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	440193
Gene name	Coiled-coil and HOOK domain protein 88C
Gene symbol	CCDC88C
Synonyms (NCBI Gene)	DAPLEHKRP2HYC1KIAA1509SCA40
Chromosome	14
Chromosome location	14q32.11-q32.12
Summary	This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its

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SNP ID	Visualize variation	Clinical significance	Consequence
rs45560241	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs61736349	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs142539336	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs151228192	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs200543687	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200769097	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201931182	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs202217944	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs369384363	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant, missense variant
rs387907320	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs387907321	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs587782989	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs786205489	C>G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1064796464	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1567043467	TG>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant

310

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017297	hsa-miR-335-5p	Microarray	18185580
MIRT023465	hsa-miR-23b-3p	Sequencing	20371350
MIRT023565	hsa-miR-1-3p	Microarray	18668037
MIRT050556	hsa-miR-20a-5p	CLASH	23622248
MIRT048817	hsa-miR-93-5p	CLASH	23622248
MIRT568148	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT568147	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT568146	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT568145	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT568144	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT568143	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT568142	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT568141	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT568140	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT568139	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT568138	hsa-miR-922	PAR-CLIP	20371350
MIRT568137	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT568136	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT445193	hsa-miR-191-5p	PAR-CLIP	22100165
MIRT139347	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT139362	hsa-miR-3659	PAR-CLIP	22100165
MIRT445192	hsa-miR-4804-3p	PAR-CLIP	22100165
MIRT445191	hsa-miR-4720-3p	PAR-CLIP	22100165
MIRT445190	hsa-miR-636	PAR-CLIP	22100165
MIRT445189	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT445187	hsa-miR-4658	PAR-CLIP	22100165
MIRT445188	hsa-miR-6790-5p	PAR-CLIP	22100165
MIRT445186	hsa-miR-218-5p	PAR-CLIP	22100165
MIRT445185	hsa-miR-6818-5p	PAR-CLIP	22100165
MIRT728039	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT728038	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT728037	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT728036	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT568148	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT568147	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT568146	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT568145	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT568144	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT568143	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT568142	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT568141	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT568140	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT568139	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT568138	hsa-miR-922	PAR-CLIP	20371350
MIRT568137	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT568136	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT445193	hsa-miR-191-5p	PAR-CLIP	22100165
MIRT139347	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT139362	hsa-miR-3659	PAR-CLIP	22100165
MIRT445192	hsa-miR-4804-3p	PAR-CLIP	22100165
MIRT445191	hsa-miR-4720-3p	PAR-CLIP	22100165
MIRT445190	hsa-miR-636	PAR-CLIP	22100165
MIRT445189	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT445187	hsa-miR-4658	PAR-CLIP	22100165
MIRT445188	hsa-miR-6790-5p	PAR-CLIP	22100165
MIRT445186	hsa-miR-218-5p	PAR-CLIP	22100165
MIRT445185	hsa-miR-6818-5p	PAR-CLIP	22100165
MIRT870134	hsa-miR-1207-3p	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT870136	hsa-miR-1243	CLIP-seq
MIRT870137	hsa-miR-1275	CLIP-seq
MIRT870138	hsa-miR-1287	CLIP-seq
MIRT870139	hsa-miR-142-3p	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT870143	hsa-miR-191	CLIP-seq
MIRT870144	hsa-miR-1910	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT870146	hsa-miR-214	CLIP-seq
MIRT870147	hsa-miR-218	CLIP-seq
MIRT870148	hsa-miR-223	CLIP-seq
MIRT870149	hsa-miR-3135b	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870152	hsa-miR-346	CLIP-seq
MIRT870153	hsa-miR-3619-5p	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870155	hsa-miR-3654	CLIP-seq
MIRT870156	hsa-miR-3670	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870159	hsa-miR-4255	CLIP-seq
MIRT870160	hsa-miR-4256	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870162	hsa-miR-4271	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870164	hsa-miR-4288	CLIP-seq
MIRT870165	hsa-miR-4328	CLIP-seq
MIRT870166	hsa-miR-4421	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT870168	hsa-miR-4525	CLIP-seq
MIRT870169	hsa-miR-4639-3p	CLIP-seq
MIRT870170	hsa-miR-4650-5p	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870172	hsa-miR-4665-5p	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT870174	hsa-miR-4690-5p	CLIP-seq
MIRT870175	hsa-miR-4723-5p	CLIP-seq
MIRT870176	hsa-miR-4725-3p	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT870179	hsa-miR-518a-5p	CLIP-seq
MIRT870180	hsa-miR-527	CLIP-seq
MIRT870181	hsa-miR-556-3p	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870183	hsa-miR-582-5p	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870185	hsa-miR-616	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870187	hsa-miR-625	CLIP-seq
MIRT870188	hsa-miR-632	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT870191	hsa-miR-761	CLIP-seq
MIRT870192	hsa-miR-873	CLIP-seq
MIRT870134	hsa-miR-1207-3p	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT1958343	hsa-miR-1271	CLIP-seq
MIRT1958344	hsa-miR-128	CLIP-seq
MIRT870138	hsa-miR-1287	CLIP-seq
MIRT1958345	hsa-miR-147	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT870144	hsa-miR-1910	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT1958346	hsa-miR-23a	CLIP-seq
MIRT1958347	hsa-miR-23b	CLIP-seq
MIRT1958348	hsa-miR-23c	CLIP-seq
MIRT1958349	hsa-miR-27a	CLIP-seq
MIRT1958350	hsa-miR-27b	CLIP-seq
MIRT1958351	hsa-miR-3124-3p	CLIP-seq
MIRT870149	hsa-miR-3135b	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT1958352	hsa-miR-3177-5p	CLIP-seq
MIRT1958353	hsa-miR-3180-5p	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870156	hsa-miR-3670	CLIP-seq
MIRT1958354	hsa-miR-374c	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870159	hsa-miR-4255	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870166	hsa-miR-4421	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT870170	hsa-miR-4650-5p	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT1958355	hsa-miR-4717-3p	CLIP-seq
MIRT1958356	hsa-miR-4755-3p	CLIP-seq
MIRT1958357	hsa-miR-4790-3p	CLIP-seq
MIRT1958358	hsa-miR-495	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT1958359	hsa-miR-513a-5p	CLIP-seq
MIRT1958360	hsa-miR-520a-5p	CLIP-seq
MIRT1958361	hsa-miR-525-5p	CLIP-seq
MIRT870181	hsa-miR-556-3p	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870183	hsa-miR-582-5p	CLIP-seq
MIRT1958362	hsa-miR-587	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT1958363	hsa-miR-655	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT1958364	hsa-miR-96	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT870136	hsa-miR-1243	CLIP-seq
MIRT2195122	hsa-miR-1250	CLIP-seq
MIRT1958343	hsa-miR-1271	CLIP-seq
MIRT870137	hsa-miR-1275	CLIP-seq
MIRT1958344	hsa-miR-128	CLIP-seq
MIRT2195123	hsa-miR-1292	CLIP-seq
MIRT2195124	hsa-miR-1302	CLIP-seq
MIRT2195125	hsa-miR-1343	CLIP-seq
MIRT870139	hsa-miR-142-3p	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT2195126	hsa-miR-1825	CLIP-seq
MIRT870144	hsa-miR-1910	CLIP-seq
MIRT2195127	hsa-miR-1913	CLIP-seq
MIRT2195128	hsa-miR-193a-3p	CLIP-seq
MIRT2195129	hsa-miR-193b	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT2195130	hsa-miR-1976	CLIP-seq
MIRT2195131	hsa-miR-199a-5p	CLIP-seq
MIRT2195132	hsa-miR-199b-5p	CLIP-seq
MIRT870148	hsa-miR-223	CLIP-seq
MIRT1958346	hsa-miR-23a	CLIP-seq
MIRT1958347	hsa-miR-23b	CLIP-seq
MIRT1958348	hsa-miR-23c	CLIP-seq
MIRT1958349	hsa-miR-27a	CLIP-seq
MIRT1958350	hsa-miR-27b	CLIP-seq
MIRT2195133	hsa-miR-298	CLIP-seq
MIRT2195134	hsa-miR-3074-5p	CLIP-seq
MIRT2195135	hsa-miR-3121-3p	CLIP-seq
MIRT1958351	hsa-miR-3124-3p	CLIP-seq
MIRT2195136	hsa-miR-3156-3p	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT1958352	hsa-miR-3177-5p	CLIP-seq
MIRT1958353	hsa-miR-3180-5p	CLIP-seq
MIRT2195137	hsa-miR-324-3p	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870152	hsa-miR-346	CLIP-seq
MIRT2195138	hsa-miR-3609	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870155	hsa-miR-3654	CLIP-seq
MIRT2195139	hsa-miR-3662	CLIP-seq
MIRT2195140	hsa-miR-3678-3p	CLIP-seq
MIRT1958354	hsa-miR-374c	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT2195141	hsa-miR-3973	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870160	hsa-miR-4256	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870162	hsa-miR-4271	CLIP-seq
MIRT2195142	hsa-miR-4279	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870164	hsa-miR-4288	CLIP-seq
MIRT2195143	hsa-miR-4298	CLIP-seq
MIRT2195144	hsa-miR-4301	CLIP-seq
MIRT2195145	hsa-miR-4313	CLIP-seq
MIRT870165	hsa-miR-4328	CLIP-seq
MIRT870166	hsa-miR-4421	CLIP-seq
MIRT2195146	hsa-miR-4464	CLIP-seq
MIRT2195147	hsa-miR-4471	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT2195148	hsa-miR-4496	CLIP-seq
MIRT2195149	hsa-miR-450b-3p	CLIP-seq
MIRT870168	hsa-miR-4525	CLIP-seq
MIRT2195150	hsa-miR-4643	CLIP-seq
MIRT2195151	hsa-miR-4655-5p	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870172	hsa-miR-4665-5p	CLIP-seq
MIRT2195152	hsa-miR-4666-5p	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT2195153	hsa-miR-4694-3p	CLIP-seq
MIRT2195154	hsa-miR-4713-3p	CLIP-seq
MIRT1958355	hsa-miR-4717-3p	CLIP-seq
MIRT2195155	hsa-miR-4722-3p	CLIP-seq
MIRT870175	hsa-miR-4723-5p	CLIP-seq
MIRT870176	hsa-miR-4725-3p	CLIP-seq
MIRT2195156	hsa-miR-4731-3p	CLIP-seq
MIRT2195157	hsa-miR-4748	CLIP-seq
MIRT2195158	hsa-miR-4757-5p	CLIP-seq
MIRT2195159	hsa-miR-4785	CLIP-seq
MIRT2195160	hsa-miR-4789-3p	CLIP-seq
MIRT1958357	hsa-miR-4790-3p	CLIP-seq
MIRT2195161	hsa-miR-4801	CLIP-seq
MIRT2195162	hsa-miR-4803	CLIP-seq
MIRT2195163	hsa-miR-483-3p	CLIP-seq
MIRT1958358	hsa-miR-495	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT1958359	hsa-miR-513a-5p	CLIP-seq
MIRT1958360	hsa-miR-520a-5p	CLIP-seq
MIRT1958361	hsa-miR-525-5p	CLIP-seq
MIRT2195164	hsa-miR-542-5p	CLIP-seq
MIRT2195165	hsa-miR-548ah	CLIP-seq
MIRT2195166	hsa-miR-548l	CLIP-seq
MIRT2195167	hsa-miR-548t	CLIP-seq
MIRT870181	hsa-miR-556-3p	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870183	hsa-miR-582-5p	CLIP-seq
MIRT1958362	hsa-miR-587	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870187	hsa-miR-625	CLIP-seq
MIRT870188	hsa-miR-632	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT2195168	hsa-miR-638	CLIP-seq
MIRT1958363	hsa-miR-655	CLIP-seq
MIRT2195169	hsa-miR-656	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT2195170	hsa-miR-769-3p	CLIP-seq
MIRT870192	hsa-miR-873	CLIP-seq
MIRT1958364	hsa-miR-96	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT1958343	hsa-miR-1271	CLIP-seq
MIRT1958344	hsa-miR-128	CLIP-seq
MIRT870138	hsa-miR-1287	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT1958364	hsa-miR-96	CLIP-seq
MIRT870160	hsa-miR-4256	CLIP-seq
MIRT870192	hsa-miR-873	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001578	Process	Microtubule bundle formation	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IPI	26126266
GO:0003341	Process	Cilium movement	IEA
GO:0003383	Process	Apical constriction	IDA	30948426
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	26126266
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005109	Function	Frizzled binding	IPI	26126266
GO:0005515	Function	Protein binding	IPI	26126266
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	25062847, 26126266
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IDA	26126266
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	IMP	30948426
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	ISS	14750955
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IBA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0031648	Process	Protein destabilization	IEA
GO:0031648	Process	Protein destabilization	ISS	14750955
GO:0035567	Process	Non-canonical Wnt signaling pathway	IMP	26126266
GO:0042802	Function	Identical protein binding	ISS	14750955
GO:0043296	Component	Apical junction complex	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IMP	25062847
GO:0046983	Function	Protein dimerization activity	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	26126266
GO:0120197	Process	Mucociliary clearance	IEA
GO:1902691	Process	Respiratory basal cell differentiation	IEA

MIM	HGNC	e!Ensembl
611204	19967	ENSG00000015133

Q9P219

Protein name

Protein Daple (Coiled-coil domain-containing protein 88C) (Dvl-associating protein with a high frequency of leucine residues) (hDaple) (Hook-related protein 2) (HkRP2)

Protein function

Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of ca

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF19047	HOOK_N	12 → 166	HOOK domain	Domain

Sequence

MDVTVSELLELFLQSPLVTWVKTFGPFGSGSQDNLTMYMDLVDGIFLNQIMLQIDPRPTN
QRINKHVNNDVNLRIQNLTILVRNIKTYYQEVLQQLIVMNLPNVLMIGRDPLSGKSMEEI
KKVLLLVLGCAVQCERKEEFIERIKQLDIETQAGIVAHIQEVTHNQENVFDLQWLELPDV
APEELEALSRSMVLHLRRLIDQRDECTELIVDLTQERDYLQAQHPPSPIKSSSADSTPSP
TSSLSSEDKQHLAVELADTKARLRRVRQELEDKTEQLVDTRHEVDQLVLELQKVKQENIQ
LAADARSARAYRDELDSLREKANRVERLELELTRCKEKLHDVDFYKARMEELREDNIILI
ETKAMLEEQLTAARARGDKVHELEKENLQLKSKLHDLELDRDTDKKRIEELLEENMVLEI
AQKQSMNESAHLGWELEQLSKNADLSDASRKSFVFELNECASSRILKLEKENQSLQSTIQ
GLRDASLVLEESGLKCGELEKENHQLSKKIEKLQTQLEREKQSNQDLETLSEELIREKEQ
LQSDMETLKADKARQIKDLEQEKDHLNRAMWSLRERSQVSSEARMKDVEKENKALHQTVT
EANGKLSQLEFEKRQLHRDLEQAKEKGERAEKLERELQRLQEENGRLARKVTSLETATEK
VEALEHESQGLQLENRTLRKSLDTLQNVSLQLEGLERDNKQLDAENLELRRLVETMRFTS
TKLAQMERENQQLEREKEELRKNVDLLKALGKKSERLELSYQSVSAENLRLQQSLESSSH
KTQTLESELGELEAERQALRRDLEALRLANAQLEGAEKDRKALEQEVAQLEKDKKLLEKE
AKRLWQQVELKDAVLDDSTAKLSAVEKESRALDKELARCRDAAGKLKELEKDNRDLTKQV
TVHARTLTTLREDLVLEKLKSQQLSSELDKLSQELEKVGLNRELLLQEDDSGSDTKYKIL
EGRNESALKTTLAMKEEKIVLLEAQMEEKASLNRQLESELQMLKKECETLRQNQGEGQHL
QNSFKHPAGKTAASHQGKEAWGPGHKEATMELLRVKDRAIELERNNAALQAEKQLLKEQL
QHLETQNVTFSSQILTLQKQSAFLQEHNTTLQTQTAKLQVENSTLSSQSAALTAQYTLLQ
NHHTAKETENESLQRQQEQLTAAYEALLQDHEHLGTLHERQSAEYEALIRQHSCLKTLHR
NLELEHKELGERHGDMLKRKAELEEREKVLTTEREALQQEQRTNALAMGENQRLRGELDR
VNFLHHQLKGEYEELHAHTKELKTSLNNAQLELNRWQARFDELKEQHQTMDISLTKLDNH
CELLSRLKGNLEEENHHLLSQIQLLSQQNQMLLEQNMENKEQYHEEQKQYIDKLNALRRH
KEKLEEKIMDQYKFYDPPPKKKNHWIGAKALVKLIKPKKEGSRERLKSTVDSPPWQLESS
DPASPAASQPLRSQAENPDTPALGSNCAEERDAHNGSVGKGPGDLKPKRGSPHRGSLDRT
DASTDLAMRSWPSELGSRTCSTSATTTAPSNSTPIARHPGRTKGYNSDDNLCEPSLEFEV
PNHRQYVSRPSSLESSRNTSSNSSPLNLKGSSEQLHGRSESFSSEDLIPSRDLATLPREA
STPGRNALGRHEYPLPRNGPLPQEGAQKRGTAPPYVGVRPCSASPSSEMVTLEEFLEESN
RSSPTHDTPSCRDDLLSDYFRKASDPPAIGGQPGPPAKKEGAKMPTNFVAPTVKMAAPTS
EGRPLKPGQYVKPNFRLTEAEAPPSVAPRQAQPPQSLSLGRPRQAPVPPASHAPASRSAS
LSRAFSLASADLLRASGPEACKQESPQKLGAPEALGGRETGSHTLQSPAPPSSHSLARER
TPLVGKAGSSCQGPGPRSRPLDTRRFSLAPPKEERLAPLHQSATAPAIATAGAGAAAAGS
GSNSQLLHFSPAAAPAARTKPKAPPRSGEVATITPVRAGLSLSEGDGVPGQGCSEGLPAK
SPGRSPDLAPHLGRALEDCSRGSVSKSSPASPEPGGDPQTVWYEYGCV

Sequence length

2028

Interactions

View interactions

	KEGG
	Wnt signaling pathway

267

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CCDC88C-related disorder	Likely pathogenic	rs2544361047	RCV003226698
Congenital hydrocephalus	Likely pathogenic	rs387907321	RCV002513315
Hydrocephalus, nonsyndromic, autosomal recessive 1	Likely pathogenic; Pathogenic	rs1283433071, rs2544414231, rs1475150514, rs1378659602, rs1409621336, rs562306188, rs387907320, rs369384363, rs387907321, rs1555422946, rs1567043467, rs1886637325	RCV005013098 RCV005013203 RCV005013204 RCV005013243 RCV003993540 RCV004547297 RCV000033087 RCV005007923 RCV000033089 RCV005010601 RCV000761562 RCV001175308
Spastic ataxia	Likely pathogenic	rs2139788894, rs1324937983	RCV001647219 RCV001647214
Spinocerebellar ataxia type 40	Pathogenic; Likely pathogenic	rs777488098, rs1283433071, rs2544414231, rs1475150514, rs1378659602, rs369384363, rs1555422946, rs956104232	RCV004765940 RCV005013098 RCV005013203 RCV005013204 RCV005013243 RCV005007923 RCV005010601 RCV001257574

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs115618934, rs112579678, rs17127245, rs150512553	RCV005915450 RCV005924748 RCV005887081 RCV005887089
Cervical cancer	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs200133047, rs769185494, rs368620913, rs201044013	RCV005931676 RCV005934848 RCV005934948 RCV005899841
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	rs7160308, rs201044013	RCV005887075 RCV005899842
Colon adenocarcinoma	Benign	rs150512553	RCV005887088
Colorectal cancer	Benign; Conflicting classifications of pathogenicity	rs17127245, rs201044013	RCV005887083 RCV005899844
Epilepsy	Conflicting classifications of pathogenicity	rs142539336	RCV005625586
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs150512553, rs201044013, rs201969326	RCV005887087 RCV005899840 RCV005903179
Gastric cancer	Uncertain significance; Benign	rs762398207, rs112579678, rs150512553	RCV005911117 RCV005924750 RCV005887095
Hepatocellular carcinoma	Benign	rs7160308, rs150512553	RCV005887074 RCV005887090
Hydrocephalus	Conflicting classifications of pathogenicity; Uncertain significance	rs142295786, rs1166585047	RCV000714897 RCV000714722
Intellectual disability	Likely benign; Conflicting classifications of pathogenicity	rs138924295, rs200244690, rs142539336	RCV005626499 RCV005626706 RCV005625587
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs115618934, rs7152930, rs112579678, rs7160308, rs201870308, rs201044013	RCV005915452 RCV005916587 RCV005924752 RCV005887079 RCV005928544 RCV005899846
Malignant lymphoma, large B-cell, diffuse	Benign	rs17127245	RCV005887082
Malignant tumor of esophagus	Benign	rs150512553	RCV005887091
Nonpapillary renal cell carcinoma	Benign	rs150512553	RCV005887092
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	rs7160308, rs756303627, rs2544353917	RCV005887076 RCV005928575 RCV005931605
Sarcoma	Benign	rs115618934, rs112579678, rs150512553	RCV005915451 RCV005924749 RCV005887094
Thymoma	Benign	rs7152930, rs112579678, rs7160308, rs17127245, rs150512553	RCV005916586 RCV005924751 RCV005887077 RCV005887084 RCV005887096
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	rs7160308, rs17127245, rs150512553, rs201044013	RCV005887078 RCV005887085 RCV005887097 RCV005899845
Uterine corpus endometrial carcinoma	Benign	rs115618934, rs7152930, rs112579678, rs7160308, rs17127245, rs201870308, rs367962388	RCV005915453 RCV005916588 RCV005924753 RCV005887080 RCV005887086 RCV005928545 RCV005928556
Uveal melanoma	Benign; Conflicting classifications of pathogenicity	rs150512553, rs201044013	RCV005887093 RCV005899843

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	36768938
Breast Neoplasms	Stimulate	23593120
Breast Neoplasms	Associate	23593120
Cerebellar Ataxia	Associate	36768938
Colorectal Neoplasms	Stimulate	29487190
Fetal Diseases	Associate	34092257
Hereditary renal agenesis	Associate	34092257
Hernia Diaphragmatic	Associate	34092257
Hydrocephalus	Associate	29341397, 33602173, 34092257
Hydrocephalus X linked	Associate	36803301
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
Melanoma	Associate	30575751
Melanoma Cutaneous Malignant	Associate	30575751
Meningomyelocele	Associate	34092257
Neoplasms	Associate	26916336
Neoplasms	Inhibit	29487190, 30575751
Neoplastic Syndromes Hereditary	Associate	34092257
Nephrotic Syndrome	Associate	36803301
Papilloma Choroid Plexus	Associate	34092257
Periventricular Nodular Heterotopia	Associate	34092257
Pulmonary Atresia	Associate	36803301
Pulmonary Disease Chronic Obstructive	Associate	33658578
Seizures	Associate	29341397
Spastic Paraplegia Hereditary	Associate	33602173
Spinocerebellar Ataxias	Associate	33602173, 36768938
Tremor	Associate	36768938

CCDC88C (coiled-coil and HOOK domain protein 88C)