RTTN (rotatin)

2014-11-01  

Identity

HGNC
LOCATION
18q22.2
LOCUSID
ALIAS
MSSP
FUSION GENES

Other Information

Locus ID:

NCBI: 25914
MIM: 610436
HGNC: 18654
Ensembl: ENSG00000176225

Variants:

dbSNP: 25914
ClinVar: 25914
TCGA: ENSG00000176225
COSMIC: RTTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176225ENST00000255674Q86VV8
ENSG00000176225ENST00000578780J3KSV7
ENSG00000176225ENST00000579986A0A1W2PPP7
ENSG00000176225ENST00000581161J3KTD2
ENSG00000176225ENST00000583043J3KT00
ENSG00000176225ENST00000638251A0A1W2PQI7
ENSG00000176225ENST00000638298A0A1W2PR96
ENSG00000176225ENST00000639487A0A1W2PR21
ENSG00000176225ENST00000640376A0A1W2PPP3
ENSG00000176225ENST00000640769Q86VV8
ENSG00000176225ENST00000640931A0A1W2PR32

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
229396362012RTTN mutations link primary cilia function to organization of the human cerebral cortex.18
119009712002Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos.17
288115002017Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.11
266087842015RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.8
301684182018PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN.7
269402452016Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.4
298836752018Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.1
301213722018Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.1
309274812019Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.0

Citation

Dessen P

RTTN (rotatin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72931/rttn