RTTN (rotatin)

2014-11-01   Dessen P  

Identity

HGNC
RTTN
LOCATION
18q22.2
LOCUSID
25914
ALIAS
MSSP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
342076282021Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position.3
342076282021Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position.3
309274812019Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.2
309274812019Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.2
298836752018Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.7
301213722018Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.6
301684182018PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN.18
298836752018Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.7
301213722018Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.6
301684182018PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN.18
288115002017Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.27
288115002017Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.27
269402452016Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.12
269402452016Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.12
266087842015RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.17

Citation

Dessen P

RTTN (rotatin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72931/rttn-(rotatin)