Details for: CC2D2A
Associated with
Other Information
Genular Protein ID: 3189697643
Symbol: C2D2A_HUMAN
Name: Coiled-coil and C2 domain-containing protein 2A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 18513680
Title: Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
PubMed ID: 18513680
PubMed ID: 10718198
Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10718198
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 18387594
Title: CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
PubMed ID: 18387594
PubMed ID: 19068953
PubMed ID: 19777577
Title: CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
PubMed ID: 19777577
DOI: 10.1002/humu.21116
PubMed ID: 18950740
Title: CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
PubMed ID: 18950740
PubMed ID: 19466712
Title: Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
PubMed ID: 19466712
DOI: 10.1002/humu.21057
PubMed ID: 19574260
Title: Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PubMed ID: 19574260
PubMed ID: 22425360
Title: Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
PubMed ID: 22425360
PubMed ID: 22241855
Title: Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
PubMed ID: 22241855
PubMed ID: 23012439
Title: Mutations in TMEM231 cause Joubert syndrome in French Canadians.
PubMed ID: 23012439
PubMed ID: 22246503
Title: CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
PubMed ID: 22246503
DOI: 10.1038/ng.1078
PubMed ID: 24706459
Title: First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.
PubMed ID: 24706459
DOI: 10.1002/uog.13381
PubMed ID: 26477546
Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
PubMed ID: 26477546
PubMed ID: 30267408
Title: Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
PubMed ID: 30267408
DOI: 10.1111/cge.13453
PubMed ID: 31411728
Title: Meckel syndrome: Clinical and mutation profile in six fetuses.
PubMed ID: 31411728
DOI: 10.1111/cge.13623
Sequence Information:
- Length: 1620
- Mass: 186185
- Checksum: 1AF2635A40B3EF4A
- Sequence:
MNPREEKVKI ITEEFIENDE DADMGRQNKN SKVRRQPRKK QPPTAVPKEM VSEKSHLGNP QEPVQEEPKT RLLSMTVRRG PRSLPPIPST SRTGFAEFSM RGRMREKLQA ARSKAESALL QEIPTPRPRR LRSPSKKELE TEFGTEPGKE VERTQQEVDS QSYSRVKFHD SARKIKPKPQ VPPGFPSAEE AYNFFTFNFD PEPEGSEEKP KARHRAGTNQ EEEEGEEEEP PAQGGGKEMD EEELLNGDDA EDFLLGLDHV ADDFVAVRPA DYESIHDRLQ MEREMLFIPS RQTVPTYKKL PENVQPRFLE DEGLYTGVRP EVARTNQNIM ENRLLMQDPE RRWFGDDGRI LALPNPIKPF PSRPPVLTQE QSIKAELETL YKKAVKYVHS SQHVIRSGDP PGNFQLDIDI SGLIFTHHPC FSREHVLAAK LAQLYDQYLA RHQRNKAKFL TDKLQALRNA VQTGLDPEKP HQSLDTIQKT INEYKSEIRQ TRKFRDAEQE KDRTLLKTII KVWKEMKSLR EFQRFTNTPL KLVLRKEKAD QKADEEAYEA EIQAEISELL EEHTEEYAQK MEEYRTSLQQ WKAWRKVQRA KKKKRKQAAE EHPGDEIAEP YPEEDLVKPS PPEPTDRAVI EQEVRERAAQ SRRRPWEPTL VPELSLAGSV TPNDQCPRAE VSRREDVKKR SVYLKVLFNN KEVSRTVSRP LGADFRVHFG QIFNLQIVNW PESLTLQVYE TVGHSSPTLL AEVFLPIPET TVVTGRAPTE EVEFSSNQHV TLDHEGVGSG VPFSFEADGS NQLTLMTSGK VSHSVAWAIG ENGIPLIPPL SQQNIGFRSA LKKADAISSI GTSGLTDMKK LAKWAAESKL DPNDPNNAPL MQLISVATSG ESYVPDFFRL EQLQQEFNFV SDQELNRSKR FRLLHLRSQE VPEFRNYKQV PVYDREIMEK VFQDYEKRLR DRNVIETKEH IDTHRAIVAK YLQQVRESVI NRFLIAKQYF LLADMIVEEE VPNISILGLS LFKLAEQKRP LRPRRKGRKK VTAQNLSDGD IKLLVNIVRA YDIPVRKPAV SKFQQPSRSS RMFSEKHAAS PSTYSPTHNA DYPLGQVLVR PFVEVSFQRT VCHTTTAEGP NPSWNEELEL PFRAPNGDYS TASLQSVKDV VFINIFDEVL HDVLEDDRER GSGIHTRIER HWLGCVKMPF STIYFQARID GTFKIDIPPV LLGYSKERNM ILERGFDSVR SLSEGSYITL FITIEPQLVP GESIREKFES QEDEKLLQAT EKFQAECALK FPNRQCLTTV IDISGKTVFI TRYLKPLNPP QELLNVYPNN LQATAELVAR YVSLIPFLPD TVSFGGICDL WSTSDQFLDL LAGDEEEHAV LLCNYFLSLG KKAWLLMGNA IPEGPTAYVL TWEQGRYLIW NPCSGHFYGQ FDTFCPLKNV GCLIGPDNIW FNIQRYESPL RINFDVTRPK LWKSFFSRSL PYPGLSSVQP EELIYQRSDK AAAAELQDRI EKILKEKIMD WRPRHLTRWN RYCTSTLRHF LPLLEKSQGE DVEDDHRAEL LKQLGDYRFS GFPLHMPYSE VKPLIDAVYS TGVHNIDVPN VEFALAVYIH PYPKNVLSVW IYVASLIRNR
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.