Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (13)

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

Show/Hide all (1)

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

Show/Hide all (37)

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

MIM	HGNC	e!Ensembl
615944	24564	ENSG00000168014

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

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

178

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ankle flexion contracture	Likely pathogenic	rs1856949467	RCV001257347
C2CD3-related disorder	Likely pathogenic	rs2496420529, rs2496419846	RCV003416816 RCV003400343
Joubert syndrome	Pathogenic	rs587777653, rs863225151	RCV000201616 RCV000201782
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs149366137	RCV005886952
Orofaciodigital syndrome type 14	Likely pathogenic; Pathogenic	rs750328756, rs750700691, rs1565303622, rs2135493230, rs587777653, rs587777654, rs149366137, rs2496429489, rs2496410381, rs755686768, rs2496439292, rs1382351297, rs2496722228, rs1953091771, rs1174615027, rs1565237232 View all (1 more)	RCV002499813 RCV001780341 RCV001780699 RCV005410942 RCV000133545 RCV000133546 RCV000133547 RCV002510289 RCV003231052 RCV003338923 RCV003338924 RCV004587577 RCV003995165 RCV004547244 RCV000766221 RCV000766222
Rudimentary fibula	Likely pathogenic	rs1856949467	RCV001257347
See cases	Likely pathogenic	rs1189478751	RCV002252941

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs1632245, rs1632242, rs117181508, rs140307393	RCV005915694 RCV005924518 RCV005921289 RCV005895152
Adrenocortical carcinoma, hereditary	Benign	rs1632242	RCV005924520
Cervical cancer	Benign; Likely benign	rs1632242, rs117181508, rs535730474, rs140307393, rs78112562	RCV005924521 RCV005921290 RCV005926670 RCV005895154 RCV005906566
Cholangiocarcinoma	Likely benign	rs78112562	RCV005906569
Clear cell carcinoma of kidney	Benign; Likely benign	rs1632242, rs117181508, rs151035960	RCV005924522 RCV005921291 RCV005906325
Colon adenocarcinoma	Benign	rs1632245, rs1632242	RCV005915693 RCV005924517
Colorectal cancer	Benign	rs1632242	RCV005924523
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance; Likely benign	rs765019392, rs773172980	RCV004559952 RCV004558088
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs144597224, rs1632242, rs140307393, rs151035960	RCV005911112 RCV005924525 RCV005895155 RCV005906326
Hepatocellular carcinoma	Benign; Likely benign	rs1632245, rs140307393	RCV005915695 RCV005895153
Jeune thoracic dystrophy	Conflicting classifications of pathogenicity	rs150291837, rs1064793399	RCV000754955 RCV000754954
Lung cancer	Benign	rs1632245, rs1632242, rs117181508	RCV005915700 RCV005924529 RCV005921296
Malignant tumor of esophagus	Benign	rs1632242	RCV005924519
Ovarian serous cystadenocarcinoma	Benign	rs1632245, rs1632242, rs117181508	RCV005915697 RCV005924526 RCV005921293
Sarcoma	Benign; Likely benign	rs1632245, rs1632242, rs117181508, rs78112562	RCV005915696 RCV005924524 RCV005921292 RCV005906567
Thymoma	Benign; Likely benign	rs1632245, rs1632242, rs117181508, rs140307393, rs78112562	RCV005915698 RCV005924527 RCV005921295 RCV005895157 RCV005906568
Thyroid cancer, nonmedullary, 1	Benign; Uncertain significance; Likely benign	rs1632245, rs1632242, rs111283673, rs140307393	RCV005915699 RCV005924528 RCV005928367 RCV005895158
Uterine carcinosarcoma	Benign; Likely benign	rs117181508, rs140307393	RCV005921294 RCV005895156
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs1632245, rs1632242, rs117181508, rs140307393, rs78112562	RCV005915701 RCV005924530 RCV005921297 RCV005895159 RCV005906570

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

C2CD3 (C2 domain containing 3 centriole elongation regulator)