CCDC186 coiled-coil domain containing 186 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC186provided by HGNC
Official Full Name: coiled-coil domain containing 186provided by HGNC
Primary source: HGNC:HGNC:24349
See related: Ensembl:ENSG00000165813 MIM:619249; AllianceGenome:HGNC:24349
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: CCCP1; CCCP-1; C10orf118; golgin104
Summary: Predicted to enable small GTPase binding activity. Predicted to be involved in vesicle cytoskeletal trafficking. Predicted to act upstream of or within insulin secretion involved in cellular response to glucose stimulus and response to bacterium. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 7.2), prostate (RPKM 7.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (114120862..114174220, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (115014500..115067844, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (115880621..115933979, complement)

Chromosome 10 - NC_000010.11 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 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?

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Title: Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Title: A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.

Submit: New GeneRIF Correction

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Clone Names

FLJ10188, FLJ35301, MGC118918, MGC129699

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in vesicle cytoskeletal trafficking	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 186

Names: CTCL tumor antigen HD-CL-01/L14-2; CTCL tumor antigen L14-2

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_001321829.1 → NP_001308758.1 coiled-coil domain-containing protein 186 isoform 1

Status: VALIDATED

Source sequence(s)

AI672382, AK024739, AK094498, BC030557, BC100670, BX537964

Consensus CDS

CCDS7587.1

UniProtKB/Swiss-Prot

Q2M2V6, Q3ZB81, Q6NS91, Q7RTP1, Q7Z3E2, Q8N117, Q8N3G3, Q8N6C2, Q9NWA3

UniProtKB/TrEMBL

E7ENY5, Q496Y1

Related

ENSP00000498136.1, ENST00000648613.1

Conserved Domains (1) summary

cl25732
Location:208 → 594

SMC_N; RecF/RecN/SMC N terminal domain
NM_018017.4 → NP_060487.2 coiled-coil domain-containing protein 186 isoform 1

See identical proteins and their annotated locations for NP_060487.2

Status: VALIDATED

Source sequence(s)

AI672382, AK024739, AK094498, AL834368, BC030557, BX537964, BX643041

Consensus CDS

CCDS7587.1

UniProtKB/Swiss-Prot

Q2M2V6, Q3ZB81, Q6NS91, Q7RTP1, Q7Z3E2, Q8N117, Q8N3G3, Q8N6C2, Q9NWA3

UniProtKB/TrEMBL

E7ENY5, Q496Y1

Related

ENSP00000358293.3, ENST00000369287.8

Conserved Domains (1) summary

cl25732
Location:208 → 594

SMC_N; RecF/RecN/SMC N terminal domain
NM_153249.1 → NP_694981.1 coiled-coil domain-containing protein 186 isoform 2

Status: VALIDATED

Source sequence(s)

AK092620, BC030557

Consensus CDS

CCDS81506.1

UniProtKB/TrEMBL

A0A0C4DFU7

Related

ENSP00000358291.3, ENST00000369285.7

RNA

NR_135815.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC022023, AI672382, AK024739, AK094498, BC030557, BC103504, BX537964

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

114120862..114174220 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539915.4 → XP_011538217.1 coiled-coil domain-containing protein 186 isoform X1

Conserved Domains (1) summary

cl19219
Location:247 → 332

DUF342; Protein of unknown function (DUF342)
XM_011539916.4 → XP_011538218.1 coiled-coil domain-containing protein 186 isoform X2

Conserved Domains (1) summary

cl19219
Location:323 → 409

DUF342; Protein of unknown function (DUF342)

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

115014500..115067844 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366166.1 → XP_054222141.1 coiled-coil domain-containing protein 186 isoform X1
XM_054366167.1 → XP_054222142.1 coiled-coil domain-containing protein 186 isoform X2