CEP152

centrosomal protein 152

2 disorders 1 untyped 1 causative 15q21.1 gene with protein product

HGNC:29298 Monarch NCBI Gene 22995 ENSG00000103995 UniProt O94986 OMIM 613529

Aliases: KIAA0912, SCKL5, MCPH9.

Normal function · from ai-gene-review (O94986, commit 79fe13b38970) · AI-generated, not KB evidence

CEP152 is a large coiled-coil scaffold of the pericentriolar material that organizes centriole biogenesis. Together with CEP63 it forms a higher-order cylindrical assembly around the proximal region of a parent centriole. An N-terminal PLK4-binding region recruits and spatially organizes the master centriole-duplication kinase PLK4, while CEP152 also engages CPAP/CENPJ and other centrosomal factors to support procentriole initiation. In specialized multiciliated cells, CEP152 is recruited to DEUP1-positive deuterosomes and supports large-scale centriole amplification. During mitosis, APC/C-dependent turnover of CEP152 releases CEP57 from a CEP152-CEP63-CEP57 complex, enabling pericentrin recruitment and normal spindle assembly. Biallelic CEP152 variants cause primary microcephaly 9 and Seckel syndrome 5.

CEP152 is a protein-macromolecule adaptor at the pericentriolar material. It co-assembles with CEP63 into a cylindrical scaffold around the parent centriole, recruits and positions PLK4 through its N-terminal region, and engages CPAP/CENPJ to support procentriole initiation and centriole replication.

molecular function: protein-macromolecule adaptor activity · directly involved in: centriole replication · locations: pericentriolar material · in complex: procentriole replication complex

During mitosis, centrosomal CEP152 organizes a temporally regulated complex with CEP63 and CEP57 and recruits APC/C. APC/C-dependent CEP152 ubiquitylation releases CEP57 so that it can bind pericentrin, promoting microtubule nucleation and proper mitotic spindle assembly.

molecular function: protein-macromolecule adaptor activity · directly involved in: mitotic spindle assembly · locations: centrosome

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Seckel syndrome	causative	mechanism: Centrosome-dependent neural progenitor division impairment subtype: SCKL5 scoped to subtype: SCKL5
Autosomal Recessive Primary Microcephaly	untyped Biallelic Pathogenic Variant	mechanism: Centrosome, Spindle, and Kinetochore Dysfunction; Heterogeneous Biallelic MCPH Gene Dysfunction subtype: MCPH9 animal model: mouse (Mus musculus) dataset: geo:GSE325064

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
microcephaly with or without short stature MONDO:0100346	AR	Definitive 2022-06-28	no dismech entry

Mechanism modules · computed from kb/

neural_progenitor_centrosome_spindle_dysfunction via Autosomal Recessive Primary Microcephaly

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.