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FLASH GENE

Symbol

RTTN

contributors: mct - updated : 06-01-2016

HGNC name	rotatin
HGNC id	18654

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MPD3 microcephalic primordial dwarfism 3 PMGYS polymicrogyria with seizures
Location	18q22.2      Physical location : 67.671.042 - 67.872.962
Synonym symbol(s)	FLJ26356, FLJ39085, DKFZP434G145, PMGYS

DNA

TYPE	functioning gene
STRUCTURE	201.92 kb     49 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_173630 49 - 7109 NP_775901 - 2226 - 2002 11900971

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Respiratory respiratory tract larynx     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	localizes at the upper cortical layers of the developing telencephalon

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	at least three transmembrane domains
	two Armadillo-like domains, highly conserved among species

HOMOLOGY

interspecies

homolog to Drosophila Ana3

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	colocalizes with the basal bodies at the primary cilium

basic FUNCTION	playing an essential role for the correct expression of the key L-R specification genes NODAL, LEFTY and PITX2
	centrosome-associated protein
	role for RTTN in cilia structure and function
	potentially involved in regulation of BMP signaling in neural cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PMGYS , MPD3

Susceptibility

Variant & Polymorphism

Candidate gene	for Kartagener syndrome
Marker
Therapy target

ANIMAL & CELL MODELS

	No turning (nt), a recessive lethal mutation causing left-right and axial patterning defects is likely elicited by Rttn deficiency
	uniformly lethal outcome of complete loss of Rttn in mice suggests that even the truncating mutation might have retained some function and that a truly null mutation might lead to early embryonic lethality in humans