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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
Location & Maps
more
  • Sequence Map
    Chr10:86300372-86349506 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      49135 bp   ±  kb flank

  • Genome Browsers
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

  • Chr Location
    22q12.3; chr22:32800816-32863041 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Sorsby Fundus Dystrophy; SFD   OMIM: 136900 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    73 phenotypes from 5 alleles in 9 genetic backgrounds
    8 phenotypes from multigenic genotypes
    57 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Targeted
    10
  • Genomic Mutations
    1 involving Timp3
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021184 VEGA Gene Model | MGI Sequence Detail 49135 C57BL/6J ±  kb
transcript OTTMUST00000050178 VEGA | MGI Sequence Detail 4722 Not Applicable  
polypeptide OTTMUSP00000023387 VEGA | MGI Sequence Detail 211 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    450 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000016354 metalloproteinase inhibitor 3
  • InterPro Domains
    IPR015612 Metalloproteinase inhibitor 3
    IPR001134 Netrin domain
    IPR001820 Protease inhibitor I35 (TIMP)
    IPR027465 Proteinase inhibitor I35b (TIMP), C-terminal
    IPR030490 Tissue inhibitor of metalloproteinase, conserved site
    IPR008993 Tissue inhibitor of metalloproteinases-like, OB-fold
Molecular
Reagents
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  • All nucleic 321
    Genomic 3
    cDNA 311
    Primer pair 5
    Other 2

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-15112, MGD-MRK-15114
References
more
  • Summaries
    All 141
    Developmental Gene Expression 45
    Diseases 1
    Gene Ontology 7
    Phenotypes 57
  • Earliest
    J:17020 Sun Y, et al., Molecular cloning of five messenger RNAs differentially expressed in preneoplastic or neoplastic JB6 mouse epidermal cells: one is homologous to human tissue inhibitor of metalloproteinases-3. Cancer Res. 1994 Mar 1;54(5):1139-44
  • Latest
    J:224431 Besschetnova TY, et al., Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis. Matrix Biol. 2015 Mar;42:56-73

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory