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Tardbp Gene Detail
Summary
  • Symbol
    Tardbp
  • Name
    TAR DNA binding protein
  • Synonyms
    1190002A23Rik, Tdp43, TDP-43
  • Feature Type
    protein coding gene
  • IDs
    MGI:2387629
    NCBI Gene: 230908
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:148696839-148711476 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 78.77 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    149 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2387629
 protein coding gene Chr4:148696839-148711672 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029129
 protein coding gene Chr4:152352514-152373828 (-)
A/J MGP_AJ_G0029094
 protein coding gene Chr4:146048046-146062550 (-)
AKR/J MGP_AKRJ_G0029042
 protein coding gene Chr4:150022141-150041361 (-)
BALB/cJ MGP_BALBcJ_G0029110
 protein coding gene Chr4:146549432-146563949 (-)
C3H/HeJ MGP_C3HHeJ_G0028831
 protein coding gene Chr4:150583314-150599850 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029559
 protein coding gene Chr4:157878724-157897439 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026805
 protein coding gene Chr4:138465683-138480129 (-)
CAST/EiJ MGP_CASTEiJ_G0028244
 protein coding gene Chr4:147790672-147807479 (-)
CBA/J MGP_CBAJ_G0028793
 protein coding gene Chr4:162477094-162492120 (-)
DBA/2J MGP_DBA2J_G0028942
 protein coding gene Chr4:146156387-146171271 (-)
FVB/NJ MGP_FVBNJ_G0028906
 protein coding gene Chr4:145244728-145259902 (-)
LP/J MGP_LPJ_G0029032
 protein coding gene Chr4:152307052-152324766 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028933
 protein coding gene Chr4:165774465-165791626 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029591
 protein coding gene Chr4:150518185-150532934 (-)
PWK/PhJ MGP_PWKPhJ_G0027964
 protein coding gene Chr4:142142947-142159235 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027798
 protein coding gene Chr4:144762725-144777355 (-)
WSB/EiJ MGP_WSBEiJ_G0028324
 protein coding gene Chr4:150677405-150692626 (-)



Homology
more
  • Human Ortholog
    TARDBP, TAR DNA binding protein
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TARDBP, TAR DNA binding protein
  • Synonyms
    ALS10, TDP-43
  • Links
    NCBI Gene ID: 23435
    neXtProt AC: NX_Q13148
    UniProt: Q13148

  • Chr Location
    1p36.22; chr1:11012344-11030528 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Tardbp mouse models; 4 with human TARDBP associations

Human Disease Mouse Models
      
IDs
 View 7 models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    122 phenotypes from 19 alleles in 21 genetic backgrounds
    9 phenotypes from multigenic genotypes
    1 images
    87 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 deficient mice display embryonic lethality before somite formation with impaired inner cell mass proliferation. Substitutions in RRM2 or low-complexity (LCD) domains affect mRNA splicing. Homozygosity for these mutations is embryonic lethal on B6 strain backgrounds. The LCD mutation leads to an adult-onset neuromuscular phenotype accompanied by motor neuron loss and neurodegenerative changes on B6-D2 background. Heterozygosity for p.N267S mutation affects neural stem cells and leads to neurological defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    67
  • GO References
    13
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
    1012
  • Tissues
    122
  • cDNA Data
    44
  • Literature Summary
    23
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041459 Ensembl Gene Model | MGI Sequence Detail 14638 C57BL/6J ±  kb
    transcript ENSMUST00000084125 Ensembl | MGI Sequence Detail 7477 Not Applicable  
    polypeptide ENSMUSP00000081142 Ensembl | MGI Sequence Detail 414 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 44
      Primer pair 5

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1916123, MGI:2140695
    References
    more
    • Summaries
      All 243
      Developmental Gene Expression 23
      Diseases 8
      Gene Ontology 13
      Phenotypes 87
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:357803 Torres P, et al., TDP-43 regulates LC3ylation in neural tissue through ATG4B cryptic splicing inhibition. Acta Neuropathol. 2024 Sep 21;148(1):45
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory