CCDC186

protein-coding

coiled-coil domain containing 186, the group of MicroRNA protein coding host genes

Gene 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, Jul 2025]

Previous symbols:

C10orf118

MANE transcript

NM_018017.4

Inheritance

—

ClinVar variants

P:2U:115B:6

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.3

Max pathogenic AF

—

Genomic locus

chr10:114,120,862-114,174,232

External References & Databases

Ensembl (ENSG00000165813)

Transcript & Mutation Effects

hg38 • Region Span ~53.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC186 variants in ClinVar

14 Conditions Cataloged

Inborn genetic diseasesTotal: 108

not providedTotal: 11

CCDC186-related disorderTotal: 1

Relative macrocephalyTotal: 1

Developmental stagnationTotal: 1

Growth delayTotal: 1

Pulmonary valve stenosisTotal: 1

HypothyroidismTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018017.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			108 clinvar	4 clinvar		112
nonsense	1 clinvar		3 clinvar			4
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)		1 clinvar	3 clinvar			4
Total	1	1	115	4	2	123

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018017.4	RefSeq	NP_060487.2	15	MANE Select
ENST00000369287.8	Ensembl	ENSP00000358293.3	15	MANE Select
NM_001321829.1	RefSeq	NP_001308758.1	15	Standard
NM_153249.1	RefSeq	NP_694981.1	1	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000369287
Coding exons: 15
Length: 53359
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 125747
p: 0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.57	347	439	0.790	0.0000218	5939
Missense (PolyPhen)		96	136.65	0.70255		1877
Synonymous	-0.0739	157	156	1.01	0.00000759	1559
Loss of Function	4.60	15	50.1	0.299	0.00000294	655

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00013	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000058	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000089	0.000088	rare
South Asian	0.00016	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0956

Intolerance Scores

RVIS EVS: -0.31
RVIS percentile EVS: 32.17

Essentials

Essential (gene trap): N