Gene Gene information from NCBI Gene database.
Entrez ID 25914
Gene name Rotatin
Gene symbol RTTN
Synonyms (NCBI Gene)
MSSP
Chromosome 18
Chromosome location 18q22.2
Summary 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 hear
SNPs SNP information provided by dbSNP.
25
SNP ID Visualize variation Clinical significance Consequence
rs35068710 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs35313369 C>T Conflicting-interpretations-of-pathogenicity, benign Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs62089120 G>A Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs112327299 T>C Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs149233888 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant, non coding transcript variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
409
miRTarBase ID miRNA Experiments Reference
MIRT050821 hsa-miR-17-5p CLASH 23622248
MIRT672477 hsa-miR-4797-5p HITS-CLIP 23824327
MIRT672476 hsa-miR-5007-5p HITS-CLIP 23824327
MIRT672474 hsa-miR-4524a-3p HITS-CLIP 23824327
MIRT672473 hsa-miR-924 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30168418
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 30168418
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610436 18654 ENSG00000176225
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86VV8
Protein name Rotatin
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14726 RTTN_N 16 112 Rotatin, an armadillo repeat protein, centriole functioning Family
Sequence
MVLAGLIRKLGHQLAEIRERALKSILCKIEHNLICYADLIQERQLFLHLLEWFNFPSVPM
KEEVLNLLSRLVKYPPAVQHLVDVGAVEFLSKLRSNVEPNLQAEIDGILDGL
FLLPSEVP
ALSSASYQTNQTELSKNPEILTGYFPQDKSNFQQMEVPPRPVVNQTVKCLKFSTFPWLPL
TTTDRHVLSSNESSLRSSNHTLIWNTCELLKDVIMQDFPAEIFLQRPKIVQSLLSLLKLA
FGDGKHRLALQSVSCLQQLCMYLRNRLNFHRDPGFFSNKHDTVSQNSSLSYCHEARGTHH
SQNPSPGSSSPRPSVVGRTGQRPRGDGQDWDAASSSGSSSHAHVNSRISVHSPLDMGHID
LPELETEDTLELQFQQLSLPQFCVSILESAVPLLRTGSRQVIIRVLELLTEDMTLIGEAI
STDIWDDSSLFGIDMKEKLLLVLGALGETMCYHKSSISLEQPEVMLVHHRMAFISISLFA
VRLLQTLLPVEKASEFLSEPMSTALFLLSLDMPISLEYPNIHEAVVAYLEQLNSENYSIY
KRTAEAVYSIECTCNFLSDIGKEGEKNLLELVELADQALRSFSYHQHFPLIKEIISICSK
IWKSAQASPLLQGESQKVLLHMLSHPLPRVKAETYHCCLEITKECLGVHNVTKPVSSLCN
GIHFLLHPKVLYEISVFGIQEPESEVNTAAKAILLYLLQGRLMMTALTWNKFIESLCPVI
PILQGYADTEDPLGNCILLLSKASSDTEEMLPCTTRLKSMLRLLLVKKPSVRSLALKLLA
FHLTSEEGADTKRPLIDARVLSRVTDLFIGKKPIELRLDDRRELVIKLETVEKVYEIFTS
DDVDLVLRKSAAEQLAVIMQDIKMHAVVKKLCLIDKIIEYLNECVSQDGKVVECLVQPCL
TLLRKVLCGDPVMRVSLSQQSSLLTVLFRVSLIFHEDCSVVTEVGALFCLLLFDEVSRMD
MWSVNPSNKPSLPSVFSLPVSVFRRYHLPVHVIGHHAVSPYSIVLPLSADCLALKPVSDM
LRIAWNLSWYHGSDNLLKQMNSETKTQEILDALKLSTEDILTLKITHMASGLQDCLHSIV
QAATHREVRAAVTRMSFYLLNDRLSLKGCPGPCGVTLKSLAWHTALNRFLQVLPACTEDE
KLLIDIIHFLNKLIKEQRKNSSLELLNWILELLLRHSANPLLDLLVLTESQAREETDDIR
TAVRQQLQKELIALFDTLLLNFMEVTDRKCSELLYVFQTQLALKLLQCLKVTDAPHFYGL
PSLERTLRGMANLTAFPGWSSHSPLTKPLDICVKYLSGLLEVITSFYVERGGNAMSFMGK
GVTKSTILCLLHLSHEMMAQAGSLEWMSLWFLPLGSHSEEHIPTQQGLAWLIPLWVDRDP
EVRFTSLGLGSALTTLETGCVALANSCQNISGGLWGTVVNILLDQSECSMVRREAAFILQ
NLLVIPMPTEIIKDYTWQGPCVHDEDSGLSLIGKPALQALLYHCHFYEHLNQMVKHCYLG
RCMFDLNFSAFDRNSESNDLNGLDDSFKFWRAPSRTSQDRDPSSLSTSETTVAPSLGSTE
FQPLVQSTTLLPEASHDQFVAQGHQESTSPRPPHDSSLSAPLPKLCVFVTPSLLSAMCSL
LDNLLTIAPRDTAKAFRQAHLIELLCSIADATLIQTCVQELRALLPSSPPAEHTQAQVSF
LLEYLSSLSRLLQSCLLVEPDLVIQDELVKPLITNIIGILTICTKDVLDKELISAFYHTW
THLFNLLAMLLRKAGAITLPFVTVALAKHWTAAIDMFCTCAGLSATCPALYTASLQFLSV
LLTEEAKGHLQAKSKTHLCCSPTVASLLDDSQENQKSLEQLSDVILQCYEGKSSKDILKR
VAANALMSLLAVSRRAQKHALKANLIDNCMEQMKHINAQLNLDSLRPGKAALKKKEDGVI
KELSIAMQLLRNCLYQNEECKEAALEAHLVPVLHSLWPWILMDDSLMQISLQLLCVYTAN
FPNGCSSLCWSSCGQHPVQATHRGAVSNSLMLCILKLASQMPLENTTVQQMVFMLLSNLA
LSHDCKGVIQKSNFLQNFLSLALPKGGNKHLSNLTILWLKLLLNISSGEDGQQMILRLDG
CLDLLTEMSKYKHKSSPLLPLLIFHNVCFSPANKPKILANEKVITVLAACLESENQNAQR
IGAAALWALIYNYQKAKTALKSPSVKRRVDEAYSLAKKTFPNSEANPLNAYYLKCLENLV
QLLNSS
Sequence length 2226
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
261
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephalic primordial dwarfism due to RTTN deficiency Likely pathogenic; Pathogenic rs200495808, rs1280580731, rs2145783332, rs2146138982, rs373987090, rs766635681, rs374356518, rs1599716037, rs780270096, rs864321621, rs864321620, rs775277800, rs756096769, rs377480200, rs2512602579
View all (6 more)
RCV005630935
RCV001784922
RCV001783698
RCV001783699
RCV001783700
RCV004812413
RCV005630993
RCV005254644
RCV000210342
RCV000210335
RCV000210341
RCV000210338
RCV003148053
RCV003148479
RCV003326041
RCV003388536
RCV003479637
RCV003990666
RCV004559127
RCV000681616
RCV001255727
Microcephaly Pathogenic; Likely pathogenic rs779516131, rs2145420319 RCV002272509
RCV002272125
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES Likely pathogenic; Pathogenic rs1555707336, rs318240757 RCV000499627
RCV000030785
Primary microcephaly Likely pathogenic; Pathogenic rs780270096, rs864321621, rs864321620, rs775277800 RCV000203564
RCV000203567
RCV000203563
RCV000203569
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs76263777, rs7227882, rs75577820, rs145976466, rs17807127 RCV005919831
RCV005918798
RCV005889268
RCV005889277
RCV005902300
Cervical cancer Benign; Likely benign rs7227882, rs182595458, rs145976466 RCV005918799
RCV005889275
RCV005889280
Cholangiocarcinoma Benign rs11665578, rs75225724, rs17807127 RCV005925213
RCV005889265
RCV005902304
Clear cell carcinoma of kidney Benign; Likely benign rs182595458 RCV005889276
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aneuploidy Associate 30879067
Autosomal Recessive Primary Microcephaly Associate 28811500, 29967526, 30879067
Capillary Malformation Arteriovenous Malformation Associate 30879067
Hemangioma Cavernous Central Nervous System Associate 30879067
Intellectual Disability Associate 29967526, 30879067
Laryngeal Neoplasms Associate 32276964
Lissencephaly Associate 30879067
Malformations of Cortical Development Associate 30879067
Microcephaly Associate 28811500, 29967526, 30168418, 30879067, 34207628
Mosaic variegated aneuploidy syndrome Inhibit 34207628