CEP192

protein-coding

centrosomal protein 192, the group of Protein phosphatase 1 regulatory subunits

Gene summary

Enables phosphatase binding activity. Involved in centrosome-templated microtubule nucleation; mitotic spindle assembly; and protein localization to centrosome. Located in microtubule organizing center and procentriole. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032142.4

Inheritance

—

ClinVar variants

U:343B:42

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr18:12,991,362-13,125,052

External References & Databases

Ensembl (ENSG00000101639)

Transcript & Mutation Effects

hg38 • Region Span ~133.7 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 CEP192 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 348

not providedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032142.4. 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			3 clinvar	4 clinvar	2 clinvar	9
missense			330 clinvar	32 clinvar	4 clinvar	366
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	343	36	6	385

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 57 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032142.4	RefSeq	NP_115518.3	44	MANE Select
ENST00000506447.5	Ensembl	ENSP00000427550.1	44	MANE Select
ENST00000325971.12	Ensembl	ENSP00000317156.9	35	Standard
ENST00000325971.13	Ensembl	ENSP00000317156.9	35	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
cep192	Danio rerio	Structure: trunk Quality: bent abnormal

Gene / Model

Organism

Observed Phenotype

cep192

Danio rerio

Structure: trunk

Quality: bent

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gastric Cancer Network 1
Regulation of PLK1 Activity at G2/M Transition
Recruitment of mitotic centrosome proteins and complexes
Loss of Nlp from mitotic centrosomes
Loss of proteins required for interphase microtubule organization from the centrosome

Biological Process

G2/M transition of mitotic cell cycle
response to bacterium
regulation of G2/M transition of mitotic cell cycle
negative regulation of phosphatase activity
centrosome duplication

Molecular Function

protein binding
phosphatase binding

Cellular Component

pericentriolar material
centrosome
centriole
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000506447
Coding exons: 44
Length: 133691
Individuals with no LoFs: 125535
Homozygous LoFs: 5
Heterozygous LoFs: 208
Defined: 125748
p: 0.000847

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.998	1193	1.29e+3	0.922	0.0000672	16555
Missense (PolyPhen)		306	389.93	0.78476		5212
Synonymous	0.760	460	481	0.956	0.0000270	4935
Loss of Function	5.20	57	118	0.483	0.00000634	1536

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0094	0.0046	notable
Latino/Admixed American	0.00055	0.00043	rare
Ashkenazi Jewish	0.0030	0.0029	notable
East Asian	0.00079	0.00076	rare
Finnish	0.00046	0.00042	rare
European (Non-Finnish)	0.00058	0.00050	rare
South Asian	0.00031	0.00029	rare
Other	0.00099	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:25042804, PubMed:17980596, PubMed:18207742). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:25042804, PubMed:17980596, PubMed:18207742). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804). {ECO:0000269|PubMed:17980596, ECO:0000269|PubMed:18207742, ECO:0000269|PubMed:25042804}.;

Recessive Scores

pRec: 0.109

Intolerance Scores

LoFtool: 0.850
RVIS EVS: 1.49
RVIS percentile EVS: 95.37

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.471

Gene Damage Prediction

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