CCDC88C - coiled-coil domain containing 88C Gene

Also Known as HYC1; DAPLE; HKRP2; SCA40; KIAA1509

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 440193

About CCDC88C

Cytogenetic location: 14q32.11-q32.12 Genomic coordinates (GRCh38): 14:91,271,323-91,417,820 (from NCBI)

This gene has 13 transcripts (splice variants), 271 orthologues, 5 paralogues and is associated with 5 phenotypes. Broad expression in lymph node (RPKM 9.5), spleen (RPKM 8.3) and 24 other tissues.

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 C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and Cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]

CCDC88C Products (1)

mRNA Protein Name
NM_001080414.4 NP_001073883.2 protein Daple

CCDC88C Protein Structure

HOOK

HOOK: HOOK protein (15 - 572)

  • 0
  • 400
  • 800
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  • 1600
  • 2028 a.a.
Protein Preferred Names Protein Names

protein Daple

  • Dvl-associating protein with a high frequency of leucine residues

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 40

  • Spinocerebellar Ataxia Type 40

  • SCA40

  • Ataxia, Spinocerebellar, Type 40
Hydrocephalus, Congenital, 1

  • Hydrocephaly

  • Ventriculomegaly

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

  • HYC1

  • Congenital Non-Communicating Hydrocephalus

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly

  • Congenital Obstructive Hydrocephalus

  • Hydrocephalus, Non-Syndromic, Autosomal Recessive 1

  • Hydrocephalus
Hydrocephalus

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive

  • Hydrocephalus, X-Linked

  • Hydrocephalus Adverse Event

  • Hydrocephaly Nos
Congenital Hydrocephalus

  • Hydrocephalus

  • Hydrocephalus Adverse Event

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

  • Hydrocephalus In Newborn

  • Congenital Hydrocephaly
Cerebellar Ataxia Type 41

  • Sca41
Spastic Ataxia

  • Spax

  • Ataxia, Spastic
Dystonia 26, Myoclonic

  • Myoclonic Dystonia 26

  • DYT26
Cerebellar Ataxia Type 43

  • Sca43
Lissencephaly 5

  • LIS5

  • Cobblestone Lissencephaly Without Muscular Or Ocular Involvement

  • Cobblestone Lissencephaly Without Muscular Or Eye Involvement

  • Lissencephaly Type 2 Without Muscular Or Eye Involvement

  • Lissencephaly Type 2 Without Muscular Or Ocular Involvement

  • Lissencephaly, Type 5
Episodic Kinesigenic Dyskinesia 2

  • EKD2

  • Dystonia 19

  • Dyt19
Parkinson Disease 20, Early-Onset

  • Early-Onset Parkinson Disease 20

  • PARK20

  • Parkinson'S Disease 20

  • Early-Onset Parkinson'S Disease 20

  • Parkinson Disease, Type 20, Early-Onset
Pettigrew Syndrome

  • PGS

  • Mrxs5

  • Mrx59

  • Mrxs21

  • X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

  • Mental Retardation, X-Linked, Syndromic 5

  • Mrxsf

  • Syndromic X-Linked Intellectual Disability 5

  • Fried Syndrome

  • Mental Retardation, X-Linked Syndromic 5

  • Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

  • Mental Retardation, X-Linked, Syndromic, Fried Type

  • Mental Retardation, X-Linked, Syndromic 21

  • Syndromic X-Linked Mental Retardation 21

  • Syndromic X-Linked Mental Retardation Fried Type

  • X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

  • Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An

  • Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures

  • X-Linked Syndromic Intellectual Disability 5

  • X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures

  • X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures

  • X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome

  • Mental Retardation, X-Linked Syndromic, Fried Type

  • Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures

  • Mental Retardation, X-Linked 59
Communicating Hydrocephalus

  • Acquired Communicating Hydrocephalus
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome

  • Fowler Syndrome

  • Encephaloclastic Proliferative Vasculopathy

  • Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy

  • PVHH

  • Epv

  • Cerebral Proliferative Glomeruloid Vasculopathy

  • Hydranencephaly, Fowler Type

  • Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly

  • Fowler'S Syndrome

  • Fowler Christmas Chapple Syndrome

  • Fowler Vasculopathy

  • Polycystic Ovaries Urethral Sphincter Dysfunction

  • Voiding Dysfunction And Polycystic Ovaries

  • Fowler Vasculopaty

  • Hydranencephaly Fowler Type

  • Pgv

  • Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome
D-2-Hydroxyglutaric Aciduria 1

  • D-2-Hydroxyglutaric Aciduria

  • D2HGA1

  • D-2-Hga

  • D-2-Hydroxyglutaric Acidemia

  • D2ha

  • D2hga

  • Aciduria, D-2-Hydroxyglutaric, Type 1

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
Dystonia 11, Myoclonic

  • Myoclonic Dystonia

  • Myoclonus-Dystonia Syndrome

  • DYT11

  • Myoclonic Dystonia 11

  • Alcohol-Responsive Dystonia

  • Myoclonus, Hereditary Essential

  • Dystonia-11, Myoclonic

  • Myoclonus-Dystonia

  • Dystonia 11

  • Hereditary Essential Myoclonus

  • Dystonia, Alcohol-Responsive

  • Dyt-Sgce

  • Dystonia, Alcohol Responsive

  • Dystonia-11

  • Dystonia, Myoclonic

  • Dystonia, Myoclonic, Type 11
Cerebral Degeneration

  • Brain Degeneration

  • Degenerative Brain Disorder
Dandy-Walker Syndrome

  • Dandy-Walker Malformation

  • DWS

  • Atresia Of Foramina Of Magendie And Luschka

  • Dandy-Walker Complex

  • Dandy-Walker Cyst

  • Dandy-Walker Deformity

  • Dandy Walker Cyst

  • Dw Complex

  • Dandy-Walker Syndrome Or Malformation

  • Dandy-Walker Variant

  • Mega Cisterna Magna

  • Dwm

  • Hydrocephalus, Internal, Dandy-Walker Type

  • Hydrocephalus, Noncommunicating, Dandy-Walker Type

  • Luschka-Magendie Foramina Atresia

  • Isolated Dandy-Walker Malformation

  • Mega-Cisterna Magna

  • Dandy Walker Variant

  • Atresia Of Foramen Of Luschka

  • Atresia Of Foramen Of Magendie

  • Congenital Blockage Of Foramen Magendie
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02063 CCDC88C Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CCDC88C RGD RGD:1307429
Mus musculus CCDC88C MGD MGI:1915589
Macaca mulatta CCDC88C VGNC VGNC:84321
Canis familiaris CCDC88C VGNC VGNC:38869
Felis catus CCDC88C VGNC VGNC:60524
Bos taurus CCDC88C VGNC VGNC:55038
Others CCDC88C NCBI