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Aliases for RUFY2 Gene

Aliases for RUFY2 Gene

  • RUN And FYVE Domain Containing 2 2 3 5
  • Rab4-Interacting Protein Related 3 4
  • RABIP4R 3 4
  • RUN And FYVE Domain-Containing Protein 2 3
  • Run- And FYVE-Domain Containing Protein 3
  • Antigen MU-RMS-40.17 3
  • KIAA1537 4
  • ZFYVE13 3

External Ids for RUFY2 Gene

Previous GeneCards Identifiers for RUFY2 Gene

  • GC10M069186
  • GC10M069993
  • GC10M069445
  • GC10M069770
  • GC10M070100
  • GC10M064103

Summaries for RUFY2 Gene

GeneCards Summary for RUFY2 Gene

RUFY2 (RUN And FYVE Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is RUFY1.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUFY2 Gene

Genomics for RUFY2 Gene

Regulatory Elements for RUFY2 Gene

Enhancers for RUFY2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G068470 1.1 ENCODE 12 -64.1 -64064 2.5 HDGF PKNOX1 MLX CREB3L1 ZFP64 SIN3A ARID4B FEZF1 DMAP1 ZNF2 DNA2 RUFY2 SLC25A16 CCAR1 MIR1254-1 TET1 DDX50 ENSG00000260400 GC10P068471 RNA5SP319
GH10G067848 1.1 ENCODE 11.8 +557.5 557537 1.8 PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B SIRT1 RUFY2 TET1 ENSG00000260400 ENSG00000272892 GC10P067852
GH10G068144 0.7 dbSUPER 10.5 +260.4 260377 4.9 CTCF ZIC2 BRCA1 TCF12 ZFHX2 ZNF157 SCRT2 ZSCAN5C MAFK EGR2 MYPN HERC4 SIRT1 ATOH7 ENSG00000233590 RUFY2 RN7SKP202
GH10G068303 0.8 ENCODE 4.5 +101.6 101595 3.6 SOX13 ESRRA TAF1 ZNF133 MAX RAD21 RARA YY1 ZNF121 NCOR1 ENSG00000233590 SIRT1 ATOH7 PBLD HNRNPH3 CCAR1 DNA2 RUFY2 KRT19P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RUFY2 on UCSC Golden Path with GeneCards custom track

Promoters for RUFY2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029153 494 2001 HDGF PKNOX1 ARNT CREB3L1 AGO1 SIN3A DMAP1 ZNF2 ZNF143 ZNF207

Genomic Location for RUFY2 Gene

68,341,107 bp from pter
68,407,294 bp from pter
66,188 bases
Minus strand

Genomic View for RUFY2 Gene

Genes around RUFY2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUFY2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUFY2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUFY2 Gene

Proteins for RUFY2 Gene

  • Protein details for RUFY2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    RUN and FYVE domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • B3KXB2
    • B4DFR0
    • Q5TC48
    • Q8IW33
    • Q96P51
    • Q9P1Z1

    Protein attributes for RUFY2 Gene

    655 amino acids
    Molecular mass:
    75055 Da
    Quaternary structure:
    • Interacts with BMX.
    • Sequence=CAI17232.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for RUFY2 Gene


neXtProt entry for RUFY2 Gene

Post-translational modifications for RUFY2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RUFY2 Gene

Domains & Families for RUFY2 Gene

Gene Families for RUFY2 Gene

Protein Domains for RUFY2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RUFY2: view

No data available for UniProtKB/Swiss-Prot for RUFY2 Gene

Function for RUFY2 Gene

Gene Ontology (GO) - Molecular Function for RUFY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RUFY2: view
genes like me logo Genes that share phenotypes with RUFY2: view

Animal Model Products

CRISPR Products

miRNA for RUFY2 Gene

miRTarBase miRNAs that target RUFY2

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RUFY2 Gene

Localization for RUFY2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUFY2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RUFY2 gene
Compartment Confidence
nucleus 4
cytosol 3
mitochondrion 2
plasma membrane 1
extracellular 1
endosome 1

Gene Ontology (GO) - Cellular Components for RUFY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RUFY2: view

Pathways & Interactions for RUFY2 Gene

SuperPathways for RUFY2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RUFY2 Gene


No data available for Pathways by source and SIGNOR curated interactions for RUFY2 Gene

Drugs & Compounds for RUFY2 Gene

No Compound Related Data Available

Transcripts for RUFY2 Gene

Unigene Clusters for RUFY2 Gene

RUN and FYVE domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RUFY2 Gene

No ASD Table

Relevant External Links for RUFY2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RUFY2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RUFY2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RUFY2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for RUFY2 Gene

This gene is overexpressed in Bone (20.3), NK cells (16.5), and Pancreatic juice (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RUFY2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RUFY2 Gene:


SOURCE GeneReport for Unigene cluster for RUFY2 Gene:


mRNA Expression by UniProt/SwissProt for RUFY2 Gene:

Tissue specificity: Expressed in brain, lung and testis.

Evidence on tissue expression from TISSUES for RUFY2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with RUFY2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RUFY2 Gene

Orthologs for RUFY2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RUFY2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RUFY2 34 35
  • 99.74 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 99 (a)
-- 35
  • 91 (a)
(Bos Taurus)
Mammalia RUFY2 34 35
  • 94.22 (n)
(Canis familiaris)
Mammalia RUFY2 34 35
  • 93.74 (n)
(Rattus norvegicus)
Mammalia Rufy2 34
  • 88.5 (n)
(Mus musculus)
Mammalia Rufy2 34 16 35
  • 86.96 (n)
(Monodelphis domestica)
Mammalia RUFY2 35
  • 76 (a)
(Gallus gallus)
Aves RUFY2 34 35
  • 81.68 (n)
(Anolis carolinensis)
Reptilia RUFY2 35
  • 81 (a)
(Danio rerio)
Actinopterygii rufy2 34 35
  • 71.31 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9356 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003431 34
  • 52.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31064 34 35
  • 51.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
Species where no ortholog for RUFY2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RUFY2 Gene

Gene Tree for RUFY2 (if available)
Gene Tree for RUFY2 (if available)

Paralogs for RUFY2 Gene

Paralogs for RUFY2 Gene

(3) SIMAP similar genes for RUFY2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with RUFY2: view

Variants for RUFY2 Gene

Sequence variations from dbSNP and Humsavar for RUFY2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000104908 -- 68,402,539(+) CATAA(A/G)TTGTG intron-variant
rs1000151686 -- 68,343,839(+) GCAAG(C/T)CAGTC intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1000204789 -- 68,373,831(+) ACTTT(C/T)GGCTG intron-variant
rs1000219511 -- 68,390,965(+) AGTCT(C/T)GTTAC intron-variant
rs1000228767 -- 68,359,392(+) TATAC(A/G)TATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RUFY2 Gene

Variant ID Type Subtype PubMed ID
dgv919n100 CNV gain 25217958
esv2670140 CNV deletion 23128226
nsv1111038 CNV tandem duplication 24896259
nsv1127118 CNV deletion 24896259
nsv1137932 CNV deletion 24896259
nsv1145463 CNV deletion 24896259
nsv551434 CNV loss 21841781
nsv6988 CNV insertion 18451855
nsv950972 CNV duplication 24416366

Variation tolerance for RUFY2 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUFY2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUFY2 Gene

Disorders for RUFY2 Gene

Relevant External Links for RUFY2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for RUFY2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RUFY2 Gene

Publications for RUFY2 Gene

  1. Interaction between tyrosine kinase Etk and a RUN-domain and FYVE- domain containing protein RUFY1. A possible role of Etk in regulation of vesicle trafficking. (PMID: 11877430) Yang J. … Qiu Y. (J. Biol. Chem. 2002) 2 3 4 64
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64

Products for RUFY2 Gene

Sources for RUFY2 Gene

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