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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, KIAA1345
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.1 Publication

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.2 Publications

GO - Cellular componenti

  1. TCTN-B9D complex Source: UniProtKB
  2. ciliary transition zone Source: UniProtKB
  3. cytoplasm Source: UniProtKB-SubCell
  4. cytoskeleton Source: UniProtKB-KW
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 2A
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1062 – 1174113C2
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili439 – 49355 Reviewed prediction
Add
BLAST
Coiled coili532 – 58251 Reviewed prediction
Add
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.

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.

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.
VSP_030923Add
BLAST
Alternative sequencei42 – 12281PPTAV…ALLQE → KPTPFSRACWQILPHLSAGV PLLGWEHPVQGKSFQATNCC PQGNGVRKIPPWQPPGACAG GAQDPPPEYDSPERPTERAG C in isoform 3.
VSP_045255Add
BLAST
Alternative sequencei83 – 11129SLPPI…KLQAA → RELVVKKSLGRPGTVTHVCN PSTLEGRGG in isoform 4.
VSP_045453Add
BLAST
Alternative sequencei112 – 16201509Missing in isoform 4.
VSP_045454Add
BLAST
Alternative sequencei123 – 16201498Missing in isoform 3.
VSP_045256Add
BLAST
Alternative sequencei1199 – 125759Missing in isoform 2.
VSP_037223Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti524 – 5241R → S in AAI03711. 1 Publication

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]
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]
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 ]
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 ]
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

« 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: July 9, 2014
This is version 89 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

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