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] See more...

Aliases for ROGDI Gene

Aliases for ROGDI Gene

  • Rogdi Atypical Leucine Zipper 2 3 5
  • Protein Rogdi Homolog 3 4
  • Rogdi Homolog 2 3
  • Leucine Zipper Domain Protein 3
  • Rogdi Homolog (Drosophila) 2
  • FLJ22386 2
  • ROGDI 5
  • 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 Atypical Leucine Zipper) is a Protein Coding gene. Diseases associated with ROGDI include Kohlschutter-Tonz Syndrome and Complex Partial Epilepsy.

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

Genomics for ROGDI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ROGDI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ROGDI on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ROGDI

Top Transcription factor binding sites by QIAGEN in the ROGDI gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • E47
  • Hand1
  • MyoD
  • NF-Y
  • Tal-1

Genomic Locations for ROGDI Gene

Genomic Locations for ROGDI Gene
5,989 bases
Minus strand
5,983 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:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for ROGDI Gene

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

Gene Families for ROGDI Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ROGDI Gene


Suggested Antigen Peptide Sequences for ROGDI Gene

GenScript: Design optimal peptide antigens:
  • Rogdi homolog (Drosophila), isoform CRA_a (D3DUE5_HUMAN)
  • Protein rogdi homolog (ROGDI_HUMAN)

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

Function for ROGDI Gene

Phenotypes From GWAS Catalog for ROGDI Gene

Gene Ontology (GO) - Molecular Function for ROGDI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17043677
genes like me logo Genes that share ontologies with ROGDI: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROGDI

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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. Cell junction, synapse, presynapse. Cell projection, axon. Perikaryon. Cell projection, dendrite. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Note=Detected primarily at presynaptic sites on axons, and to a lesser degree in soma and dendrites. Not detected at post-synaptic sites. {ECO:0000250 UniProtKB:Q4V7D2}.

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 ROGDI gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ROGDI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005623 cell IEA --
GO:0005634 nucleus IBA 21873635
GO:0005635 nuclear envelope IDA 22482807
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with ROGDI: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ROGDI Gene

Pathways & Interactions for ROGDI Gene

PathCards logo

SuperPathways for ROGDI Gene

No Data Available

Gene Ontology (GO) - Biological Process for ROGDI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007035 vacuolar acidification IBA 21873635
GO:0007420 brain development IMP 25565929
GO:0008284 positive regulation of cell proliferation IEA --
GO:0022008 neurogenesis IMP 22482807
GO:0030097 hemopoiesis IEA --
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

mRNA/cDNA for ROGDI Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROGDI

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

Expression for ROGDI Gene

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

Protein tissue co-expression partners for ROGDI Gene

- Elite partner

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

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.

Evidence on tissue expression from TISSUES for ROGDI Gene

  • Nervous system(4.9)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ROGDI Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with ROGDI: view

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
(Pan troglodytes)
Mammalia ROGDI 30 31
  • 99.65 (n)
(Bos Taurus)
Mammalia ROGDI 30 31
  • 90.85 (n)
(Canis familiaris)
Mammalia ROGDI 30 31
  • 90.75 (n)
(Monodelphis domestica)
Mammalia ROGDI 31
  • 88 (a)
(Mus musculus)
Mammalia Rogdi 30 17 31
  • 87.97 (n)
(Rattus norvegicus)
Mammalia Rogdi 30
  • 87.97 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
-- 31
  • 78 (a)
(Gallus gallus)
Aves ROGDI 30 31
  • 74.37 (n)
(Anolis carolinensis)
Reptilia ROGDI 31
  • 81 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rogdi 30
  • 73.77 (n)
Str.7055 30
(Danio rerio)
Actinopterygii rogdi 30 31
  • 71.84 (n)
wufj32e07 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006653 30
  • 58.78 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta rogdi 30 31
  • 54.36 (n)
(Caenorhabditis elegans)
Secernentea H14A12.3 31
  • 23 (a)
Species where no ortholog for ROGDI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolutionary constrained regions (ECRs) for ROGDI: view image

Paralogs for ROGDI Gene

No data available for Paralogs for ROGDI Gene

Variants for ROGDI Gene

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

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
639052 Uncertain Significance: Kohlschutter's syndrome 4,797,974(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641674 Uncertain Significance: Kohlschutter's syndrome 4,799,788(-) G/C
641988 Uncertain Significance: Kohlschutter's syndrome 4,797,725(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
643055 Uncertain Significance: Kohlschutter's syndrome 4,798,068(-) C/T
643762 Uncertain Significance: Kohlschutter's syndrome 4,797,975(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ROGDI Gene

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)

Additional Variant Information for ROGDI Gene

Human Gene Mutation Database (HGMD)
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 ROGDI Gene

Disorders for ROGDI Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
kohlschutter-tonz syndrome
  • ktzs
complex partial epilepsy
  • complex partial epileptic seizure
amelogenesis imperfecta
  • ai
- 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.
genes like me logo Genes that share disorders with ROGDI: view

No data available for Genatlas for ROGDI Gene

Publications for ROGDI Gene

  1. The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome. (PMID: 28638151) Lee H … Lee C (Scientific reports 2017) 2 3 4
  2. Toward 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 research 2001) 2 3 4
  3. A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. (PMID: 22482807) Mory A … Gershoni-Baruch R (American journal of human genetics 2012) 3 4
  4. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. (PMID: 22424600) Schossig A … Zschocke J (American journal of human genetics 2012) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ROGDI Gene

Sources for ROGDI Gene