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

Gene

• Entrez ID: 440193
• Gene name: Coiled-coil and HOOK domain protein 88C
• Gene symbol: CCDC88C
• Synonyms (NCBI Gene): DAPLE, HKRP2, HYC1, KIAA1509, SCA40
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 611204
• HGNC: 19967
• e!Ensembl: ENSG00000015133

Protein

• UniProt ID: 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

Pathways

KEGG:

Wnt signaling pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CCDC88C-related disorder	Likely pathogenic	rs2544361047	RCV003226698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hydrocephalus	Likely pathogenic	rs387907321	RCV002513315	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic ataxia	Likely pathogenic	rs2139788894, rs1324937983	RCV001647219 RCV001647214	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 40	Pathogenic; Likely pathogenic	rs777488098, rs1283433071, rs2544414231, rs1475150514, rs1378659602, rs369384363, rs1555422946, rs956104232	RCV004765940 RCV005013098 RCV005013203 RCV005013204 RCV005013243 RCV005007923 RCV005010601 RCV001257574	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROCEPHALUS, CONGENITAL, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL B BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 40	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aqueductal Stenosis	Aqueductal Stenosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	36768938	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	25062847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	23535729, 25751625, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23593120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23593120	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23593120	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	36768938	Associate	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	17681599		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30726835		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29487190	Stimulate	★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	23042809, 28556411, 29225145, 29341397		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hydrocephalus	Congenital Hydrocephalus	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital non-communicating hydrocephalus	Congenital Non-Communicating Hydrocephalus	Orphanet			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	30575751		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	21054467, 24772479, 30726835		★☆☆☆☆ Found in Text Mining only
Fetal Cerebral Ventriculomegaly	Fetal Cerebral Ventriculomegaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29225145, 29341397		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrocephalus	Hydrocephalus	Pubtator	29341397, 33602173, 34092257	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrocephalus	Hydrocephalus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrocephalus	Hydrocephalus	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrocephalus Ex-Vacuo	Hydrocephalus Ex-Vacuo	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	Hydrocephalus	GENOMICS_ENGLAND_DG	21031079, 23042809		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	Hydrocephalus	ORPHANET_DG	21031079, 23042809		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	Hydrocephalus	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33208564	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23535729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23593120		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30575751		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30575751	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	30575751	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15496975, 30726835		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24772479		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	36803301	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30948426		★☆☆☆☆ Found in Text Mining only
Obstructive Hydrocephalus	Obstructive Hydrocephalus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	34092257	Associate	★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	34092257	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	29165578		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30726835		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33658578	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28882568		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	22037555		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29341397	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	33602173	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 40	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	21031079, 25062847		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia type 40	Spinocerebellar Ataxia	ORPHANET_DG	25062847		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia type 40	Spinocerebellar Ataxia	UNIPROT_DG	25062847		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia type 40	Spinocerebellar Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	33602173, 36768938	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor	Tremor	Pubtator	36768938	Associate	★☆☆☆☆ Found in Text Mining only
Vertical supranuclear gaze palsy	Supranuclear gaze palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only