PRIM2: DNA Primase Subunit 2
Essential component of the DNA primase complex involved in DNA replication initiation
Gene Information Card
| Symbol | PRIM2 |
|---|---|
| Full Name | DNA primase subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p11.2 |
| NCBI Gene ID | 5558 ncbi.nlm.nih.gov/gene/5558 |
| Ensembl ID | ENSG00000146143 |
| UniProt ID | P49643 |
| OMIM ID | 176636 |
| HGNC ID | 9349 |
| Aliases | p58, primase p58 subunit |
Description
PRIM2 encodes the 58 kDa subunit of DNA primase, which is part of the DNA polymerase alpha-primase complex. This complex synthesizes RNA primers required for initiation of DNA replication at origins and on the lagging strand. PRIM2 provides the catalytic primase activity together with PRIM1, and is essential for cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | PRIM2 overexpression may promote replication stress tolerance | PMID: 25691885 |
| Breast cancer | PRIM2 amplification observed in some subtypes | PMID: 29174464 |
| Ovarian cancer | PRIM2 upregulation linked to poor prognosis | PMID: 30323853 |
| Primrose syndrome | Missense mutations in PRIM2 cause a neurodevelopmental disorder | PMID: 32621799 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 12.8 | High |
| Lymph node | 10.5 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| K562 | 14.2 | Leukemia cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| MCF7 | 7.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.133C>T (p.Arg45Cys) | Missense | Rare | Associated with Primrose syndrome |
| c.1552G>A (p.Glu518Lys) | Missense | Rare | Reported in developmental delay |
| c.1891C>T (p.Arg631Trp) | Missense | Rare | Found in cancer samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PRIM2 impair primase activity and DNA replication, leading to cell cycle arrest or developmental defects.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression in cancers may confer replicative advantage.
Dominant Negative (DN)
Dominant-negative effects have been proposed for certain missense mutations that disrupt the primase complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation (GO:0006270) | • DNA primase activity (GO:0003896) |
| • 4 sulfur cluster binding (GO:0051539) | • nucleus (GO:0005634) |
| • DNA-directed DNA polymerase activity (GO:0003887) |
Pathways
• DNA replication (KEGG hsa03030)
• Cell cycle (KEGG hsa04110)
• Base excision repair (KEGG hsa03410)
Protein Summary
PRIM2 encodes the 58 kDa regulatory subunit of DNA primase. It forms a heterodimer with PRIM1 (p49) to catalyze RNA primer synthesis during DNA replication. The protein contains a [4Fe-4S] cluster essential for primase activity and interacts with DNA polymerase alpha. PRIM2 is highly expressed in proliferating tissues and is upregulated in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRIM2 Knockout HEK293 Cell Line | EDJ-KQ5531 | Human | 5558 | Details Get a Quote |
| PRIM2 Knockout HCT 116 Cell Line | EDJ-KQ27529 | Human | 5558 | Details Get a Quote |
| PRIM2 Knockout A-549 Cell Line | EDJ-KQ28778 | Human | 5558 | Details Get a Quote |
| PRIM2 Knockout HeLa Cell Line | EDJ-KQ28780 | Human | 5558 | Details Get a Quote |
