Property Summary

NCBI Gene PubMed Count 8
Grant Count 1
R01 Count 1
Funding $144,087.75
PubMed Score 4.77
PubTator Score 5.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.337 0.000
posterior fossa group B ependymoma 3.900 0.000
nasopharyngeal carcinoma -1.900 0.000
chronic rhinosinusitis -2.017 0.032

Gene RIF (4)

PMID Text
26531781 Cfap53 is a conserved regulator of organ laterality in both humans and zebrafish.
25504577 CCDC11 has a conserved essential function in cilia of the vertebrate left-right organizer during embryogenesis.
22577226 The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MYSQRFGTVQREVKGPTPKVVIVRSKPPKGQGAEHHLERIRRSHQKHNAILASIKSSERDRLKAEWDQHN      1 - 70
DCKILDSLVRARIKDAVQGFIINIEERRNKLRELLALEENEYFTEMQLKKETIEEKKDRMREKTKLLKEK     71 - 140
NEKERQDFVAEKLDQQFRERCEELRVELLSIHQKKVCEERKAQIAFNEELSRQKLVEEQMFSKLWEEDRL    141 - 210
AKEKREAQEARRQKELMENTRLGLNAQITSIKAQRQATQLLKEEEARLVESNNAQIKHENEQDMLKKQKA    211 - 280
KQETRTILQKALQERIEHIQQEYRDEQDLNMKLVQRALQDLQEEADKKKQKREDMIREQKIYHKYLAQRR    281 - 350
EEEKAQEKEFDRILEEDKAKKLAEKDKELRLEKEARRQLVDEVMCTRKLQVQEKLQREAKEQEERAMEQK    351 - 420
HINESLKELNCEEKENFARRQRLAQEYRKQLQMQIAYQQQSQEAEKEEKRREFEAGVAANKMCLDKVQEV    421 - 490
LSTHQVLPQNIHPMRKACPSKLPP                                                  491 - 514
//

Text Mined References (8)

PMID Year Title
26531781 2016 A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
25504577 2015 Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.
25416956 2014 A proteome-scale map of the human interactome network.
22577226 2012 A human laterality disorder associated with recessive CCDC11 mutation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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.