CCDC69 coiled-coil domain containing 69 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC69provided by HGNC
Official Full Name: coiled-coil domain containing 69provided by HGNC
Primary source: HGNC:HGNC:24487
See related: Ensembl:ENSG00000198624 MIM:619288; AllianceGenome:HGNC:24487
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable microtubule binding activity. Involved in spindle midzone assembly. Located in spindle midzone. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in fat (RPKM 80.7), adrenal (RPKM 50.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (151181052..151224092, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (151719991..151763040, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (150560613..150603653, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study on <em>CCDC69</em> interfering with the prognosis of patients with breast cancer through PPAR signal pathway.
Title: Study on <em>CCDC69</em> interfering with the prognosis of patients with breast cancer through PPAR signal pathway.
CCDC69 could play an important role in regulating chemoresistance in ovarian cancer through activation of p14ARF/MDM2/p53 signaling pathway
Title: Overexpression of CCDC69 activates p14(ARF)/MDM2/p53 pathway and confers cisplatin sensitivity.
Results indicate that CCDC69 acts as a scaffold to regulate the recruitment of midzone components and the assembly of central spindles.
Title: Role of a novel coiled-coil domain-containing protein CCDC69 in regulating central spindle assembly.

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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

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

D8S2278 (e-PCR)
- UniSTS:473906

bac52338S (e-PCR)
- UniSTS:181567

WI-12039 (e-PCR)
- UniSTS:37200

SHGC-57158 (e-PCR)
- UniSTS:12115

RH45592 (e-PCR)
- UniSTS:66195

D5S2842 (e-PCR)
- UniSTS:17647

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in spindle midzone assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle midzone	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: coiled-coil domain-containing protein 69

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.