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Aliases for ROGDI Gene

Aliases for ROGDI Gene

  • Rogdi Homolog 2 3
  • Leucine Zipper Domain Protein 3
  • Rogdi Homolog (Drosophila) 2
  • 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 amelo-cerebro-hypohidrotic syndrome and kohlschutter-tonz syndrome.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ROGDI Gene

Chromosome:
16
Start:
4,796,962 bp from pter
End:
4,802,950 bp from pter
Size:
5,989 bases
Orientation:
Minus strand

Genomic View for ROGDI Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9GZN7-ROGDI_HUMAN
    Recommended name:
    Protein rogdi homolog
    Protein Accession:
    Q9GZN7
    Secondary Accessions:
    • Q6IA00

    Protein attributes for ROGDI Gene

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

neXtProt entry for ROGDI Gene

Proteomics data for ROGDI Gene at MOPED

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

Q9GZN7

UniProtKB/Swiss-Prot:

ROGDI_HUMAN :
  • Belongs to the rogdi family.
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

Animal Model Products

miRNA for ROGDI Gene

miRTarBase miRNAs that target ROGDI

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ROGDI

In Situ Assay 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

COMPARTMENTS
Jensen Localization Image for ROGDI Gene COMPARTMENTS Subcellular localization image for ROGDI gene
Compartment Confidence
nucleus 3

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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000322832%0d%0a9606.ENSP00000355593%0d%0a
Selected Interacting proteins: Q9GZN7-ROGDI_HUMAN ENSP00000322832 for ROGDI Gene via I2D MINT STRING

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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ROGDI

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: - - -
SP5:
SP6: - - -
SP7: - -
SP8: - - - - - -

Relevant External Links for ROGDI Gene

GeneLoc Exon Structure for
ROGDI
ECgene alternative splicing isoforms for
ROGDI

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, MOPED, and MaxQB for ROGDI Gene



SOURCE GeneReport for Unigene cluster for ROGDI Gene Hs.459795

mRNA Expression by UniProt/SwissProt for ROGDI Gene

Q9GZN7-ROGDI_HUMAN
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

Protein tissue co-expression partners for ROGDI Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ROGDI 35
  • 90.85 (n)
  • 95.67 (a)
ROGDI 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ROGDI 35
  • 90.75 (n)
  • 96.35 (a)
ROGDI 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rogdi 35
  • 87.97 (n)
  • 94.95 (a)
Rogdi 16
Rogdi 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ROGDI 35
  • 99.65 (n)
  • 99.65 (a)
ROGDI 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rogdi 35
  • 87.97 (n)
  • 96.03 (a)
oppossum
(Monodelphis domestica)
Mammalia ROGDI 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves ROGDI 35
  • 74.37 (n)
  • 82.31 (a)
ROGDI 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ROGDI 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rogdi 35
  • 73.77 (n)
  • 80.51 (a)
Str.7055 35
zebrafish
(Danio rerio)
Actinopterygii rogdi 35
  • 71.84 (n)
  • 75.81 (a)
wufj32e07 35
rogdi 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006653 35
  • 58.78 (n)
  • 44.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta rogdi 35
  • 54.36 (n)
  • 44.81 (a)
rogdi 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea H14A12.3 36
  • 23 (a)
OneToOne
Species with no ortholog for ROGDI:
  • 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

ENSEMBL:
Gene Tree for ROGDI (if available)
TreeFam:
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 MAF
rs7546 -- 4,797,316(-) CTGCC(A/G)GGAAT utr-variant-3-prime, nc-transcript-variant
rs8118 -- 4,797,168(-) CCAGG(C/T)GCAGG utr-variant-3-prime, nc-transcript-variant
rs1045939 -- 4,796,994(-) GCTGT(C/T)TAAGA utr-variant-3-prime, nc-transcript-variant
rs1982515 -- 4,797,523(+) TGCTG(C/T)AGGTT intron-variant
rs2305659 - 4,801,528(+) GTTCT(C/T)TTGCT missense, reference, nc-transcript-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv2589n71 CNV Loss 21882294
nsv905248 CNV Loss 21882294
nsv905250 CNV Loss 21882294
esv26756 CNV Gain+Loss 19812545
esv2422516 CNV Deletion 17116639
nsv905251 CNV Loss 21882294

Variation tolerance for ROGDI Gene

Residual Variation Intolerance Score: 81.26% 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

HapMap Linkage Disequilibrium report
ROGDI
Human Gene Mutation Database (HGMD)
ROGDI

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

Disorders for ROGDI Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
amelo-cerebro-hypohidrotic syndrome
  • kohlschutter-tonz syndrome
kohlschutter-tonz syndrome
  • kohlschutter tonz syndrome
complex partial epilepsy
  • complex partial epileptic seizure
teeth hard tissue disease
amelogenesis imperfecta
  • aortic valve insufficiency
- elite association
Search ROGDI in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ROGDI_HUMAN
  • 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:
ROGDI
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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. A Novel Mutation in the ROGDI Gene in a Patient with KohlschA1tter-TAPnz Syndrome. (PMID: 25565929) Huckert M. … Bloch-Zupan A. (Mol Syndromol 2014) 67
  4. Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. (PMID: 24630287) Mory A. … Gershoni-Baruch R. (Pediatr. Neurol. 2014) 67
  5. KohlschA1tter-TAPnz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. (PMID: 23086778) Tucci A. … Houlden H. (Hum. Mutat. 2013) 67

Products for ROGDI Gene

Sources for ROGDI Gene

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