CCDC88C coiled-coil domain containing 88C [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC88Cprovided by HGNC
Official Full Name: coiled-coil domain containing 88Cprovided by HGNC
Primary source: HGNC:HGNC:19967
See related: Ensembl:ENSG00000015133 MIM:611204; AllianceGenome:HGNC:19967
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HYC1; DAPLE; HKRP2; SCA40; KIAA1509
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]
Expression: Broad expression in lymph node (RPKM 9.5), spleen (RPKM 8.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.11-q32.12

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (91271323..91417820, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (85496797..85643060, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (91737667..91884164, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Title: CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.
Title: A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.
Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia.
Title: Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia.
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
Title: Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Title: Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
The Daple-CK1epsilon complex regulates Dvl2 phosphorylation and canonical Wnt signaling.
Title: The Daple-CK1ε complex regulates Dvl2 phosphorylation and canonical Wnt signaling.
DAPLE protein inhibits nucleotide exchange on Galphas and Galphaq via the same motif that activates Galphai.
Title: DAPLE protein inhibits nucleotide exchange on Gα(s) and Gα(q) via the same motif that activates Gαi.
Two Isoforms of the Guanine Nucleotide Exchange Factor, Daple/CCDC88C Cooperate as Tumor Suppressors.
Title: Two Isoforms of the Guanine Nucleotide Exchange Factor, Daple/CCDC88C Cooperate as Tumor Suppressors.
Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing.
Title: Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing.
DAPLE and MPDZ function as cooperative partners at apical junctions.
Title: DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hydrocephalus, nonsyndromic, autosomal recessive 1 MedGen: C3887608 OMIM: 236600 GeneReviews: Not available	not available
Spinocerebellar ataxia type 40 MedGen: C4518336 OMIM: 616053 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S655E (e-PCR)
- UniSTS:151553

FB17H5 (e-PCR)
- UniSTS:49718

G36140 (e-PCR)
- UniSTS:14912

G35614 (e-PCR)
- UniSTS:45679

SHGC-63659 (e-PCR)
- UniSTS:47256

WI-21906 (e-PCR)
- UniSTS:71323

D14S169 (e-PCR)
- UniSTS:148393

G35778 (e-PCR)
- UniSTS:40111

SHGC-32353 (e-PCR)
- UniSTS:59855

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables PDZ domain binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IPI Inferred from Physical Interaction more info	PubMed
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway	IEA Inferred from Electronic Annotation more info
involved_in apical constriction	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium organization	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton-dependent intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule bundle formation	IEA Inferred from Electronic Annotation more info
involved_in mucociliary clearance	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of microtubule depolymerization	IEA Inferred from Electronic Annotation more info
involved_in non-canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect positive regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein destabilization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in respiratory basal cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in small GTPase-mediated signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical junction complex	IEA Inferred from Electronic Annotation more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein Daple

Names: Dvl-associating protein with a high frequency of leucine residues; hook-related protein 2; spinocerebellar ataxia 40

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033118.2 RefSeqGene

Range

5025..151522

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080414.4 → NP_001073883.2 protein Daple

See identical proteins and their annotated locations for NP_001073883.2

Status: REVIEWED

Source sequence(s)

AB040942, AK302839, AL133153, AL135818, AL137353, BX283171, DR006516

Consensus CDS

CCDS45151.1

UniProtKB/Swiss-Prot

Q69YK1, Q7L1M2, Q86SX7, Q8IYG8, Q9P219

Related

ENSP00000374507.6, ENST00000389857.11

Conserved Domains (4) summary

pfam01576
Location:329 → 1319

Myosin_tail_1; Myosin tail

pfam05622
Location:17 → 633

HOOK; HOOK protein

cl23720
Location:489 → 601

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

cl24005
Location:664 → 741

DUF2570; Protein of unknown function (DUF2570)

RNA

NR_189158.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133153, AL135818
NR_189159.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133153, AL135818

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

91271323..91417820 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536796.3 → XP_011535098.1 protein Daple isoform X1

Conserved Domains (3) summary

pfam01576
Location:293 → 1283

Myosin_tail_1; Myosin tail

cl23720
Location:453 → 565

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

cl24005
Location:628 → 705

DUF2570; Protein of unknown function (DUF2570)
XM_047431418.1 → XP_047287374.1 protein Daple isoform X2