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Aliases for RTTN Gene

Aliases for RTTN Gene

  • Rotatin 2 3 5
  • MSSP 3

External Ids for RTTN Gene

Previous GeneCards Identifiers for RTTN Gene

  • GC18M067493
  • GC18M067730
  • GC18M065820
  • GC18M065822
  • GC18M064389

Summaries for RTTN Gene

Entrez Gene Summary for RTTN Gene

  • This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]

GeneCards Summary for RTTN Gene

RTTN (Rotatin) is a Protein Coding gene. Diseases associated with RTTN include polymicrogyria with seizures and bilateral generalized polymicrogyria. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for RTTN Gene

  • Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2.

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

Genomics for RTTN Gene

Regulatory Elements for RTTN Gene

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

ENSRs around RTTN on UCSC Golden Path with GeneCards custom track

Genomic Location for RTTN Gene

Chromosome:
18
Start:
70,003,793 bp from pter
End:
70,205,945 bp from pter
Size:
202,153 bases
Orientation:
Minus strand

Genomic View for RTTN Gene

Genes around RTTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RTTN Gene

Proteins for RTTN Gene

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

    Protein Symbol:
    Q86VV8-RTTN_HUMAN
    Recommended name:
    Rotatin
    Protein Accession:
    Q86VV8
    Secondary Accessions:
    • Q68CS9
    • Q6ZRL8
    • Q6ZTK3
    • Q86TG4
    • Q8N8N8
    • Q8TBQ4
    • Q96IN9
    • Q9UFJ4

    Protein attributes for RTTN Gene

    Size:
    2226 amino acids
    Molecular mass:
    248630 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86583.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC87292.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC87292.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAH18659.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RTTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTTN Gene

Proteomics data for RTTN Gene at MOPED

Post-translational modifications for RTTN Gene

  • Ubiquitination at Lys 1528
  • Modification sites at PhosphoSitePlus

Other Protein References for RTTN Gene

No data available for DME Specific Peptides for RTTN Gene

Domains & Families for RTTN Gene

Protein Domains for RTTN Gene

Suggested Antigen Peptide Sequences for RTTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RTTN: view

No data available for Gene Families and UniProtKB/Swiss-Prot for RTTN Gene

Function for RTTN Gene

Molecular function for RTTN Gene

UniProtKB/Swiss-Prot Function:
Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2.
genes like me logo Genes that share phenotypes with RTTN: view

Human Phenotype Ontology for RTTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for RTTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RTTN Gene

Cytoplasm, cytoskeleton, cilium basal body. Note=Colocalizes with the basal bodies at the primary cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RTTN Gene COMPARTMENTS Subcellular localization image for RTTN gene
Compartment Confidence
cytoskeleton 5
plasma membrane 3
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for RTTN Gene

Pathways & Interactions for RTTN Gene

SuperPathways for RTTN Gene

No Data Available

Interacting Proteins for RTTN 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.ENSP00000255674%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q86VV8-RTTN_HUMAN ENSP00000255674 for RTTN Gene via I2D STRING

Gene Ontology (GO) - Biological Process for RTTN Gene

None

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

Drugs & Compounds for RTTN Gene

No Compound Related Data Available

Transcripts for RTTN Gene

Unigene Clusters for RTTN Gene

Rotatin:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2:
SP3:
SP4:
SP5:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45a · 45b ^ 46 ^ 47a · 47b ^
SP1: - -
SP2:
SP3: -
SP4:
SP5: -

ExUns: 48 ^ 49 ^ 50a · 50b · 50c
SP1:
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for RTTN Gene

GeneLoc Exon Structure for
RTTN
ECgene alternative splicing isoforms for
RTTN

Expression for RTTN Gene

mRNA expression in normal human tissues for RTTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



SOURCE GeneReport for Unigene cluster for RTTN Gene Hs.654809

genes like me logo Genes that share expression patterns with RTTN: view

Protein tissue co-expression partners for RTTN Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RTTN Gene

Orthologs for RTTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for RTTN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RTTN 35
  • 83.76 (n)
  • 83.55 (a)
RTTN 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RTTN 35
  • 87.62 (n)
  • 85.85 (a)
RTTN 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rttn 35
  • 83.88 (n)
  • 82.41 (a)
Rttn 16
Rttn 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RTTN 35
  • 99.1 (n)
  • 98.47 (a)
RTTN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rttn 35
  • 83.39 (n)
  • 82.37 (a)
oppossum
(Monodelphis domestica)
Mammalia RTTN 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves RTTN 35
  • 69.45 (n)
  • 64.91 (a)
RTTN 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RTTN 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rttn 35
  • 61.53 (n)
  • 55.06 (a)
zebrafish
(Danio rerio)
Actinopterygii rttn 35
  • 55.72 (n)
  • 51.3 (a)
rttn 36
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToOne
Species with no ortholog for RTTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for RTTN Gene

ENSEMBL:
Gene Tree for RTTN (if available)
TreeFam:
Gene Tree for RTTN (if available)

Paralogs for RTTN Gene

No data available for Paralogs for RTTN Gene

Variants for RTTN Gene

Sequence variations from dbSNP and Humsavar for RTTN Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_036848 -
rs17082206 - 70,196,608(+) GATGC(C/T)TTCCA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs285227 - 70,051,509(+) ATAAA(C/T)GTGTC nc-transcript-variant, reference, missense
rs4891392 - 70,051,452(+) TAACA(A/G)ACGGG nc-transcript-variant, reference, missense
VAR_069094 Polymicrogyria with seizures (PMGYS)

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

Variant ID Type Subtype PubMed ID
esv32736 CNV Gain+Loss 17666407
nsv510465 CNV Loss 20534489
nsv833686 CNV Gain 17160897

Variation tolerance for RTTN Gene

Residual Variation Intolerance Score: 5.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.65; 72.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RTTN Gene

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

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

Disorders for RTTN Gene

MalaCards: The human disease database

(4) MalaCards diseases for RTTN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polymicrogyria with seizures
  • pmgys
bilateral generalized polymicrogyria
  • bilateral generalised polymicrogyria
polymicrogyria
  • pmg
seckel syndrome
  • bird-headed dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search RTTN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RTTN_HUMAN
  • Polymicrogyria with seizures (PMGYS) [MIM:614833]: A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYS patients have moderate to severe mental retardation, poor speech, dysarthria and seizures. {ECO:0000269 PubMed:22939636}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RTTN

Genetic Association Database (GAD)
RTTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RTTN
genes like me logo Genes that share disorders with RTTN: view

No data available for Genatlas for RTTN Gene

Publications for RTTN Gene

  1. RTTN mutations link primary cilia function to organization of the human cerebral cortex. (PMID: 22939636) Kheradmand Kia S. … Mancini G.M. (Am. J. Hum. Genet. 2012) 3 4 67
  2. Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos. (PMID: 11900971) Faisst A.M. … Gruss P. (Mech. Dev. 2002) 2 3
  3. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3
  4. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3
  5. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. (PMID: 23514108) Toro C. … Goldfarb L.G. (BMC Neurol. 2013) 3

Products for RTTN Gene

Sources for RTTN Gene

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