Property Summary

NCBI Gene PubMed Count 13
Grant Count 4
R01 Count 4
Funding $1,321,824
PubMed Score 6.40
PubTator Score 9.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma 1.100 0.016
osteosarcoma 1.539 0.000
pancreatic ductal adenocarcinoma liver m... 1.012 0.003
tuberculosis and treatment for 3 months 1.300 0.000
ovarian cancer -1.100 0.000

Synonym

Accession O95876 Q53RW4 Q7Z2Z3 hFRTZ
Symbols FRTZ
BBS15
FRITZ
CHDTHP
C2orf86

Gene

Gene RIF (3)

PMID Text
20671153 study linked mutations in Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other genes mutated in these syndromes also influence collective cell movement and ciliogenesis
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPA      1 - 70
TEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLS     71 - 140
LSGPQLEKVVIDRSLVGKLISDTISDALLTDSFIILSFLAQNKLCFIQFTKKMESSDVNKRLEKLSALDY    141 - 210
KIFYYEIPGPINKTTERHLAINCVHDRVVCWWPLVNDDAWPWAPISSEKDRANLLLLGYAQGRLEVLSSV    211 - 280
RTEWDPLDVRFGTKQPYQVFTVEHSVSVDKEPMADSCIYECIRNKIQCVSVTRIPLKSKAISCCRNVTED    281 - 350
KLILGCEDSSLILYETHRRVTLLAQTELLPSLISCHPSGAILLVGSNQGELQIFDMALSPINIQLLAEDR    351 - 420
LPRETLQFSKLFDASSSLVQMQWIAPQVVSQKGEGSDIYDLLFLRFERGPLGVLLFKLGVFTRGQLGLID    421 - 490
IIFQYIHCDEIYEAINILSSMNWDTLGHQCFISMSAIVNHLLRQKLTPEREAQLETSLGTFYAPTRPLLD    491 - 560
STILEYRDQISKYARRFFHHLLRYQRFEKAFLLAVDVGARDLFMDIHYLALDKGELALAEVARKRASDID    561 - 630
AESITSGVELLGPLDRGDMLNEAFIGLSLAPQGEDSFPDNLPPSCPTHRHILQQRILNGSSNRQIIDRRN    631 - 700
ELEKDICSGFLMTNTCNAEDGELREDGREQEIRDGGSLKMIHFGLV                            701 - 746
//

Text Mined References (17)

PMID Year Title
27158779 2016 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
25427950 2015 Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22004009 2012 Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.
21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
20671153 2010 Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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