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Protein

Coiled-coil and C2 domain-containing protein 2A

Gene

CC2D2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processCilium 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

EuPathDBiHostDB:ENSG00000048342.15
HGNCiHGNC:29253 CC2D2A
MIMi612013 gene
neXtProtiNX_Q9P2K1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Meckel syndrome 6 (MKS6)3 Publications
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_0775601517T → S in MKS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780673487EnsemblClinVar.1
Joubert syndrome 9 (JBTS9)8 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 PublicationCorresponds to variant dbSNP:rs186264635EnsemblClinVar.1
Natural variantiVAR_076882507K → E in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144439937EnsemblClinVar.1
Natural variantiVAR_076883559L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754221308EnsemblClinVar.1
Natural variantiVAR_062804721P → S in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs199768782EnsemblClinVar.1
Natural variantiVAR_0768861045V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225173EnsemblClinVar.1
Natural variantiVAR_0553211096Q → H in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs863225169EnsemblClinVar.1
Natural variantiVAR_0553221122P → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs118204051EnsemblClinVar.1
Natural variantiVAR_0681691126E → K in JBTS9. 3 PublicationsCorresponds to variant dbSNP:rs1473532901Ensembl.1
Natural variantiVAR_0768871151V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225170EnsemblClinVar.1
Natural variantiVAR_0756981182W → R in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs386833755EnsemblClinVar.1
Natural variantiVAR_0768881284R → C in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs779823379EnsemblClinVar.1
Natural variantiVAR_0768891284R → H in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754586025Ensembl.1
Natural variantiVAR_0768901330R → Q in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763486732EnsemblClinVar.1
Natural variantiVAR_0768911430V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225168EnsemblClinVar.1
Natural variantiVAR_0675351447E → A in JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41. 1 PublicationCorresponds to variant dbSNP:rs387907058EnsemblClinVar.1
Natural variantiVAR_0690451520N → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs1478902342Ensembl.1
Natural variantiVAR_0553241551L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs763425007Ensembl.1
Natural variantiVAR_0628061556D → V in JBTS9. 5 PublicationsCorresponds to variant dbSNP:rs201502401EnsemblClinVar.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

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNETi57545
GeneReviewsiCC2D2A
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
ProteomicsDBi83826
83827 [Q9P2K1-2]

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 Expressed in 195 organ(s), highest expression level in right uterine tube
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
CORUMiQ9P2K1
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

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR000008 C2_dom
IPR028928 CC2D2AN-C2
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF15625 CC2D2AN-C2, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y941H0Y941_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
903Annotation score:
D6R9V3D6R9V3_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
588Annotation score:
A0A140T8Y7A0A140T8Y7_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
1,453Annotation score:
A0A0J9YXT3A0A0J9YXT3_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
142Annotation score:
A0A0J9YY35A0A0J9YY35_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
129Annotation score:
A0A0M3HER0A0A0M3HER0_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
73Annotation score:

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 PublicationCorresponds to variant dbSNP:rs186264635EnsemblClinVar.1
Natural variantiVAR_038489376E → A. Corresponds to variant dbSNP:rs16892095EnsemblClinVar.1
Natural variantiVAR_076882507K → E in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144439937EnsemblClinVar.1
Natural variantiVAR_076883559L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754221308EnsemblClinVar.1
Natural variantiVAR_038490660V → I1 PublicationCorresponds to variant dbSNP:rs16892134EnsemblClinVar.1
Natural variantiVAR_076884684L → I1 PublicationCorresponds to variant dbSNP:rs190698163EnsemblClinVar.1
Natural variantiVAR_076885701L → V1 PublicationCorresponds to variant dbSNP:rs537906621Ensembl.1
Natural variantiVAR_062804721P → S in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs199768782EnsemblClinVar.1
Natural variantiVAR_062805800K → E1 PublicationCorresponds to variant dbSNP:rs751256652Ensembl.1
Natural variantiVAR_0768861045V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225173EnsemblClinVar.1
Natural variantiVAR_0553211096Q → H in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs863225169EnsemblClinVar.1
Natural variantiVAR_0622931114T → M in MKS6 and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs386833752EnsemblClinVar.1
Natural variantiVAR_0638041116T → M in COACHS and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs267606709EnsemblClinVar.1
Natural variantiVAR_0553221122P → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs118204051EnsemblClinVar.1
Natural variantiVAR_0681691126E → K in JBTS9. 3 PublicationsCorresponds to variant dbSNP:rs1473532901Ensembl.1
Natural variantiVAR_0768871151V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225170EnsemblClinVar.1
Natural variantiVAR_0756981182W → R in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs386833755EnsemblClinVar.1
Natural variantiVAR_0768881284R → C in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs779823379EnsemblClinVar.1
Natural variantiVAR_0768891284R → H in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754586025Ensembl.1
Natural variantiVAR_0768901330R → Q in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763486732EnsemblClinVar.1
Natural variantiVAR_0768911430V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225168EnsemblClinVar.1
Natural variantiVAR_0675351447E → A in JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41. 1 PublicationCorresponds to variant dbSNP:rs387907058EnsemblClinVar.1
Natural variantiVAR_0775601517T → S in MKS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780673487EnsemblClinVar.1
Natural variantiVAR_0690451520N → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs1478902342Ensembl.1
Natural variantiVAR_0553231528R → C in JBTS9 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs118204052EnsemblClinVar.1
Natural variantiVAR_0553241551L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs763425007Ensembl.1
Natural variantiVAR_0628061556D → V in JBTS9. 5 PublicationsCorresponds to variant dbSNP:rs201502401EnsemblClinVar.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

Similar proteinsi

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
CORUMiQ9P2K1
IntActiQ9P2K1, 35 interactors
STRINGi9606.ENSP00000398391

PTM databases

iPTMnetiQ9P2K1
PhosphoSitePlusiQ9P2K1

Polymorphism and mutation databases

BioMutaiCC2D2A
DMDMi229462975

Proteomic databases

EPDiQ9P2K1
MaxQBiQ9P2K1
PaxDbiQ9P2K1
PeptideAtlasiQ9P2K1
PRIDEiQ9P2K1
ProteomicsDBi83826
83827 [Q9P2K1-2]

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
EuPathDBiHostDB:ENSG00000048342.15
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
OMAiERHWLGC
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
PROiPR:Q9P2K1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000048342 Expressed in 195 organ(s), highest expression level in right uterine tube
CleanExiHS_CC2D2A
ExpressionAtlasiQ9P2K1 baseline and differential
GenevisibleiQ9P2K1 HS

Family and domain databases

InterProiView protein in InterPro
IPR000008 C2_dom
IPR028928 CC2D2AN-C2
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF15625 CC2D2AN-C2, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiC2D2A_HUMAN
AccessioniPrimary (citable) accession number: Q9P2K1
Secondary accession number(s): A6ND97
, B3FW08, D6RB72, E7EP21, E9PEV5, Q3SYP3, Q9H8A7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 5, 2009
Last modified: October 10, 2018
This is version 122 of the entry and version 3 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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