Human Gene REPS2 (uc004cxw.1)
  Description: Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 2, mRNA.
RefSeq Summary (NM_001080975): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:16,964,814-17,171,403 Size: 206,590 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chrX:16,964,985-17,165,604 Size: 200,620 Coding Exon Count: 18 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:16,964,814-17,171,403)mRNA (may differ from genome)Protein (659 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: REPS2
Diseases sorted by gene-association score: nance-horan syndrome (7), prostate cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.34 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 187.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.90171-0.549 Picture PostScript Text
3' UTR -1679.265799-0.290 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF12763 - Cytoskeletal-regulatory complex EF hand

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on Q8NFH8-4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  AF010233 - Homo sapiens RalBP1-interacting protein (POB1) mRNA, complete cds.
AF511533 - Homo sapiens RALBP1 associated Eps domain containing protein 2a (REPS2) mRNA, complete cds.
AF512951 - Homo sapiens RALBP1 associated Eps domain containing protein 2b (REPS2) mRNA, complete cds.
AK298913 - Homo sapiens cDNA FLJ60806 complete cds, highly similar to RalBP1-associated Eps domain-containing protein 2.
AB208937 - Homo sapiens mRNA for RalBP1 associated Eps domain containing protein 2 variant protein.
AK097484 - Homo sapiens cDNA FLJ40165 fis, clone TESTI2015962.
LF326319 - JP 2014500723-A/133822: Polycomb-Associated Non-Coding RNAs.
JD173379 - Sequence 154403 from Patent EP1572962.
JD057024 - Sequence 38048 from Patent EP1572962.
JD462439 - Sequence 443463 from Patent EP1572962.
JD125254 - Sequence 106278 from Patent EP1572962.
JD474826 - Sequence 455850 from Patent EP1572962.
JD162420 - Sequence 143444 from Patent EP1572962.
JD452340 - Sequence 433364 from Patent EP1572962.
JD142163 - Sequence 123187 from Patent EP1572962.
MA561896 - JP 2018138019-A/133822: Polycomb-Associated Non-Coding RNAs.
AK057127 - Homo sapiens cDNA FLJ32565 fis, clone SPLEN2000020.
JD495503 - Sequence 476527 from Patent EP1572962.
JD364403 - Sequence 345427 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NFH8 (Reactome details) participates in the following event(s):

R-HSA-8866279 Epsin family proteins bind ubiquitinated cargo
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001080975, NP_001074444, POB1, Q8NFH8-4
UCSC ID: uc004cxw.1
RefSeq Accession: NM_001080975
Protein: Q8NFH8-4, splice isoform of Q8NFH8 CCDS: CCDS14180.2, CCDS43919.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001080975.1
exon count: 18CDS single in 3' UTR: no RNA size: 7961
ORF size: 1980CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2990.00frame shift in genome: no % Coverage: 99.86
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.