Adamts6 Gene Detail

Summary

• Symbol
  Adamts6
• Name
  a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6
• Synonyms
  A930019D11Rik, ADAM-TS6, b2b1879.1Clo, b2b2029Clo, b2b2182Clo, b2b2187.1Clo, b2b2228Clo

• Feature Type
  protein coding gene
• IDs
  MGI:1347348
  NCBI Gene: 108154

Location & Maps

• Sequence Map
  Chr13:104287873-104494763 bp, + strand
• From Ensembl annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    206891 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 13, 56.42 cM
• Mapping Data
  1 experiment

Homology

• Human Ortholog
  ADAMTS6, ADAM metallopeptidase with thrombospondin type 1 motif 6

• Vertebrate Orthologs
  10

• Human Ortholog
  ADAMTS6, ADAM metallopeptidase with thrombospondin type 1 motif 6
  Orthology source: HomoloGene, HGNC
• Synonyms
  ADAM-TS6, ADAM-TS 6, ADAMTS-6
• Links
  HGNC:222

  NCBI Gene ID: 11174

  neXtProt AC: NX_Q9UKP5

  UniProt: Q9UKP5

  
  
• Chr Location
  5q12.3; chr5:65148736-65482014 (-)  GRCh38.p7

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• HomoloGene
  Vertebrate Homology Class 82573
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: ADAMTS6
• Gene Tree
  Adamts6
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  17 phenotypes from 9 alleles in 9 genetic backgrounds
  139 images
  5 phenotype references
  

• All Mutations and Alleles
  10
• Chemically induced (ENU)
  9
• Targeted
  1
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  35 strains or lines available

Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  4
• GO References
  1

• External Resources
  FuncBase

Expression

• Assay Results
  1
• Tissues
  1
• cDNA Data
  30
• Literature Summary
  2

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  GEISHA ADAMTS6
  ZFIN adamts6

Interactions

• Adamts6 interacts with 295 markers (Mir1a-1, Mir1a-2, Mir9-1, ...) View All

Sequences &
Gene Models

• All Sequences
  26
• RefSeq
  11
• UniProt
  2
• CCDS
  CCDS36773.1
• UniGene
  208125

• Ensembl
  ENSMUSG00000046169 (Evidence)
• NCBI Gene
  108154

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000046169	Ensembl Gene Model | MGI Sequence Detail	206891	C57BL/6J
transcript	ENSMUST00000065766	Ensembl | MGI Sequence Detail	4822	Not Applicable
polypeptide	ENSMUSP00000064570	Ensembl | MGI Sequence Detail	1117	Not Applicable

Polymorphisms

• SNPs within 2kb
  1539 from dbSNP Build 142

Protein
Information

• UniProt
  2 Sequences
• InterPro Domains
  IPR010294 ADAM-TS Spacer 1
  IPR024079 Metallopeptidase, catalytic domain
  IPR001590 Peptidase M12B, ADAM/reprolysin
  IPR013273 Peptidase M12B, ADAM-TS
  IPR002870 Peptidase M12B, propeptide
  IPR010909 PLAC
  IPR000884 Thrombospondin type-1 (TSP1) repeat

Molecular
Reagents

• All nucleic 32

  cDNA 30

  Primer pair 1

  Other 1

  
  

  Microarray probesets 3

Other
Accession IDs

MGI:2444985, MGI:5476177, MGI:5487285, MGI:5491167, MGI:5491169, MGI:5547739

References

• Summaries
  All 21

  Developmental Gene Expression 2

  Gene Ontology 1

  Phenotypes 5
• Earliest
  J:57247 Hurskainen TL, et al., ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family. J Biol Chem. 1999 Sep 3;274(36):25555-63
• Latest
  J:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103