RBP Type	Non-canonical_RBPs
Diseases	Disease
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	N.A.
Localizations	Stress granucle
BulkPerturb-seq

Ensembl ID	ENSG00000168014	Gene ID	26005	Accession	24564
Symbol	C2CD3	Alias	OFD14	Full Name	C2 domain containing 3 centriole elongation regulator
Status	Confidence	Length	158493 bases	Strand	Minus strand
Position	11 : 74012718 - 74171210	RNA binding domain	N.A.
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, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Protein	Domain	Pfam ID	E-value	Domain number

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID
C2CD3-207	ENST00000442398	7683	1921aa	ENSP00000404577
C2CD3-223	ENST00000680231	6977	2308aa	ENSP00000505413
C2CD3-202	ENST00000334126	7939	2353aa	ENSP00000334379
C2CD3-236	ENST00000681609	7777	427aa	ENSP00000505133
C2CD3-232	ENST00000681291	7767	129aa	ENSP00000505182
C2CD3-228	ENST00000680839	7289	129aa	ENSP00000506002
C2CD3-239	ENST00000681924	7808	1314aa	ENSP00000505101
C2CD3-226	ENST00000680665	7977	1662aa	ENSP00000505527
C2CD3-211	ENST00000538625	3128	No protein	-
C2CD3-237	ENST00000681811	7614	1537aa	ENSP00000506315
C2CD3-235	ENST00000681385	7361	129aa	ENSP00000505069
C2CD3-230	ENST00000681143	7297	2218aa	ENSP00000505970
C2CD3-219	ENST00000679415	7670	129aa	ENSP00000505672
C2CD3-220	ENST00000679906	7598	2301aa	ENSP00000505021
C2CD3-238	ENST00000681829	7206	2343aa	ENSP00000505375
C2CD3-215	ENST00000542452	1031	No protein	-
C2CD3-233	ENST00000681310	5983	1938aa	ENSP00000506236
C2CD3-201	ENST00000313663	6283	1963aa	ENSP00000323339
C2CD3-204	ENST00000414160	6007	1968aa	ENSP00000388750
C2CD3-210	ENST00000538361	6163	1937aa	ENSP00000441742
C2CD3-231	ENST00000681233	8065	No protein	-
C2CD3-221	ENST00000679940	2074	No protein	-
C2CD3-216	ENST00000542484	1091	No protein	-
C2CD3-213	ENST00000540057	556	No protein	-
C2CD3-224	ENST00000680306	3189	No protein	-
C2CD3-209	ENST00000537285	871	No protein	-
C2CD3-229	ENST00000681000	2966	No protein	-
C2CD3-203	ENST00000366334	727	No protein	-
C2CD3-205	ENST00000415191	2587	No protein	-
C2CD3-227	ENST00000680718	3216	506aa	ENSP00000505340
C2CD3-212	ENST00000539061	2640	417aa	ENSP00000445933
C2CD3-206	ENST00000436679	1134	No protein	-
C2CD3-225	ENST00000680645	2401	406aa	ENSP00000506347
C2CD3-222	ENST00000680173	2535	No protein	-
C2CD3-234	ENST00000681345	767	143aa	ENSP00000504924
C2CD3-214	ENST00000541922	936	No protein	-
C2CD3-208	ENST00000535954	574	159aa	ENSP00000439343
C2CD3-218	ENST00000544293	731	No protein	-
C2CD3-217	ENST00000542930	524	No protein	-

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID
11180	Hip	2.24926776039999E-7	17903296

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0001701	involved_in in utero embryonic development	1	IEA	Homo_sapiens(9606)	Process
GO:0001947	involved_in heart looping	1	IEA	Homo_sapiens(9606)	Process
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005813	located_in centrosome	1	IDA	Homo_sapiens(9606)	Component
GO:0005814	is_active_in centriole	2	IBA,IDA	Homo_sapiens(9606)	Component
GO:0005829	located_in cytosol	1	TAS	Homo_sapiens(9606)	Component
GO:0007420	involved_in brain development	1	IEA	Homo_sapiens(9606)	Process
GO:0008589	involved_in regulation of smoothened signaling pathway	1	IEA	Homo_sapiens(9606)	Process
GO:0016485	involved_in protein processing	1	IEA	Homo_sapiens(9606)	Process
GO:0021915	involved_in neural tube development	1	IEA	Homo_sapiens(9606)	Process
GO:0021997	involved_in neural plate axis specification	1	IEA	Homo_sapiens(9606)	Process
GO:0030162	involved_in regulation of proteolysis	1	IEA	Homo_sapiens(9606)	Process
GO:0034451	is_active_in centriolar satellite	2	IBA,IDA	Homo_sapiens(9606)	Component
GO:0036064	located_in ciliary basal body	1	IEA	Homo_sapiens(9606)	Component
GO:0042733	involved_in embryonic digit morphogenesis	1	IEA	Homo_sapiens(9606)	Process
GO:0060271	involved_in cilium assembly	1	IBA	Homo_sapiens(9606)	Process
GO:0061511	involved_in centriole elongation	2	IBA,IDA	Homo_sapiens(9606)	Process
GO:0071539	involved_in protein localization to centrosome	1	IDA	Homo_sapiens(9606)	Process
GO:1905515	involved_in non-motile cilium assembly	1	IMP	Homo_sapiens(9606)	Process