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Q9P2K1

- C2D2A_HUMAN

UniProt

Q9P2K1 - C2D2A_HUMAN

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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

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
Complete GO annotation...

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-KW
  3. cytoskeleton Source: UniProtKB-KW
  4. TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

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

MaxQBiQ9P2K1.
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

BgeeiQ9P2K1.
CleanExiHS_CC2D2A.
ExpressionAtlasiQ9P2K1. baseline and differential.
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.
GeneTreeiENSGT00510000046611.
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

        10         20         30         40         50
MNPREEKVKI ITEEFIENDE DADMGRQNKN SKVRRQPRKK QPPTAVPKEM
60 70 80 90 100
VSEKSHLGNP QEPVQEEPKT RLLSMTVRRG PRSLPPIPST SRTGFAEFSM
110 120 130 140 150
RGRMREKLQA ARSKAESALL QEIPTPRPRR LRSPSKKELE TEFGTEPGKE
160 170 180 190 200
VERTQQEVDS QSYSRVKFHD SARKIKPKPQ VPPGFPSAEE AYNFFTFNFD
210 220 230 240 250
PEPEGSEEKP KARHRAGTNQ EEEEGEEEEP PAQGGGKEMD EEELLNGDDA
260 270 280 290 300
EDFLLGLDHV ADDFVAVRPA DYESIHDRLQ MEREMLFIPS RQTVPTYKKL
310 320 330 340 350
PENVQPRFLE DEGLYTGVRP EVARTNQNIM ENRLLMQDPE RRWFGDDGRI
360 370 380 390 400
LALPNPIKPF PSRPPVLTQE QSIKAELETL YKKAVKYVHS SQHVIRSGDP
410 420 430 440 450
PGNFQLDIDI SGLIFTHHPC FSREHVLAAK LAQLYDQYLA RHQRNKAKFL
460 470 480 490 500
TDKLQALRNA VQTGLDPEKP HQSLDTIQKT INEYKSEIRQ TRKFRDAEQE
510 520 530 540 550
KDRTLLKTII KVWKEMKSLR EFQRFTNTPL KLVLRKEKAD QKADEEAYEA
560 570 580 590 600
EIQAEISELL EEHTEEYAQK MEEYRTSLQQ WKAWRKVQRA KKKKRKQAAE
610 620 630 640 650
EHPGDEIAEP YPEEDLVKPS PPEPTDRAVI EQEVRERAAQ SRRRPWEPTL
660 670 680 690 700
VPELSLAGSV TPNDQCPRAE VSRREDVKKR SVYLKVLFNN KEVSRTVSRP
710 720 730 740 750
LGADFRVHFG QIFNLQIVNW PESLTLQVYE TVGHSSPTLL AEVFLPIPET
760 770 780 790 800
TVVTGRAPTE EVEFSSNQHV TLDHEGVGSG VPFSFEADGS NQLTLMTSGK
810 820 830 840 850
VSHSVAWAIG ENGIPLIPPL SQQNIGFRSA LKKADAISSI GTSGLTDMKK
860 870 880 890 900
LAKWAAESKL DPNDPNNAPL MQLISVATSG ESYVPDFFRL EQLQQEFNFV
910 920 930 940 950
SDQELNRSKR FRLLHLRSQE VPEFRNYKQV PVYDREIMEK VFQDYEKRLR
960 970 980 990 1000
DRNVIETKEH IDTHRAIVAK YLQQVRESVI NRFLIAKQYF LLADMIVEEE
1010 1020 1030 1040 1050
VPNISILGLS LFKLAEQKRP LRPRRKGRKK VTAQNLSDGD IKLLVNIVRA
1060 1070 1080 1090 1100
YDIPVRKPAV SKFQQPSRSS RMFSEKHAAS PSTYSPTHNA DYPLGQVLVR
1110 1120 1130 1140 1150
PFVEVSFQRT VCHTTTAEGP NPSWNEELEL PFRAPNGDYS TASLQSVKDV
1160 1170 1180 1190 1200
VFINIFDEVL HDVLEDDRER GSGIHTRIER HWLGCVKMPF STIYFQARID
1210 1220 1230 1240 1250
GTFKIDIPPV LLGYSKERNM ILERGFDSVR SLSEGSYITL FITIEPQLVP
1260 1270 1280 1290 1300
GESIREKFES QEDEKLLQAT EKFQAECALK FPNRQCLTTV IDISGKTVFI
1310 1320 1330 1340 1350
TRYLKPLNPP QELLNVYPNN LQATAELVAR YVSLIPFLPD TVSFGGICDL
1360 1370 1380 1390 1400
WSTSDQFLDL LAGDEEEHAV LLCNYFLSLG KKAWLLMGNA IPEGPTAYVL
1410 1420 1430 1440 1450
TWEQGRYLIW NPCSGHFYGQ FDTFCPLKNV GCLIGPDNIW FNIQRYESPL
1460 1470 1480 1490 1500
RINFDVTRPK LWKSFFSRSL PYPGLSSVQP EELIYQRSDK AAAAELQDRI
1510 1520 1530 1540 1550
EKILKEKIMD WRPRHLTRWN RYCTSTLRHF LPLLEKSQGE DVEDDHRAEL
1560 1570 1580 1590 1600
LKQLGDYRFS GFPLHMPYSE VKPLIDAVYS TGVHNIDVPN VEFALAVYIH
1610 1620
PYPKNVLSVW IYVASLIRNR
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

MaxQBi Q9P2K1.
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.
GeneTreei ENSGT00510000046611.
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

Bgeei Q9P2K1.
CleanExi HS_CC2D2A.
ExpressionAtlasi Q9P2K1. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 91 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