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EI24 EI24 autophagy associated transmembrane protein [ Homo sapiens (human) ]

Gene ID: 9538, updated on 17-Dec-2024

Summary

Official Symbol
EI24provided by HGNC
Official Full Name
EI24 autophagy associated transmembrane proteinprovided by HGNC
Primary source
HGNC:HGNC:13276
See related
Ensembl:ENSG00000149547 MIM:605170; AllianceGenome:HGNC:13276
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
EPG4; PIG8; TP53I8
Summary
This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]
Expression
Ubiquitous expression in liver (RPKM 39.6), colon (RPKM 30.4) and 25 other tissues See more
Orthologs
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Genomic context

See EI24 in Genome Data Viewer
Location:
11q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125569477..125584684)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125598125..125613333)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125439373..125454579)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PBX/knotted 1 homeobox 2 Neighboring gene RNA, U6 small nuclear 321, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125181994-125182578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125211245-125211994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125219321-125219863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125220519-125221182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125221183-125221844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125239164-125240045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125241808-125242687 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:125278650-125279849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125296399-125296900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125298605-125299508 Neighboring gene Sharpr-MPRA regulatory region 8813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125314964-125315827 Neighboring gene Sharpr-MPRA regulatory region 13231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:125364213-125364716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365219-125365722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365723-125366224 Neighboring gene fasciculation and elongation protein zeta 1 Neighboring gene putative uncharacterized protein MGC39545 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5907 Neighboring gene Sharpr-MPRA regulatory region 4861 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5909 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125439037-125439538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5698 Neighboring gene STT3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1156, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125462019-125462613 Neighboring gene uncharacterized LOC118567325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5700 Neighboring gene STT3 oligosaccharyltransferase complex catalytic subunit A Neighboring gene checkpoint kinase 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus  
located_in cytosol  
is_active_in endoplasmic reticulum  
located_in endoplasmic reticulum  
located_in endoplasmic reticulum membrane  
located_in membrane PubMed 
located_in nuclear membrane  

General protein information

Preferred Names
etoposide-induced protein 2.4 homolog
Names
ectopic P-granules autophagy protein 4 homolog
etoposide induced 2.4
p53-induced gene 8 protein
tumor protein p53 inducible protein 8

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_032933.1 RefSeqGene

    Range
    5076..20283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290135.2NP_001277064.1  etoposide-induced protein 2.4 homolog isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK296620, BC002390, BG566671, DA680745, DB520736
    Consensus CDS
    CCDS76493.1
    UniProtKB/Swiss-Prot
    O14681
    Related
    ENSP00000479943.1, ENST00000534546.5
    Conserved Domains (1) summary
    pfam07264
    Location:106240
    EI24; Etoposide-induced protein 2.4 (EI24)
  2. NM_001330419.2NP_001317348.1  etoposide-induced protein 2.4 homolog isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate exon in the 3' coding region that results in a frame-shift compared to variant 1. The encoded isoform (4) is shorter than and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA313725, AP001494, BF770607, DA680745, HY010870, KF459674
    Consensus CDS
    CCDS81643.1
    UniProtKB/TrEMBL
    E9PK61
  3. NM_004879.5NP_004870.3  etoposide-induced protein 2.4 homolog isoform 1

    See identical proteins and their annotated locations for NP_004870.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC002390, BG566671, DA680745, DB520736
    Consensus CDS
    CCDS73410.1
    UniProtKB/Swiss-Prot
    A8K7D6, B4DKL6, O14681, Q9BUQ1
    Related
    ENSP00000278903.7, ENST00000278903.11
    Conserved Domains (1) summary
    pfam07264
    Location:120254
    EI24; Etoposide-induced protein 2.4 (EI24)

RNA

  1. NR_110769.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AB209820, AK301556, BG566671, DA680745, DB520736, DB567734
  2. NR_110770.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site at an internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AB209820, AK316539, BG566671, DA680745, DB520736, DB567734

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    125569477..125584684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543069.3XP_011541371.1  etoposide-induced protein 2.4 homolog isoform X1

    See identical proteins and their annotated locations for XP_011541371.1

    UniProtKB/Swiss-Prot
    A8K7D6, B4DKL6, O14681, Q9BUQ1
    Conserved Domains (1) summary
    pfam07264
    Location:120254
    EI24; Etoposide-induced protein 2.4 (EI24)
  2. XM_011543070.2XP_011541372.1  etoposide-induced protein 2.4 homolog isoform X2

    UniProtKB/TrEMBL
    E9PK61
    Related
    ENSP00000431633.3, ENST00000527235.6
    Conserved Domains (1) summary
    pfam07264
    Location:120222
    EI24; Etoposide-induced protein 2.4 (EI24)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    125598125..125613333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370557.1XP_054226532.1  etoposide-induced protein 2.4 homolog isoform X1

    UniProtKB/Swiss-Prot
    A8K7D6, B4DKL6, O14681, Q9BUQ1
  2. XM_054370558.1XP_054226533.1  etoposide-induced protein 2.4 homolog isoform X2

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