Human Gene RUFY2 (ENST00000454950.6) Description and Page Index
  Description: Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 3, mRNA. (from RefSeq NM_001278225)
Gencode Transcript: ENST00000454950.6
Gencode Gene: ENSG00000204130.13
Transcript (Including UTRs)
   Position: hg38 chr10:68,377,194-68,407,294 Size: 30,101 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr10:68,378,562-68,407,189 Size: 28,628 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:68,377,194-68,407,294)mRNA (may differ from genome)Protein (379 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: RUFY2_HUMAN
DESCRIPTION: RecName: Full=RUN and FYVE domain-containing protein 2; AltName: Full=Rab4-interacting protein related;
SUBUNIT: Interacts with BMX.
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in brain, lung and testis.
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 1 RUN domain.
SEQUENCE CAUTION: Sequence=CAI17232.1; Type=Erroneous gene model prediction;

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.26 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 232.60 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 -52.60105-0.501 Picture PostScript Text
3' UTR -313.601368-0.229 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
  InterPro Domains: Graphical view of domain structure
IPR004012 - Run
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF01363 - FYVE zinc finger
PF02759 - RUN domain

ModBase Predicted Comparative 3D Structure on Q8WXA3
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
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0017124 SH3 domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0008150 biological_process
GO:0030100 regulation of endocytosis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005768 endosome


-  Descriptions from all associated GenBank mRNAs
  AK000925 - Homo sapiens cDNA FLJ10063 fis, clone HEMBA1001446.
AF461266 - Homo sapiens RUFY2 (RUFY2) mRNA, complete cds.
AB040970 - Homo sapiens mRNA for KIAA1537 protein, partial cds.
AK127019 - Homo sapiens cDNA FLJ45075 fis, clone BRAWH3027533, highly similar to RUN and FYVE domain-containing protein 2.
AK094214 - Homo sapiens cDNA FLJ36895 fis, clone BRACE2000965, weakly similar to Early endosome antigen 1, 162kD.
AF411980 - Homo sapiens Run- and FYVE-domain containing protein Rabip4R mRNA, complete cds.
AB384229 - Synthetic construct DNA, clone: pF1KSDA1537, Homo sapiens RUFY2 gene for RUN and FYVE domain-containing protein 2, complete cds, without stop codon, in Flexi system.
BC020659 - Homo sapiens cDNA clone IMAGE:4717881, containing frame-shift errors.
BC041092 - Homo sapiens RUN and FYVE domain containing 2, mRNA (cDNA clone MGC:46077 IMAGE:5731891), complete cds.
LF384642 - JP 2014500723-A/192145: Polycomb-Associated Non-Coding RNAs.
MA620219 - JP 2018138019-A/192145: Polycomb-Associated Non-Coding RNAs.
AK294211 - Homo sapiens cDNA FLJ58796 complete cds, highly similar to RUN and FYVE domain-containing protein 2.
HQ448515 - Synthetic construct Homo sapiens clone IMAGE:100071949; CCSB011211_01 RUN and FYVE domain containing 2 (RUFY2) gene, encodes complete protein.
KJ894233 - Synthetic construct Homo sapiens clone ccsbBroadEn_03627 RUFY2 gene, encodes complete protein.
LF322662 - JP 2014500723-A/130165: Polycomb-Associated Non-Coding RNAs.
MA558239 - JP 2018138019-A/130165: Polycomb-Associated Non-Coding RNAs.
AY528716 - Homo sapiens antigen MU-RMS-40.17 (RUFY2) mRNA, partial cds.
CU691950 - Synthetic construct Homo sapiens gateway clone IMAGE:100021176 5' read RUFY2 mRNA.
BC062660 - Homo sapiens RUN and FYVE domain containing 2, mRNA (cDNA clone IMAGE:6716008).
LF322660 - JP 2014500723-A/130163: Polycomb-Associated Non-Coding RNAs.
MA558237 - JP 2018138019-A/130163: Polycomb-Associated Non-Coding RNAs.
LF322659 - JP 2014500723-A/130162: Polycomb-Associated Non-Coding RNAs.
MA558236 - JP 2018138019-A/130162: Polycomb-Associated Non-Coding RNAs.
LF322657 - JP 2014500723-A/130160: Polycomb-Associated Non-Coding RNAs.
MA558234 - JP 2018138019-A/130160: Polycomb-Associated Non-Coding RNAs.
LF322656 - JP 2014500723-A/130159: Polycomb-Associated Non-Coding RNAs.
MA558233 - JP 2018138019-A/130159: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KXB2, KIAA1537, NM_001278225, Q5TC48, Q8IW33, Q8WXA3, Q96P51, Q9P1Z1, RABIP4R, RUFY2_HUMAN, uc010qiw.1, uc010qiw.2, uc010qiw.3
UCSC ID: uc010qiw.3
RefSeq Accession: NM_001278225
Protein: Q8WXA3 (aka RUFY2_HUMAN)
CCDS: CCDS60544.1

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