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Q9P2K1 (C2D2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil and C2 domain-containing protein 2A
Gene names
Name:CC2D2A
Synonyms:KIAA1345
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1620 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Subunit structure

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

Subcellular location

Cytoplasm. Cytoplasmcytoskeletoncilium basal body. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Ref.7 Ref.10

Tissue specificity

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. Ref.7 Ref.10

Developmental stage

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. Ref.9

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.9 Ref.10 Ref.13 Ref.14

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

Sequence similarities

Contains 1 C2 domain.

Sequence caution

The sequence AAI03711.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAA92583.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB14710.1 differs from that shown. Reason: Aberrant splicing.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P2K1-4)

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.
Isoform 2 (identifier: Q9P2K1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.
     1199-1257: Missing.
Isoform 3 (identifier: Q9P2K1-5)

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.
Isoform 4 (identifier: Q9P2K1-6)

The sequence of this isoform differs from the canonical sequence as follows:
     83-111: SLPPIPSTSRTGFAEFSMRGRMREKLQAA → RELVVKKSLGRPGTVTHVCNPSTLEGRGG
     112-1620: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16201620Coiled-coil and C2 domain-containing protein 2A
PRO_0000317250

Regions

Domain1062 – 1174113C2
Coiled coil439 – 49355 Potential
Coiled coil532 – 58251 Potential
Compositional bias221 – 2299Poly-Glu
Compositional bias591 – 5966Poly-Lys
Compositional bias1491 – 14944Poly-Ala

Natural variations

Alternative sequence1 – 4949Missing in isoform 2.
VSP_030923
Alternative sequence42 – 12281PPTAV…ALLQE → KPTPFSRACWQILPHLSAGV PLLGWEHPVQGKSFQATNCC PQGNGVRKIPPWQPPGACAG GAQDPPPEYDSPERPTERAG C in isoform 3.
VSP_045255
Alternative sequence83 – 11129SLPPI…KLQAA → RELVVKKSLGRPGTVTHVCN PSTLEGRGG in isoform 4.
VSP_045453
Alternative sequence112 – 16201509Missing in isoform 4.
VSP_045454
Alternative sequence123 – 16201498Missing in isoform 3.
VSP_045256
Alternative sequence1199 – 125759Missing in isoform 2.
VSP_037223
Natural variant3761E → A.
Corresponds to variant rs16892095 [ dbSNP | Ensembl ].
VAR_038489
Natural variant6601V → I.
Corresponds to variant rs16892134 [ dbSNP | Ensembl ].
VAR_038490
Natural variant7211P → S in JBTS9. Ref.9
VAR_062804
Natural variant8001K → E. Ref.9
VAR_062805
Natural variant10961Q → H in JBTS9. Ref.10
VAR_055321
Natural variant11141T → M in MKS6 and JBTS9. Ref.9 Ref.11
VAR_062293
Natural variant11161T → M in COACHS. Ref.12
VAR_063804
Natural variant11221P → S in JBTS9. Ref.10
VAR_055322
Natural variant11261E → K in JBTS9. Ref.13 Ref.14
VAR_068169
Natural variant14471E → A Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation C-360 in CEP41. Ref.15
VAR_067535
Natural variant15201N → S in JBTS9. Ref.14
VAR_069045
Natural variant15281R → C in JBTS9 and COACHS. Ref.10 Ref.12
VAR_055323
Natural variant15511L → P in JBTS9. Ref.10
VAR_055324
Natural variant15561D → V in JBTS9. Ref.9 Ref.13 Ref.14
VAR_062806
Natural variant15681Y → H in JBTS9. Ref.14
VAR_069046

Experimental info

Sequence conflict5241R → S in AAI03711. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 5, 2009. Version 3.
Checksum: 1AF2635A40B3EF4A

FASTA1,620186,185
        10         20         30         40         50         60 
MNPREEKVKI ITEEFIENDE DADMGRQNKN SKVRRQPRKK QPPTAVPKEM VSEKSHLGNP 

        70         80         90        100        110        120 
QEPVQEEPKT RLLSMTVRRG PRSLPPIPST SRTGFAEFSM RGRMREKLQA ARSKAESALL 

       130        140        150        160        170        180 
QEIPTPRPRR LRSPSKKELE TEFGTEPGKE VERTQQEVDS QSYSRVKFHD SARKIKPKPQ 

       190        200        210        220        230        240 
VPPGFPSAEE AYNFFTFNFD PEPEGSEEKP KARHRAGTNQ EEEEGEEEEP PAQGGGKEMD 

       250        260        270        280        290        300 
EEELLNGDDA EDFLLGLDHV ADDFVAVRPA DYESIHDRLQ MEREMLFIPS RQTVPTYKKL 

       310        320        330        340        350        360 
PENVQPRFLE DEGLYTGVRP EVARTNQNIM ENRLLMQDPE RRWFGDDGRI LALPNPIKPF 

       370        380        390        400        410        420 
PSRPPVLTQE QSIKAELETL YKKAVKYVHS SQHVIRSGDP PGNFQLDIDI SGLIFTHHPC 

       430        440        450        460        470        480 
FSREHVLAAK LAQLYDQYLA RHQRNKAKFL TDKLQALRNA VQTGLDPEKP HQSLDTIQKT 

       490        500        510        520        530        540 
INEYKSEIRQ TRKFRDAEQE KDRTLLKTII KVWKEMKSLR EFQRFTNTPL KLVLRKEKAD 

       550        560        570        580        590        600 
QKADEEAYEA EIQAEISELL EEHTEEYAQK MEEYRTSLQQ WKAWRKVQRA KKKKRKQAAE 

       610        620        630        640        650        660 
EHPGDEIAEP YPEEDLVKPS PPEPTDRAVI EQEVRERAAQ SRRRPWEPTL VPELSLAGSV 

       670        680        690        700        710        720 
TPNDQCPRAE VSRREDVKKR SVYLKVLFNN KEVSRTVSRP LGADFRVHFG QIFNLQIVNW 

       730        740        750        760        770        780 
PESLTLQVYE TVGHSSPTLL AEVFLPIPET TVVTGRAPTE EVEFSSNQHV TLDHEGVGSG 

       790        800        810        820        830        840 
VPFSFEADGS NQLTLMTSGK VSHSVAWAIG ENGIPLIPPL SQQNIGFRSA LKKADAISSI 

       850        860        870        880        890        900 
GTSGLTDMKK LAKWAAESKL DPNDPNNAPL MQLISVATSG ESYVPDFFRL EQLQQEFNFV 

       910        920        930        940        950        960 
SDQELNRSKR FRLLHLRSQE VPEFRNYKQV PVYDREIMEK VFQDYEKRLR DRNVIETKEH 

       970        980        990       1000       1010       1020 
IDTHRAIVAK YLQQVRESVI NRFLIAKQYF LLADMIVEEE VPNISILGLS LFKLAEQKRP 

      1030       1040       1050       1060       1070       1080 
LRPRRKGRKK VTAQNLSDGD IKLLVNIVRA YDIPVRKPAV SKFQQPSRSS RMFSEKHAAS 

      1090       1100       1110       1120       1130       1140 
PSTYSPTHNA DYPLGQVLVR PFVEVSFQRT VCHTTTAEGP NPSWNEELEL PFRAPNGDYS 

      1150       1160       1170       1180       1190       1200 
TASLQSVKDV VFINIFDEVL HDVLEDDRER GSGIHTRIER HWLGCVKMPF STIYFQARID 

      1210       1220       1230       1240       1250       1260 
GTFKIDIPPV LLGYSKERNM ILERGFDSVR SLSEGSYITL FITIEPQLVP GESIREKFES 

      1270       1280       1290       1300       1310       1320 
QEDEKLLQAT EKFQAECALK FPNRQCLTTV IDISGKTVFI TRYLKPLNPP QELLNVYPNN 

      1330       1340       1350       1360       1370       1380 
LQATAELVAR YVSLIPFLPD TVSFGGICDL WSTSDQFLDL LAGDEEEHAV LLCNYFLSLG 

      1390       1400       1410       1420       1430       1440 
KKAWLLMGNA IPEGPTAYVL TWEQGRYLIW NPCSGHFYGQ FDTFCPLKNV GCLIGPDNIW 

      1450       1460       1470       1480       1490       1500 
FNIQRYESPL RINFDVTRPK LWKSFFSRSL PYPGLSSVQP EELIYQRSDK AAAAELQDRI 

      1510       1520       1530       1540       1550       1560 
EKILKEKIMD WRPRHLTRWN RYCTSTLRHF LPLLEKSQGE DVEDDHRAEL LKQLGDYRFS 

      1570       1580       1590       1600       1610       1620 
GFPLHMPYSE VKPLIDAVYS TGVHNIDVPN VEFALAVYIH PYPKNVLSVW IYVASLIRNR 

« Hide

Isoform 2 [UniParc].

Checksum: DB31752F9CCB30D1
Show »

FASTA1,512173,745
Isoform 3 [UniParc].

Checksum: BA4863761435AD18
Show »

FASTA12213,641
Isoform 4 [UniParc].

Checksum: 72DDE380EFA07F1A
Show »

FASTA11112,607

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]Erratum
Noor A., Windpassinger C., Patel M., Stachowiak B., Mikhailov A., Azam M., Irfan M., Paterson A.D., Lutufullah M., Doherty D., Vincent J.B., Ayub M.
Am. J. Hum. Genet. 83:656-656(2008) [PubMed] [Europe PMC] [Abstract]
[9]"CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation."
Mougou-Zerelli S., Thomas S., Szenker E., Audollent S., Elkhartoufi N., Babarit C., Romano S., Salomon R., Amiel J., Esculpavit C., Gonzales M., Escudier E., Leheup B., Loget P., Odent S., Roume J., Gerard M., Delezoide A.-L. expand/collapse author list , Khung S., Patrier S., Cordier M.-P., Bouvier R., Martinovic J., Gubler M.-C., Boddaert N., Munnich A., Encha-Razavi F., Valente E.M., Saad A., Saunier S., Vekemans M., Attie-Bitach T.
Hum. Mutat. 30:1574-1582(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: DEVELOPMENTAL STAGE, VARIANTS JBTS9 SER-721; MET-1114 AND VAL-1556, VARIANT GLU-800.
[10]"CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290."
Gorden N.T., Arts H.H., Parisi M.A., Coene K.L.M., Letteboer S.J.F., van Beersum S.E.C., Mans D.A., Hikida A., Eckert M., Knutzen D., Alswaid A.F., Oezyurek H., Dibooglu S., Otto E.A., Liu Y., Davis E.E., Hutter C.M., Bammler T.K. expand/collapse author list , Farin F.M., Dorschner M., Topcu M., Zackai E.H., Rosenthal P., Owens K.N., Katsanis N., Vincent J.B., Hildebrandt F., Rubel E.W., Raible D.W., Knoers N.V.A.M., Chance P.F., Roepman R., Moens C.B., Glass I.A., Doherty D.
Am. J. Hum. Genet. 83:559-571(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JBTS9 HIS-1096; SER-1122; CYS-1528 AND PRO-1551, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CEP290.
[11]"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.
[12]"Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)."
Doherty D., Parisi M.A., Finn L.S., Gunay-Aygun M., Al-Mateen M., Bates D., Clericuzio C., Demir H., Dorschner M., van Essen A.J., Gahl W.A., Gentile M., Gorden N.T., Hikida A., Knutzen D., Ozyurek H., Phelps I., Rosenthal P. expand/collapse author list , Verloes A., Weigand H., Chance P.F., Dobyns W.B., Glass I.A.
J. Med. Genet. 47:8-21(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS COACHS MET-1116 AND CYS-1528.
[13]"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."
Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L., Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M., Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I., Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J., Michaud J.L.
Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JBTS9 LYS-1126 AND VAL-1556.
[14]"Mutations in TMEM231 cause Joubert syndrome in French Canadians."
Srour M., Hamdan F.F., Schwartzentruber J.A., Patry L., Ospina L.H., Shevell M.I., Desilets V., Dobrzeniecka S., Mathonnet G., Lemyre E., Massicotte C., Labuda D., Amrom D., Andermann E., Sebire G., Maranda B., Consortium F.C., Rouleau G.A., Majewski J., Michaud J.L.
J. Med. Genet. 49:636-641(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JBTS9 LYS-1126; SER-1520; VAL-1556 AND HIS-1568.
[15]"CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium."
Lee J.E., Silhavy J.L., Zaki M.S., Schroth J., Bielas S.L., Marsh S.E., Olvera J., Brancati F., Iannicelli M., Ikegami K., Schlossman A.M., Merriman B., Attie-Bitach T., Logan C.V., Glass I.A., Cluckey A., Louie C.M., Lee J.H. expand/collapse author list , Raynes H.R., Rapin I., Castroviejo I.P., Setou M., Barbot C., Boltshauser E., Nelson S.F., Hildebrandt F., Johnson C.A., Doherty D.A., Valente E.M., Gleeson J.G.
Nat. Genet. 44:193-199(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ALA-1447.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS47026.1. [Q9P2K1-4]
CCDS47027.2. [Q9P2K1-5]
CCDS54744.1. [Q9P2K1-6]
RefSeqNP_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]
UniGeneHs.590928.

3D structure databases

ProteinModelPortalQ9P2K1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121603. 1 interaction.
STRING9606.ENSP00000398391.

PTM databases

PhosphoSiteQ9P2K1.

Polymorphism databases

DMDM229462975.

Proteomic databases

PaxDbQ9P2K1.
PRIDEQ9P2K1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000389652; ENSP00000374303; ENSG00000048342. [Q9P2K1-2]
ENST00000413206; ENSP00000398391; ENSG00000048342. [Q9P2K1-4]
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]
GeneID57545.
KEGGhsa:57545.
UCSCuc003gnq.4. human.
uc003gnr.4. human.
uc003gnx.3. human. [Q9P2K1-2]
uc010idv.2. human. [Q9P2K1-4]

Organism-specific databases

CTD57545.
GeneCardsGC04P015471.
GeneReviewsCC2D2A.
HGNCHGNC:29253. CC2D2A.
HPAHPA044124.
MIM216360. phenotype.
612013. gene.
612284. phenotype.
612285. phenotype.
neXtProtNX_Q9P2K1.
Orphanet1454. Joubert syndrome with hepatic defect.
2318. Joubert syndrome with oculorenal defect.
564. Meckel syndrome.
PharmGKBPA162381194.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG246455.
HOGENOMHOG000068028.
HOVERGENHBG107545.
InParanoidQ9P2K1.
OMACLTTVTD.
PhylomeDBQ9P2K1.
TreeFamTF324786.

Gene expression databases

ArrayExpressQ9P2K1.
BgeeQ9P2K1.
CleanExHS_CC2D2A.
GenevestigatorQ9P2K1.

Family and domain databases

InterProIPR000008. C2_dom.
IPR028928. CC2D2AN-C2.
[Graphical view]
PfamPF15625. CC2D2AN-C2. 1 hit.
[Graphical view]
SMARTSM00239. C2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCC2D2A. human.
GeneWikiCC2D2A.
GenomeRNAi57545.
NextBio63996.
PROQ9P2K1.
SOURCESearch...

Entry information

Entry nameC2D2A_HUMAN
AccessionPrimary (citable) accession number: Q9P2K1
Secondary accession number(s): A6ND97 expand/collapse secondary AC list , B3FW08, D6RB72, E7EP21, E9PEV5, Q3SYP3, Q9H8A7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 5, 2009
Last modified: July 9, 2014
This is version 89 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM