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Etv6 Gene Detail
Summary
  • Symbol
    Etv6
  • Name
    ets variant 6
  • Synonyms
    Tel, translocation-ets-leukemia
  • Feature Type
    protein coding gene
  • IDs
    MGI:109336
    NCBI Gene: 14011
  • Gene Overview
    MyGene.info: ETV6
Location & Maps
more
  • Sequence Map
    Chr6:134035700-134270158 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      234459 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 64.58 cM, cytoband G2
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    ETV6, ETS variant 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ETV6, ETS variant 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    TEL, TEL/ABL, THC5
  • Links
    NCBI Gene ID: 2120
    neXtProt AC: NX_P41212

  • Chr Location
    12p13; chr12:11649854-11895402 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 37560
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: ETV6
  • Gene Tree
    Etv6
Human Diseases
more
  • Diseases
    1 with Etv6 mouse models; 1 with human ETV6 associations

Human Disease Mouse Models
       Breast Cancer   OMIM: 114480 View 1 model
       Thrombocytopenia 5; THC5   OMIM: 616216
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 6 alleles in 11 genetic backgrounds
    22 phenotypes from multigenic genotypes
    21 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
    138
  • Gene trapped
    127
  • Targeted
    8
  • Transgenic
    3
  • Incidental Mutations
    Mutagenetix , APF
Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    20
  • GO References
    7
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
    294
  • Tissues
    245
  • cDNA Data
    150
  • Literature Summary
    18
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025993 VEGA Gene Model | MGI Sequence Detail 234459 C57BL/6J ±  kb
transcript OTTMUST00000064123 VEGA | MGI Sequence Detail 5545 Not Applicable  
polypeptide OTTMUSP00000031804 VEGA | MGI Sequence Detail 485 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2699 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 157
    Genomic 1
    cDNA 153
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-38381, MGI:2141650, MGI:2141710
References
more
  • Summaries
    All 69
    Developmental Gene Expression 18
    Diseases 2
    Gene Ontology 7
    Phenotypes 21
  • Earliest
    J:38299 Depatie C, et al., High-resolution linkage map in the proximity of the host resistance locus Cmv1. Genomics. 1997 Jan 15;39(2):154-63
  • Latest
    J:233076 Langlais D, et al., The macrophage IRF8/IRF1 regulome is required for protection against infections and is associated with chronic inflammation. J Exp Med. 2016 Apr 4;213(4):585-603
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory