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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
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:134035700-134270158 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 64.58 cM, cytoband G2
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2699 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109336
 protein coding gene Chr6:134035700-134270158 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031402
 protein coding gene Chr6:138266432-138515440 (+)
A/J MGP_AJ_G0031378
 protein coding gene Chr6:132868236-133105539 (+)
AKR/J MGP_AKRJ_G0031305
 protein coding gene Chr6:136889136-137133108 (+)
BALB/cJ MGP_BALBcJ_G0031384
 protein coding gene Chr6:132676288-132912294 (+)
C3H/HeJ MGP_C3HHeJ_G0031106
 protein coding gene Chr6:136945763-137186529 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031844
 protein coding gene Chr6:142034421-142279389 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028976
 protein coding gene Chr6:132015289-132248680 (+)
CAST/EiJ MGP_CASTEiJ_G0030475
 protein coding gene Chr6:136302145-136583970 (+)
CBA/J MGP_CBAJ_G0031065
 protein coding gene Chr6:147329488-147593650 (+)
DBA/2J MGP_DBA2J_G0031223
 protein coding gene Chr6:131716853-131951286 (+)
FVB/NJ MGP_FVBNJ_G0031173
 protein coding gene Chr6:130632573-130870685 (+)
LP/J MGP_LPJ_G0031307
 protein coding gene Chr6:138386802-138632331 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031213
 protein coding gene Chr6:151422085-151665653 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031877
 protein coding gene Chr6:136629336-136871994 (+)
PWK/PhJ MGP_PWKPhJ_G0030200
 protein coding gene Chr6:130183126-130421774 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030024
 protein coding gene Chr6:134789878-135030727 (+)
WSB/EiJ MGP_WSBEiJ_G0030566
 protein coding gene Chr6:137248452-137502652 (+)



Homology
more
  • Human Ortholog
    ETV6, ETS variant transcription factor 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ETV6, ETS variant transcription factor 6
    Orthology source: HomoloGene, HGNC
  • 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
    Etv6
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
less
  • Phenotype Summary
    51 phenotypes from 7 alleles in 12 genetic backgrounds
    22 phenotypes from multigenic genotypes
    26 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
less
  • All GO Annotations
    23
  • GO References
    6
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 population 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
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
    935
  • Tissues
    250
  • cDNA Data
    151
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14011 NCBI Gene Model | MGI Sequence Detail 234459 C57BL/6J ±  kb
    transcript NM_001303102 RefSeq | MGI Sequence Detail 5707 C57BL/6  
    polypeptide P97360 UniProt | EBI | MGI Sequence Detail 485 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 160
      Genomic 1
      cDNA 154
      Primer pair 4
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-38381, MGI:2141650, MGI:2141710
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 22
      Diseases 2
      Gene Ontology 6
      Phenotypes 26
    • 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:265923 Lau CM, et al., Transcription factor Etv6 regulates functional differentiation of cross-presenting classical dendritic cells. J Exp Med. 2018 Sep 3;215(9):2265-2278
    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
    10/13/2020
    MGI 6.16     		The Jackson Laboratory