This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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... See more...

Aliases for ADAMTS14 Gene

Aliases for ADAMTS14 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 14 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 14 2 3
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 14 3 4
  • EC 3.4.24.14 52
  • EC 3.4.24.82 52
  • EC 3.4.24.- 4
  • ADAM-TS 14 4
  • ADAM-TS14 4
  • ADAMTS-14 4
  • EC 3.4.24 52

External Ids for ADAMTS14 Gene

Previous GeneCards Identifiers for ADAMTS14 Gene

  • GC10P071167
  • GC10P071519
  • GC10P072324
  • GC10P071777
  • GC10P072102
  • GC10P072432
  • GC10P066426

Summaries for ADAMTS14 Gene

Entrez Gene Summary for ADAMTS14 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]

GeneCards Summary for ADAMTS14 Gene

ADAMTS14 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 14) is a Protein Coding gene. Diseases associated with ADAMTS14 include Tibialis Tendinitis and Patellar Tendinitis. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS3.

UniProtKB/Swiss-Prot Summary for ADAMTS14 Gene

  • Has aminoprocollagen type I processing activity in the absence of ADAMTS2 (PubMed:11741898). Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity (PubMed:11741898). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form (PubMed:31152061).

Additional gene information for ADAMTS14 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTS14 Gene

Genomics for ADAMTS14 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS14 Gene

Promoters and enhancers for ADAMTS14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS14 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTS14

Top Transcription factor binding sites by QIAGEN in the ADAMTS14 gene promoter:
  • AML1a
  • AP-2gamma
  • Bach2
  • CREB
  • deltaCREB
  • FOXD1
  • FOXF2
  • HEN1
  • STAT1

Genomic Locations for ADAMTS14 Gene

Genomic Locations for ADAMTS14 Gene
chr10:70,672,506-70,762,441
(GRCh38/hg38)
Size:
89,936 bases
Orientation:
Plus strand
chr10:72,432,559-72,522,197
(GRCh37/hg19)
Size:
89,639 bases
Orientation:
Plus strand

Genomic View for ADAMTS14 Gene

Genes around ADAMTS14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS14 Gene

Proteins for ADAMTS14 Gene

  • Protein details for ADAMTS14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXS8-ATS14_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 14
    Protein Accession:
    Q8WXS8
    Secondary Accessions:
    • Q5T4G0
    • Q5T4G1
    • Q8TE55
    • Q8TEY8

    Protein attributes for ADAMTS14 Gene

    Size:
    1223 amino acids
    Molecular mass:
    133888 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform A]: Produced by alternative promoter usage.
    • [Isoform B]: Produced by alternative promoter usage.
    • [Isoform C]: Produced by alternative splicing of isoform B.
    • [Isoform D]: Produced by alternative splicing of isoform A.

    Alternative splice isoforms for ADAMTS14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS14 Gene

Selected DME Specific Peptides for ADAMTS14 Gene

Q8WXS8:
  • CSQPVWVT
  • CFKGHCIW
  • MAPLVQAAFHR
  • SNCDGLAG
  • VCGGDNS
  • LNHEDGFSSAFV
  • TKYGCRR
  • EIYHDESLG
  • AHETGHVLGMEHDGQGN
  • CSRSCGGG
  • HETGHVLG
  • PCKQLWCSHPDNPYFCKTKKGPPLDGT
  • EQCRFDFG
  • DKCGVCGG
  • GYAPVTGMCHP
  • VHDGTRCSY

Post-translational modifications for ADAMTS14 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • Glycosylation at Asn109, Asn475, Asn941, Asn1027, and Ser1220
  • Modification sites at PhosphoSitePlus

Domains & Families for ADAMTS14 Gene

Gene Families for ADAMTS14 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ADAMTS14 Gene

Blocks:
  • Disintegrin
  • Metalloendopeptidase M12B
  • Thrombospondin, type I
  • Thrombospondin type 1 repeat signature
  • ADAM-TS Spacer 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ADAMTS14 Gene

GenScript: Design optimal peptide antigens:
  • A disintegrin and metalloproteinase with thrombospondin motifs 14 (ATS14_HUMAN)
  • ADAM metallopeptidase with thrombospondin type 1 motif, 14, isoform CRA_b (Q5T4G1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXS8

UniProtKB/Swiss-Prot:

ATS14_HUMAN :
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
Domain:
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
genes like me logo Genes that share domains with ADAMTS14: view

Function for ADAMTS14 Gene

Molecular function for ADAMTS14 Gene

UniProtKB/Swiss-Prot Function:
Has aminoprocollagen type I processing activity in the absence of ADAMTS2 (PubMed:11741898). Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity (PubMed:11741898). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form (PubMed:31152061).

Enzyme Numbers (IUBMB) for ADAMTS14 Gene

Phenotypes From GWAS Catalog for ADAMTS14 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTS14: view
genes like me logo Genes that share phenotypes with ADAMTS14: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTS14 Gene

Localization for ADAMTS14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS14 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTS14 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytosol 2
cytoskeleton 1
nucleus 1
golgi apparatus 1
mitochondrion 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for ADAMTS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with ADAMTS14: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS14 Gene

Pathways & Interactions for ADAMTS14 Gene

genes like me logo Genes that share pathways with ADAMTS14: view

Gene Ontology (GO) - Biological Process for ADAMTS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0030199 collagen fibril organization IEA --
GO:0030574 collagen catabolic process IEA --
genes like me logo Genes that share ontologies with ADAMTS14: view

No data available for SIGNOR curated interactions for ADAMTS14 Gene

Drugs & Compounds for ADAMTS14 Gene

No Compound Related Data Available

Transcripts for ADAMTS14 Gene

mRNA/cDNA for ADAMTS14 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
SP1: - - - - -
SP2: - - - -
SP3:
SP4:
SP5: -

ExUns: 22 ^ 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ADAMTS14 Gene

GeneLoc Exon Structure for
ADAMTS14

Expression for ADAMTS14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTS14 Gene

mRNA differential expression in normal tissues according to GTEx for ADAMTS14 Gene

This gene is overexpressed in Nerve - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for ADAMTS14 Gene

This gene is overexpressed in Heart (57.1) and Amniocyte (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS14 Gene



Protein tissue co-expression partners for ADAMTS14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTS14

SOURCE GeneReport for Unigene cluster for ADAMTS14 Gene:

Hs.352156

mRNA Expression by UniProt/SwissProt for ADAMTS14 Gene:

Q8WXS8-ATS14_HUMAN
Tissue specificity: Expressed in retina and at low levels in brain, lung and placenta (PubMed:11779638). High expression in fetal tissues (PubMed:11867212).

Evidence on tissue expression from TISSUES for ADAMTS14 Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with ADAMTS14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS14 Gene

Orthologs for ADAMTS14 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS14 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTS14 31 30
  • 87.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADAMTS14 31 30
  • 87.27 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adamts14 17 31 30
  • 82.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS14 31
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts14 30
  • 80.72 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS14 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS14 30
  • 73.2 (n)
SGPL1 31
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAMTS14 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts14 30
  • 66.79 (n)
zebrafish
(Danio rerio)
Actinopterygii ADAMTS14 31
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 32
  • 31 (a)
C37C3.6b 32
  • 31 (a)
T19D2.1 32
  • 27 (a)
Species where no ortholog for ADAMTS14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAMTS14 Gene

ENSEMBL:
Gene Tree for ADAMTS14 (if available)
TreeFam:
Gene Tree for ADAMTS14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTS14: view image

Paralogs for ADAMTS14 Gene

(2) SIMAP similar genes for ADAMTS14 Gene using alignment to 1 proteins:

  • ATS14_HUMAN
genes like me logo Genes that share paralogs with ADAMTS14: view

Variants for ADAMTS14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTS14 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
709700 Benign: not provided 70,708,781(+) G/A INTRON_VARIANT
747044 Likely Benign: not provided 70,702,313(+) C/T MISSENSE_VARIANT
747045 Likely Benign: not provided 70,708,691(+) C/T SYNONYMOUS_VARIANT
786164 Benign: not provided 70,674,989(+) C/T SYNONYMOUS_VARIANT
788428 Benign: not provided 70,708,643(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ADAMTS14 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS14 Gene

Variant ID Type Subtype PubMed ID
dgv1257n54 CNV loss 21841781
dgv1258n54 CNV loss 21841781
dgv1259n54 CNV loss 21841781
dgv1260n54 CNV loss 21841781
dgv1261n54 CNV loss 21841781
dgv153e199 CNV deletion 23128226
dgv160n67 CNV gain 20364138
dgv161n67 CNV loss 20364138
dgv162n67 CNV loss 20364138
esv24062 CNV loss 19812545
esv2738206 CNV deletion 23290073
esv29646 CNV gain+loss 19812545
esv32737 CNV gain+loss 17666407
esv3423969 CNV duplication 20981092
esv3546483 CNV deletion 23714750
esv3623768 CNV loss 21293372
nsv1043245 CNV loss 25217958
nsv1118176 CNV deletion 24896259
nsv467368 CNV loss 19166990
nsv467369 CNV loss 19166990
nsv514572 CNV gain+loss 21397061
nsv514573 CNV gain+loss 21397061
nsv517130 CNV gain+loss 19592680
nsv524058 CNV loss 19592680
nsv551493 CNV loss 21841781
nsv551494 CNV loss 21841781
nsv819483 CNV gain 19587683
nsv819639 CNV gain 19587683
nsv821367 CNV deletion 20802225
nsv825452 CNV gain 20364138
nsv825457 CNV loss 20364138
nsv831909 CNV loss 17160897

Variation tolerance for ADAMTS14 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.72; 96.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS14 Gene

Disorders for ADAMTS14 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADAMTS14 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tibialis tendinitis
patellar tendinitis
  • patellar tendonitis
osteoarthritis
  • kashin-beck disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAMTS14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS14 Gene

Publications for ADAMTS14 Gene

  1. Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family. (PMID: 11779638) Bolz H … Kubisch C (Biochimica et biophysica acta 2001) 2 3 4 23 54
  2. Genetic association between polymorphisms in the ADAMTS14 gene and multiple sclerosis. (PMID: 15913795) Goertsches R … Montalban X (Journal of neuroimmunology 2005) 3 23 41 54
  3. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PMID: 21254220) Jiang Y … Zhang H (Genetic epidemiology 2011) 3 41 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis. (PMID: 20378664) Sombekke MH … Uitdehaag BM (Multiple sclerosis (Houndmills, Basingstoke, England) 2010) 3 41 54

Products for ADAMTS14 Gene

Sources for ADAMTS14 Gene