Property Summary

NCBI Gene PubMed Count 10
PubMed Score 6.88
PubTator Score 6.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 2.500 0.000
osteosarcoma -1.704 0.000
tuberculosis and treatment for 6 months 1.100 0.001
ovarian cancer 1.800 0.000
chronic rhinosinusitis -1.044 0.007

Synonym

Gene

Gene RIF (4)

PMID Text
25412110 we uncover that SAS-1 is related to C2CD3, a protein required for complete centriole formation in human cells and affected in a type of oral-facial-digital (OFD) syndrome
25013050 Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that C2CD3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with C2CD3
25011556 Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that C2CD3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with C2CD3
24997988 Loss of C2CD3 results in short centrioles without subdistal and distal appendages.

AA Sequence

MKQRKGQGSGGSRGRKKRGLSDISPSTSLPPLVEGQLRCFLKLTVNRVIWKIAKPPTCVLVRVRWWGETS      1 - 70
DGTLFCPRDALQTEPKAVRTTTRYAIRCGPKQFTSYLTDMAVLVLEVITKLDGLPIGRVQINGLAQLSPT     71 - 140
HQINGFFTIVSSTSKKLGELQVSLALEPLSETYDSYHPLPTTDMTENVLLSKQGFRENTEPSSTQFQVPS    141 - 210
RPRDIHTIKIDGKELAANSSRSTTPRGKDHVCFAENPDTIKDSSFGLQHSLNSGQSLESVTLKGRAPRKQ    211 - 280
MSLLNSSEFQPQIRTVAKSHSDSCILSSNNLPTKDLLSALLEQGNKLRNAMVISAMKSSPETSMLLDQVH    281 - 350
PPINEDSLRASTQIRAFSRNRFKDHIEDHLLPSTENTFWRHDTKADTRAIQLLLGSAELSQGNFWDGLGS    351 - 420
PPDSPSPGSDVYCISELNDPQYDQSLLENLFYTAPKSDTSISDFLSEEDDIVPSKKISQSTALARSSKVL    421 - 490
ESSDHKLKKRSAGKRNRNLVEQQMLSETPEDAQTMTLSVDRLALLGRTHSVRIIIETMGVPPDSPQMTPG    491 - 560
KKSYAGPPPKVTTAKKRTFFVEYHFPVGFSESGLGKTALITEVVRLASSKITDGKVKFQQRFVFPVQFGG    561 - 630
PMIEHWWNSNLTFQIYVKKTPQKKPEVIGSVSLSLRAVIQSELLSFSDQLPVQQENGQSPFGPLKVTMEL    631 - 700
ITDNKDFTGINTKLSGNTHYTPLCAPTSPNKALPELNQDMTCTKNPQNLNQIHEETAKKAQNLVLPNRKS    701 - 770
PSPVAPHPSTFVATPASHNLVNQTNGTTKESALLLHVLLMVPDGKDFISGESEKQSPCNVYLNCKLFSTE    771 - 840
EVTRSVIAWGTTQPVFNFSQVIPVSLSSKYLERLKNNVMVIETWNKVRSPGQDKLLGLVKLPLHQFYMSF    841 - 910
KDAKISRLLLDAQYPVVAVDSYMPVIDVFSGHQNGSLRVFLAMGSSNQIMALQRLKNEEGTLPPFSPRPA    911 - 980
HFLDQPTAASVAMAEDRGNGLMEHCFEIHIEMVKGLAPLQATVWGEADCYVQYYFPVQHSQSSVLKGPEF    981 - 1050
LENGITLKPFRTATTLCVPDPIFNSEHHHSLLLPAEVPVQRLLLSAFSAQGLVPGGGVQFEIWCRYYYPN   1051 - 1120
VRDQKVAKGTLPLSRICAMVTTQHREDVGIQTFNLPLTPRIENRKELRNQSSGLLDVGLRYRRSPRTAEG   1121 - 1190
VLAARTVSISVQIIRACGLQAAAKALAEREPALQFSATVGVNASVTTHLSFLPQGEQRRTHPVACSFCPE   1191 - 1260
FSHHVEFTCNLVTQHCSGEACFLAELLEFAEVIFAVYHENTKSASDIISIESCKEYLLGVVKVPTKELLI   1261 - 1330
KRSGITGWYPIILPEDGGLPHGLELMQKIVGGLELSISFTHRGDRERVLEAAEHLGWSFENSLKDFVRMD   1331 - 1400
EGEPATVTISTPRLWLPIHCVLLAGHNHIHKNTYCYLRYKFYDHEAFWTPLKKPKESVNKKQIMVTFKAS   1401 - 1470
KRAEVTRGPSLLWYFREERLEIQVWRAYGNDSVERPHQTDSWIGSAYVDLARLGERSARTLTVSGVYPLF   1471 - 1540
GRNASNLSGAALRVHVVLSSLSSHLEPTHELDSMDCSSHSESEQLPRRNDEVQLSPPEVISCHQKSPAST   1541 - 1610
QVPCSSTTAEVRLTQEGPADLDGTFAVSILVERAMHLSLKGSPLTERKVSIPSCCVSFATADESSPVYTQ   1611 - 1680
VVENTDSPIWNFQQQSRLSKELLLDPQQTLVFKVWHKGDEERVIGFASVDLSPLLSGFQFVCGWYNITDF   1681 - 1750
SGECQGQIKVAVSPLESLIHFKEERQARRGVETSKSLIPIYSPFSFPASDTYAAFSSHMARQTLDQLAHA   1751 - 1820
SSKELDFSSPGRSDTTRSQASRHEEHVQNIRRFHESLHLQGEAPLPCDDKLTTSPLSSQTSILTSLRKNL   1821 - 1890
SELDQIQRYFRQKLTKPFLPLSPQTQTAISQHQESCRDHLGPGASSLDPGSQCILEKSSNLVLQVSSLIT   1891 - 1960
DLQTITRDSQAALSSHRARSRSNKATTLPDAQDTEALQERCTMPDEPLVRAPDKGTDSPSPPPLEETSNG   1961 - 2030
GRMLHESLRHAVPITRMQSSEDTEAGPAYSDEDYEEDIIEPRTLNEITTVTDKTSPWSSVISDTSEVISP   2031 - 2100
QPDEVQREGPSCPSPGPFCREELMVKSSFLSSPERAVNPHLPRQGSPSQSLVACECEASKARVGGESASA   2101 - 2170
NPQPIPCPTLSGAQQSSTFVGWSSPQTDQNKEPKSEAPAENEAATSELGDSADSFKKLPLNLASQSRREN   2171 - 2240
HKGPPIDSSDIRQRQVTTGSETSTKQSLLLPGPIVVPNFFLPPQQLEASLRMLSLSATLPPAATTDQDKS   2241 - 2310
EATRGALSQRPCRPRPNSLPLNLPEEETLRIARIFSSQYSQKD                              2311 - 2353
//

Text Mined References (17)

PMID Year Title
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
25412110 2014 SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans.
24997988 2014 The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
24469809 2014 C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.
23769972 2013 Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22983010 2012 Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
22807096 2013 Search for chromosome rearrangements: new approaches toward discovery of novel translocations in head and neck squamous cell carcinoma.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
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