ROGDI Gene
protein-coding GIFtS: 48
GCID: GC16M004846
|
|
rogdi homolog (Drosophila)
| |
Aliases
for ROGDI gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Rogdi Homolog (Drosophila)1 2 | | FLJ223861 | | KTZS2 | | Leucine Zipper Domain Protein2 | | Protein Rogdi Homolog2 |
Export aliases for ROGDI gene to outside databasesPrevious GC identifer: GC16M004787 |
Summaries
for ROGDI gene(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:
This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonzsyndrome. Alternate splicing results in multiple transcript variants. (provided by RefSeq, Mar 2012)
UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7Function: May act as a positive regulator of cell proliferation (By similarity)
|
Genomic Views
for ROGDI 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 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
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: 16p13.3ROGDI Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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minus strand |
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Proteins
for ROGDI gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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: Q6IA00Explore the universe of human proteins at neXtProt for ROGDI: NX_Q9GZN7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9GZN7
ROGDI Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_078865.1
ENSEMBL proteins: ENSP00000322832 ENSP00000465970 ENSP00000468343 ENSP00000466529 ENSP00000468334 ENSP00000465076 ENSP00000467509 ENSP00000467459 ENSP00000464699
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
IDA | -- | | GO:0005635 | nuclear envelope |
IEA | -- |
ROGDI for ontologies About GeneDecksing
ROGDI Antibody Products:
Assay Products for ROGDI: |
Protein
Domains /
Families
for ROGDI gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ROGDI for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9GZN7ProtoNet protein and cluster: Q9GZN7 UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7Similarity: Belongs to the rogdi family |
Function
for ROGDI gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7Function: May act as a positive regulator of cell proliferation (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ROGDI (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ROGDI
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: ROGDI (NM_024589) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ROGDI | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ROGDI |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROGDI |
1 GenomeRNAi human phenotype for ROGDI:
|
Pathways & Interactions
for ROGDI gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008284 | positive regulation of cell proliferation |
IEA | -- | | GO:0030097 | hemopoiesis |
IEA | -- |
ROGDI for ontologies About GeneDecksing
|
Drugs & Compounds
for ROGDI gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ROGDI
Search CenterWatch for drugs/clinical trials and news about ROGDI
|
Transcripts
for ROGDI gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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: AK05470716 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ROGDI (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ROGDI
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ROGDI (NM_024589) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ROGDI | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ROGDI |
Additional cDNA 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): AA480226 AI299980 CF127496 BM728680 AK098348 BQ641584 BM503391 CR621340 BG013932 BC071698 CR603174 AL046248 AK096730 BM672971 CR592312 AI130746 BM686793 BM709107 BM920948 AI276588 BM467995 BQ219706 AA765337 CK430984
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 |
|---|
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| SP1: | | | | | | | | | - | | - | | | | - | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | - | | - | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ROGDI
|
Expression
for ROGDI gene
(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
CGAP TAG: GTGTCGGGGG
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, Q9GZN7Tissue specificity: Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressedin fetal brain and liver
SABiosciences Custom PCR Arrays for ROGDI
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ROGDI
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROGDI |
Orthologs
for ROGDI gene
(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 7/19 species (see all 19) About this table
ENSEMBL Gene Tree for ROGDI (if available)
TreeFam Gene Tree for ROGDI (if available) |
Paralogs
for ROGDI gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ROGDI gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ROGDI (4846969 - 4852951 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ROGDI
2 CNVs: 5436 72441
Human Gene Mutation Database (HGMD): ROGDI
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ROGDI |
|
Disorders
/ Diseases
for ROGDI gene
(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
|
ROGDI for disorders About GeneDecksing
OMIM gene information: 614574
OMIM disorders: --
UniProtKB/Swiss-Prot: ROGDI_HUMAN, Q9GZN7
Defects in ROGDI are the cause of Kohlschuetter-Toenz syndrome (KTZS) [MIM:226750]. An autosomal recessivedisorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, andamelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of theteeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severityof seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal developmentuntil seizure onset, whereas others are delayed from birth. The most severely affected individuals have profoundmental retardation, never acquire speech, and become bedridden early in life
3  diseases for ROGDI: About MalaCardskohlschutter tonz syndrome amelogenesis imperfecta schizophrenia
2 diseases from the University of Copenhagen DISEASES database for ROGDI:Amelogenesis imperfecta Focal epilepsy Export disorders for ROGDI gene to outside databases
|
Publications
for ROGDI gene (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 12):
(articles sorted by number of sources associating them with ROGDI) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Mutations in ROGDI cause Kohlschutter-Tonz syndrome. (PubMed id 22424600)1, 2 Schossig A.... Zschocke J. (2012)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
- 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)
- From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for ROGDI gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ROGDI gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ROGDI gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ROGDI gene(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
|
| Name | Description |
| PharmGKB entry for ROGDI | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ROGDI gene:
Search GeneIP for patents involving ROGDI
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ROGDI gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ROGDI | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ROGDI | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ROGDI | | | OriGene Protein Over-expression Lysate for ROGDI | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ROGDI | | OriGene 3'-UTR Clone for ROGDI | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ROGDI | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ROGDI | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ROGDI | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ROGDI | | OriGene Custom Protein Services for ROGDI | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ROGDI | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ROGDI | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ROGDI | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ROGDI | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ROGDI | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ROGDI |
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