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Aliases for ROGDI Gene

Aliases for ROGDI Gene

  • Rogdi Homolog 2 3 5
  • Leucine Zipper Domain Protein 3
  • Rogdi Homolog (Drosophila) 2
  • Protein Rogdi Homolog 3
  • KTZS 3

External Ids for ROGDI Gene

Previous GeneCards Identifiers for ROGDI Gene

  • GC16M004787
  • GC16M004846

Summaries for ROGDI Gene

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) is a Protein Coding gene. Diseases associated with ROGDI include Kohlschutter-Tonz Syndrome and Complex Partial Epilepsy.

UniProtKB/Swiss-Prot for ROGDI Gene

  • May act as a positive regulator of cell proliferation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ROGDI Gene

Genomics for ROGDI Gene

Regulatory Elements for ROGDI Gene

Enhancers for ROGDI 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around ROGDI on UCSC Golden Path with GeneCards custom track

Promoters for ROGDI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ROGDI Gene

4,796,962 bp from pter
4,802,950 bp from pter
5,989 bases
Minus strand

Genomic View for ROGDI Gene

Genes around ROGDI on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ROGDI Gene

Proteins for ROGDI Gene

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

    Protein Symbol:
    Recommended name:
    Protein rogdi homolog
    Protein Accession:
    Secondary Accessions:
    • Q6IA00

    Protein attributes for ROGDI Gene

    287 amino acids
    Molecular mass:
    32254 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ROGDI Gene

Post-translational modifications for ROGDI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ROGDI Gene

Domains & Families for ROGDI Gene

Protein Domains for ROGDI Gene


Suggested Antigen Peptide Sequences for ROGDI Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the rogdi family.
  • Belongs to the rogdi family.
genes like me logo Genes that share domains with ROGDI: view

No data available for Gene Families for ROGDI Gene

Function for ROGDI Gene

Molecular function for ROGDI Gene

UniProtKB/Swiss-Prot Function:
May act as a positive regulator of cell proliferation.
genes like me logo Genes that share phenotypes with ROGDI: view

Human Phenotype Ontology for ROGDI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ROGDI Gene

miRTarBase miRNAs that target ROGDI

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ROGDI Gene

Localization for ROGDI Gene

Subcellular locations from UniProtKB/Swiss-Prot for ROGDI Gene

Nucleus envelope.

Subcellular locations from

Jensen Localization Image for ROGDI Gene COMPARTMENTS Subcellular localization image for ROGDI gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ROGDI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005635 nuclear envelope IDA 22482807
genes like me logo Genes that share ontologies with ROGDI: view

Pathways & Interactions for ROGDI Gene

SuperPathways for ROGDI Gene

No Data Available

Interacting Proteins for ROGDI Gene

Gene Ontology (GO) - Biological Process for ROGDI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IMP 25565929
GO:0008284 positive regulation of cell proliferation IEA --
GO:0022008 neurogenesis IMP 22482807
GO:0030097 hemopoiesis IEA --
GO:0042475 odontogenesis of dentin-containing tooth IMP 25565929
genes like me logo Genes that share ontologies with ROGDI: view

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

Drugs & Compounds for ROGDI Gene

No Compound Related Data Available

Transcripts for ROGDI Gene

Unigene Clusters for ROGDI Gene

Rogdi homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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: - - -
SP6: - - -
SP7: - -
SP8: - - - - - -

Relevant External Links for ROGDI Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ROGDI Gene

mRNA expression in normal human tissues for ROGDI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ROGDI Gene

This gene is overexpressed in Brain (43.4) and Frontal cortex (7.8).

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

Protein tissue co-expression partners for ROGDI Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ROGDI Gene:


SOURCE GeneReport for Unigene cluster for ROGDI Gene:


mRNA Expression by UniProt/SwissProt for ROGDI Gene:

Tissue specificity: Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver.
genes like me logo Genes that share expression patterns with ROGDI: view

Primer Products

No data available for mRNA differential expression in normal tissues for ROGDI Gene

Orthologs for ROGDI Gene

This gene was present in the common ancestor of animals.

Orthologs for ROGDI Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ROGDI 34
  • 90.85 (n)
  • 95.67 (a)
  • 96 (a)
(Canis familiaris)
Mammalia ROGDI 34
  • 90.75 (n)
  • 96.35 (a)
  • 95 (a)
(Mus musculus)
Mammalia Rogdi 34
  • 87.97 (n)
  • 94.95 (a)
Rogdi 16
Rogdi 35
  • 88 (a)
(Pan troglodytes)
Mammalia ROGDI 34
  • 99.65 (n)
  • 99.65 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Rogdi 34
  • 87.97 (n)
  • 96.03 (a)
(Monodelphis domestica)
Mammalia ROGDI 35
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
-- 35
  • 86 (a)
(Gallus gallus)
Aves ROGDI 34
  • 74.37 (n)
  • 82.31 (a)
  • 81 (a)
(Anolis carolinensis)
Reptilia ROGDI 35
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rogdi 34
  • 73.77 (n)
  • 80.51 (a)
Str.7055 34
(Danio rerio)
Actinopterygii rogdi 34
  • 71.84 (n)
  • 75.81 (a)
wufj32e07 34
rogdi 35
  • 72 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006653 34
  • 58.78 (n)
  • 44.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta rogdi 34
  • 54.36 (n)
  • 44.81 (a)
rogdi 35
  • 32 (a)
(Caenorhabditis elegans)
Secernentea H14A12.3 35
  • 23 (a)
Species where no ortholog for ROGDI 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ROGDI Gene

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

Paralogs for ROGDI Gene

No data available for Paralogs for ROGDI Gene

Variants for ROGDI Gene

Sequence variations from dbSNP and Humsavar for ROGDI Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs2305659 - 4,801,528(+) GTTCT(C/T)TTGCT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3210637 -- 4,797,080(-) CCGGG(A/G)ATGGT nc-transcript-variant, utr-variant-3-prime
rs3214843 -- 4,798,807(+) CTGTT(-/AA)AAGAC intron-variant
rs3747609 -- 4,797,848(+) GTGGG(A/C)AGTGA intron-variant, reference, missense
rs3747610 -- 4,798,188(+) CGCTG(C/T)GGGAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422516 CNV deletion 17116639
esv26756 CNV gain+loss 19812545
esv3365063 CNV insertion 20981092
esv3379528 CNV insertion 20981092
nsv1046986 CNV gain 25217958

Variation tolerance for ROGDI Gene

Residual Variation Intolerance Score: 81.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ROGDI Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ROGDI Gene

MalaCards: The human disease database

(2) MalaCards diseases for ROGDI Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kohlschutter-tonz syndrome
  • dementia
complex partial epilepsy
  • complex partial epileptic seizure
- elite association - COSMIC cancer census association via MalaCards
Search ROGDI in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:22424600, ECO:0000269 PubMed:22482807}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ROGDI

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ROGDI: view

No data available for Genatlas for ROGDI Gene

Publications for ROGDI Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 65
  2. Mutations in ROGDI cause Kohlschutter-Tonz syndrome. (PMID: 22424600) Schossig A. … Zschocke J. (Am. J. Hum. Genet. 2012) 3 4 65
  3. A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. (PMID: 22482807) Mory A. … Gershoni-Baruch R. (Am. J. Hum. Genet. 2012) 3 4 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65

Products for ROGDI Gene

Sources for ROGDI Gene

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