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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
  • Alliance
  • Transcription Start Sites
    24 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:134012663-134247121 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • 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
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109336
protein coding gene Chr6:134012663-134247121 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ETV6, ETS variant transcription factor 6
  • Synonyms
    TEL, TEL/ABL, THC5
  • Links
    NCBI Gene ID: 2120
    neXtProt AC: NX_P41212
    UniProt: P41212

  • Chr Location
    12p13.2; chr12:11649674-11895377 (+)  GRCh38

Human Diseases
more
  • Diseases
    7 with human ETV6 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
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
    61 phenotypes from 6 alleles in 9 genetic backgrounds
    10 phenotypes from multigenic genotypes
    28 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.
Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. Heterozygosity for the p.R355* mutation affects hematopoietic stem and precursor cell (HSPC) function and slows blood clotting.
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 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
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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
  • 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 ZRU/MplStud  
    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 91
      Developmental Gene Expression 24
      Diseases 2
      Gene Ontology 7
      Phenotypes 28
    • 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:346895 Guo P, et al., A methylation-phosphorylation switch controls EZH2 stability and hematopoiesis. Elife. 2024 Feb 12;13

    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)
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    last database update
    05/14/2024
    MGI 6.23
    The Jackson Laboratory