PCID2: PCI Domain Containing 2
A component of the TREX-2 complex involved in mRNA export and genome stability
Gene Information Card
| Symbol | PCID2 |
|---|---|
| Full Name | PCI domain containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 55795 ncbi.nlm.nih.gov/gene/55795 |
| Ensembl ID | ENSG00000134871 |
| UniProt ID | Q5JVF3 |
| OMIM ID | 618703 |
| HGNC ID | 25653 |
| Aliases | DCPS, DSS1, SEM1 |
Description
PCID2 (PCI domain containing 2) encodes a component of the TREX-2 complex, which is involved in mRNA export from the nucleus to the cytoplasm. The protein also plays a role in maintaining genome stability and DNA repair. Mutations in PCID2 have been associated with developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental delay with intellectual disability | Loss-of-function mutations impair mRNA export, affecting neuronal development | ClinVar |
| Microcephaly | Disruption of TREX-2 complex leads to defective neurogenesis | OMIM |
| Cancer (various) | Altered PCID2 expression affects genome stability and cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| HepG2 | 5.9 | Liver cancer cells |
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.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.500_501del (p.Glu167fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported PCID2 mutations are loss-of-function, leading to reduced mRNA export and genomic instability.
Gain of Function (GOF)
No gain-of-function mutations reported in PCID2.
Dominant Negative (DN)
No dominant-negative mutations reported in PCID2.
View complete mutation data：
Gene Ontology (GO)
| • mRNA export from nucleus | • protein binding |
| • nucleus | • cytoplasm |
| • TREX-2 complex |
Pathways
• mRNA export (TREX-2 complex)
• DNA repair
Protein Summary
PCID2 is a 45 kDa protein containing a PCI domain, which mediates interactions within the TREX-2 complex. It is essential for proper mRNA export and contributes to genome stability. The protein is ubiquitously expressed with highest levels in testis.
Related Services
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