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Adamts13 Gene Detail
Summary
  • Symbol
    Adamts13
  • Name
    ADAM metallopeptidase with thrombospondin type 1 motif 13
  • Synonyms
    LOC279028, vWF-CP mRNA for von Willebrand factor-cleaving
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685556
    NCBI Gene: 279028
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:26863428-26899640 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 19.14 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    930 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685556
 protein coding gene Chr2:26863363-26899640 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025505
 protein coding gene Chr2:24948281-24980190 (+)
A/J MGP_AJ_G0025482
 protein coding gene Chr2:24001818-24033480 (+)
AKR/J MGP_AKRJ_G0025452
 protein coding gene Chr2:24790994-24826578 (+)
BALB/cJ MGP_BALBcJ_G0025478
 protein coding gene Chr2:24119947-24153659 (+)
C3H/HeJ MGP_C3HHeJ_G0025239
 protein coding gene Chr2:24728995-24761192 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025922
 protein coding gene Chr2:25792938-25830001 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023333
 protein coding gene Chr2:22839449-22869125 (+)
CAST/EiJ MGP_CASTEiJ_G0024702
 protein coding gene Chr2:24606655-24636802 (+)
CBA/J MGP_CBAJ_G0025217
 protein coding gene Chr2:26693435-26723718 (+)
DBA/2J MGP_DBA2J_G0025350
 protein coding gene Chr2:23822393-23853285 (+)
FVB/NJ MGP_FVBNJ_G0025312
 protein coding gene Chr2:23575692-23610257 (+)
LP/J MGP_LPJ_G0025436
 protein coding gene Chr2:24894100-24925633 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025343
 protein coding gene Chr2:26742833-26772797 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025981
 protein coding gene Chr2:24726717-24763733 (+)
PWK/PhJ MGP_PWKPhJ_G0024450
 protein coding gene Chr2:23613283-23644385 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024250
 protein coding gene Chr2:24874329-24908739 (+)
WSB/EiJ MGP_WSBEiJ_G0024771
 protein coding gene Chr2:24846362-24877440 (+)



Homology
more
  • Human Ortholog
    ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13
  • Synonyms
    ADAM-TS13, ADAMTS-13, C9orf8, vWF-CP, VWFCP
  • Links
    NCBI Gene ID: 11093
    neXtProt AC: NX_Q76LX8
    UniProt: Q76LX8

  • Chr Location
    9q34.2; chr9:133414337-133459402 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ADAMTS13 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 4 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    55 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    707
  • Tissues
    1
  • cDNA Data
    3
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000014852 Ensembl Gene Model | MGI Sequence Detail 36213 C57BL/6J ±  kb
transcript ENSMUST00000102891 Ensembl | MGI Sequence Detail 4506 Not Applicable  
polypeptide ENSMUSP00000099955 Ensembl | MGI Sequence Detail 1426 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 4
    cDNA 3
    Primer pair 1

    Microarray probesets 1
References
more
  • Summaries
    All 83
    Developmental Gene Expression 1
    Gene Ontology 8
    Phenotypes 55
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory