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Timp3 Gene Detail
Summary
  • Symbol
    Timp3
  • Name
    tissue inhibitor of metalloproteinase 3
  • Synonyms
    Timp-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:98754
    NCBI Gene: 21859
  • Gene Overview
    MyGene.info: TIMP3
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:86300412-86349505 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 42.83 cM, cytoband C1-D1
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    448 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98754
protein coding gene Chr10:86300372-86349506 (.)
129S1/SvImJ MGP_129S1SvImJ_G0017610
protein coding gene Chr10:87258832-87309693 (+)
A/J MGP_AJ_G0017589
protein coding gene Chr10:84346736-84395957 (+)
AKR/J MGP_AKRJ_G0017549
protein coding gene Chr10:86705563-86755971 (+)
BALB/cJ MGP_BALBcJ_G0017552
protein coding gene Chr10:84573048-84622254 (+)
C3H/HeJ MGP_C3HHeJ_G0017375
protein coding gene Chr10:86733148-86783261 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018009
protein coding gene Chr10:90202983-90252212 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015693
protein coding gene Chr10:80173002-80222768 (+)
CAST/EiJ MGP_CASTEiJ_G0016941
protein coding gene Chr10:86606978-86655981 (+)
CBA/J MGP_CBAJ_G0017344
protein coding gene Chr10:93934920-93984835 (+)
DBA/2J MGP_DBA2J_G0017451
protein coding gene Chr10:83461385-83510615 (+)
FVB/NJ MGP_FVBNJ_G0017444
protein coding gene Chr10:82725779-82774810 (+)
LP/J MGP_LPJ_G0017523
protein coding gene Chr10:87925571-87976062 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017472
protein coding gene Chr10:95540598-95607291 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018046
protein coding gene Chr10:86585077-86635621 (+)
PWK/PhJ MGP_PWKPhJ_G0016722
protein coding gene Chr10:83469282-83518777 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016511
protein coding gene Chr10:85229246-85278413 (+)
WSB/EiJ MGP_WSBEiJ_G0016999
protein coding gene Chr10:86548065-86610139 (+)



Homology
more
  • Human Ortholog
    TIMP3, TIMP metallopeptidase inhibitor 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TIMP3, TIMP metallopeptidase inhibitor 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HSMRK222, K222, K222TA2, SFD
  • Links
    NCBI Gene ID: 7078
    neXtProt AC: NX_P35625
    UniProt: P35625

  • Chr Location
    22q12.3; chr22:32800816-32863041 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Timp3 mouse models; 1 with human TIMP3 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    75 phenotypes from 5 alleles in 9 genetic backgrounds
    8 phenotypes from multigenic genotypes
    67 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution. Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21859 NCBI Gene Model | MGI Sequence Detail 49094 C57BL/6J ±  kb
    transcript NM_011595 RefSeq | MGI Sequence Detail 4681 C57BL/6  
    polypeptide P39876 UniProt | EBI | MGI Sequence Detail 211 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 325
      Genomic 3
      cDNA 315
      Primer pair 5
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15112, MGD-MRK-15114
    References
    more
    • Summaries
      All 176
      Developmental Gene Expression 51
      Diseases 3
      Gene Ontology 9
      Phenotypes 67
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:263837 Dave JM, et al., Pericyte ALK5/TIMP3 Axis Contributes to Endothelial Morphogenesis in the Developing Brain. Dev Cell. 2018 Mar 26;44(6):665-678.e6

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory