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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
  • Alliance
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
  • 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: HGNC, HomoloGene
  • Synonyms
    TEL, TEL/ABL, THC5
  • Links
    NCBI Gene ID: 2120
    neXtProt AC: NX_P41212
    UniProt: P41212

  • Chr Location
    12p13.2; chr12:11649601-11895402 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 37560
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ETV6
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Etv6 mouse models; 1 with human ETV6 associations

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

  • Mutations/Alleles
    2 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
    23 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    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
    less
    • SNPs within 2kb
      2699 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 159
      Genomic 1
      cDNA 154
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-38381, MGI:2141650, MGI:2141710
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 22
      Diseases 2
      Gene Ontology 7
      Phenotypes 23
    • 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:254316 Phelep A, et al., MITF - A controls branching morphogenesis and nephron endowment. PLoS Genet. 2017 Dec;13(12):e1007093

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory