• Gene id: 26005

Gene Summary

• Gene Symbol: C2CD3   Gene   UCSC   Ensembl
• Aliases: OFD14
• Gene name: C2 domain containing 3 centriole elongation regulator
• Alternate names: C2 domain-containing protein 3, C2 calcium dependent domain containing 3,
• Gene location: 11q13.4 (74171209: 74012577)     Exons: 40     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, i
• OMIM: 615944

Protein Summary

• Protein general information: Q4AC94  
  • Name: C2 domain containing protein 3
  • Length: 2353  
  • Mass: 260389
• Sequence:

  MKQRKGQGSGGSRGRKKRGLSDISPSTSLPPLVEGQLRCFLKLTVNRVIWKIAKPPTCVLVRVRWWGETSDGTLF
  CPRDALQTEPKAVRTTTRYAIRCGPKQFTSYLTDMAVLVLEVITKLDGLPIGRVQINGLAQLSPTHQINGFFTIV
  SSTSKKLGELQVSLALEPLSETYDSYHPLPTTDMTENVLLSKQGFRENTEPSSTQFQVPSRPRDIHTIKIDGKEL
  AANSSRSTTPRGKDHVCFAENPDTIKDSSFGLQHSLNSGQSLESVTLKGRAPRKQMSLLNSSEFQPQIRTVAKSH
  SDSCILSSNNLPTKDLLSALLEQGNKLRNAMVISAMKSSPETSMLLDQVHPPINEDSLRASTQIRAFSRNRFKDH
  IEDHLLPSTENTFWRHDTKADTRAIQLLLGSAELSQGNFWDGLGSPPDSPSPGSDVYCISELNDPQYDQSLLENL
  FYTAPKSDTSISDFLSEEDDIVPSKKISQSTALARSSKVLESSDHKLKKRSAGKRNRNLVEQQMLSETPEDAQTM
  TLSVDRLALLGRTHSVRIIIETMGVPPDSPQMTPGKKSYAGPPPKVTTAKKRTFFVEYHFPVGFSESGLGKTALI
  TEVVRLASSKITDGKVKFQQRFVFPVQFGGPMIEHWWNSNLTFQIYVKKTPQKKPEVIGSVSLSLRAVIQSELLS
  FSDQLPVQQENGQSPFGPLKVTMELITDNKDFTGINTKLSGNTHYTPLCAPTSPNKALPELNQDMTCTKNPQNLN
  QIHEETAKKAQNLVLPNRKSPSPVAPHPSTFVATPASHNLVNQTNGTTKESALLLHVLLMVPDGKDFISGESEKQ
  SPCNVYLNCKLFSTEEVTRSVIAWGTTQPVFNFSQVIPVSLSSKYLERLKNNVMVIETWNKVRSPGQDKLLGLVK
  LPLHQFYMSFKDAKISRLLLDAQYPVVAVDSYMPVIDVFSGHQNGSLRVFLAMGSSNQIMALQRLKNEEGTLPPF
  SPRPAHFLDQPTAASVAMAEDRGNGLMEHCFEIHIEMVKGLAPLQATVWGEADCYVQYYFPVQHSQSSVLKGPEF
  LENGITLKPFRTATTLCVPDPIFNSEHHHSLLLPAEVPVQRLLLSAFSAQGLVPGGGVQFEIWCRYYYPNVRDQK
  VAKGTLPLSRICAMVTTQHREDVGIQTFNLPLTPRIENRKELRNQSSGLLDVGLRYRRSPRTAEGVLAARTVSIS
  VQIIRACGLQAAAKALAEREPALQFSATVGVNASVTTHLSFLPQGEQRRTHPVACSFCPEFSHHVEFTCNLVTQH
  CSGEACFLAELLEFAEVIFAVYHENTKSASDIISIESCKEYLLGVVKVPTKELLIKRSGITGWYPIILPEDGGLP
  HGLELMQKIVGGLELSISFTHRGDRERVLEAAEHLGWSFENSLKDFVRMDEGEPATVTISTPRLWLPIHCVLLAG
  HNHIHKNTYCYLRYKFYDHEAFWTPLKKPKESVNKKQIMVTFKASKRAEVTRGPSLLWYFREERLEIQVWRAYGN
  DSVERPHQTDSWIGSAYVDLARLGERSARTLTVSGVYPLFGRNASNLSGAALRVHVVLSSLSSHLEPTHELDSMD
  CSSHSESEQLPRRNDEVQLSPPEVISCHQKSPASTQVPCSSTTAEVRLTQEGPADLDGTFAVSILVERAMHLSLK
  GSPLTERKVSIPSCCVSFATADESSPVYTQVVENTDSPIWNFQQQSRLSKELLLDPQQTLVFKVWHKGDEERVIG
  FASVDLSPLLSGFQFVCGWYNITDFSGECQGQIKVAVSPLESLIHFKEERQARRGVETSKSLIPIYSPFSFPASD
  TYAAFSSHMARQTLDQLAHASSKELDFSSPGRSDTTRSQASRHEEHVQNIRRFHESLHLQGEAPLPCDDKLTTSP
  LSSQTSILTSLRKNLSELDQIQRYFRQKLTKPFLPLSPQTQTAISQHQESCRDHLGPGASSLDPGSQCILEKSSN
  LVLQVSSLITDLQTITRDSQAALSSHRARSRSNKATTLPDAQDTEALQERCTMPDEPLVRAPDKGTDSPSPPPLE
  ETSNGGRMLHESLRHAVPITRMQSSEDTEAGPAYSDEDYEEDIIEPRTLNEITTVTDKTSPWSSVISDTSEVISP
  QPDEVQREGPSCPSPGPFCREELMVKSSFLSSPERAVNPHLPRQGSPSQSLVACECEASKARVGGESASANPQPI
  PCPTLSGAQQSSTFVGWSSPQTDQNKEPKSEAPAENEAATSELGDSADSFKKLPLNLASQSRRENHKGPPIDSSD
  IRQRQVTTGSETSTKQSLLLPGPIVVPNFFLPPQQLEASLRMLSLSATLPPAATTDQDKSEATRGALSQRPCRPR
  PNSLPLNLPEEETLRIARIFSSQYSQKD

• Structural information:
  • Protein Domains: (521..67-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (787..91-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (985..114-)
    (/note="C2-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (-)
  • Interpro: IPR037775  IPR000008  IPR035892  
  • Prosite: PS50004
  • CDD: cd08683
  • STRING: ENSP00000334379
• Other Databases: GeneCards:  C2CD3  Malacards:  C2CD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061511	centriole elongation	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0071539	protein localization to centrosome	IDA	biological process
GO:0005814	centriole	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1905515	non-motile cilium assembly	IMP	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071539	protein localization to centrosome	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0034451	centriolar satellite	IEA	cellular component
GO:0030162	regulation of proteolysis	IEA	biological process
GO:0021997	neural plate axis specification	IEA	biological process
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0061511	centriole elongation	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0005814	centriole	IEA	cellular component

Diseases

Associated diseases	References
Oral-facial-digital syndrome	KEGG:H00454
Oral-facial-digital syndrome	KEGG:H00454
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)