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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ROGDI Gene

protein-coding   GIFtS: 51
GCID: GC16M004846

Rogdi Homolog (Drosophila)

  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)
About This Section

Aliases
Rogdi Homolog (Drosophila)1 2
KTZS2
Leucine Zipper Domain Protein2
Protein Rogdi Homolog2

External Ids:    HGNC: 294781   Entrez Gene: 796412   Ensembl: ENSG000000678367   OMIM: 6145745   UniProtKB: Q9GZN73   

Export aliases for ROGDI gene to outside databases

Previous GC identifer: GC16M004787


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ROGDI Gene:
This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz
syndrome. Alternate splicing results in multiple transcript variants. (provided by RefSeq, Mar 2012)

GeneCards Summary for ROGDI Gene: 
ROGDI (rogdi homolog (Drosophila)) is a protein-coding gene. Diseases associated with ROGDI include kohlschutter tonz syndrome, and amelo-cerebro-hypohidrotic syndrome.

UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7
Function: May act as a positive regulator of cell proliferation (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ROGDI gene promoter:
         CBF-B   CBF-A   Tal-1   MyoD   Hand1   CP1A   NF-Y   CBF(2)   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidROGDI promoter sequence
   Search SABiosciences Chromatin IP Primers for ROGDI

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ROGDI


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M004846:  view genomic region     (about GC identifiers)

Start:
4,846,969 bp from pter      End:
4,852,951 bp from pter
Size:
5,983 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7 (See protein sequence)
Recommended Name: Protein rogdi homolog  
Size: 287 amino acids; 32254 Da
Subcellular location: Nucleus envelope
Secondary accessions: Q6IA00

Explore the universe of human proteins at neXtProt for ROGDI: NX_Q9GZN7

Explore proteomics data for ROGDI at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9GZN7

  • ROGDI Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ROGDI Protein Expression
    REFSEQ proteins: NP_078865.1  
    ENSEMBL proteins: 
     ENSP00000322832   ENSP00000465970   ENSP00000468343   ENSP00000466529   ENSP00000468334  
     ENSP00000465076   ENSP00000467509   ENSP00000467459   ENSP00000464699  

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    Cloud-Clone Corp. Proteins for ROGDI 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005635nuclear envelope IEA--

    ROGDI for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019386 Rogdi_leu_zipper-containing

    Graphical View of Domain Structure for InterPro Entry Q9GZN7

    ProtoNet protein and cluster: Q9GZN7

    UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7
    Similarity: Belongs to the rogdi family


    ROGDI 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ROGDI_HUMAN, Q9GZN7
    Function: May act as a positive regulator of cell proliferation (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for ROGDI:

     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ROGDI 
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    SwitchGear 3'UTR luciferase reporter plasmidROGDI 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ROGDI

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/9 Interacting proteins for ROGDI (Q9GZN72, 3 ENSP000003228324) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS6Q7L5N12, 3MINT-64595 I2D: score=5 
    KIAA1377Q9P2H02, 3MINT-64596 I2D: score=5 
    CALM1P621583I2D: score=3 
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0030097hemopoiesis IEA--

    ROGDI for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ROGDI

    Search CenterWatch for drugs/clinical trials and news about ROGDI

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ROGDI gene: 
    NM_024589.2  

    Unigene Cluster for ROGDI:

    Rogdi homolog (Drosophila)
    Hs.459795  [show with all ESTs]
    Unigene Representative Sequence: AK054707
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322048(uc002cxu.3 uc010bub.1 uc002cxv.3 uc002cxw.3 uc010uxu.2)
    ENST00000591292 ENST00000587843 ENST00000587377 ENST00000588201 ENST00000592019
    ENST00000586504 ENST00000591392 ENST00000587711 ENST00000586153 ENST00000586336
    ENST00000589543 ENST00000585653 ENST00000585871 ENST00000590198 ENST00000592112

    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ROGDI:
    hsa-miR-206 hsa-miR-613 hsa-miR-1 hsa-miR-299-3p
    SwitchGear 3'UTR luciferase reporter plasmidROGDI 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK026039.1 AK054707.1 AK098348.1 AK296334.1 AL136675.1 BC012901.2 BC113944.1 CR457355.1 
    CR533547.1 NR_046480.1 

    10 DOTS entries:

    DT.451734  DT.92443741  DT.95343377  DT.91882634  DT.95343385  DT.92443739  DT.120680375  DT.100796647 
    DT.86820161  DT.95343373 

    24/521 AceView cDNA sequences (see all 521):

    BQ068325 AA156866 BM142098 BU193709 AW615417 BQ720854 CK725160 CA429512 
    AI401496 BF972695 BQ424215 AA704633 AA156958 AI222506 AI336225 AA480226 
    R68334 BM696417 BM922788 BM671209 BU855659 CB139232 AA341472 BX331741 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ROGDI (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for ROGDI

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ROGDI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTCGGGGG
    ROGDI Expression
    About this image


    See ROGDI Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ROGDI

    SOURCE GeneReport for Unigene cluster: Hs.459795

    UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7
    Tissue specificity: Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also
    expressed in fetal brain and liver

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ROGDI gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rogdi1 , 5 rogdi homolog (Drosophila)1, 5 87.69(n)1
    94.43(a)1
      16 (2.49 cM)5
    660491  NM_133185.21  NP_573448.21 
     50087305 
    chicken
    (Gallus gallus)
    Aves ROGDI1 rogdi homolog (Drosophila) 73.89(n)
    81.12(a)
      426990  XM_424594.3  XP_424594.3 
    lizard
    (Anolis carolinensis)
    Reptilia ROGDI6
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343263.1(1329016-1342302)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.70552 Transcribed sequence with moderate similarity to protein more 79.45(n)    142034820 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj32e072 wufj32e07 75.45(n)   335642  BC045418.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rogdi1 CG7725-PA 54.62(n)
    44.98(a)
      39917  NM_168717.1  NP_730244.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H14A12.36
    Protein rogdi homolog
    23(a)
    1 ↔ 1
    III(7463838-7465238)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/319 SNPs in ROGDI are shown (see all 319)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1454365481,2
    --4782913(+) ACTTTC/GGGAGG 2 -- ds50010--------
    rs1476821941,2
    --4782940(+) ACGAGA/GTCAGG 2 -- ds50010--------
    rs564000141,2
    C--4782969(+) TTAACA/GTGGTG 2 -- ds50012Minor allele frequency- G:0.25NA 4
    rs1810110731,2
    --4783073(+) CACTTG/TAACCC 2 -- ds50010--------
    rs1445882651,2
    --4783189(+) AGTCCC/TAGGTA 2 -- ds50010--------
    rs791965611,2
    C,F--4783255(+) AGTAGG/ATTCTG 2 -- ds50011Minor allele frequency- A:0.07WA 118
    rs1851656201,2
    --4783279(+) CATGGC/GACAGG 2 -- ds50010--------
    rs99327061,2
    C,F,A,H--4783290(+) GAACGG/CGGAAG 2 -- ds50019Minor allele frequency- C:0.49WA NA CSA EA 370
    rs1457169401,2
    C--4783305(+) GCTCCA/GGGAAT 2 -- ds50010--------
    rs1491073931,2
    --4783342(+) CATGGA/CCACTG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ROGDI (4846969 - 4852951 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ROGDI:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422516CNV Deletion17116639
    nsv905251CNV Loss21882294
    nsv905248CNV Loss21882294
    nsv905250CNV Loss21882294
    dgv2589n71CNV Loss21882294
    esv26756CNV Gain+Loss19812545


    Human Gene Mutation Database (HGMD): ROGDI

    Locus Specific Mutation Databases (LSDB): ROGDI
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614574    OMIM disorders: --

    UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7
  • Kohlschuetter-Toenz syndrome (KTZS) [MIM:226750]: An autosomal recessive disorder characterized by severe
    global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting
    both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype
    is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the
    disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure
    onset, whereas others are delayed from birth. The most severely affected individuals have profound mental
    retardation, never acquire speech, and become bedridden early in life. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for ROGDI:    About MalaCards
    kohlschutter tonz syndrome    amelo-cerebro-hypohidrotic syndrome    focal epilepsy    amelogenesis imperfecta
    intellectual disability    spasticity    schizophrenia    mental retardation

    2 diseases from the University of Copenhagen DISEASES database for ROGDI:
    Amelogenesis imperfecta     Focal epilepsy

    ROGDI for disorders           About GeneDecksing


    Export disorders for ROGDI 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

    PubMed articles for ROGDI gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with ROGDI)
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    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    2. Mutations in ROGDI cause Kohlschutter-Tonz syndrome. (PubMed id 22424600)1, 2 Schossig A.... Zschocke J. (2012)
    3. A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. (PubMed id 22482807)1, 2 Mory A....Gershoni-Baruch R. (2012)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Kohlschutter-Tonz syndrome: mutations in ROGDI and evi dence of genetic heterogeneity. (PubMed id 23086778)1 Tucci A....Houlden H. (2013)
    6. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. (PubMed id 17043677)1 Camargo L.M....Brandon N.J. (2007)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79641 HGNC: 29478 AceView: FLJ22386andN-PAC Ensembl:ENSG00000067836 euGenes: HUgn79641
    ECgene: ROGDI H-InvDB: ROGDI

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ROGDI Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ROGDI gene:
    Search GeneIP for patents involving ROGDI

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