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    EVI2A ecotropic viral integration site 2A [ Homo sapiens (human) ]

    Gene ID: 2123, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EVI2Aprovided by HGNC
    Official Full Name
    ecotropic viral integration site 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:3499
    See related
    Ensembl:ENSG00000126860 MIM:158380; AllianceGenome:HGNC:3499
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EVDA; EVI2; EVI-2A
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 20.1), appendix (RPKM 18.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EVI2A in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (31316410..31321622, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32262087..32267297, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29643428..29648640, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene neurofibromin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12010 Neighboring gene ecotropic viral integration site 2B Neighboring gene oligodendrocyte myelin glycoprotein Neighboring gene NF1 intron 50 Alu-mediated recombination region Neighboring gene Sharpr-MPRA regulatory region 6872 Neighboring gene adenylate kinase 4 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29717908-29718497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29727239-29727740 Neighboring gene RAB11 family interacting protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29738471-29739436 Neighboring gene uncharacterized LOC124903977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29741367-29742330

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Increased expression of ecotropic viral integration site 2A indicates a poor prognosis and promotes osteosarcoma evolution through activating MEK/ERK pathway. Li S, et al. J Recept Signal Transduct Res, 2019 Aug. PMID 31774019
    2. The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. O'Connell P, et al. Genomics, 1990 Aug. PMID 2117565
    3. Prognostic Value of DNA Methylation-Driven Genes in Clear Cell Renal Cell Carcinoma: A Study Based on Methylation and Transcriptome Analyses. Hu M, et al. Dis Markers, 2020. PMID 32733620, Free PMC Article
    4. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Wallace MR, et al. Science, 1990 Jul 13. PMID 2134734
    5. Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Cawthon RM, et al. Genomics, 1990 Aug. PMID 2117566

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prognostic Value of DNA Methylation-Driven Genes in Clear Cell Renal Cell Carcinoma: A Study Based on Methylation and Transcriptome Analyses.
      Title: Prognostic Value of DNA Methylation-Driven Genes in Clear Cell Renal Cell Carcinoma: A Study Based on Methylation and Transcriptome Analyses.
    2. Increased expression of ecotropic viral integration site 2A promotes osteosarcoma evolution through activating MEK/ERK pathway.
      Title: Increased expression of ecotropic viral integration site 2A indicates a poor prognosis and promotes osteosarcoma evolution through activating MEK/ERK pathway.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ecotropic viral integration site 2A (EVI2A) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein EVI2A
    Names
    ecotropic viral integration site 2A protein homolog

    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.

    mRNA and Protein(s)

    1. NM_001003927.3 → NP_001003927.1  protein EVI2A isoform 1

      See identical proteins and their annotated locations for NP_001003927.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC134669, AK295311, CF135330
      Consensus CDS
      CCDS32608.1
      UniProtKB/Swiss-Prot
      P22794
      Related
      ENSP00000247270.3, ENST00000247270.3
      Conserved Domains (1) summary
      pfam05399
      Location:28 → 254
      EVI2A; Ectropic viral integration site 2A protein (EVI2A)

    2. NM_014210.4 → NP_055025.2  protein EVI2A isoform 2 precursor

      See identical proteins and their annotated locations for NP_055025.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC134669, AK312348, BC035572, CF135330
      Consensus CDS
      CCDS42293.1
      UniProtKB/Swiss-Prot
      B2R5X2, B4DHX8, P22794
      Related
      ENSP00000420557.3, ENST00000462804.3
      Conserved Domains (1) summary
      pfam05399
      Location:5 → 231
      EVI2A; Ectropic viral integration site 2A protein (EVI2A)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      31316410..31321622 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791803.1 Reference GRCh38.p14 PATCHES

      Range
      395564..400783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      32262087..32267297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22794.2 GenPept UniProtKB/Swiss-Prot:P22794

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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