Coiled-Coil Domain-Containing Protein 88C

Alternative Names

  • CCDC88C
  • Hook-Related Protein 2
  • HKRP2
  • DAPLE
  • KIAA1509

Associated Diseases

Spinocerebellar Ataxia 40
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OMIM Number

611204

NCBI Gene ID

440193

Uniprot ID

Q9P219

Length

146,522 bases

No. of Exons

34

No. of isoforms

3

Protein Name

Protein Daple

Molecular Mass

228230 Da

Amino Acid Count

2028

Genomic Location

chr14:91,271,323-91,417,844

Gene Map Locus
14q32.11-q32.12

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001080414.4:c.5922T>GLebanonchr14:91272790Likely PathogenicSpinocerebellar Ataxia 40NG_033118.2:g.150055T>G; NM_001080414.4:c.5922T>G; NP_001073883.2:p.Ser1974Arg777585873
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