with thrombospondin motifs 16

Names: ADAM-TS 16; ADAM-TS16; ADAMTS-16; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16

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_139056.4 → NP_620687.2 A disintegrin and metalloproteinase with thrombospondin motifs 16 preproprotein

See identical proteins and their annotated locations for NP_620687.2

Status: REVIEWED

Source sequence(s)

AB095949, AC091978, BQ774377, DQ266047

Consensus CDS

CCDS43299.1

UniProtKB/Swiss-Prot

C6G490, Q8IVE2, Q8TE57

Related

ENSP00000274181.7, ENST00000274181.7

Conserved Domains (6) summary

smart00209
Location:589 → 641

TSP1; Thrombospondin type 1 repeats

cd04273
Location:290 → 491

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:292 → 495

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 204

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:746 → 858

ADAM_spacer1; ADAM-TS Spacer 1

pfam08686
Location:1190 → 1220

PLAC; PLAC (protease and lacunin) domain

RNA

NR_136935.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC091978, BQ774377, DQ266047

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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

5140330..5320304

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416874.1 → XP_047272830.1 A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X1
XM_047416875.1 → XP_047272831.1 A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X2

Related

ENST00000433402.2

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

5067964..5247892

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054351924.1 → XP_054207899.1 A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X1
XM_054351925.1 → XP_054207900.1 A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X2