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Protein

Coiled-coil and C2 domain-containing protein 2A

Gene

CC2D2A

Organism
Homo sapiens (Human)
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 (By similarity).By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-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
Synonyms:KIAA1345
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:29253. CC2D2A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Meckel syndrome 6 (MKS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612284
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0622931114T → M in MKS6 and JBTS9. 2 PublicationsCorresponds to variant rs386833752dbSNPEnsembl.1
Joubert syndrome 9 (JBTS9)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612285
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076881117S → R in JBTS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_076882507K → E in JBTS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_076883559L → P in JBTS9. 1 Publication1
Natural variantiVAR_062804721P → S in JBTS9. 1 PublicationCorresponds to variant rs199768782dbSNPEnsembl.1
Natural variantiVAR_0768861045V → A in JBTS9. 1 Publication1
Natural variantiVAR_0553211096Q → H in JBTS9. 2 Publications1
Natural variantiVAR_0622931114T → M in MKS6 and JBTS9. 2 PublicationsCorresponds to variant rs386833752dbSNPEnsembl.1
Natural variantiVAR_0638041116T → M in COACHS and JBTS9. 2 PublicationsCorresponds to variant rs267606709dbSNPEnsembl.1
Natural variantiVAR_0553221122P → S in JBTS9. 2 PublicationsCorresponds to variant rs118204051dbSNPEnsembl.1
Natural variantiVAR_0681691126E → K in JBTS9. 3 Publications1
Natural variantiVAR_0768871151V → A in JBTS9. 1 Publication1
Natural variantiVAR_0756981182W → R in JBTS9. 1 PublicationCorresponds to variant rs386833755dbSNPEnsembl.1
Natural variantiVAR_0768881284R → C in JBTS9. 1 Publication1
Natural variantiVAR_0768891284R → H in JBTS9. 1 Publication1
Natural variantiVAR_0768901330R → Q in JBTS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_0768911430V → A in JBTS9. 1 Publication1
Natural variantiVAR_0675351447E → A in JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41. 1 PublicationCorresponds to variant rs387907058dbSNPEnsembl.1
Natural variantiVAR_0690451520N → S in JBTS9. 2 Publications1
Natural variantiVAR_0553231528R → C in JBTS9 and COACHS. 3 PublicationsCorresponds to variant rs118204052dbSNPEnsembl.1
Natural variantiVAR_0553241551L → P in JBTS9. 1 PublicationCorresponds to variant rs763425007dbSNPEnsembl.1
Natural variantiVAR_0628061556D → V in JBTS9. 5 PublicationsCorresponds to variant rs201502401dbSNPEnsembl.1
Natural variantiVAR_0690461568Y → H in JBTS9. 2 Publications1
COACH syndrome (COACHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:216360
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0638041116T → M in COACHS and JBTS9. 2 PublicationsCorresponds to variant rs267606709dbSNPEnsembl.1
Natural variantiVAR_0553231528R → C in JBTS9 and COACHS. 3 PublicationsCorresponds to variant rs118204052dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNETi57545.
MalaCardsiCC2D2A.
MIMi216360. phenotype.
612284. phenotype.
612285. phenotype.
OpenTargetsiENSG00000048342.
Orphaneti1454. Joubert syndrome with hepatic defect.
2318. Joubert syndrome with oculorenal defect.
564. Meckel syndrome.
PharmGKBiPA162381194.

Polymorphism and mutation databases

BioMutaiCC2D2A.
DMDMi229462975.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003172501 – 1620Coiled-coil and C2 domain-containing protein 2AAdd BLAST1620

Proteomic databases

EPDiQ9P2K1.
MaxQBiQ9P2K1.
PaxDbiQ9P2K1.
PeptideAtlasiQ9P2K1.
PRIDEiQ9P2K1.

PTM databases

iPTMnetiQ9P2K1.
PhosphoSitePlusiQ9P2K1.

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

BgeeiENSG00000048342.
CleanExiHS_CC2D2A.
ExpressionAtlasiQ9P2K1. baseline and differential.
GenevisibleiQ9P2K1. HS.

Organism-specific databases

HPAiHPA044124.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi121603. 36 interactors.
IntActiQ9P2K1. 35 interactors.
STRINGi9606.ENSP00000398391.

Structurei

3D structure databases

ProteinModelPortaliQ9P2K1.
SMRiQ9P2K1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1062 – 1174C2Add BLAST113

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili439 – 493Sequence analysisAdd BLAST55
Coiled coili532 – 582Sequence analysisAdd BLAST51

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi221 – 229Poly-Glu9
Compositional biasi591 – 596Poly-Lys6
Compositional biasi1491 – 1494Poly-Ala4

Sequence similaritiesi

Contains 1 C2 domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3639. Eukaryota.
ENOG410XQVY. LUCA.
GeneTreeiENSGT00510000046611.
HOGENOMiHOG000068028.
HOVERGENiHBG107545.
InParanoidiQ9P2K1.
KOiK19352.
OMAiVYETIGH.
OrthoDBiEOG091G0IID.
PhylomeDBiQ9P2K1.
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]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti524R → S in AAI03711 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076881117S → R in JBTS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_038489376E → A.Corresponds to variant rs16892095dbSNPEnsembl.1
Natural variantiVAR_076882507K → E in JBTS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_076883559L → P in JBTS9. 1 Publication1
Natural variantiVAR_038490660V → I.1 PublicationCorresponds to variant rs16892134dbSNPEnsembl.1
Natural variantiVAR_076884684L → I.1 Publication1
Natural variantiVAR_076885701L → V.1 Publication1
Natural variantiVAR_062804721P → S in JBTS9. 1 PublicationCorresponds to variant rs199768782dbSNPEnsembl.1
Natural variantiVAR_062805800K → E.1 PublicationCorresponds to variant rs751256652dbSNPEnsembl.1
Natural variantiVAR_0768861045V → A in JBTS9. 1 Publication1
Natural variantiVAR_0553211096Q → H in JBTS9. 2 Publications1
Natural variantiVAR_0622931114T → M in MKS6 and JBTS9. 2 PublicationsCorresponds to variant rs386833752dbSNPEnsembl.1
Natural variantiVAR_0638041116T → M in COACHS and JBTS9. 2 PublicationsCorresponds to variant rs267606709dbSNPEnsembl.1
Natural variantiVAR_0553221122P → S in JBTS9. 2 PublicationsCorresponds to variant rs118204051dbSNPEnsembl.1
Natural variantiVAR_0681691126E → K in JBTS9. 3 Publications1
Natural variantiVAR_0768871151V → A in JBTS9. 1 Publication1
Natural variantiVAR_0756981182W → R in JBTS9. 1 PublicationCorresponds to variant rs386833755dbSNPEnsembl.1
Natural variantiVAR_0768881284R → C in JBTS9. 1 Publication1
Natural variantiVAR_0768891284R → H in JBTS9. 1 Publication1
Natural variantiVAR_0768901330R → Q in JBTS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_0768911430V → A in JBTS9. 1 Publication1
Natural variantiVAR_0675351447E → A in JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41. 1 PublicationCorresponds to variant rs387907058dbSNPEnsembl.1
Natural variantiVAR_0690451520N → S in JBTS9. 2 Publications1
Natural variantiVAR_0553231528R → C in JBTS9 and COACHS. 3 PublicationsCorresponds to variant rs118204052dbSNPEnsembl.1
Natural variantiVAR_0553241551L → P in JBTS9. 1 PublicationCorresponds to variant rs763425007dbSNPEnsembl.1
Natural variantiVAR_0628061556D → V in JBTS9. 5 PublicationsCorresponds to variant rs201502401dbSNPEnsembl.1
Natural variantiVAR_0690461568Y → H in JBTS9. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0309231 – 49Missing in isoform 2. 2 PublicationsAdd BLAST49
Alternative sequenceiVSP_04525542 – 122PPTAV…ALLQE → KPTPFSRACWQILPHLSAGV PLLGWEHPVQGKSFQATNCC PQGNGVRKIPPWQPPGACAG GAQDPPPEYDSPERPTERAG C in isoform 3. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_04545383 – 111SLPPI…KLQAA → RELVVKKSLGRPGTVTHVCN PSTLEGRGG in isoform 4. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_045454112 – 1620Missing in isoform 4. 1 PublicationAdd BLAST1509
Alternative sequenceiVSP_045256123 – 1620Missing in isoform 3. 1 PublicationAdd BLAST1498
Alternative sequenceiVSP_0372231199 – 1257Missing in isoform 2. 2 PublicationsAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_011512176.1. XM_011513874.2. [Q9P2K1-6]
UniGeneiHs.590928.

Genome annotation databases

EnsembliENST00000424120; ENSP00000403465; ENSG00000048342. [Q9P2K1-4]
ENST00000438599; ENSP00000401154; ENSG00000048342. [Q9P2K1-5]
ENST00000503292; ENSP00000421809; ENSG00000048342. [Q9P2K1-4]
ENST00000503658; ENSP00000426846; ENSG00000048342. [Q9P2K1-5]
ENST00000507954; ENSP00000427221; ENSG00000048342. [Q9P2K1-6]
ENST00000515124; ENSP00000424368; ENSG00000048342. [Q9P2K1-6]
GeneIDi57545.
KEGGihsa:57545.
UCSCiuc003gnq.5. human. [Q9P2K1-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_011512176.1. XM_011513874.2. [Q9P2K1-6]
UniGeneiHs.590928.

3D structure databases

ProteinModelPortaliQ9P2K1.
SMRiQ9P2K1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121603. 36 interactors.
IntActiQ9P2K1. 35 interactors.
STRINGi9606.ENSP00000398391.

PTM databases

iPTMnetiQ9P2K1.
PhosphoSitePlusiQ9P2K1.

Polymorphism and mutation databases

BioMutaiCC2D2A.
DMDMi229462975.

Proteomic databases

EPDiQ9P2K1.
MaxQBiQ9P2K1.
PaxDbiQ9P2K1.
PeptideAtlasiQ9P2K1.
PRIDEiQ9P2K1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000424120; ENSP00000403465; ENSG00000048342. [Q9P2K1-4]
ENST00000438599; ENSP00000401154; ENSG00000048342. [Q9P2K1-5]
ENST00000503292; ENSP00000421809; ENSG00000048342. [Q9P2K1-4]
ENST00000503658; ENSP00000426846; ENSG00000048342. [Q9P2K1-5]
ENST00000507954; ENSP00000427221; ENSG00000048342. [Q9P2K1-6]
ENST00000515124; ENSP00000424368; ENSG00000048342. [Q9P2K1-6]
GeneIDi57545.
KEGGihsa:57545.
UCSCiuc003gnq.5. human. [Q9P2K1-4]

Organism-specific databases

CTDi57545.
DisGeNETi57545.
GeneCardsiCC2D2A.
GeneReviewsiCC2D2A.
HGNCiHGNC:29253. CC2D2A.
HPAiHPA044124.
MalaCardsiCC2D2A.
MIMi216360. phenotype.
612013. gene.
612284. phenotype.
612285. phenotype.
neXtProtiNX_Q9P2K1.
OpenTargetsiENSG00000048342.
Orphaneti1454. Joubert syndrome with hepatic defect.
2318. Joubert syndrome with oculorenal defect.
564. Meckel syndrome.
PharmGKBiPA162381194.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3639. Eukaryota.
ENOG410XQVY. LUCA.
GeneTreeiENSGT00510000046611.
HOGENOMiHOG000068028.
HOVERGENiHBG107545.
InParanoidiQ9P2K1.
KOiK19352.
OMAiVYETIGH.
OrthoDBiEOG091G0IID.
PhylomeDBiQ9P2K1.
TreeFamiTF324786.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiCC2D2A. human.
GeneWikiiCC2D2A.
GenomeRNAii57545.
PROiQ9P2K1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000048342.
CleanExiHS_CC2D2A.
ExpressionAtlasiQ9P2K1. baseline and differential.
GenevisibleiQ9P2K1. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 112 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

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.