Property Summary

NCBI Gene PubMed Count 18
PubMed Score 15.67
PubTator Score 17.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
posterior fossa group B ependymoma 1530 4.69074245475761E-18
lung adenocarcinoma 2714 3.38690657468201E-13
pilocytic astrocytoma 3086 4.55864059365424E-10
glioblastoma 5572 2.11488402339322E-8
nasopharyngeal carcinoma 1056 8.88652722466901E-7
sonic hedgehog group medulloblastoma 1482 6.72918912099217E-6
atypical teratoid / rhabdoid tumor 4369 7.7598172754291E-6
adult high grade glioma 2148 7.18424531232519E-5
medulloblastoma, large-cell 6234 6.62534006280572E-4
invasive ductal carcinoma 2950 0.00104475430701425
astrocytic glioma 2241 0.00267605684513811
oligodendroglioma 2849 0.00443413888035202
primitive neuroectodermal tumor 3031 0.00901342091959794
chronic rhinosinusitis 512 0.0464966791636702
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Joubert syndrome 62 6.386 3.2
Disease Target Count
Meckel syndrome 6 1

Expression

Synonym

Accession Q9P2K1 A6ND97 B3FW08 D6RB72 E7EP21 E9PEV5 Q3SYP3 Q9H8A7
Symbols MKS6
JBTS9

Gene

  Ortholog (7)

Species Source
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid

Gene RIF (10)

PMID Text
26485645 these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment.
22241855 CC2D2A testing should be prioritised in patients with JS and ventriculomegaly and/or seizures. Patients with CC2D2A-related JS should be monitored for hydrocephalus and seizures.
22023432 Results suggest the involvement of CC2D1A and CC2D2A in mental retardation in the Han Chinese population, and some specific haplotypes may be susceptible or protective.
21068128 Observational study of gene-disease association. (HuGE Navigator)
19777577 Mutations within the CC2D2A gene are associated with Meckel and Joubert syndromes.
19574260 Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L.
19068953 CC2D2A causes autosomal-recessive mental retardation with retinitis pigmentosa.
18950740 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
18513680 CC2D2A appears to have at least two cilia-related functions: the molecule seems to be a part of the basal body complex where the cilium is assembled from and also seems to act as a sensor for the intracellular calcium.
18387594 A homozygous splice-site mutation segregating in the family with autosomal-recessive mental retardation, within a coiled-coil and C2 domain-containing gene, CC2D2A was identified.

AA Sequence

MNPREEKVKIITEEFIENDEDADMGRQNKNSKVRRQPRKKQPPTAVPKEMVSEKSHLGNPQEPVQEEPKT      1 - 70
RLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQEIPTPRPRRLRSPSKKELE     71 - 140
TEFGTEPGKEVERTQQEVDSQSYSRVKFHDSARKIKPKPQVPPGFPSAEEAYNFFTFNFDPEPEGSEEKP    141 - 210
KARHRAGTNQEEEEGEEEEPPAQGGGKEMDEEELLNGDDAEDFLLGLDHVADDFVAVRPADYESIHDRLQ    211 - 280
MEREMLFIPSRQTVPTYKKLPENVQPRFLEDEGLYTGVRPEVARTNQNIMENRLLMQDPERRWFGDDGRI    281 - 350
LALPNPIKPFPSRPPVLTQEQSIKAELETLYKKAVKYVHSSQHVIRSGDPPGNFQLDIDISGLIFTHHPC    351 - 420
FSREHVLAAKLAQLYDQYLARHQRNKAKFLTDKLQALRNAVQTGLDPEKPHQSLDTIQKTINEYKSEIRQ    421 - 490
TRKFRDAEQEKDRTLLKTIIKVWKEMKSLREFQRFTNTPLKLVLRKEKADQKADEEAYEAEIQAEISELL    491 - 560
EEHTEEYAQKMEEYRTSLQQWKAWRKVQRAKKKKRKQAAEEHPGDEIAEPYPEEDLVKPSPPEPTDRAVI    561 - 630
EQEVRERAAQSRRRPWEPTLVPELSLAGSVTPNDQCPRAEVSRREDVKKRSVYLKVLFNNKEVSRTVSRP    631 - 700
LGADFRVHFGQIFNLQIVNWPESLTLQVYETVGHSSPTLLAEVFLPIPETTVVTGRAPTEEVEFSSNQHV    701 - 770
TLDHEGVGSGVPFSFEADGSNQLTLMTSGKVSHSVAWAIGENGIPLIPPLSQQNIGFRSALKKADAISSI    771 - 840
GTSGLTDMKKLAKWAAESKLDPNDPNNAPLMQLISVATSGESYVPDFFRLEQLQQEFNFVSDQELNRSKR    841 - 910
FRLLHLRSQEVPEFRNYKQVPVYDREIMEKVFQDYEKRLRDRNVIETKEHIDTHRAIVAKYLQQVRESVI    911 - 980
NRFLIAKQYFLLADMIVEEEVPNISILGLSLFKLAEQKRPLRPRRKGRKKVTAQNLSDGDIKLLVNIVRA    981 - 1050
YDIPVRKPAVSKFQQPSRSSRMFSEKHAASPSTYSPTHNADYPLGQVLVRPFVEVSFQRTVCHTTTAEGP   1051 - 1120
NPSWNEELELPFRAPNGDYSTASLQSVKDVVFINIFDEVLHDVLEDDRERGSGIHTRIERHWLGCVKMPF   1121 - 1190
STIYFQARIDGTFKIDIPPVLLGYSKERNMILERGFDSVRSLSEGSYITLFITIEPQLVPGESIREKFES   1191 - 1260
QEDEKLLQATEKFQAECALKFPNRQCLTTVIDISGKTVFITRYLKPLNPPQELLNVYPNNLQATAELVAR   1261 - 1330
YVSLIPFLPDTVSFGGICDLWSTSDQFLDLLAGDEEEHAVLLCNYFLSLGKKAWLLMGNAIPEGPTAYVL   1331 - 1400
TWEQGRYLIWNPCSGHFYGQFDTFCPLKNVGCLIGPDNIWFNIQRYESPLRINFDVTRPKLWKSFFSRSL   1401 - 1470
PYPGLSSVQPEELIYQRSDKAAAAELQDRIEKILKEKIMDWRPRHLTRWNRYCTSTLRHFLPLLEKSQGE   1471 - 1540
DVEDDHRAELLKQLGDYRFSGFPLHMPYSEVKPLIDAVYSTGVHNIDVPNVEFALAVYIHPYPKNVLSVW   1541 - 1610
IYVASLIRNR                                                               1611 - 1620
//

Text Mined References (23)

PMID Year Title
26485645 2015 The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.
22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
22246503 2012 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
22241855 2012 Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
22023432 2012 Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20585324 2011 Genome-wide association study of conduct disorder symptomatology.
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