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

Gene ID: 23359, updated on 29-Oct-2022

Summary

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

See ENTREP2 in Genome Data Viewer
Location:
15q13.1
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (29117712..29675409, complement)
110 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 golgin A6 family like 7 Neighboring gene ferritin light chain pseudogene 11 Neighboring gene amyloid beta precursor protein binding family A member 2 Neighboring gene DDB1 and CUL4 associated factor 6 pseudogene Neighboring gene NSE3 homolog, SMC5-SMC6 complex component Neighboring gene Sharpr-MPRA regulatory region 3573 Neighboring gene uncharacterized LOC105370743 Neighboring gene tubulin beta class I pseudogene 8 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Preferred Names
protein ENTREP2; protein FAM189A1
Names
family with sequence similarity 189 member A1
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_001387214.1NP_001374143.1  protein ENTREP2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC024474, AC061965, AC102941, AC107980
    Conserved Domains (2) summary
    PHA03247
    Location:226433
    PHA03247; large tegument protein UL36; Provisional
    pfam04103
    Location:34154
    CD20; CD20-like family
  2. NM_001387215.1NP_001374144.1  protein ENTREP2 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC022613, AC024474, AC061965, AC107980
    Conserved Domains (2) summary
    PHA03247
    Location:175382
    PHA03247; large tegument protein UL36; Provisional
    pfam04103
    Location:1103
    CD20; CD20-like family
  3. NM_001387216.1NP_001374145.1  protein ENTREP2 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC022613, AC024474, AC061965, AC107980
    Conserved Domains (2) summary
    PHA03247
    Location:175382
    PHA03247; large tegument protein UL36; Provisional
    pfam04103
    Location:1103
    CD20; CD20-like family
  4. NM_001387217.1NP_001374146.1  protein ENTREP2 isoform 5 precursor

    Status: VALIDATED

    Source sequence(s)
    AC022613, AC024474, AC061965, AC107980
    Conserved Domains (2) summary
    PHA03247
    Location:130337
    PHA03247; large tegument protein UL36; Provisional
    pfam04103
    Location:158
    CD20; CD20-like family
  5. NM_015307.2NP_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
    Related
    ENSP00000261275.4, ENST00000261275.5
    Conserved Domains (2) summary
    PHA03247
    Location:271478
    PHA03247; large tegument protein UL36; Provisional
    pfam04103
    Location:34199
    CD20; CD20-like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047432323.1XP_047288279.1  protein FAM189A1 isoform X2

  2. XM_011521407.3XP_011519709.2  protein FAM189A1 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)

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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

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