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

Gene ID: 23359, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 3.6), colon (RPKM 1.3) and 10 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (29117712..29675409, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (26895232..27466166, complement)
105.20220307 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
  • 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_2023_10

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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