CEP112: Centrosomal Protein 112
A centrosomal protein involved in ciliogenesis and spermatogenesis, with potential roles in male infertility and cancer.
Gene Information Card
| Symbol | CEP112 |
|---|---|
| Full Name | Centrosomal Protein 112 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 201134 ncbi.nlm.nih.gov/gene/201134 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8N4L2 |
| OMIM ID | 618154 |
| HGNC ID | 28309 |
| Aliases | C17orf63, FLJ25333, dJ1181N3.1 |
Description
CEP112 encodes a centrosomal protein that localizes to the centrosome and is involved in ciliogenesis and spermatogenesis. It is essential for proper sperm flagellum formation and male fertility. The protein contains a coiled-coil domain and interacts with other centrosomal components. Mutations in CEP112 have been associated with spermatogenic failure and asthenozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 38 | Defective sperm flagellum assembly due to CEP112 loss-of-function mutations | OMIM #618154; PMID: 31564436 |
| Asthenozoospermia | Impaired sperm motility from disrupted centrosomal function | ClinVar; PMID: 31564436 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 4.2 | Low |
| Brain (cerebellum) | 3.1 | Low |
| Heart | 2.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Embryonic kidney; moderate expression |
| HeLa | 3.2 | Cervical cancer; low expression |
| K562 | 2.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52*) | Nonsense | Rare | Loss of function; truncation |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Likely damaging; reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CEP112 lead to truncated protein, loss of centrosomal localization, and defective ciliogenesis/spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for CEP112.
Dominant Negative (DN)
No dominant-negative mutations reported for CEP112.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • protein binding (GO:0005515) |
| • cilium assembly (GO:0060271) | • spermatid development (GO:0007286) |
| • axoneme assembly (GO:0035082) |
Pathways
• Ciliogenesis
• Spermatogenesis
Protein Summary
CEP112 is a 112 kDa centrosomal protein containing coiled-coil domains. It localizes to the centrosome and is required for cilia formation and sperm flagellum assembly. The protein interacts with other centrosomal components to regulate microtubule organization. Loss of CEP112 function results in impaired ciliogenesis and male infertility due to defective sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP112 Knockout HEK293 Cell Line | EDJ-KQ4719 | Human | 201134 | Details Get a Quote |
| CEP112 Knockout A-549 Cell Line | EDJ-KQ27446 | Human | 201134 | Details Get a Quote |
| CEP112 Knockout HCT 116 Cell Line | EDJ-KQ27447 | Human | 201134 | Details Get a Quote |
| CEP112 Knockout HeLa Cell Line | EDJ-KQ27448 | Human | 201134 | Details Get a Quote |
