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Timm50 Gene Detail
Summary
  • Symbol
    Timm50
  • Name
    translocase of inner mitochondrial membrane 50
  • Synonyms
    2810403L02Rik, TIM50L
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913775
    NCBI Gene: 66525
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:28004941-28011497 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 16.67 cM, cytoband A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    195 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913775
 protein coding gene Chr7:28004941-28011517 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031938
 protein coding gene Chr7:27087462-27094015 (-)
A/J MGP_AJ_G0031917
 protein coding gene Chr7:26426741-26433294 (-)
AKR/J MGP_AKRJ_G0031848
 protein coding gene Chr7:27101096-27107652 (-)
BALB/cJ MGP_BALBcJ_G0031923
 protein coding gene Chr7:26587256-26593807 (-)
C3H/HeJ MGP_C3HHeJ_G0031645
 protein coding gene Chr7:27478735-27485289 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032388
 protein coding gene Chr7:27954825-27961381 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029440
 protein coding gene Chr7:27502763-27510267 (-)
CAST/EiJ MGP_CASTEiJ_G0030980
 protein coding gene Chr7:20779272-20788317 (-)
CBA/J MGP_CBAJ_G0031608
 protein coding gene Chr7:29204865-29211419 (-)
DBA/2J MGP_DBA2J_G0031761
 protein coding gene Chr7:26190198-26196754 (-)
FVB/NJ MGP_FVBNJ_G0031718
 protein coding gene Chr7:26258882-26265436 (-)
LP/J MGP_LPJ_G0031842
 protein coding gene Chr7:27406957-27413513 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031753
 protein coding gene Chr7:28715442-28721998 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032418
 protein coding gene Chr7:26587251-26593807 (-)
PWK/PhJ MGP_PWKPhJ_G0030703
 protein coding gene Chr7:21191151-21197701 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030538
 protein coding gene Chr7:17591191-17597964 (-)
WSB/EiJ MGP_WSBEiJ_G0031087
 protein coding gene Chr7:26916627-26923181 (-)



Homology
more
  • Human Ortholog
    TIMM50, translocase of inner mitochondrial membrane 50
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TIMM50, translocase of inner mitochondrial membrane 50
  • Synonyms
    MGCA9, TIM50, TIM50L
  • Links
    NCBI Gene ID: 92609
    neXtProt AC: NX_Q3ZCQ8
    UniProt: Q3ZCQ8

  • Chr Location
    19q13.2; chr19:39480412-39493785 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TIMM50 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
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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.
Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    7
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
non-membrane-bounded 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
    824
  • Tissues
    14
  • cDNA Data
    83
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000003438 Ensembl Gene Model | MGI Sequence Detail 6557 C57BL/6J ±  kb
    transcript ENSMUST00000081946 Ensembl | MGI Sequence Detail 1515 Not Applicable  
    polypeptide ENSMUSP00000080614 Ensembl | MGI Sequence Detail 353 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000016349 mitochondrial import inner membrane translocase subunit TIM50
      (term hierarchy)
    • InterPro Domains
      IPR004274 FCP1 homology domain
      IPR036412 HAD-like superfamily
      IPR023214 HAD superfamily
      IPR050365 Mitochondrial import inner membrane translocase subunit TIM50
    • GlyGen
      Q9D880 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 83
      cDNA 83

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2142111
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 2
      Gene Ontology 7
      Phenotypes 13
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • 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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory