CFAP73

protein-coding

cilia and flagella associated protein 73, the group of Cilia and flagella associated

Gene summary

Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Predicted to be located in axonemal doublet microtubule and motile cilium. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CCDC42B

MANE transcript

NM_001144872.3

Inheritance

—

ClinVar variants

U:49B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr12:113,149,724-113,159,276

External References & Databases

Ensembl (ENSG00000186710)

Transcript & Mutation Effects

hg38 • Region Span ~9.6 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 CFAP73 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001144872.3. 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
missense			47 clinvar	3 clinvar		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	49	4	0	53

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001144872.3	RefSeq	NP_001138344.1	7	MANE Select
ENST00000335621.11	Ensembl	ENSP00000333915.6	7	MANE Select
ENST00000550918.1	Ensembl	ENSP00000447276.1	3	Standard
ENST00000865198.1	Ensembl	ENSP00000535257.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cilium movement
inner dynein arm assembly
regulation of microtubule motor activity

Molecular Function

dynein complex binding

Cellular Component

motile cilium
axonemal outer doublet

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000335621
Coding exons: 7
Length: 9419
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.873	108	137	0.790	0.00000685	1916
Missense (PolyPhen)		30	37.111	0.80838		529
Synonymous	1.56	46	61.6	0.747	0.00000311	654
Loss of Function	1.77	8	15.5	0.515	8.24e-7	178

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm. {ECO:0000250|UniProtKB:M1V4Y8}.;

Recessive Scores

pRec: 0.103

Essentials

Essential (gene trap): N