CEP68

protein-coding

centrosomal protein 68

Gene summary

Enables protein domain specific binding activity and protein kinase binding activity. Involved in centriole-centriole cohesion. Located in centriolar satellite. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA0582

MANE transcript

NM_015147.3

Inheritance

—

ClinVar variants

U:140B:24

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chr2:65,056,354-65,087,004

External References & Databases

Ensembl (ENSG00000011523)

Transcript & Mutation Effects

hg38 • Region Span ~30.7 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 CEP68 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 147

not providedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015147.3. 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			3 clinvar	4 clinvar	3 clinvar	10
missense			136 clinvar	14 clinvar	3 clinvar	153
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	140	18	6	164

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 60 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015147.3	RefSeq	NP_055962.2	5	MANE Select
ENST00000377990.7	Ensembl	ENSP00000367229.2	5	MANE Select
NM_001319100.2	RefSeq	NP_001306029.1	5	Standard
NM_001319101.2	RefSeq	NP_001306030.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

centrosome cycle
centriole-centriole cohesion
protein localization to organelle

Molecular Function

protein binding
protein kinase binding
protein domain specific binding

Cellular Component

nucleus
centrosome
microtubule organizing center
cytosol
cell junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377990
Coding exons: 5
Length: 30639
Individuals with no LoFs: 125711
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 125748
p: 0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.625	457	421	1.09	0.0000242	4846
Missense (PolyPhen)		95	94.209	1.0084		1238
Synonymous	-1.10	193	175	1.11	0.0000100	1651
Loss of Function	3.57	5	23.8	0.210	0.00000103	290

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00033	0.00033	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting (PubMed:18042621). Required for localization of CDK5RAP2 to the centrosome during interphase (PubMed:24554434, PubMed:25503564). {ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:24554434, ECO:0000269|PubMed:25503564}.;

Recessive Scores

pRec: 0.0950

Intolerance Scores

LoFtool: 0.670
RVIS EVS: 0.72
RVIS percentile EVS: 85.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0564

Gene Damage Prediction

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