Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

TTC8

contributors: mct/npt/pgu - updated : 03-03-2015

HGNC name	tetratricopeptide repeat domain 8
HGNC id	20087

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BBS8 Bardet-Biedl syndrome 8 RP51 retinitis pigmentosa 51
Location	14q31.3      Physical location : 89.290.977 - 89.344.334
Synonym name	TPR repeat protein 8
	Bardet-Biedl syndrome 8 protein
Synonym symbol(s)	BBS8

DNA

TYPE	functioning gene
STRUCTURE	53.36 kb     15 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_144596 15 - 2248 NP_653197 - 515 - 2003 14520415 NM_198309 14 splicing 2218 NP_938051 - 505 - 2003 14520415 NM_198310 13 splicing 2128 NM_198309 - 475 - 2003 14520415

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 neuroendocrine pituitary     highly   parathyroid       highly Nervous brain         Olfactory (smell)           Homo sapiens Reproductive male system prostate     highly Respiratory lung       moderately Homo sapiens Urinary kidney       moderately Homo sapiens Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory olfactory   highly Homo sapiens Epithelial sensory visual photoreceptor layer   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Olfactory olfactory receptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

eight TPR repeats

HOMOLOGY

interspecies	homolog to Drosophila CG13691
	homolog to C.elegans T25F10.5
	ortholog to murine Ttc8

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	basal bodies and centrosome, ciliated dendritic endings of sensory neurons(and in connecting cilium of the retina)

basic FUNCTION	involved in planar cell polarity
	required for normal localization of specific intraflagellar transport and in general intracellular transport
	required for the localization of G protein-coupled receptors to primary cilia on central neurons
	mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
	could participate, at the base of cilia, in a gate-keeping mechanism that allows only appropriate proteins access to the ciliary compartment
	play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
	potential role for TTC8 and/or IFT20, possibly upstream of core planar cell polarity (PCP) asymmetry
	ciliary genes FAM161A and TTC8 have been implicated in retinal degeneration (RD)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium

INTERACTION

DNA

RNA

small molecule

protein	PCM1
	PKD1 interacts with BBS1, BBS4, BBS5 and TTC8, four of the seven components of the BBSome
	direct interactions of TTC8 and IFT20 with VANGL2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BBS8 , RP51

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Bbs8-null mice have reduced olfactory responses to a number of odorants, and immunohistochemical analyses reveal a near-complete loss of cilia from olfactory sensory neurons and mislocalization of proteins normally enriched in cilia