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Q9P2K1

- C2D2A_HUMAN

UniProt

Q9P2K1 - C2D2A_HUMAN

Protein

Coiled-coil and C2 domain-containing protein 2A

Gene

CC2D2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 3 (05 May 2009)
      Previous versions | rss
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    Functioni

    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling By similarity.By similarity

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. cilium morphogenesis Source: UniProtKB
    3. smoothened signaling pathway Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil and C2 domain-containing protein 2A
    Gene namesi
    Name:CC2D2A
    Synonyms:KIAA1345
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:29253. CC2D2A.

    Subcellular locationi

    Cytoplasm. Cytoplasmcytoskeletoncilium basal body
    Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.By similarity

    GO - Cellular componenti

    1. ciliary transition zone Source: UniProtKB
    2. cytoplasm Source: UniProtKB-SubCell
    3. cytoskeleton Source: UniProtKB-KW
    4. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Meckel syndrome 6 (MKS6) [MIM:612284]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1114 – 11141T → M in MKS6 and JBTS9. 2 Publications
    VAR_062293
    Joubert syndrome 9 (JBTS9) [MIM:612285]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti721 – 7211P → S in JBTS9. 1 Publication
    VAR_062804
    Natural varianti1096 – 10961Q → H in JBTS9. 1 Publication
    VAR_055321
    Natural varianti1114 – 11141T → M in MKS6 and JBTS9. 2 Publications
    VAR_062293
    Natural varianti1122 – 11221P → S in JBTS9. 1 Publication
    VAR_055322
    Natural varianti1126 – 11261E → K in JBTS9. 2 Publications
    VAR_068169
    Natural varianti1520 – 15201N → S in JBTS9. 1 Publication
    VAR_069045
    Natural varianti1528 – 15281R → C in JBTS9 and COACHS. 2 Publications
    VAR_055323
    Natural varianti1551 – 15511L → P in JBTS9. 1 Publication
    VAR_055324
    Natural varianti1556 – 15561D → V in JBTS9. 3 Publications
    VAR_062806
    Natural varianti1568 – 15681Y → H in JBTS9. 1 Publication
    VAR_069046
    COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1116 – 11161T → M in COACHS. 1 Publication
    VAR_063804
    Natural varianti1528 – 15281R → C in JBTS9 and COACHS. 2 Publications
    VAR_055323

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

    Organism-specific databases

    MIMi216360. phenotype.
    612284. phenotype.
    612285. phenotype.
    Orphaneti1454. Joubert syndrome with hepatic defect.
    2318. Joubert syndrome with oculorenal defect.
    564. Meckel syndrome.
    PharmGKBiPA162381194.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16201620Coiled-coil and C2 domain-containing protein 2APRO_0000317250Add
    BLAST

    Proteomic databases

    PaxDbiQ9P2K1.
    PRIDEiQ9P2K1.

    PTM databases

    PhosphoSiteiQ9P2K1.

    Expressioni

    Tissue specificityi

    Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart.2 Publications

    Developmental stagei

    At Carnagie stage 13 (CS13, after 4 weeks of development) and CS14 CC2D2A is ubiquitously expressed, with a distinct signal in the spinal cord and limb buds. At CS17 CC2D2A continue to be widely expressedin particular throughout the central nervous system (CNS), lung, and digestive tract epithelia. At CS22 expression continues to be intense within the CNS, where strong and specific expression is observed in the eye and in external granular layer of cerebellum. CC2D2A expression is also observed in the costal perichondrium.1 Publication

    Gene expression databases

    ArrayExpressiQ9P2K1.
    BgeeiQ9P2K1.
    CleanExiHS_CC2D2A.
    GenevestigatoriQ9P2K1.

    Organism-specific databases

    HPAiHPA044124.

    Interactioni

    Subunit structurei

    Part of the tectonic-like complex (also named B9 complex).By similarity

    Protein-protein interaction databases

    BioGridi121603. 1 interaction.
    STRINGi9606.ENSP00000398391.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P2K1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1062 – 1174113C2Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili439 – 49355Sequence AnalysisAdd
    BLAST
    Coiled coili532 – 58251Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi221 – 2299Poly-Glu
    Compositional biasi591 – 5966Poly-Lys
    Compositional biasi1491 – 14944Poly-Ala

    Sequence similaritiesi

    Contains 1 C2 domain.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG246455.
    HOGENOMiHOG000068028.
    HOVERGENiHBG107545.
    InParanoidiQ9P2K1.
    OMAiCLTTVTD.
    PhylomeDBiQ9P2K1.
    TreeFamiTF324786.

    Family and domain databases

    InterProiIPR000008. C2_dom.
    IPR028928. CC2D2AN-C2.
    [Graphical view]
    PfamiPF15625. CC2D2AN-C2. 1 hit.
    [Graphical view]
    SMARTiSM00239. C2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P2K1-4) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MNPREEKVKI ITEEFIENDE DADMGRQNKN SKVRRQPRKK QPPTAVPKEM     50
    VSEKSHLGNP QEPVQEEPKT RLLSMTVRRG PRSLPPIPST SRTGFAEFSM 100
    RGRMREKLQA ARSKAESALL QEIPTPRPRR LRSPSKKELE TEFGTEPGKE 150
    VERTQQEVDS QSYSRVKFHD SARKIKPKPQ VPPGFPSAEE AYNFFTFNFD 200
    PEPEGSEEKP KARHRAGTNQ EEEEGEEEEP PAQGGGKEMD EEELLNGDDA 250
    EDFLLGLDHV ADDFVAVRPA DYESIHDRLQ MEREMLFIPS RQTVPTYKKL 300
    PENVQPRFLE DEGLYTGVRP EVARTNQNIM ENRLLMQDPE RRWFGDDGRI 350
    LALPNPIKPF PSRPPVLTQE QSIKAELETL YKKAVKYVHS SQHVIRSGDP 400
    PGNFQLDIDI SGLIFTHHPC FSREHVLAAK LAQLYDQYLA RHQRNKAKFL 450
    TDKLQALRNA VQTGLDPEKP HQSLDTIQKT INEYKSEIRQ TRKFRDAEQE 500
    KDRTLLKTII KVWKEMKSLR EFQRFTNTPL KLVLRKEKAD QKADEEAYEA 550
    EIQAEISELL EEHTEEYAQK MEEYRTSLQQ WKAWRKVQRA KKKKRKQAAE 600
    EHPGDEIAEP YPEEDLVKPS PPEPTDRAVI EQEVRERAAQ SRRRPWEPTL 650
    VPELSLAGSV TPNDQCPRAE VSRREDVKKR SVYLKVLFNN KEVSRTVSRP 700
    LGADFRVHFG QIFNLQIVNW PESLTLQVYE TVGHSSPTLL AEVFLPIPET 750
    TVVTGRAPTE EVEFSSNQHV TLDHEGVGSG VPFSFEADGS NQLTLMTSGK 800
    VSHSVAWAIG ENGIPLIPPL SQQNIGFRSA LKKADAISSI GTSGLTDMKK 850
    LAKWAAESKL DPNDPNNAPL MQLISVATSG ESYVPDFFRL EQLQQEFNFV 900
    SDQELNRSKR FRLLHLRSQE VPEFRNYKQV PVYDREIMEK VFQDYEKRLR 950
    DRNVIETKEH IDTHRAIVAK YLQQVRESVI NRFLIAKQYF LLADMIVEEE 1000
    VPNISILGLS LFKLAEQKRP LRPRRKGRKK VTAQNLSDGD IKLLVNIVRA 1050
    YDIPVRKPAV SKFQQPSRSS RMFSEKHAAS PSTYSPTHNA DYPLGQVLVR 1100
    PFVEVSFQRT VCHTTTAEGP NPSWNEELEL PFRAPNGDYS TASLQSVKDV 1150
    VFINIFDEVL HDVLEDDRER GSGIHTRIER HWLGCVKMPF STIYFQARID 1200
    GTFKIDIPPV LLGYSKERNM ILERGFDSVR SLSEGSYITL FITIEPQLVP 1250
    GESIREKFES QEDEKLLQAT EKFQAECALK FPNRQCLTTV IDISGKTVFI 1300
    TRYLKPLNPP QELLNVYPNN LQATAELVAR YVSLIPFLPD TVSFGGICDL 1350
    WSTSDQFLDL LAGDEEEHAV LLCNYFLSLG KKAWLLMGNA IPEGPTAYVL 1400
    TWEQGRYLIW NPCSGHFYGQ FDTFCPLKNV GCLIGPDNIW FNIQRYESPL 1450
    RINFDVTRPK LWKSFFSRSL PYPGLSSVQP EELIYQRSDK AAAAELQDRI 1500
    EKILKEKIMD WRPRHLTRWN RYCTSTLRHF LPLLEKSQGE DVEDDHRAEL 1550
    LKQLGDYRFS GFPLHMPYSE VKPLIDAVYS TGVHNIDVPN VEFALAVYIH 1600
    PYPKNVLSVW IYVASLIRNR 1620
    Length:1,620
    Mass (Da):186,185
    Last modified:May 5, 2009 - v3
    Checksum:i1AF2635A40B3EF4A
    GO
    Isoform 2 (identifier: Q9P2K1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-49: Missing.
         1199-1257: Missing.

    Show »
    Length:1,512
    Mass (Da):173,745
    Checksum:iDB31752F9CCB30D1
    GO
    Isoform 3 (identifier: Q9P2K1-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         42-122: PPTAVPKEMV...SKAESALLQE → KPTPFSRACW...PERPTERAGC
         123-1620: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:122
    Mass (Da):13,641
    Checksum:iBA4863761435AD18
    GO
    Isoform 4 (identifier: Q9P2K1-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         83-111: SLPPIPSTSRTGFAEFSMRGRMREKLQAA → RELVVKKSLGRPGTVTHVCNPSTLEGRGG
         112-1620: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:111
    Mass (Da):12,607
    Checksum:i72DDE380EFA07F1A
    GO

    Sequence cautioni

    The sequence AAI03711.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence BAB14710.1 differs from that shown. Reason: Aberrant splicing.
    The sequence BAA92583.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti524 – 5241R → S in AAI03711. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti376 – 3761E → A.
    Corresponds to variant rs16892095 [ dbSNP | Ensembl ].
    VAR_038489
    Natural varianti660 – 6601V → I.
    Corresponds to variant rs16892134 [ dbSNP | Ensembl ].
    VAR_038490
    Natural varianti721 – 7211P → S in JBTS9. 1 Publication
    VAR_062804
    Natural varianti800 – 8001K → E.1 Publication
    VAR_062805
    Natural varianti1096 – 10961Q → H in JBTS9. 1 Publication
    VAR_055321
    Natural varianti1114 – 11141T → M in MKS6 and JBTS9. 2 Publications
    VAR_062293
    Natural varianti1116 – 11161T → M in COACHS. 1 Publication
    VAR_063804
    Natural varianti1122 – 11221P → S in JBTS9. 1 Publication
    VAR_055322
    Natural varianti1126 – 11261E → K in JBTS9. 2 Publications
    VAR_068169
    Natural varianti1447 – 14471E → A Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation C-360 in CEP41. 1 Publication
    VAR_067535
    Natural varianti1520 – 15201N → S in JBTS9. 1 Publication
    VAR_069045
    Natural varianti1528 – 15281R → C in JBTS9 and COACHS. 2 Publications
    VAR_055323
    Natural varianti1551 – 15511L → P in JBTS9. 1 Publication
    VAR_055324
    Natural varianti1556 – 15561D → V in JBTS9. 3 Publications
    VAR_062806
    Natural varianti1568 – 15681Y → H in JBTS9. 1 Publication
    VAR_069046

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4949Missing in isoform 2. 2 PublicationsVSP_030923Add
    BLAST
    Alternative sequencei42 – 12281PPTAV…ALLQE → KPTPFSRACWQILPHLSAGV PLLGWEHPVQGKSFQATNCC PQGNGVRKIPPWQPPGACAG GAQDPPPEYDSPERPTERAG C in isoform 3. 1 PublicationVSP_045255Add
    BLAST
    Alternative sequencei83 – 11129SLPPI…KLQAA → RELVVKKSLGRPGTVTHVCN PSTLEGRGG in isoform 4. 1 PublicationVSP_045453Add
    BLAST
    Alternative sequencei112 – 16201509Missing in isoform 4. 1 PublicationVSP_045454Add
    BLAST
    Alternative sequencei123 – 16201498Missing in isoform 3. 1 PublicationVSP_045256Add
    BLAST
    Alternative sequencei1199 – 125759Missing in isoform 2. 2 PublicationsVSP_037223Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU450799 mRNA. Translation: ACC96081.1.
    AB037766 mRNA. Translation: BAA92583.1. Different initiation.
    AC007016 Genomic DNA. No translation available.
    AC116651 Genomic DNA. No translation available.
    CH471069 Genomic DNA. Translation: EAW92734.1.
    BC053865 mRNA. No translation available.
    BC070395 mRNA. No translation available.
    BC103710 mRNA. Translation: AAI03711.1. Sequence problems.
    AK023876 mRNA. Translation: BAB14710.1. Sequence problems.
    CCDSiCCDS47026.1. [Q9P2K1-4]
    CCDS47027.2. [Q9P2K1-5]
    CCDS54744.1. [Q9P2K1-6]
    RefSeqiNP_001073991.2. NM_001080522.2. [Q9P2K1-4]
    NP_001158192.1. NM_001164720.1. [Q9P2K1-6]
    NP_065836.2. NM_020785.2. [Q9P2K1-5]
    XP_005248234.1. XM_005248177.1. [Q9P2K1-4]
    XP_006714033.1. XM_006713970.1. [Q9P2K1-6]
    UniGeneiHs.590928.

    Genome annotation databases

    EnsembliENST00000389652; ENSP00000374303; ENSG00000048342. [Q9P2K1-2]
    ENST00000424120; ENSP00000403465; ENSG00000048342. [Q9P2K1-4]
    ENST00000438599; ENSP00000401154; ENSG00000048342. [Q9P2K1-5]
    ENST00000503292; ENSP00000421809; ENSG00000048342. [Q9P2K1-4]
    ENST00000503658; ENSP00000426846; ENSG00000048342. [Q9P2K1-5]
    ENST00000507954; ENSP00000427221; ENSG00000048342. [Q9P2K1-6]
    ENST00000511544; ENSP00000426109; ENSG00000048342. [Q9P2K1-5]
    ENST00000515124; ENSP00000424368; ENSG00000048342. [Q9P2K1-6]
    GeneIDi57545.
    KEGGihsa:57545.
    UCSCiuc003gnq.4. human.
    uc003gnr.4. human.
    uc003gnx.3. human. [Q9P2K1-2]
    uc010idv.2. human. [Q9P2K1-4]

    Polymorphism databases

    DMDMi229462975.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU450799 mRNA. Translation: ACC96081.1 .
    AB037766 mRNA. Translation: BAA92583.1 . Different initiation.
    AC007016 Genomic DNA. No translation available.
    AC116651 Genomic DNA. No translation available.
    CH471069 Genomic DNA. Translation: EAW92734.1 .
    BC053865 mRNA. No translation available.
    BC070395 mRNA. No translation available.
    BC103710 mRNA. Translation: AAI03711.1 . Sequence problems.
    AK023876 mRNA. Translation: BAB14710.1 . Sequence problems.
    CCDSi CCDS47026.1. [Q9P2K1-4 ]
    CCDS47027.2. [Q9P2K1-5 ]
    CCDS54744.1. [Q9P2K1-6 ]
    RefSeqi NP_001073991.2. NM_001080522.2. [Q9P2K1-4 ]
    NP_001158192.1. NM_001164720.1. [Q9P2K1-6 ]
    NP_065836.2. NM_020785.2. [Q9P2K1-5 ]
    XP_005248234.1. XM_005248177.1. [Q9P2K1-4 ]
    XP_006714033.1. XM_006713970.1. [Q9P2K1-6 ]
    UniGenei Hs.590928.

    3D structure databases

    ProteinModelPortali Q9P2K1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121603. 1 interaction.
    STRINGi 9606.ENSP00000398391.

    PTM databases

    PhosphoSitei Q9P2K1.

    Polymorphism databases

    DMDMi 229462975.

    Proteomic databases

    PaxDbi Q9P2K1.
    PRIDEi Q9P2K1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000389652 ; ENSP00000374303 ; ENSG00000048342 . [Q9P2K1-2 ]
    ENST00000424120 ; ENSP00000403465 ; ENSG00000048342 . [Q9P2K1-4 ]
    ENST00000438599 ; ENSP00000401154 ; ENSG00000048342 . [Q9P2K1-5 ]
    ENST00000503292 ; ENSP00000421809 ; ENSG00000048342 . [Q9P2K1-4 ]
    ENST00000503658 ; ENSP00000426846 ; ENSG00000048342 . [Q9P2K1-5 ]
    ENST00000507954 ; ENSP00000427221 ; ENSG00000048342 . [Q9P2K1-6 ]
    ENST00000511544 ; ENSP00000426109 ; ENSG00000048342 . [Q9P2K1-5 ]
    ENST00000515124 ; ENSP00000424368 ; ENSG00000048342 . [Q9P2K1-6 ]
    GeneIDi 57545.
    KEGGi hsa:57545.
    UCSCi uc003gnq.4. human.
    uc003gnr.4. human.
    uc003gnx.3. human. [Q9P2K1-2 ]
    uc010idv.2. human. [Q9P2K1-4 ]

    Organism-specific databases

    CTDi 57545.
    GeneCardsi GC04P015471.
    GeneReviewsi CC2D2A.
    HGNCi HGNC:29253. CC2D2A.
    HPAi HPA044124.
    MIMi 216360. phenotype.
    612013. gene.
    612284. phenotype.
    612285. phenotype.
    neXtProti NX_Q9P2K1.
    Orphaneti 1454. Joubert syndrome with hepatic defect.
    2318. Joubert syndrome with oculorenal defect.
    564. Meckel syndrome.
    PharmGKBi PA162381194.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG246455.
    HOGENOMi HOG000068028.
    HOVERGENi HBG107545.
    InParanoidi Q9P2K1.
    OMAi CLTTVTD.
    PhylomeDBi Q9P2K1.
    TreeFami TF324786.

    Miscellaneous databases

    ChiTaRSi CC2D2A. human.
    GeneWikii CC2D2A.
    GenomeRNAii 57545.
    NextBioi 63996.
    PROi Q9P2K1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9P2K1.
    Bgeei Q9P2K1.
    CleanExi HS_CC2D2A.
    Genevestigatori Q9P2K1.

    Family and domain databases

    InterProi IPR000008. C2_dom.
    IPR028928. CC2D2AN-C2.
    [Graphical view ]
    Pfami PF15625. CC2D2AN-C2. 1 hit.
    [Graphical view ]
    SMARTi SM00239. C2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle."
      Tallila J., Jakkula E., Peltonen L., Salonen R., Kestilae M.
      Am. J. Hum. Genet. 82:1361-1367(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INVOLVEMENT IN MECKEL SYNDROME TYPE 6.
    2. "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."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-527 (ISOFORM 2).
      Tissue: Uterus.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 283-1620 (ISOFORMS 1/2).
      Tissue: Thyroid.
    7. "CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa."
      Noor A., Windpassinger C., Patel M., Stachowiak B., Mikhailov A., Azam M., Irfan M., Siddiqui Z.K., Naeem F., Paterson A.D., Lutfullah M., Vincent J.B., Ayub M.
      Am. J. Hum. Genet. 82:1011-1018(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN JBTS9.
    8. Cited for: DEVELOPMENTAL STAGE, VARIANTS JBTS9 SER-721; MET-1114 AND VAL-1556, VARIANT GLU-800.
    9. Cited for: VARIANTS JBTS9 HIS-1096; SER-1122; CYS-1528 AND PRO-1551, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CEP290.
    10. "Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?"
      Tallila J., Salonen R., Kohlschmidt N., Peltonen L., Kestilae M.
      Hum. Mutat. 30:E813-E830(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MKS6 MET-1114.
    11. Cited for: VARIANTS COACHS MET-1116 AND CYS-1528.
    12. Cited for: VARIANTS JBTS9 LYS-1126 AND VAL-1556.
    13. Cited for: VARIANTS JBTS9 LYS-1126; SER-1520; VAL-1556 AND HIS-1568.
    14. Cited for: VARIANT ALA-1447.

    Entry informationi

    Entry nameiC2D2A_HUMAN
    AccessioniPrimary (citable) accession number: Q9P2K1
    Secondary accession number(s): A6ND97
    , B3FW08, D6RB72, E7EP21, E9PEV5, Q3SYP3, Q9H8A7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 90 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3