• Gene id: 57545

Gene Summary

• Gene Symbol: CC2D2A   Gene   UCSC   Ensembl
• Aliases: JBTS9, MKS6
• Gene name: coiled-coil and C2 domain containing 2A
• Alternate names: coiled-coil and C2 domain-containing protein 2A,
• Gene location: 4p15.32 (15468659: 15601556)     Exons: 40     NC_000004.12
• Gene summary(Entrez): 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 t
• OMIM: 613234

Protein Summary

• Protein general information: Q9P2K1  
  • Name: Coiled coil and C2 domain containing protein 2A
  • Length: 1620  
  • Mass: 186185
  • Tissue specificity: 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. {ECO
• Sequence:

  MNPREEKVKIITEEFIENDEDADMGRQNKNSKVRRQPRKKQPPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSM
  TVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQEIPTPRPRRLRSPSKKELETEFGTEPGKE
  VERTQQEVDSQSYSRVKFHDSARKIKPKPQVPPGFPSAEEAYNFFTFNFDPEPEGSEEKPKARHRAGTNQEEEEG
  EEEEPPAQGGGKEMDEEELLNGDDAEDFLLGLDHVADDFVAVRPADYESIHDRLQMEREMLFIPSRQTVPTYKKL
  PENVQPRFLEDEGLYTGVRPEVARTNQNIMENRLLMQDPERRWFGDDGRILALPNPIKPFPSRPPVLTQEQSIKA
  ELETLYKKAVKYVHSSQHVIRSGDPPGNFQLDIDISGLIFTHHPCFSREHVLAAKLAQLYDQYLARHQRNKAKFL
  TDKLQALRNAVQTGLDPEKPHQSLDTIQKTINEYKSEIRQTRKFRDAEQEKDRTLLKTIIKVWKEMKSLREFQRF
  TNTPLKLVLRKEKADQKADEEAYEAEIQAEISELLEEHTEEYAQKMEEYRTSLQQWKAWRKVQRAKKKKRKQAAE
  EHPGDEIAEPYPEEDLVKPSPPEPTDRAVIEQEVRERAAQSRRRPWEPTLVPELSLAGSVTPNDQCPRAEVSRRE
  DVKKRSVYLKVLFNNKEVSRTVSRPLGADFRVHFGQIFNLQIVNWPESLTLQVYETVGHSSPTLLAEVFLPIPET
  TVVTGRAPTEEVEFSSNQHVTLDHEGVGSGVPFSFEADGSNQLTLMTSGKVSHSVAWAIGENGIPLIPPLSQQNI
  GFRSALKKADAISSIGTSGLTDMKKLAKWAAESKLDPNDPNNAPLMQLISVATSGESYVPDFFRLEQLQQEFNFV
  SDQELNRSKRFRLLHLRSQEVPEFRNYKQVPVYDREIMEKVFQDYEKRLRDRNVIETKEHIDTHRAIVAKYLQQV
  RESVINRFLIAKQYFLLADMIVEEEVPNISILGLSLFKLAEQKRPLRPRRKGRKKVTAQNLSDGDIKLLVNIVRA
  YDIPVRKPAVSKFQQPSRSSRMFSEKHAASPSTYSPTHNADYPLGQVLVRPFVEVSFQRTVCHTTTAEGPNPSWN
  EELELPFRAPNGDYSTASLQSVKDVVFINIFDEVLHDVLEDDRERGSGIHTRIERHWLGCVKMPFSTIYFQARID
  GTFKIDIPPVLLGYSKERNMILERGFDSVRSLSEGSYITLFITIEPQLVPGESIREKFESQEDEKLLQATEKFQA
  ECALKFPNRQCLTTVIDISGKTVFITRYLKPLNPPQELLNVYPNNLQATAELVARYVSLIPFLPDTVSFGGICDL
  WSTSDQFLDLLAGDEEEHAVLLCNYFLSLGKKAWLLMGNAIPEGPTAYVLTWEQGRYLIWNPCSGHFYGQFDTFC
  PLKNVGCLIGPDNIWFNIQRYESPLRINFDVTRPKLWKSFFSRSLPYPGLSSVQPEELIYQRSDKAAAAELQDRI
  EKILKEKIMDWRPRHLTRWNRYCTSTLRHFLPLLEKSQGEDVEDDHRAELLKQLGDYRFSGFPLHMPYSEVKPLI
  DAVYSTGVHNIDVPNVEFALAVYIHPYPKNVLSVWIYVASLIRNR

• Structural information:
  • Protein Domains: (1025..120-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR028928  IPR041510  
  • Prosite: PS50004
  • STRING: ENSP00000403465
• Other Databases: GeneCards:  CC2D2A  Malacards:  CC2D2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	ISS	biological process
GO:0035869	ciliary transition zone	ISS	cellular component
GO:0036038	MKS complex	ISS	cellular component
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:1904491	protein localization to ciliary transition zone	IEA	biological process
GO:0044458	motile cilium assembly	IEA	biological process
GO:0036038	MKS complex	IEA	cellular component
GO:0035082	axoneme assembly	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:1990403	embryonic brain development	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
COACH syndrome	KEGG:H01001
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
COACH syndrome	KEGG:H01001
Joubert syndrome	PMID:22241855
Intellectual disability	PMID:22023432
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq