CEP44

protein-coding

centrosomal protein 44

Gene summary

Enables microtubule binding activity. Involved in centriole replication and centriole-centriole cohesion. Located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA1712

MANE transcript

NM_001040157.3

Inheritance

—

ClinVar variants

U:40B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr4:174,283,730-174,333,380

External References & Databases

Ensembl (ENSG00000164118)

Transcript & Mutation Effects

hg38 • Region Span ~49.7 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 CEP44 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001040157.3. 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			38 clinvar	5 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	40	6	0	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 64 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001040157.3	RefSeq	NP_001035247.1	10	MANE Select
ENST00000503780.6	Ensembl	ENSP00000423153.1	10	MANE Select
NM_001145314.2	RefSeq	NP_001138786.1	9	Standard
ENST00000296519.6	Ensembl	ENSP00000296519.4	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

spindle pole
cytoplasm
centrosome
midbody

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000457424
Coding exons: 9
Length: 49704
Individuals with no LoFs: 125688
Homozygous LoFs: 0
Heterozygous LoFs: 30
Defined: 125718
p: 0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.493	184	204	0.903	0.00000998	2622
Missense (PolyPhen)		57	63.347	0.89981		849
Synonymous	0.552	63	68.8	0.915	0.00000329	731
Loss of Function	1.06	13	17.8	0.730	8.47e-7	242

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00037	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000089	0.000088	rare
South Asian	0.00023	0.00020	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0992

Intolerance Scores

RVIS EVS: 1.33
RVIS percentile EVS: 94.17

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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