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Protein

Coiled-coil and C2 domain-containing protein 2A

Gene

Cc2d2a

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.2 Publications

GO - Biological processi

  • axoneme assembly Source: MGI
  • camera-type eye development Source: MGI
  • cilium assembly Source: UniProtKB
  • cilium morphogenesis Source: UniProtKB
  • determination of left/right symmetry Source: MGI
  • embryonic brain development Source: MGI
  • heart development Source: MGI
  • motile cilium assembly Source: MGI
  • motile primary cilium assembly Source: MGI
  • neural tube closure Source: MGI
  • nonmotile primary cilium assembly Source: MGI
  • smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-MMU-5620912. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil and C2 domain-containing protein 2A
Gene namesi
Name:Cc2d2a
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:1924487. Cc2d2a.

Subcellular locationi

GO - Cellular componenti

  • ciliary transition zone Source: UniProtKB
  • cytoplasm Source: UniProtKB-SubCell
  • cytoskeleton Source: UniProtKB-KW
  • TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Disruption phenotypei

Embryos show randomized left-right axes, holoprosencephaly, microphthalmia and a variably expressive curved body axis. Cc2d2a null embryos also have cilia defects, which are exemplified by the absence of Arl13b staining in neural tube and surrounding mesenchyme.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16331633Coiled-coil and C2 domain-containing protein 2APRO_0000317251Add
BLAST

Proteomic databases

MaxQBiQ8CFW7.
PaxDbiQ8CFW7.
PRIDEiQ8CFW7.

PTM databases

PhosphoSiteiQ8CFW7.

Expressioni

Gene expression databases

BgeeiQ8CFW7.
CleanExiMM_CC2D2A.
ExpressionAtlasiQ8CFW7. baseline and differential.
GenevisibleiQ8CFW7. MM.

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex).2 Publications

Protein-protein interaction databases

BioGridi231096. 2 interactions.
IntActiQ8CFW7. 7 interactions.
STRINGi10090.ENSMUSP00000048320.

Structurei

3D structure databases

ProteinModelPortaliQ8CFW7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1068 – 1180113C2Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili440 – 50162Sequence analysisAdd
BLAST
Coiled coili554 – 61158Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi240 – 2434Poly-Glu

Sequence similaritiesi

Contains 1 C2 domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3639. Eukaryota.
ENOG410XQVY. LUCA.
GeneTreeiENSGT00510000046611.
HOGENOMiHOG000068028.
HOVERGENiHBG107545.
InParanoidiQ8CFW7.
KOiK19352.
OMAiVYETIGH.
OrthoDBiEOG7X3QQ6.
PhylomeDBiQ8CFW7.
TreeFamiTF324786.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR028928. CC2D2AN-C2.
[Graphical view]
PfamiPF00168. C2. 1 hit.
PF15625. CC2D2AN-C2. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8CFW7-1) [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

        10         20         30         40         50
MNTNDEKMKI ISEDFTGDGV DTEAGRRKKN SKVRRQQRKK KPPASPPEEM
60 70 80 90 100
VSDKFQDGGQ QEVVEEEPET NLLSLTARRG PRSLPPIPSA SRTGFAEFSM
110 120 130 140 150
RERMREKLQA ARSKAESALL RDVPTPRPRR LRSPSREKET ETEFGTEPST
160 170 180 190 200
EVQDTQKEDD TKSYSRIKFR DSVRKIKSKP QLPPGFPSAE EAYNFFTFNF
210 220 230 240 250
DPEPEESEEK SPVKGGERAH HEDQEGEEGT QAQERAKKTE EEELLNGKDA
260 270 280 290 300
EDFLLGLDPT AHDFVAVRAA EYKSARIQLQ KEKEILFTPS RLTVPTYKKL
310 320 330 340 350
PENIQPRFLE DEGLYIGARP EVARTNENIM ENRLLIQEPG SKWFGDDGRI
360 370 380 390 400
LALPSPIKPF PSRPSLTTRE QSPKAGLETL YKKAEKYVHS RQHMIGSGDP
410 420 430 440 450
PGNFQLDIDI SGLIFTHHPC FSREHVLASK LAQLYDQYLA RQQRNKTKFL
460 470 480 490 500
TDKLQALRKA VQTSLNPEKP HQSLDTTQKT INEYKSEIRQ TRKLRDAEQE
510 520 530 540 550
KDRTLLKTII KVWKEMKSLR EFQRFTNTPL KLVLRKEKVD PKLDEDAYEA
560 570 580 590 600
EIQAEIHELL EEHMEEYATK MEEYRTSHQQ WKAWRKAQRA KKKKKKQTTE
610 620 630 640 650
EHLEEEEAEE SFPEEEVTKP IPPEPTDPAV IEQQVRERAA HSRRRPGEPT
660 670 680 690 700
LIPELSLAGN VTPNDQCPRV EVSRREDVRR RSVYLKVVFN SKEVSRTVSR
710 720 730 740 750
PLGADFRVHF GQIFNLQIFN WPESLMLQVY ETIGHSGTTL LAEVFLPIPE
760 770 780 790 800
TTLVTGRAPI EEVEFSSNQH VTLDHEGVGS GVPFSFEADG SNQLTLMTSG
810 820 830 840 850
KVSHSVAWAV GENGIPLIPP LSQQNIGFRS ALRRADAISS IGTSGLTDMK
860 870 880 890 900
KLAKWAAESK LDPNDPNHAP LMQLISVATS GESYVPDFFR LEQLQQEFNF
910 920 930 940 950
VSEEELNRSK RFRLLHLRSQ EVPEFRNYKQ IPAYDREIME KVFQDYEKRL
960 970 980 990 1000
RDRNVIETKD HLDMHRATVA KYLQQVREAV VNRFLTAKHH FLLTDLVVEE
1010 1020 1030 1040 1050
EVPNISSEGS GILGLSLFKL AEQKRPLRPR RKGRKKVTAQ NLSDGDIKLL
1060 1070 1080 1090 1100
VNIIRAYDIP VRKPVVSKFQ QPSRSSRTFS EKQTASPSTH SPLHNADYPL
1110 1120 1130 1140 1150
GQVLVRPFVE VSFQRTICHT TTAEGPNPSW NEELELPFRA PNGDYSTASL
1160 1170 1180 1190 1200
QSVKDDVYIN IFDEVLYDIL EDDRERGSGI HTRIERHWLG CVKIPFSTIY
1210 1220 1230 1240 1250
FQARIDGTFK IDIPPVLLGY SKERNIIMER AFDSARSLSE GSYITLFITI
1260 1270 1280 1290 1300
EPQLVPGEPM REKMSDMLKK FDTQEDEKLL QATEKFQAEC ALKFPQRQCL
1310 1320 1330 1340 1350
TTVTDMTGKT VFITRYLKPL NPPQELLHVY PNNPQATAEL VARYVSLIPF
1360 1370 1380 1390 1400
LPDSVSFAGV CDLWSTSDQF LDLLAGDEEE HAVLLCNYFL FLGKKAWLVM
1410 1420 1430 1440 1450
GSAIPEGPTA YVLTWEKNYY LIWNPCSGHC YGQFDAFCPL KSVGCLIGPD
1460 1470 1480 1490 1500
NIWFNIQHHD SPLRINFDVT KPKLWKSFFS RSLPYPGLSS VQPEELIYQH
1510 1520 1530 1540 1550
TDKAVAAELQ DRIEKILKEK IMDWRPRHLT RWNRYCTSTL RHFLPLLERS
1560 1570 1580 1590 1600
QGEDIEDDHR AELLKQLGDY RFSGFPLHMP YSEVKPLVEA VYSTGVHNID
1610 1620 1630
LPNVEFALAV YIHPYPKNVL SVWIYVASLV RNR
Length:1,633
Mass (Da):187,530
Last modified:March 1, 2003 - v1
Checksum:i33C9B365385B7BFB
GO
Isoform 2 (identifier: Q8CFW7-2) [UniParc]FASTAAdd to basket

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

Show »
Length:1,584
Mass (Da):181,918
Checksum:iB419223CC2DBAF03
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti345 – 3451G → E in BAC36933 (PubMed:16141072).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4949Missing in isoform 2. 1 PublicationVSP_030925Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC032290 mRNA. Translation: AAH32290.1.
AK077658 mRNA. Translation: BAC36933.1.
CCDSiCCDS39080.1. [Q8CFW7-1]
RefSeqiNP_758478.1. NM_172274.2. [Q8CFW7-1]
UniGeneiMm.44434.
Mm.486802.

Genome annotation databases

EnsembliENSMUST00000048150; ENSMUSP00000048320; ENSMUSG00000039765. [Q8CFW7-1]
GeneIDi231214.
KEGGimmu:231214.
UCSCiuc008xhp.2. mouse. [Q8CFW7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC032290 mRNA. Translation: AAH32290.1.
AK077658 mRNA. Translation: BAC36933.1.
CCDSiCCDS39080.1. [Q8CFW7-1]
RefSeqiNP_758478.1. NM_172274.2. [Q8CFW7-1]
UniGeneiMm.44434.
Mm.486802.

3D structure databases

ProteinModelPortaliQ8CFW7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi231096. 2 interactions.
IntActiQ8CFW7. 7 interactions.
STRINGi10090.ENSMUSP00000048320.

PTM databases

PhosphoSiteiQ8CFW7.

Proteomic databases

MaxQBiQ8CFW7.
PaxDbiQ8CFW7.
PRIDEiQ8CFW7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000048150; ENSMUSP00000048320; ENSMUSG00000039765. [Q8CFW7-1]
GeneIDi231214.
KEGGimmu:231214.
UCSCiuc008xhp.2. mouse. [Q8CFW7-1]

Organism-specific databases

CTDi57545.
MGIiMGI:1924487. Cc2d2a.

Phylogenomic databases

eggNOGiKOG3639. Eukaryota.
ENOG410XQVY. LUCA.
GeneTreeiENSGT00510000046611.
HOGENOMiHOG000068028.
HOVERGENiHBG107545.
InParanoidiQ8CFW7.
KOiK19352.
OMAiVYETIGH.
OrthoDBiEOG7X3QQ6.
PhylomeDBiQ8CFW7.
TreeFamiTF324786.

Enzyme and pathway databases

ReactomeiR-MMU-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

ChiTaRSiCc2d2a. mouse.
NextBioi380457.
PROiQ8CFW7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8CFW7.
CleanExiMM_CC2D2A.
ExpressionAtlasiQ8CFW7. baseline and differential.
GenevisibleiQ8CFW7. MM.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR028928. CC2D2AN-C2.
[Graphical view]
PfamiPF00168. C2. 1 hit.
PF15625. CC2D2AN-C2. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORM 1).
    Tissue: Eye.
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 50-590 (ISOFORM 2).
    Strain: C57BL/6J.
  3. Cited for: INTERACTION WITH MKS1.
  4. "A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain."
    Chih B., Liu P., Chinn Y., Chalouni C., Komuves L.G., Hass P.E., Sandoval W., Peterson A.S.
    Nat. Cell Biol. 14:61-72(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX, FUNCTION.
  5. Cited for: FUNCTION, DISRUPTION PHENOTYPE, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX.

Entry informationi

Entry nameiC2D2A_MOUSE
AccessioniPrimary (citable) accession number: Q8CFW7
Secondary accession number(s): Q8BP57
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: March 1, 2003
Last modified: May 11, 2016
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.