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Tmbim1 Gene Detail
Summary
  • Symbol
    Tmbim1
  • Name
    transmembrane BAX inhibitor motif containing 1
  • Synonyms
    2310061B02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916910
    NCBI Gene: 69660
  • Gene Overview
    MyGene.info: TMBIM1
Location & Maps
more
  • Sequence Map
    Chr1:74288247-74305622 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17376 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 38.53 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TMBIM1, transmembrane BAX inhibitor motif containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TMBIM1, transmembrane BAX inhibitor motif containing 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    LFG3, MST100, MSTP100, PP1201, RECS1
  • Links
    NCBI Gene ID: 64114
    neXtProt AC: NX_Q969X1

  • Chr Location
    2q35; chr2:218274194-218292557 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    12 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.
  • All Mutations and Alleles
    17
  • Chemically induced (other)
    1
  • Gene trapped
    12
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Tmbim1
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age.
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 OTTMUSG00000021738 VEGA Gene Model | MGI Sequence Detail 17376 C57BL/6J ±  kb
transcript OTTMUST00000051568 VEGA | MGI Sequence Detail 2378 Not Applicable  
polypeptide OTTMUSP00000024302 VEGA | MGI Sequence Detail 309 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    82 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000029594 protein lifeguard 3
  • InterPro Domains
    IPR006214 Bax inhibitor 1-related
Molecular
Reagents
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  • All nucleic 15
    cDNA 15

    Microarray probesets 3
Other
Accession IDs
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MGI:2138482, MGI:2138674, MGI:2146371
References
more
  • Summaries
    All 31
    Developmental Gene Expression 1
    Gene Ontology 3
    Phenotypes 12
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory