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ETV6 ETS variant transcription factor 6 [ Homo sapiens (human) ]

Gene ID: 2120, updated on 5-May-2024

Summary

Official Symbol
ETV6provided by HGNC
Official Full Name
ETS variant transcription factor 6provided by HGNC
Primary source
HGNC:HGNC:3495
See related
Ensembl:ENSG00000139083 MIM:600618; AllianceGenome:HGNC:3495
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TEL; THC5; TEL/ABL
Summary
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
Expression
Ubiquitous expression in appendix (RPKM 7.0), bone marrow (RPKM 6.7) and 25 other tissues See more
Orthologs
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Genomic context

See ETV6 in Genome Data Viewer
Location:
12p13.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (11649674..11895377)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (11518944..11764496)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (11802608..12048311)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5966 Neighboring gene long intergenic non-protein coding RNA 1252 Neighboring gene RNA, U7 small nuclear 60 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:11744935-11745672 Neighboring gene Sharpr-MPRA regulatory region 654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:11761757-11762318 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:11762319-11762880 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:11762881-11763442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11819261-11819894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11819895-11820529 Neighboring gene uncharacterized LOC124902879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11947826-11948514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11948515-11949203 Neighboring gene Sharpr-MPRA regulatory region 735 Neighboring gene Sharpr-MPRA regulatory region 6497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5997 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:11991350-11992549 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12008095-12008671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12022641-12023141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12031171-12031968 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12038421-12039131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5998 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12080535-12080690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12102758-12103542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5999 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12111509-12112708 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12162287-12163167 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12161406-12162286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12163168-12164048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6007 Neighboring gene Sharpr-MPRA regulatory region 1566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12199831-12200330 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:12210407-12211072 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:12211073-12211736 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:12216444-12216992 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12222531-12222710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12225917-12226604 Neighboring gene Sharpr-MPRA regulatory region 14349 Neighboring gene Sharpr-MPRA regulatory region 8243 Neighboring gene BCL2 like 14 Neighboring gene microRNA 1244-4 Neighboring gene prothymosin alpha pseudogene 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-11)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2023-01-11)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transcription factor ETV6
Names
ETS-related protein Tel1
ETV6-RUNX1 fusion protein
TEL1 oncogene
ets variant gene 6 (TEL oncogene)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011443.1 RefSeqGene

    Range
    5001..250549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_609

mRNA and Protein(s)

  1. NM_001413913.1NP_001400842.1  transcription factor ETV6 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430
  2. NM_001413914.1NP_001400843.1  transcription factor ETV6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430
  3. NM_001413915.1NP_001400844.1  transcription factor ETV6 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358
  4. NM_001413916.1NP_001400845.1  transcription factor ETV6 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430
  5. NM_001413917.1NP_001400846.1  transcription factor ETV6 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430
    UniProtKB/TrEMBL
    A0A0S2Z3N6
  6. NM_001413918.1NP_001400847.1  transcription factor ETV6 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430
  7. NM_001987.5NP_001978.1  transcription factor ETV6 isoform 1

    See identical proteins and their annotated locations for NP_001978.1

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, BC043399, T79261
    Consensus CDS
    CCDS8643.1
    UniProtKB/Swiss-Prot
    A3QVP6, A8K076, P41212, Q9UMF6, Q9UMF7, Q9UMG0
    UniProtKB/TrEMBL
    A0A0S2Z3C9
    Related
    ENSP00000379658.3, ENST00000396373.9
    Conserved Domains (2) summary
    cd08535
    Location:56123
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:338424
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    11649674..11895377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428502.1XP_047284458.1  transcription factor ETV6 isoform X1

  2. XM_017018990.2XP_016874479.1  transcription factor ETV6 isoform X2

  3. XM_017018991.2XP_016874480.1  transcription factor ETV6 isoform X3

    Conserved Domains (2) summary
    smart00413
    Location:250336
    ETS; erythroblast transformation specific domain
    cl15755
    Location:135
    SAM_superfamily; SAM (Sterile alpha motif )
  4. XM_047428503.1XP_047284459.1  transcription factor ETV6 isoform X3

  5. XM_047428504.1XP_047284460.1  transcription factor ETV6 isoform X3

  6. XM_011520612.3XP_011518914.1  transcription factor ETV6 isoform X4

    Conserved Domains (1) summary
    smart00413
    Location:131217
    ETS; erythroblast transformation specific domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    11518944..11764496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)