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Tdark Intraflagellar transport protein 46 homolog

Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis (By similarity).

 Comments

Property Summary

NCBI Gene PubMed Count 11
Grant Count 6
Funding $715,703.75
PubMed Score 5.08
PubTator Score 2.97

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (7)

Disease Z-score Confidence
Joubert syndrome 61 4.327 2.2
Meckel syndrome 48 3.689 1.8
Primary ciliary dyskinesia 73 3.473 1.7
Hydrocephalus 60 3.392 1.7
Nephronophthisis 74 3.14 1.6
ependymoma 2,514
lung cancer 4,466

Expression

  Differential Expression (2)

Disease log2 FC p
ependymoma 1.800 0.031
lung cancer 1.100 0.004

Synonym

Accession Q9NQC8 A8K0F6 Q9H6V5
Symbols CFAP32
C11orf2
C11orf60

Gene

IFT46

 Grant Application (6)

 GO Function (1)

 GO Component (8)

 GO Process (4)

 Compartment GO Term (34)

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 MGI Term (7)

Pathway (4)

 UniProt Keyword (9)

Gene RIF (1)

PMID Text
17720815 the ciliary protein IFT46 has a specific function in chondrocytes and is also essential for normal development of vertebrates.

AA Sequence 

MADNSSDECEEENNKEKKKTSQLTPQRGFSENEDDDDDDDDSSETDSDSDDDDEEHGAPLEGAYDPADYE      1 - 70
HLPVSAEIKELFQYISRYTPQLIDLDHKLKPFIPDFIPAVGDIDAFLKVPRPDGKPDNLGLLVLDEPSTK     71 - 140
QSDPTVLSLWLTENSKQHNITQHMKVKSLEDAEKNPKAIDTWIESISELHRSKPPATVHYTRPMPDIDTL    141 - 210
MQEWSPEFEELLGKVSLPTAEIDCSLAEYIDMICAILDIPVYKSRIQSLHLLFSLYSEFKNSQHFKALAE    211 - 280
GKKAFTPSSNSTSQAGDMETLTFS                                                  281 - 304
//

Text Mined References (14)

PMID Year Title
24339792 2013 Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
19253336 2009 Characterization of mouse IFT complex B.
17720815 2007 Knockdown of the intraflagellar transport protein IFT46 stimulates selective gene expression in mouse chondrocytes and affects early development in zebrafish.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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