C2CD3 (C2 domain containing 3 centriole elongation regulator)

Gene

• Entrez ID: 26005
• Gene name: C2 domain containing 3 centriole elongation regulator
• Gene symbol: C2CD3
• Synonyms (NCBI Gene): OFD14
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs78878933	T>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149366137	T>A	Pathogenic	Splice acceptor variant
rs150291837	C>T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant
rs555646012	G>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs587777653	G>A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained
rs587777654	A>C,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs769076549	CT>-	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs774746175	A>C,G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs863225151	C>A	Pathogenic	Splice donor variant
rs1064793399	C>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, missense variant
rs1064793941	C>T	Pathogenic	Splice donor variant
rs1174615027	C>T	Pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs1565237232	C>G	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019082	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0005515	Function	Protein binding	IPI	24997988, 26496610
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	23769972
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007420	Process	Brain development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0021997	Process	Neural plate axis specification	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030162	Process	Regulation of proteolysis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA	24997988
GO:0034451	Component	Centriolar satellite	IEA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0061511	Process	Centriole elongation	IBA
GO:0061511	Process	Centriole elongation	IDA	24997988
GO:0061511	Process	Centriole elongation	IEA
GO:0071539	Process	Protein localization to centrosome	IBA
GO:0071539	Process	Protein localization to centrosome	IDA	24997988
GO:0071539	Process	Protein localization to centrosome	IEA
GO:0071539	Process	Protein localization to centrosome	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	23769972

Other IDs

• MIM: 615944
• HGNC: 24564
• e!Ensembl: ENSG00000168014

Protein

• UniProt ID: Q4AC94
• Protein name: C2 domain-containing protein 3
• Protein function: Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	789 → 918	C2 domain	Domain
  PF00168	C2	1197 → 1341	C2 domain	Domain
  PF00168	C2	1636 → 1747	C2 domain	Domain

• Sequence:

  MKQRKGQGSGGSRGRKKRGLSDISPSTSLPPLVEGQLRCFLKLTVNRVIWKIAKPPTCVL
  VRVRWWGETSDGTLFCPRDALQTEPKAVRTTTRYAIRCGPKQFTSYLTDMAVLVLEVITK
  LDGLPIGRVQINGLAQLSPTHQINGFFTIVSSTSKKLGELQVSLALEPLSETYDSYHPLP
  TTDMTENVLLSKQGFRENTEPSSTQFQVPSRPRDIHTIKIDGKELAANSSRSTTPRGKDH
  VCFAENPDTIKDSSFGLQHSLNSGQSLESVTLKGRAPRKQMSLLNSSEFQPQIRTVAKSH
  SDSCILSSNNLPTKDLLSALLEQGNKLRNAMVISAMKSSPETSMLLDQVHPPINEDSLRA
  STQIRAFSRNRFKDHIEDHLLPSTENTFWRHDTKADTRAIQLLLGSAELSQGNFWDGLGS
  PPDSPSPGSDVYCISELNDPQYDQSLLENLFYTAPKSDTSISDFLSEEDDIVPSKKISQS
  TALARSSKVLESSDHKLKKRSAGKRNRNLVEQQMLSETPEDAQTMTLSVDRLALLGRTHS
  VRIIIETMGVPPDSPQMTPGKKSYAGPPPKVTTAKKRTFFVEYHFPVGFSESGLGKTALI
  TEVVRLASSKITDGKVKFQQRFVFPVQFGGPMIEHWWNSNLTFQIYVKKTPQKKPEVIGS
  VSLSLRAVIQSELLSFSDQLPVQQENGQSPFGPLKVTMELITDNKDFTGINTKLSGNTHY
  TPLCAPTSPNKALPELNQDMTCTKNPQNLNQIHEETAKKAQNLVLPNRKSPSPVAPHPST
  FVATPASHNLVNQTNGTTKESALLLHVLLMVPDGKDFISGESEKQSPCNVYLNCKLFSTE
  EVTRSVIAWGTTQPVFNFSQVIPVSLSSKYLERLKNNVMVIETWNKVRSPGQDKLLGLVK
  LPLHQFYMSFKDAKISRLLLDAQYPVVAVDSYMPVIDVFSGHQNGSLRVFLAMGSSNQIM
  ALQRLKNEEGTLPPFSPRPAHFLDQPTAASVAMAEDRGNGLMEHCFEIHIEMVKGLAPLQ
  ATVWGEADCYVQYYFPVQHSQSSVLKGPEFLENGITLKPFRTATTLCVPDPIFNSEHHHS
  LLLPAEVPVQRLLLSAFSAQGLVPGGGVQFEIWCRYYYPNVRDQKVAKGTLPLSRICAMV
  TTQHREDVGIQTFNLPLTPRIENRKELRNQSSGLLDVGLRYRRSPRTAEGVLAARTVSIS
  VQIIRACGLQAAAKALAEREPALQFSATVGVNASVTTHLSFLPQGEQRRTHPVACSFCPE
  FSHHVEFTCNLVTQHCSGEACFLAELLEFAEVIFAVYHENTKSASDIISIESCKEYLLGV
  VKVPTKELLIKRSGITGWYPIILPEDGGLPHGLELMQKIVGGLELSISFTHRGDRERVLE
  AAEHLGWSFENSLKDFVRMDEGEPATVTISTPRLWLPIHCVLLAGHNHIHKNTYCYLRYK
  FYDHEAFWTPLKKPKESVNKKQIMVTFKASKRAEVTRGPSLLWYFREERLEIQVWRAYGN
  DSVERPHQTDSWIGSAYVDLARLGERSARTLTVSGVYPLFGRNASNLSGAALRVHVVLSS
  LSSHLEPTHELDSMDCSSHSESEQLPRRNDEVQLSPPEVISCHQKSPASTQVPCSSTTAE
  VRLTQEGPADLDGTFAVSILVERAMHLSLKGSPLTERKVSIPSCCVSFATADESSPVYTQ
  VVENTDSPIWNFQQQSRLSKELLLDPQQTLVFKVWHKGDEERVIGFASVDLSPLLSGFQF
  VCGWYNITDFSGECQGQIKVAVSPLESLIHFKEERQARRGVETSKSLIPIYSPFSFPASD
  TYAAFSSHMARQTLDQLAHASSKELDFSSPGRSDTTRSQASRHEEHVQNIRRFHESLHLQ
  GEAPLPCDDKLTTSPLSSQTSILTSLRKNLSELDQIQRYFRQKLTKPFLPLSPQTQTAIS
  QHQESCRDHLGPGASSLDPGSQCILEKSSNLVLQVSSLITDLQTITRDSQAALSSHRARS
  RSNKATTLPDAQDTEALQERCTMPDEPLVRAPDKGTDSPSPPPLEETSNGGRMLHESLRH
  AVPITRMQSSEDTEAGPAYSDEDYEEDIIEPRTLNEITTVTDKTSPWSSVISDTSEVISP
  QPDEVQREGPSCPSPGPFCREELMVKSSFLSSPERAVNPHLPRQGSPSQSLVACECEASK
  ARVGGESASANPQPIPCPTLSGAQQSSTFVGWSSPQTDQNKEPKSEAPAENEAATSELGD
  SADSFKKLPLNLASQSRRENHKGPPIDSSDIRQRQVTTGSETSTKQSLLLPGPIVVPNFF
  LPPQQLEASLRMLSLSATLPPAATTDQDKSEATRGALSQRPCRPRPNSLPLNLPEEETLR
  IARIFSSQYSQKD

• Sequence length: 2353

Pathways

Reactome:

Anchoring of the basal body to the plasma membrane

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Cerebellar vermis agenesis	familial aplasia of the vermis	rs587777653, rs863225151	N/A
Orofaciodigital Syndrome	orofaciodigital syndrome type 14	rs587777653, rs587777654, rs149366137, rs1174615027, rs1565237232	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Cerebellar Vermis	Associate	30097616
Alzheimer Disease	Associate	33797837
Ciliopathies	Associate	30097616, 33875766
Cleft Palate	Associate	27604992
Fetal Diseases	Associate	30097616
Hemangioma Cavernous Central Nervous System	Associate	24997988
Meningomyelocele	Associate	39774454
Microcephaly	Associate	24997988
Orofaciodigital Syndromes	Associate	24997988, 30097616