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REPS2 RALBP1 associated Eps domain containing 2 [ Homo sapiens (human) ]

Gene ID: 9185, updated on 14-Aug-2022

Summary

Official Symbol
REPS2provided by HGNC
Official Full Name
RALBP1 associated Eps domain containing 2provided by HGNC
Primary source
HGNC:HGNC:9963
See related
Ensembl:ENSG00000169891 MIM:300317; AllianceGenome:HGNC:9963
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
POB1
Summary
The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 10.4), adrenal (RPKM 6.0) and 23 other tissues See more
Orthologs
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Genomic context

See REPS2 in Genome Data Viewer
Location:
Xp22.2
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (16946658..17196655)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (16529181..16735889)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (16964781..17171395)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SLC35C2 pseudogene 1 Neighboring gene CRISPRi-validated cis-regulatory element chrX.345 Neighboring gene small nucleolar RNA SNORA16B/SNORA16A family Neighboring gene chromobox 1 pseudogene 2 Neighboring gene uncharacterized LOC124905252 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 45 Neighboring gene chromobox 1 pseudogene 4 Neighboring gene small nucleolar RNA U13

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env The N36(L8)C34 region (amino acids 29-155) of HIV-1 gp41 binds the C-terminal region (amino acids 462-521; C60) of POB1 protein. The C60 peptide inhibits gp41-mediated membrane fusion and HIV-1 infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ralBP1-associated Eps domain-containing protein 2
Names
RALBP1-interacting protein 2
partner of Ral-binding protein 1
partner of RalBP1

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_012557.1 RefSeqGene

    Range
    4968..211582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080975.2NP_001074444.1  ralBP1-associated Eps domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001074444.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a protein (isoform 2) that is one aa shorter than isoform 1.
    Source sequence(s)
    AF010233, AF511533, AI221053, AL732371, AL929302
    Consensus CDS
    CCDS43919.1
    UniProtKB/Swiss-Prot
    Q8NFH8
    Related
    ENSP00000306033.7, ENST00000303843.7
    Conserved Domains (3) summary
    smart00027
    Location:274369
    EH; Eps15 homology domain
    cd00052
    Location:285351
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. NM_004726.3NP_004717.2  ralBP1-associated Eps domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_004717.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF010233, AI221053, AL732371, AL929302
    Consensus CDS
    CCDS14180.2
    UniProtKB/Swiss-Prot
    Q8NFH8, Q8NFI5
    Related
    ENSP00000349824.3, ENST00000357277.8
    Conserved Domains (3) summary
    smart00027
    Location:275370
    EH; Eps15 homology domain
    cd00052
    Location:286352
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    16946658..17196655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029956.3XP_016885445.1  ralBP1-associated Eps domain-containing protein 2 isoform X6

  2. XM_011545603.3XP_011543905.1  ralBP1-associated Eps domain-containing protein 2 isoform X1

    Conserved Domains (3) summary
    smart00027
    Location:275370
    EH; Eps15 homology domain
    cd00052
    Location:286352
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  3. XM_011545606.3XP_011543908.1  ralBP1-associated Eps domain-containing protein 2 isoform X8

    Conserved Domains (3) summary
    smart00027
    Location:275370
    EH; Eps15 homology domain
    cd00052
    Location:286352
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  4. XM_011545605.3XP_011543907.1  ralBP1-associated Eps domain-containing protein 2 isoform X3

    Conserved Domains (3) summary
    smart00027
    Location:275370
    EH; Eps15 homology domain
    cd00052
    Location:286352
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  5. XM_011545604.3XP_011543906.1  ralBP1-associated Eps domain-containing protein 2 isoform X2

    Conserved Domains (3) summary
    smart00027
    Location:274369
    EH; Eps15 homology domain
    cd00052
    Location:285351
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  6. XM_024452479.2XP_024308247.1  ralBP1-associated Eps domain-containing protein 2 isoform X9

    Conserved Domains (2) summary
    smart00027
    Location:274369
    EH; Eps15 homology domain
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  7. XM_017029955.2XP_016885444.1  ralBP1-associated Eps domain-containing protein 2 isoform X4

  8. XM_011545607.3XP_011543909.1  ralBP1-associated Eps domain-containing protein 2 isoform X13

    Conserved Domains (3) summary
    smart00027
    Location:183278
    EH; Eps15 homology domain
    cd00052
    Location:194260
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  9. XM_005274625.4XP_005274682.1  ralBP1-associated Eps domain-containing protein 2 isoform X10

    Conserved Domains (3) summary
    smart00027
    Location:275370
    EH; Eps15 homology domain
    cd00052
    Location:286352
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  10. XM_047442626.1XP_047298582.1  ralBP1-associated Eps domain-containing protein 2 isoform X5

  11. XM_017029958.2XP_016885447.1  ralBP1-associated Eps domain-containing protein 2 isoform X12

  12. XM_005274626.4XP_005274683.1  ralBP1-associated Eps domain-containing protein 2 isoform X11

    Conserved Domains (3) summary
    smart00027
    Location:274369
    EH; Eps15 homology domain
    cd00052
    Location:285351
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl08302
    Location:75121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  13. XM_047442627.1XP_047298583.1  ralBP1-associated Eps domain-containing protein 2 isoform X14

  14. XM_017029957.2XP_016885446.1  ralBP1-associated Eps domain-containing protein 2 isoform X7

  15. XM_047442628.1XP_047298584.1  ralBP1-associated Eps domain-containing protein 2 isoform X15

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    16529181..16735889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)