Aliases for RUFY2 Gene

Aliases for RUFY2 Gene

  • RUN And FYVE Domain Containing 2 2 3 5
  • RUN And FYVE Domain-Containing Protein 2 3 4
  • Rab4-Interacting Protein Related 3 4
  • RABIP4R 3 4
  • 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. Diseases associated with RUFY2 include Dyskeratosis Congenita, Autosomal Recessive 2. An important paralog of this gene is RUFY1.

Additional gene information for RUFY2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RUFY2 Gene

Genomics for RUFY2 Gene

GeneHancer (GH) Regulatory Elements for RUFY2 Gene

Promoters and enhancers for RUFY2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J068405 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 694 3.6 HNRNPK EP300 CTCF POLR2G GTF2E2 PHF8 ZFX ZIC2 REST ZBTB10 RUFY2 HNRNPH3 DNA2 DDX50 TET1 SIRT1 piR-32214-063
GH10J068598 Promoter/Enhancer 1.5 ENCODE CraniofacialAtlas 10.6 -193.2 -193202 3.9 FOXK2 ZBTB40 ZNF217 EP300 TCF12 MYC POLR2G SP1 GTF2E2 ZNF639 STOX1 KIFBP RUFY2 piR-56497-012 piR-50443-044 TET1
GH10J067763 Promoter/Enhancer 1.4 ENCODE CraniofacialAtlas 11.5 +642.9 642939 2.6 ZBTB40 ZNF217 EP300 ZSCAN5C TCF12 NRF1 USF1 NCOR1 FOS TEAD4 CTNNA3 TRS-TGA1-1 HNRNPH3 CCAR1 SIRT1 RUFY2 HERC4 TET1 lnc-DNAJC12-1
GH10J069347 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 13.6 -941.8 -941847 2.6 MXI1 FOS CEBPB SPI1 EP300 RCOR1 ZNF529 GATA2 ZFP36 POLR2A HK1 RUFY2 TET1 ENSG00000231748 ENSG00000260400 KIFBP RF00017-685 piR-50437-063
GH10J069303 Enhancer 0.8 Ensembl 13.6 -896.5 -896507 0.8 RBAK ZNF623 ZNF510 KLF7 ZEB1 MYNN NFIC ZBTB11 ZNF426 FOSL1 CCAR1 DDX50 HNRNPH3 SAR1A TYSND1 VPS26A KIFBP RUFY2 SUPV3L1 NPFFR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RUFY2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RUFY2 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • Elk-1
  • NCX
  • SRY

Genomic Locations for RUFY2 Gene

Genomic Locations for RUFY2 Gene
66,188 bases
Minus strand
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

    606 amino acids
    Molecular mass:
    70010 Da
    Quaternary structure:
    • Interacts with BMX.

    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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RUFY2 Gene

  • Zn-finger, FYVE type

Suggested Antigen Peptide Sequences for RUFY2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58796, highly similar to RUN and FYVE domain-containing protein 2 (B4DFR0_HUMAN)
  • Antigen MU-RMS-40.17 (Q5GIA6_HUMAN)
  • Rab4-interacting protein related (RUFY2_HUMAN)
genes like me logo Genes that share domains with RUFY2: view

No data available for Graphical View of Domain Structure and 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:0017124 SH3 domain binding IPI 11877430
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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
endosome 4
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RUFY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA,IDA 11877430
GO:0005768 endosome ISS 11877430
genes like me logo Genes that share ontologies with RUFY2: view

Pathways & Interactions for RUFY2 Gene

PathCards logo

SuperPathways for RUFY2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RUFY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0030100 regulation of endocytosis ISS 11877430
genes like me logo Genes that share ontologies with RUFY2: view

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

mRNA/cDNA for RUFY2 Gene

18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for RUFY2 Gene

GeneLoc Exon Structure for

Expression for RUFY2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RUFY2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RUFY2

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

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 31 30
  • 99.74 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 99 (a)
-- 31
  • 91 (a)
(Bos Taurus)
Mammalia RUFY2 31 30
  • 94.22 (n)
(Canis familiaris)
Mammalia RUFY2 31 30
  • 93.74 (n)
(Rattus norvegicus)
Mammalia Rufy2 30
  • 88.5 (n)
(Mus musculus)
Mammalia Rufy2 17 31 30
  • 86.96 (n)
(Monodelphis domestica)
Mammalia RUFY2 31
  • 76 (a)
(Gallus gallus)
Aves RUFY2 31 30
  • 81.68 (n)
(Anolis carolinensis)
Reptilia RUFY2 31
  • 81 (a)
(Danio rerio)
Actinopterygii rufy2 31 30
  • 71.31 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9356 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003431 30
  • 52.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31064 31 30
  • 51.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Evolutionary constrained regions (ECRs) for RUFY2: view image

Paralogs for RUFY2 Gene

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

  • H0YD93_HUMAN
  • Q5TC51_HUMAN
  • S4R3P2_HUMAN
genes like me logo Genes that share paralogs with RUFY2: view

Variants for RUFY2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RUFY2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11816774 - p.Cys573Ser

Additional dbSNP identifiers (rs#s) for RUFY2 Gene

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)

Additional Variant Information for RUFY2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for RUFY2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RUFY2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal recessive 2
  • dkcb2
- elite association - COSMIC cancer census association via MalaCards
Search RUFY2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RUFY2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RUFY2: view

No data available for 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 (The Journal of biological chemistry 2002) 2 3 4 54
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54

Products for RUFY2 Gene

Sources for RUFY2 Gene