• Gene id: 440193

Gene Summary

• Gene Symbol: CCDC88C   Gene   UCSC   Ensembl
• Aliases: DAPLE, HKRP2, HYC1, KIAA1509, SCA40
• Gene name: coiled-coil domain containing 88C
• Alternate names: protein Daple, Dvl-associating protein with a high frequency of leucine residues, hook-related protein 2, spinocerebellar ataxia 40,
• Gene location: 14q32.11-q32.12 (91417819: 91271322)     Exons: 34     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 607243

Protein Summary

• Protein general information: Q9P219  
  • 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)
  • Length: 2028  
  • Mass: 228230
• Sequence:

  MDVTVSELLELFLQSPLVTWVKTFGPFGSGSQDNLTMYMDLVDGIFLNQIMLQIDPRPTNQRINKHVNNDVNLRI
  QNLTILVRNIKTYYQEVLQQLIVMNLPNVLMIGRDPLSGKSMEEIKKVLLLVLGCAVQCERKEEFIERIKQLDIE
  TQAGIVAHIQEVTHNQENVFDLQWLELPDVAPEELEALSRSMVLHLRRLIDQRDECTELIVDLTQERDYLQAQHP
  PSPIKSSSADSTPSPTSSLSSEDKQHLAVELADTKARLRRVRQELEDKTEQLVDTRHEVDQLVLELQKVKQENIQ
  LAADARSARAYRDELDSLREKANRVERLELELTRCKEKLHDVDFYKARMEELREDNIILIETKAMLEEQLTAARA
  RGDKVHELEKENLQLKSKLHDLELDRDTDKKRIEELLEENMVLEIAQKQSMNESAHLGWELEQLSKNADLSDASR
  KSFVFELNECASSRILKLEKENQSLQSTIQGLRDASLVLEESGLKCGELEKENHQLSKKIEKLQTQLEREKQSNQ
  DLETLSEELIREKEQLQSDMETLKADKARQIKDLEQEKDHLNRAMWSLRERSQVSSEARMKDVEKENKALHQTVT
  EANGKLSQLEFEKRQLHRDLEQAKEKGERAEKLERELQRLQEENGRLARKVTSLETATEKVEALEHESQGLQLEN
  RTLRKSLDTLQNVSLQLEGLERDNKQLDAENLELRRLVETMRFTSTKLAQMERENQQLEREKEELRKNVDLLKAL
  GKKSERLELSYQSVSAENLRLQQSLESSSHKTQTLESELGELEAERQALRRDLEALRLANAQLEGAEKDRKALEQ
  EVAQLEKDKKLLEKEAKRLWQQVELKDAVLDDSTAKLSAVEKESRALDKELARCRDAAGKLKELEKDNRDLTKQV
  TVHARTLTTLREDLVLEKLKSQQLSSELDKLSQELEKVGLNRELLLQEDDSGSDTKYKILEGRNESALKTTLAMK
  EEKIVLLEAQMEEKASLNRQLESELQMLKKECETLRQNQGEGQHLQNSFKHPAGKTAASHQGKEAWGPGHKEATM
  ELLRVKDRAIELERNNAALQAEKQLLKEQLQHLETQNVTFSSQILTLQKQSAFLQEHNTTLQTQTAKLQVENSTL
  SSQSAALTAQYTLLQNHHTAKETENESLQRQQEQLTAAYEALLQDHEHLGTLHERQSAEYEALIRQHSCLKTLHR
  NLELEHKELGERHGDMLKRKAELEEREKVLTTEREALQQEQRTNALAMGENQRLRGELDRVNFLHHQLKGEYEEL
  HAHTKELKTSLNNAQLELNRWQARFDELKEQHQTMDISLTKLDNHCELLSRLKGNLEEENHHLLSQIQLLSQQNQ
  MLLEQNMENKEQYHEEQKQYIDKLNALRRHKEKLEEKIMDQYKFYDPPPKKKNHWIGAKALVKLIKPKKEGSRER
  LKSTVDSPPWQLESSDPASPAASQPLRSQAENPDTPALGSNCAEERDAHNGSVGKGPGDLKPKRGSPHRGSLDRT
  DASTDLAMRSWPSELGSRTCSTSATTTAPSNSTPIARHPGRTKGYNSDDNLCEPSLEFEVPNHRQYVSRPSSLES
  SRNTSSNSSPLNLKGSSEQLHGRSESFSSEDLIPSRDLATLPREASTPGRNALGRHEYPLPRNGPLPQEGAQKRG
  TAPPYVGVRPCSASPSSEMVTLEEFLEESNRSSPTHDTPSCRDDLLSDYFRKASDPPAIGGQPGPPAKKEGAKMP
  TNFVAPTVKMAAPTSEGRPLKPGQYVKPNFRLTEAEAPPSVAPRQAQPPQSLSLGRPRQAPVPPASHAPASRSAS
  LSRAFSLASADLLRASGPEACKQESPQKLGAPEALGGRETGSHTLQSPAPPSSHSLARERTPLVGKAGSSCQGPG
  PRSRPLDTRRFSLAPPKEERLAPLHQSATAPAIATAGAGAAAAGSGSNSQLLHFSPAAAPAARTKPKAPPRSGEV
  ATITPVRAGLSLSEGDGVPGQGCSEGLPAKSPGRSPDLAPHLGRALEDCSRGSVSKSSPASPEPGGDPQTVWYEY
  GCV

• Structural information:
  • Protein Domains: (11..13-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR036872  IPR027719  IPR008636  
  • Prosite: PS50021
  • STRING: ENSP00000374507
• Other Databases: GeneCards:  CCDC88C  Malacards:  CCDC88C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0030705	cytoskeleton-dependent intracellular transport	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0005813	centrosome	IBA	cellular component
GO:0051959	dynein light intermediate chain binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031098	stress-activated protein kinase signaling cascade	IMP	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0031648	protein destabilization	IEA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0043621	protein self-association	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0003383	apical constriction	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0007264	small GTPase mediated signal transduction	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0030165	PDZ domain binding	ISS	molecular function
GO:0001932	regulation of protein phosphorylation	ISS	biological process
GO:0031648	protein destabilization	ISS	biological process
GO:0043621	protein self-association	ISS	molecular function
GO:0030054	cell junction	IMP	cellular component
GO:0035567	non-canonical Wnt signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005109	frizzled binding	IPI	molecular function
GO:0001965	G-protein alpha-subunit binding	IPI	molecular function

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Congenital hydrocephalus	KEGG:H01677
Spinocerebellar ataxia	KEGG:H00063
Congenital hydrocephalus	KEGG:H01677
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq