CEP55

protein-coding

centrosomal protein 55

Gene summary

Enables identical protein binding activity. Involved in cranial skeletal system development; establishment of protein localization; and midbody abscission. Acts upstream of or within mitotic cytokinesis. Located in Flemming body; centrosome; and cytosol. Implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C10orf3

MANE transcript

NM_018131.5

Inheritance

ClinVar variants

P:11U:77B:29

Top phenotype

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH)

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr10:93,496,612-93,529,092

External References & Databases

Ensembl (ENSG00000138180)

Transcript & Mutation Effects

hg38 • Region Span ~32.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0009359

Submitter: Ambry Genetics

complex neurodevelopmental disorderMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0100038

Submitter: Ambry Genetics

multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndromeSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0009359

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH)AR

Manifestation: Neurologic; Renal

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 28264986; 28295209

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CEP55 variants in ClinVar

7 Conditions Cataloged

Inborn genetic diseasesTotal: 65

not providedTotal: 44

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndromeTotal: 12

CEP55-related disorderTotal: 10

not specifiedTotal: 3

Abnormality of prenatal development or birthTotal: 1

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018131.5. 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			2 clinvar	12 clinvar	3 clinvar	17
missense			71 clinvar	10 clinvar	4 clinvar	85
nonsense	4 clinvar	4 clinvar	1 clinvar			9
start loss						0
frameshift	2 clinvar					2
splice donor/acceptor (+/-2bp)	1 clinvar		3 clinvar			4
Total	7	4	77	22	7	117

Highest pathogenic variant AF is 0.00044866113

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018131.5	RefSeq	NP_060601.4	8	MANE Select
ENST00000371485.8	Ensembl	ENSP00000360540.3	8	MANE Select
NM_001127182.2	RefSeq	NP_001120654.2	8	Standard
ENST00000445435.1	Ensembl	ENSP00000389150.1	4	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
cep55l	Danio rerio	Structure: proximal convoluted tubule Quality: decreased area abnormal

Gene / Model

Organism

Observed Phenotype

cep55l

Danio rerio

Structure: proximal convoluted tubule

Quality: decreased area

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitotic cytokinesis
nucleus organization
mitotic metaphase plate congression
regulation of phosphatidylinositol 3-kinase signaling
establishment of protein localization

Molecular Function

protein binding

Cellular Component

centrosome
centriole
microtubule organizing center
plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000371485
Coding exons: 8
Length: 32461
Individuals with no LoFs: 125625
Homozygous LoFs: 0
Heterozygous LoFs: 123
Defined: 125748
p: 0.000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.497	211	232	0.908	0.0000117	3022
Missense (PolyPhen)		37	45.157	0.81937		603
Synonymous	0.677	82	90.2	0.909	0.00000479	841
Loss of Function	1.22	22	29.1	0.756	0.00000173	334

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00078	0.00078	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00044	0.00044	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.00056	0.00056	rare
South Asian	0.00049	0.00049	rare
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in mitotic exit and cytokinesis (PubMed:16198290, PubMed:17853893). Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis (PubMed:17853893). Not required for microtubule nucleation (PubMed:16198290). Plays a role in the development of the brain and kidney (PubMed:28264986). {ECO:0000269|PubMed:16198290, ECO:0000269|PubMed:17853893, ECO:0000269|PubMed:28264986}.;
Disease: DISEASE: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH) [MIM:236500]: An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid- filled cyst. MARCH results in death in utero or in the perinatal period. {ECO:0000269|PubMed:28264986, ECO:0000269|PubMed:28295209}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec: 0.0922

Intolerance Scores

LoFtool: 0.872
RVIS EVS: 1.62
RVIS percentile EVS: 96

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.798

Gene Damage Prediction

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