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    ENTREP2 endosomal transmembrane epsin interactor 2 [ Homo sapiens (human) ]

    Gene ID: 23359, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ENTREP2provided by HGNC
    Official Full Name
    endosomal transmembrane epsin interactor 2provided by HGNC
    Primary source
    HGNC:HGNC:29075
    See related
    Ensembl:ENSG00000104059 MIM:620052; AllianceGenome:HGNC:29075
    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
    TMEM228; FAM189A1
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 3.6), colon (RPKM 1.3) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENTREP2 in Genome Data Viewer
    Location:
    15q13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (29117712..29675409, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (26895232..27466166, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (29409915..29967613, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene PDCD6IP pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr15:29089626-29090172 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29093924-29094058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29105715-29106316 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29120363-29120984 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29120985-29121605 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29121606-29122226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29122227-29122847 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:29141496-29142056 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29144665-29144856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29147273-29147824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29145615-29146168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29146721-29147272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29148359-29148860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29148861-29149360 Neighboring gene golgin A6 family like 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29210321-29210843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29211011-29211600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29227603-29228102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29240656-29241156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29247089-29247588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29247601-29248114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29246587-29247088 Neighboring gene ferritin light chain pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29283117-29283618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29283619-29284118 Neighboring gene amyloid beta precursor protein binding family A member 2 Neighboring gene MPRA-validated peak2281 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29307813-29308019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29356146-29356657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29356658-29357170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29379537-29380038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29407365-29408165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29424556-29425172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29432077-29432890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29454119-29454628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29454629-29455137 Neighboring gene DDB1 and CUL4 associated factor 6 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:29561321-29561822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:29561823-29562322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9166 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:29611925-29612479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29637062-29638044 Neighboring gene NSE3 homolog, SMC5-SMC6 complex component Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29699994-29700185 Neighboring gene MPRA-validated peak2283 silencer Neighboring gene Sharpr-MPRA regulatory region 8593 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr15:29903026-29903716 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr15:29903717-29904407 Neighboring gene Sharpr-MPRA regulatory region 3573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29924029-29924548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29943839-29944339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29967552-29968082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29968083-29968613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29970293-29970793 Neighboring gene uncharacterized LOC105370743 Neighboring gene tubulin beta class I pseudogene 8 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:30010173-30011372 Neighboring gene lung cancer immune cell infiltration associated lncRNA Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 5 Neighboring gene tight junction protein 1

    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 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. Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. Murray SS, et al. PLoS One, 2012. PMID 22247754, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
    3. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ61121, KIAA0574

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein ENTREP2
    Names
    family with sequence similarity 189 member A1
    protein FAM189A1
    transmembrane protein 228

    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_001387214.1 → NP_001374143.1  protein ENTREP2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC024474, AC061965, AC102941, AC107980
      UniProtKB/TrEMBL
      A0A0G2JPM1
      Conserved Domains (2) summary
      PHA03247
      Location:226 → 433
      PHA03247; large tegument protein UL36; Provisional
      pfam04103
      Location:34 → 154
      CD20; CD20-like family

    2. NM_001387215.1 → NP_001374144.1  protein ENTREP2 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC022613, AC024474, AC061965, AC107980
      UniProtKB/TrEMBL
      A0A0G2JPM1
      Conserved Domains (2) summary
      PHA03247
      Location:175 → 382
      PHA03247; large tegument protein UL36; Provisional
      pfam04103
      Location:1 → 103
      CD20; CD20-like family

    3. NM_001387216.1 → NP_001374145.1  protein ENTREP2 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC022613, AC024474, AC061965, AC107980
      UniProtKB/TrEMBL
      A0A0G2JPM1
      Conserved Domains (2) summary
      PHA03247
      Location:175 → 382
      PHA03247; large tegument protein UL36; Provisional
      pfam04103
      Location:1 → 103
      CD20; CD20-like family

    4. NM_001387217.1 → NP_001374146.1  protein ENTREP2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC022613, AC024474, AC061965, AC107980
      Conserved Domains (2) summary
      PHA03247
      Location:130 → 337
      PHA03247; large tegument protein UL36; Provisional
      pfam04103
      Location:1 → 58
      CD20; CD20-like family

    5. NM_015307.2 → NP_056122.1  protein ENTREP2 isoform 1

      See identical proteins and their annotated locations for NP_056122.1

      Status: VALIDATED

      Source sequence(s)
      AC024474, AC061965, AC102941, AC107980
      Consensus CDS
      CCDS45198.1
      UniProtKB/Swiss-Prot
      A0PK09, O60320
      UniProtKB/TrEMBL
      A0A0G2JPM1
      Related
      ENSP00000261275.4, ENST00000261275.5
      Conserved Domains (2) summary
      PHA03247
      Location:271 → 478
      PHA03247; large tegument protein UL36; Provisional
      pfam04103
      Location:34 → 199
      CD20; CD20-like family

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      29117712..29675409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432323.1 → XP_047288279.1  protein ENTREP2 isoform X2

    2. XM_011521407.3 → XP_011519709.2  protein ENTREP2 isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      1280275..1847049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331747.1 → XP_054187722.1  protein ENTREP2 isoform X4

    2. XM_054331753.1 → XP_054187728.1  protein ENTREP2 isoform X9

    3. XM_054331752.1 → XP_054187727.1  protein ENTREP2 isoform X8

    4. XM_054331750.1 → XP_054187725.1  protein ENTREP2 isoform X6

    5. XM_054331746.1 → XP_054187721.1  protein ENTREP2 isoform X2

    6. XM_054331744.1 → XP_054187719.1  protein ENTREP2 isoform X3

    7. XM_054331748.1 → XP_054187723.1  protein ENTREP2 isoform X4

    8. XM_054331756.1 → XP_054187731.1  protein ENTREP2 isoform X11

    9. XM_054331755.1 → XP_054187730.1  protein ENTREP2 isoform X11

    10. XM_054331754.1 → XP_054187729.1  protein ENTREP2 isoform X10

    11. XM_054331757.1 → XP_054187732.1  protein ENTREP2 isoform X12

    12. XM_054331751.1 → XP_054187726.1  protein ENTREP2 isoform X7

    13. XM_054331745.1 → XP_054187720.1  protein ENTREP2 isoform X1

    14. XM_054331749.1 → XP_054187724.1  protein ENTREP2 isoform X5

    RNA

    1. XR_008485733.1 RNA Sequence

    2. XR_008485732.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1392759..1959533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330010.1 → XP_054185985.1  protein ENTREP2 isoform X4

    2. XM_054330016.1 → XP_054185991.1  protein ENTREP2 isoform X9

    3. XM_054330015.1 → XP_054185990.1  protein ENTREP2 isoform X8

    4. XM_054330013.1 → XP_054185988.1  protein ENTREP2 isoform X6

    5. XM_054330009.1 → XP_054185984.1  protein ENTREP2 isoform X2

    6. XM_054330007.1 → XP_054185982.1  protein ENTREP2 isoform X3

    7. XM_054330011.1 → XP_054185986.1  protein ENTREP2 isoform X4

    8. XM_054330019.1 → XP_054185994.1  protein ENTREP2 isoform X11

    9. XM_054330018.1 → XP_054185993.1  protein ENTREP2 isoform X11

    10. XM_054330017.1 → XP_054185992.1  protein ENTREP2 isoform X10

    11. XM_054330020.1 → XP_054185995.1  protein ENTREP2 isoform X12

    12. XM_054330014.1 → XP_054185989.1  protein ENTREP2 isoform X7

    13. XM_054330008.1 → XP_054185983.1  protein ENTREP2 isoform X1

    14. XM_054330012.1 → XP_054185987.1  protein ENTREP2 isoform X5

    RNA

    1. XR_008485667.1 RNA Sequence

    2. XR_008485666.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      26895232..27466166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377635.1 → XP_054233610.1  protein ENTREP2 isoform X20

    2. XM_054377634.1 → XP_054233609.1  protein ENTREP2 isoform X19

    3. XM_054377632.1 → XP_054233607.1  protein ENTREP2 isoform X17

    4. XM_054377629.1 → XP_054233604.1  protein ENTREP2 isoform X2

    5. XM_054377628.1 → XP_054233603.1  protein ENTREP2 isoform X14

    6. XM_054377626.1 → XP_054233601.1  protein ENTREP2 isoform X13

    7. XM_054377630.1 → XP_054233605.1  protein ENTREP2 isoform X15

    8. XM_054377638.1 → XP_054233613.1  protein ENTREP2 isoform X22

    9. XM_054377637.1 → XP_054233612.1  protein ENTREP2 isoform X22

    10. XM_054377636.1 → XP_054233611.1  protein ENTREP2 isoform X21

    11. XM_054377639.1 → XP_054233614.1  protein ENTREP2 isoform X23

    12. XM_054377633.1 → XP_054233608.1  protein ENTREP2 isoform X18

    13. XM_054377627.1 → XP_054233602.1  protein ENTREP2 isoform X1

    14. XM_054377631.1 → XP_054233606.1  protein ENTREP2 isoform X16

    RNA

    1. XR_008488933.1 RNA Sequence

    2. XR_008488932.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60320.4 GenPept UniProtKB/Swiss-Prot:O60320

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