CCDC86 coiled-coil domain containing 86 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC86provided by HGNC
Official Full Name: coiled-coil domain containing 86provided by HGNC
Primary source: HGNC:HGNC:28359
See related: Ensembl:ENSG00000110104 MIM:611293; AllianceGenome:HGNC:28359
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
Also known as: Cgr1
Summary: Enables RNA binding activity. Located in chromosome; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 26.3), adrenal (RPKM 10.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (60842113..60851081)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (60792420..60802200)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (60609586..60618554)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

CCDC86 promotes the aggressive behavior of nasopharyngeal carcinoma by positively regulating EGFR and activating the PI3K/Akt signaling.
Title: CCDC86 promotes the aggressive behavior of nasopharyngeal carcinoma by positively regulating EGFR and activating the PI3K/Akt signaling.
CCDC86 is a novel Ki-67-interacting protein important for cell division.
Title: CCDC86 is a novel Ki-67-interacting protein important for cell division.
Cyclon/CCDC68 levels correlate with the clinical presentation of relapsed schizophrenia
Title: Expression and differential response to haloperidol treatment of Cyclon/CCDC86 mRNA in schizophrenia patients.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
cyclon gene encodes a phosphorylated nuclear protein consisting of repetitive sequences in the amino-terminus and a coiled-coil domain in the carboxyl-terminus
Title: Redundant promoter elements mediate IL-3-induced expression of a novel cytokine-inducible gene, cyclon.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. 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

RH11821 (e-PCR)
- UniSTS:42942

RH67900 (e-PCR)
- UniSTS:86731

IB1021 (e-PCR)
- UniSTS:47829

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: coiled-coil domain-containing protein 86

Names: cyclon; cytokine-induced protein with coiled-coil domain

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.

mRNA and Protein(s)

NM_024098.4 → NP_077003.1 coiled-coil domain-containing protein 86

See identical proteins and their annotated locations for NP_077003.1

Status: VALIDATED

Source sequence(s)

AP000777

Consensus CDS

CCDS7993.1

UniProtKB/Swiss-Prot

B4DY99, Q9H6F5

Related

ENSP00000227520.5, ENST00000227520.10

Conserved Domains (2) summary

pfam03879
Location:236 → 338

Cgr1; Cgr1 family

pfam05934
Location:56 → 201

MCLC; Mid-1-related chloride channel (MCLC)