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Aliases for RTTN Gene

Aliases for RTTN Gene

  • Rotatin 2 3
  • PMGYS 6

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.

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

Epigenetics Products

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

Genomic Location for RTTN Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys1528
  • Modification sites at PhosphoSitePlus

Other Protein References for RTTN Gene

No data available for DME Specific Peptides for RTTN Gene

Domains 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.

Gene Ontology (GO) - Molecular Function for RTTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
genes like me logo Genes that share ontologies with RTTN: view
genes like me logo Genes that share phenotypes with RTTN: view

Animal Model Products

CRISPR Products

miRNA for RTTN Gene

miRTarBase miRNAs that target RTTN

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for RTTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0036064 ciliary basal body IDA 22939636
genes like me logo Genes that share ontologies with RTTN: view

Pathways 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: ENSP00000255674 Q86VV8-RTTN_HUMAN for RTTN Gene via STRING I2D

Gene Ontology (GO) - Biological Process for RTTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007368 determination of left/right symmetry IEA --
genes like me logo Genes that share ontologies with RTTN: view

No data available for Pathways by source for RTTN Gene

Transcripts for RTTN Gene

Unigene Clusters for RTTN Gene

Rotatin:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for RTTN

Flow Cytometry Products

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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for RTTN Gene

SOURCE GeneReport for Unigene cluster for RTTN Gene Hs.654809

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

In Situ Assay Products

No data available for mRNA 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
chimpanzee
(Pan troglodytes)
Mammalia RTTN 35
  • 99.1 (n)
  • 98.47 (a)
RTTN 36
  • 99 (a)
OneToOne
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
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
rat
(Rattus norvegicus)
Mammalia Rttn 35
  • 83.39 (n)
  • 82.37 (a)
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 MAF
rs7998 -- 70,004,058(-) AAGAC(A/G)TGCTA utr-variant-3-prime
rs166903 -- 70,081,843(-) tatca(A/T)aatta intron-variant
rs169509 -- 70,201,565(-) agtgg(C/T)gggat intron-variant
rs169533 -- 70,077,093(+) TGTAG(A/C)GGGTT intron-variant
rs182250 -- 70,100,713(-) tgaca(A/G)accca intron-variant

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

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

MalaCards: The human disease database. (3) Diseases for RTTN Gene including...

Search for RTTN Gene in MalaCards »

(1) OMIM Diseases for RTTN Gene (610436)

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

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PMID: 19850743) Vanderwerf S.M. … Bagby G.C. (Blood 2009) 3

Products for RTTN Gene

Sources for RTTN Gene

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