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RHBDF2 Gene

protein-coding   GIFtS: 54
GCID: GC17M074466

Rhomboid 5 Homolog 2 (Drosophila)

(Previous names: rhomboid, veinlet-like 6 (Drosophila), tylosis with oesophageal...)
(Previous symbols: RHBDL6, TOC)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rhomboid 5 Homolog 2 (Drosophila)1 2     RHBDL52 3
RHBDL61 2 3     iRhom22 3
TOC1 2 5     IRHOM23 5
Tylosis With Oesophageal Cancer1 2     Rhomboid, Veinlet-Like 6 (Drosophila)1
Rhomboid Family Member 22 3     TOCG2
Rhomboid Veinlet-Like Protein 52 3     Inactive Rhomboid Protein 22
Rhomboid Veinlet-Like Protein 62 3     Rhomboid 5 Homolog 23

External Ids:    HGNC: 207881   Entrez Gene: 796512   Ensembl: ENSG000001296677   OMIM: 6144045   UniProtKB: Q6PJF53   

Export aliases for RHBDF2 gene to outside databases

Previous GC identifers: GC17M071979 GC17M069894


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RHBDF2 Gene:
RHBDF2 (rhomboid 5 homolog 2 (Drosophila)) is a protein-coding gene. Diseases associated with RHBDF2 include tylosis with esophageal cancer, and esophageal cancer. GO annotations related to this gene include growth factor binding and serine-type endopeptidase activity. An important paralog of this gene is RHBDF1.

UniProtKB/Swiss-Prot: RHDF2_HUMAN, Q6PJF5
Function: Rhomboid protease-like protein which has no protease activity but regulates the secretion of several
ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor
signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity)

Gene Wiki entry for RHBDF2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RHBDF2 gene promoter:
         Bach1   STAT1   Sp1   p300   STAT1beta   STAT1alpha   HEN1   PPAR-gamma1   PPAR-gamma2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHBDF2 promoter sequence
   Search Chromatin IP Primers for RHBDF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RHBDF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.3

RHBDF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHBDF2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M074466:  view genomic region     (about GC identifiers)

Start:
74,466,973 bp from pter      End:
74,497,872 bp from pter
Size:
30,900 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RHDF2_HUMAN, Q6PJF5 (See protein sequence)
Recommended Name: Inactive rhomboid protein 2  
Size: 856 amino acids; 96686 Da
Subunit: Interacts with EGF (By similarity)
Sequence caution: Sequence=AAH35829.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB15310.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NEM3 A8K801 Q5U607 Q5YGQ8 Q9H6E9
Alternative splicing: 2 isoforms:  Q6PJF5-1   Q6PJF5-2   

Explore the universe of human proteins at neXtProt for RHBDF2: NX_Q6PJF5

Explore proteomics data for RHBDF2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys337
  • Modification sites at PhosphoSitePlus

  • See RHBDF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005498.2  NP_078875.4  

    ENSEMBL proteins: 
     ENSP00000322775   ENSP00000466867   ENSP00000467468   ENSP00000467549   ENSP00000465632  
     ENSP00000467677   ENSP00000464942   ENSP00000465531   ENSP00000466029   ENSP00000467971  
     ENSP00000464975   ENSP00000465990   ENSP00000465124   ENSP00000374410  

    RHBDF2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR022241 Rhomboid_SP
     IPR022764 Peptidase_S54_rhomboid_dom
     IPR002610 Peptidase_S54_rhomboid

    Graphical View of Domain Structure for InterPro Entry Q6PJF5

    ProtoNet protein and cluster: Q6PJF5

    1 Blocks protein domain: IPB002610 Rhomboid-like protein

    UniProtKB/Swiss-Prot: RHDF2_HUMAN, Q6PJF5
    Similarity: Belongs to the peptidase S54 family


    RHBDF2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RHDF2_HUMAN, Q6PJF5
    Function: Rhomboid protease-like protein which has no protease activity but regulates the secretion of several
    ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor
    signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0019838growth factor binding IEA--
         
    RHBDF2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rhbdf2):
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     other  reproductive system  skeleton 

    RHBDF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RHBDF2: Rhbdf2tm1Mak Rhbdf2tm1.1Mfm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RHBDF2
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    miRNA
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    miRTarBase miRNAs that target RHBDF2:
    hsa-mir-98-5p (MIRT027569), hsa-mir-7-5p (MIRT025648), hsa-mir-615-3p (MIRT039628), hsa-mir-335-5p (MIRT017408)

    Block miRNA regulation of human, mouse, rat RHBDF2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate RHBDF2:
    hsa-miR-186 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidRHBDF2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDF2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RHDF2_HUMAN, Q6PJF5: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane ISS--
    GO:0005886plasma membrane IDA--
    GO:0016021integral component of membrane IEA--

    RHBDF2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RHBDF2
    Interactions:

        Search GeneGlobe Interaction Network for RHBDF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for RHBDF2 (Q6PJF53 ENSP000003227754) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFP011333, ENSP000002651714I2D: score=1 STRING: ENSP00000265171
    MAPK1P284823I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    AMD1ENSP000003578804STRING: ENSP00000357880
    STX8ENSP000003052554STRING: ENSP00000305255
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0015031protein transport IEA--
    GO:0050709negative regulation of protein secretion ISS--

    RHBDF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RHBDF2 (RHDF2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RHBDF2 gene (2 alternative transcripts): 
    NM_001005498.3  NM_024599.5  

    Unigene Cluster for RHBDF2:

    Rhomboid 5 homolog 2 (Drosophila)
    Hs.464157  [show with all ESTs]
    Unigene Representative Sequence: NM_024599
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000590168 ENST00000313080(uc002jrq.2) ENST00000591885 ENST00000591860
    ENST00000589582 ENST00000587640 ENST00000592123 ENST00000592378 ENST00000585989
    ENST00000589526 ENST00000591697 ENST00000591879 ENST00000585701 ENST00000591192
    ENST00000590322 ENST00000590288 ENST00000591255 ENST00000593103
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate RHBDF2:
    hsa-miR-186 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidRHBDF2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): RHBDF2 (NM_024599)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RHBDF2
      QuantiTect SYBR Green Assays in human, mouse, rat RHBDF2
      QuantiFast Probe-based Assays in human, mouse, rat RHBDF2

    Additional mRNA sequence: 

    AK025994.1 AK225684.1 AK292135.1 AK292166.1 AY500247.1 BC016034.1 BC035829.1 

    9 DOTS entries:

    DT.312968  DT.102826448  DT.100023822  DT.97787408  DT.95262283  DT.91867105  DT.95262284  DT.97804853 
    DT.100805137 

    Selected AceView cDNA sequences (see all 94):

    AI379333 BQ008185 AW957974 AI333432 AW438811 BM801831 N47137 BQ224539 
    BQ941668 AI539624 BC016034 BQ214211 BG315099 BQ720915 AI435307 CO245402 
    NM_024599 AI539626 AI365443 AL833680 AI433769 BG661264 BF338099 AK074034 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RHBDF2 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a ·
    SP1:                    -     -                       -                                                                                                         
    SP2:                                                  -                 -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                    -     -                       -                 -                                                                                       
    SP5:                          -                       -                 -                                                                                       

    ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c · 21d
    SP1:                                            -                     
    SP2:                                            -                     
    SP3:                                            -                     
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for RHBDF2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RHBDF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTAAATAA
    RHBDF2 Expression
    About this image

    RHBDF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RHBDF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464157

    UniProtKB/Swiss-Prot: RHDF2_HUMAN, Q6PJF5
    Tissue specificity: Found in the epidermis and esophageal epithelium

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    QuantiFast Probe-based Assays in human, mouse, rat RHBDF2
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDF2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RHBDF2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhbdf21 , 5 rhomboid 5 homolog 2 (Drosophila)1, 5 88.24(n)1
    92.12(a)1
      11 (81.43 cM)5
    2173441  NM_001167680.11  NP_001161152.11 
     1165981655 
    chicken
    (Gallus gallus)
    Aves RHBDF21 rhomboid 5 homolog 2 (Drosophila) 77.71(n)
    78.4(a)
      417358  XM_415618.4  XP_415618.4 
    lizard
    (Anolis carolinensis)
    Reptilia RHBDF26
    rhomboid 5 homolog 2 (Drosophila)
    75(a)
    1 ↔ 1
    2(112098893-112172397)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rhbdf21 rhomboid 5 homolog 2 71.91(n)
    75.55(a)
      100036646  NM_001097204.1  NP_001090673.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-218l14.96
    si:ch211-218l14.9
    54(a)
    many ↔ many
    12(21579582-21655931) ENSDARG00000017367
    fruit fly
    (Drosophila melanogaster)
    Insecta rho-56
    rhomboid-5
    13(a)
    1 → many
    2L(10368025-10373900)
    worm
    (Caenorhabditis elegans)
    Secernentea rom-41 rom-4 50.23(n)
    42.82(a)
      3565076  NM_001047548.3  NP_001041013.2 


    ENSEMBL Gene Tree for RHBDF2 (if available)
    TreeFam Gene Tree for RHBDF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RHBDF2 gene
    RHBDF12  
    2 SIMAP similar genes for RHBDF2 using alignment to 11 protein entries:     RHDF2_HUMAN (see all proteins):
    FLJ00080    RHBDF1

    RHBDF2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RHBDF2 (see all 951)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0678284
    Tylosis with esophageal cancer (TOC)4--see VAR_0678282 P L mis40--------
    VAR_0678274
    Tylosis with esophageal cancer (TOC)4--see VAR_0678272 I T mis40--------
    rs580736811,2
    C--74467383(+) GGACC-/CTGGGA 2 -- ut310--------
    rs38330881,2
    C--74473593(+) CCCAGG/-CAGCT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1120669721,2
    C--74481634(+) CTGCA-/CTC   
       CAGGC
    CTCCA
    2 -- int11Minor allele frequency- CTCCAGGC:0.00CSA 2
    rs579029051,2
    C--74481640(+) TCCAG-/GCC   
       TCCAG
    CCTGG
    2 -- int11Minor allele frequency- GCCTCCAG:0.00NA 2
    rs1139595871,2
    C--74484584(+) TCAAAAAAC/-  
            
    AAACA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs724799181,2
    C--74484585(+) CAAAA-/AAAC  
            
    AACAA
    2 -- int1 us2k10--------
    rs711612991,2
    C--74484587(-) GTGGTTTTG/-  
            
    TTTGT
    2 -- int1 us2k11Minor allele frequency- -:0.00NA 2
    rs669419191,2
    C--74485791(+) CAGGA-/TTTAAG 2 -- int1 us2k11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for RHBDF2 (74466973 - 74497872 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RHBDF2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908831CNV Loss21882294
    nsv525148CNV Loss19592680
    nsv833549CNV Gain17160897

    Human Gene Mutation Database (HGMD): RHBDF2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RHBDF2
    DNA2.0 Custom Variant and Variant Library Synthesis for RHBDF2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614404   
    OMIM disorders: 148500  
    UniProtKB/Swiss-Prot: RHDF2_HUMAN, Q6PJF5
  • Tylosis with esophageal cancer (TOC) [MIM:148500]: An autosomal dominant syndrome characterized by
    diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for RHBDF2:    
    About MalaCards
    tylosis with esophageal cancer    esophageal cancer    palmoplantar keratosis    keratosis
    keratoderma    esophagitis    pneumonia    tuberculosis
    ovarian cancer    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for RHBDF2:
    Palmoplantar keratosis

    RHBDF2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RHBDF2
    Human Genome Epidemiology (HuGE) Navigator: RHBDF2 (3 documents)

    Export disorders for RHBDF2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for RHBDF2 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with RHBDF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. (PubMed id 22265016)1, 2, 3 Blaydon D.C.... Kelsell D.P. (Am. J. Hum. Genet. 2012)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    5. Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer. (PubMed id 22344671)1 Wojnarowicz P.M....Tonin P.N. (Int. J. Oncol. 2012)
    6. Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. (PubMed id 22638770)1 Saarinen S....Aaltonen L.A. (Fam. Cancer 2012)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 79651 HGNC: 20788 AceView: RHBDL6 Ensembl:ENSG00000129667 euGenes: HUgn79651
    ECgene: RHBDF2 H-InvDB: RHBDF2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RHBDF2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RHBDF2 gene:
    Search GeneIP for patents involving RHBDF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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