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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
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Genomic context

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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

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