CCDC181

protein-coding

coiled-coil domain containing 181

Gene summary

Predicted to enable microtubule binding activity. Predicted to be involved in manchette assembly and sperm flagellum assembly. Located in axoneme. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C1orf114

MANE transcript

NM_001300969.2

Inheritance

—

ClinVar variants

U:76B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.71

Max pathogenic AF

—

Genomic locus

chr1:169,394,870-169,460,669

External References & Databases

Ensembl (ENSG00000117477)

Transcript & Mutation Effects

hg38 • Region Span ~65.8 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 CCDC181 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 76

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001300969.2. 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			1 clinvar	1 clinvar		2
missense			73 clinvar	4 clinvar		77
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	76	5	0	81

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001300969.2	RefSeq	NP_001287898.1	5	MANE Select
ENST00000367806.8	Ensembl	ENSP00000356780.3	5	MANE Select
NM_001300968.1	RefSeq	NP_001287897.1	5	Standard
NM_001394007.1	RefSeq	NP_001380936.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

microtubule binding

Cellular Component

manchette
cytoplasm
microtubule
sperm flagellum

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000545005
Coding exons: 5
Length: 65800
Individuals with no LoFs: 125650
Homozygous LoFs: 0
Heterozygous LoFs: 96
Defined: 125746
p: 0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.662	225	255	0.883	0.0000129	3382
Missense (PolyPhen)		62	73.539	0.8431		1033
Synonymous	-0.422	94	88.9	1.06	0.00000441	881
Loss of Function	1.39	19	26.8	0.710	0.00000175	303

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00048	0.00046	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00083	0.00082	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00034	0.00033	rare
South Asian	0.00057	0.00056	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids. {ECO:0000250|UniProtKB:Q80ZU5}.;

Recessive Scores

pRec: 0.0914

Intolerance Scores

RVIS EVS: 0.31
RVIS percentile EVS: 72.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium