CC2D2A

Protein identityUniProt · HPA

UniProt accession

Q9P2K1

Gene

CC2D2A

Ensembl

ENSG00000048342

Chromosome

4

Canonical length

1620 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Perinuclear theca,Connecting piece,Mid piece,Principal piece

OverviewNCBI Gene

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

1620 residues, UniProt reviewed canonical sequence.

>Q9P2K1|CC2D2A
     1  MNPREEKVKI ITEEFIENDE DADMGRQNKN SKVRRQPRKK QPPTAVPKEM VSEKSHLGNP
    61  QEPVQEEPKT RLLSMTVRRG PRSLPPIPST SRTGFAEFSM RGRMREKLQA ARSKAESALL
   121  QEIPTPRPRR LRSPSKKELE TEFGTEPGKE VERTQQEVDS QSYSRVKFHD SARKIKPKPQ
   181  VPPGFPSAEE AYNFFTFNFD PEPEGSEEKP KARHRAGTNQ EEEEGEEEEP PAQGGGKEMD
   241  EEELLNGDDA EDFLLGLDHV ADDFVAVRPA DYESIHDRLQ MEREMLFIPS RQTVPTYKKL
   301  PENVQPRFLE DEGLYTGVRP EVARTNQNIM ENRLLMQDPE RRWFGDDGRI LALPNPIKPF
   361  PSRPPVLTQE QSIKAELETL YKKAVKYVHS SQHVIRSGDP PGNFQLDIDI SGLIFTHHPC
   421  FSREHVLAAK LAQLYDQYLA RHQRNKAKFL TDKLQALRNA VQTGLDPEKP HQSLDTIQKT
   481  INEYKSEIRQ TRKFRDAEQE KDRTLLKTII KVWKEMKSLR EFQRFTNTPL KLVLRKEKAD
   541  QKADEEAYEA EIQAEISELL EEHTEEYAQK MEEYRTSLQQ WKAWRKVQRA KKKKRKQAAE
   601  EHPGDEIAEP YPEEDLVKPS PPEPTDRAVI EQEVRERAAQ SRRRPWEPTL VPELSLAGSV
   661  TPNDQCPRAE VSRREDVKKR SVYLKVLFNN KEVSRTVSRP LGADFRVHFG QIFNLQIVNW
   721  PESLTLQVYE TVGHSSPTLL AEVFLPIPET TVVTGRAPTE EVEFSSNQHV TLDHEGVGSG
   781  VPFSFEADGS NQLTLMTSGK VSHSVAWAIG ENGIPLIPPL SQQNIGFRSA LKKADAISSI
   841  GTSGLTDMKK LAKWAAESKL DPNDPNNAPL MQLISVATSG ESYVPDFFRL EQLQQEFNFV
   901  SDQELNRSKR FRLLHLRSQE VPEFRNYKQV PVYDREIMEK VFQDYEKRLR DRNVIETKEH
   961  IDTHRAIVAK YLQQVRESVI NRFLIAKQYF LLADMIVEEE VPNISILGLS LFKLAEQKRP
  1021  LRPRRKGRKK VTAQNLSDGD IKLLVNIVRA YDIPVRKPAV SKFQQPSRSS RMFSEKHAAS
  1081  PSTYSPTHNA DYPLGQVLVR PFVEVSFQRT VCHTTTAEGP NPSWNEELEL PFRAPNGDYS
  1141  TASLQSVKDV VFINIFDEVL HDVLEDDRER GSGIHTRIER HWLGCVKMPF STIYFQARID
  1201  GTFKIDIPPV LLGYSKERNM ILERGFDSVR SLSEGSYITL FITIEPQLVP GESIREKFES
  1261  QEDEKLLQAT EKFQAECALK FPNRQCLTTV IDISGKTVFI TRYLKPLNPP QELLNVYPNN
  1321  LQATAELVAR YVSLIPFLPD TVSFGGICDL WSTSDQFLDL LAGDEEEHAV LLCNYFLSLG
  1381  KKAWLLMGNA IPEGPTAYVL TWEQGRYLIW NPCSGHFYGQ FDTFCPLKNV GCLIGPDNIW
  1441  FNIQRYESPL RINFDVTRPK LWKSFFSRSL PYPGLSSVQP EELIYQRSDK AAAAELQDRI
  1501  EKILKEKIMD WRPRHLTRWN RYCTSTLRHF LPLLEKSQGE DVEDDHRAEL LKQLGDYRFS
  1561  GFPLHMPYSE VKPLIDAVYS TGVHNIDVPN VEFALAVYIH PYPKNVLSVW IYVASLIRNR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CC2D2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

78 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CC2D2A.

Disease | AllUniProt

Conditions CC2D2A is implicated in, by any mechanism.

• Meckel syndrome 6 (MKS6) MIM:612284
• Joubert syndrome 9 (JBTS9) MIM:612285
• COACH syndrome 2 (COACH2) MIM:619111
• Retinitis pigmentosa 93 (RP93) MIM:619845

Disease | GeneticClinVar

332 pathogenic / likely-pathogenic of 2,380 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Meckel-Gruber syndrome
• Joubert syndrome
• Joubert syndrome 9
• Meckel syndrome, type 6
• COACH syndrome 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.78

gnomAD pLI

0

gnomAD missense Z

0.65

DepMap mean gene effect

-0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axoneme assembly
• camera-type eye development
• cilium assembly
• determination of left/right symmetry
• embryonic brain development
• heart development
• kidney development
• motile cilium assembly
• neural tube closure
• non-motile cilium assembly
• protein localization to ciliary transition zone
• smoothened signaling pathway

Cellular components

• ciliary transition zone
• cytosol
• MKS complex

Protein domainsUniProt · Pfam · InterPro

• C2 domain
• CC2D2A, N-terminal, C2 domain
• C2 domain superfamily
• Domain of unknown function DUF5523
• Tectonic-like complex component protein
• Centrosomal protein of 76 kDa, C-terminal
• CEP76/DRC7, peptidase-like domain
• CC2D2A N-terminal C2 domain
• Family of unknown function (DUF5523)
• Centrosomal protein of 76 kDa C-terminal domain
• CEP76 peptidase-like domain

KeywordsUniProt

• Cell projection
• Ciliopathy
• Cilium
• Cilium biogenesis/degradation
• Coiled coil
• Cytoplasm
• Cytoskeleton
• Joubert syndrome
• Meckel syndrome
• Retinitis pigmentosa

InteractionsUniProt · HPA

Protein binding partners of CC2D2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MKS1
• CEP290
• B9D2