PCID2
gene geneOn this page
Also known as FLJ11305
Summary
PCID2 (PCI domain containing 2, HGNC:25653) is a protein-coding gene on chromosome 13q34, encoding PCI domain-containing protein 2 (Q5JVF3). Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation. It is a common-essential gene (DepMap: required in 96.5% of cancer cell lines).
This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55795 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 113 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 96.5% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001127202
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25653 |
| Approved symbol | PCID2 |
| Name | PCI domain containing 2 |
| Location | 13q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11305 |
| Ensembl gene | ENSG00000126226 |
| Ensembl biotype | protein_coding |
| OMIM | 613713 |
| Entrez | 55795 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 12 protein_coding, 9 protein_coding_CDS_not_defined
ENST00000246505, ENST00000337344, ENST00000375457, ENST00000375459, ENST00000375477, ENST00000375479, ENST00000462653, ENST00000462853, ENST00000463102, ENST00000473462, ENST00000475433, ENST00000480971, ENST00000484641, ENST00000491548, ENST00000493650, ENST00000622406, ENST00000925339, ENST00000952596, ENST00000952597, ENST00000952598, ENST00000952599
RefSeq mRNA: 14 — MANE Select: NM_001127202
NM_001127202, NM_001127203, NM_001258213, NM_001320655, NM_001320656, NM_001320657, NM_001320659, NM_001320660, NM_001353091, NM_001353092, NM_001353093, NM_001353094, NM_001353095, NM_018386
CCDS: CCDS58301, CCDS58302, CCDS9532
Canonical transcript exons
ENST00000337344 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001419101 | 113177536 | 113178287 |
| ENSE00001898558 | 113208599 | 113208669 |
| ENSE00003468541 | 113200427 | 113200516 |
| ENSE00003497525 | 113197178 | 113197243 |
| ENSE00003499188 | 113185485 | 113185560 |
| ENSE00003526446 | 113190872 | 113190975 |
| ENSE00003541041 | 113198191 | 113198264 |
| ENSE00003554023 | 113196181 | 113196222 |
| ENSE00003557919 | 113195071 | 113195125 |
| ENSE00003571281 | 113180158 | 113180231 |
| ENSE00003614870 | 113178966 | 113179089 |
| ENSE00003615920 | 113184346 | 113184487 |
| ENSE00003644620 | 113179917 | 113180042 |
| ENSE00003675012 | 113181130 | 113181230 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 98.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.5998 / max 305.8048, expressed in 1808 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138335 | 26.7353 | 1805 |
| 138328 | 1.1065 | 413 |
| 138330 | 0.4685 | 254 |
| 138329 | 0.1288 | 56 |
| 138325 | 0.0767 | 26 |
| 138334 | 0.0610 | 4 |
| 138331 | 0.0229 | 13 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 98.06 | gold quality |
| secondary oocyte | CL:0000655 | 96.26 | gold quality |
| left ovary | UBERON:0002119 | 95.42 | gold quality |
| right ovary | UBERON:0002118 | 95.24 | gold quality |
| left testis | UBERON:0004533 | 94.68 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.53 | gold quality |
| right testis | UBERON:0004534 | 94.49 | gold quality |
| endocervix | UBERON:0000458 | 94.42 | gold quality |
| body of uterus | UBERON:0009853 | 94.16 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.85 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.76 | gold quality |
| left uterine tube | UBERON:0001303 | 93.73 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.73 | gold quality |
| ectocervix | UBERON:0012249 | 93.71 | gold quality |
| granulocyte | CL:0000094 | 93.65 | gold quality |
| right coronary artery | UBERON:0001625 | 93.63 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.63 | gold quality |
| right uterine tube | UBERON:0001302 | 93.61 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.58 | gold quality |
| testis | UBERON:0000473 | 93.53 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.53 | gold quality |
| ascending aorta | UBERON:0001496 | 93.50 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.48 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.47 | gold quality |
| body of pancreas | UBERON:0001150 | 93.40 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.30 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.29 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.26 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.24 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.21 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.86 |
| E-HCAD-29 | no | 625.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting PCID2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-223-5P | 99.24 | 68.82 | 1206 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-4662B | 98.33 | 66.37 | 1163 |
| HSA-MIR-4511 | 98.32 | 67.97 | 1500 |
| HSA-MIR-4647 | 98.30 | 66.41 | 1139 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-3665 | 97.73 | 65.08 | 975 |
| HSA-MIR-6791-3P | 97.45 | 64.31 | 1123 |
| HSA-MIR-6829-3P | 97.45 | 64.31 | 1137 |
| HSA-MIR-8069 | 97.05 | 66.79 | 718 |
| HSA-MIR-4689 | 96.97 | 65.79 | 1209 |
| HSA-MIR-454-5P | 96.51 | 68.35 | 263 |
| HSA-MIR-10A-3P | 93.57 | 64.43 | 451 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.5% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 8)
- validated occurrence of an unusual TG 3’ splice site in intron 2 (PMID:17672918)
- Pcid2 is present in the CBP/p300-EID1 complex to control the switch balance of mouse and human embryonic stem cells through modulation of EID1 degradation. (PMID:24167073)
- First discovery of specific novel functions for PCID2 other than mRNA export and components of the TREX-2 complex serve alternative shared roles in the regulation of nuclear transport and cell cycle progression. (PMID:24291146)
- Data show that PCI domain-containing protein 2 (Pcid2) controls lymphoid lineage commitment through the regulation of Snf2-related CREBBP activator protein (SRCAP) remodelling activity. (PMID:29138493)
- Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. (PMID:32202298)
- Increased chemosensitivity via BRCA2-independent DNA damage in DSS1- and PCID2-depleted breast carcinomas. (PMID:34031538)
- A novel amplification gene PCI domain containing 2 (PCID2) promotes colorectal cancer through directly degrading a tumor suppressor promyelocytic leukemia (PML). (PMID:34625711)
- [PCID2 is highly expressed in gastric cancer and affects the prognosis by regulating cancer cell cycle and proliferation]. (PMID:38501418)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pcid2 | ENSDARG00000013802 |
| mus_musculus | Pcid2 | ENSMUSG00000038542 |
| rattus_norvegicus | Pcid2 | ENSRNOG00000025222 |
| drosophila_melanogaster | PCID2 | FBGN0036184 |
| caenorhabditis_elegans | WBGENE00016171 |
Protein
Protein identifiers
PCI domain-containing protein 2 — Q5JVF3 (reviewed: Q5JVF3)
Alternative names: CSN12-like protein
All UniProt accessions (1): Q5JVF3
UniProt curated annotations — full annotation on UniProt →
Function. Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation. As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores. Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and transcription-associated genomic instability. Blocks the activity of the SRCAP chromatin remodeling complex by interacting with SRCAP complex member ZNHIT1 and inhibiting its interaction with the complex. This prevents the deposition of histone variant H2AZ1/H2A.Z at the nucleosomes of key lymphoid fate regulator genes which suppresses their expression and restricts lymphoid lineage commitment.
Subunit / interactions. Component of the nuclear pore complex (NPC)-associated TREX-2 complex (transcription and export complex 2), composed of at least GANP, 2 copies of ENY2, PCID2, SEM1/DSS1, and either centrin CETN2 or centrin CETN3. The TREX-2 complex also associates with ALYREF/ALY and with the nucleoporin NUP153. Interacts with BRCA2. Interacts with SRCAP chromatin remodeling complex component ZNHIT1; the interaction results in inhibition of SRCAP complex activity, preventing the deposition of histone variant H2AZ1/H2A.Z to lymphoid fate regulator genes and restricting lymphoid lineage commitment.
Subcellular location. Cytoplasm. Nucleus. Nuclear pore complex.
Similarity. Belongs to the CSN12 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5JVF3-1 | 1 | yes |
| Q5JVF3-2 | 2 | |
| Q5JVF3-3 | 3 | |
| Q5JVF3-4 | 4 |
RefSeq proteins (14): NP_001120674, NP_001120675, NP_001245142, NP_001307584, NP_001307585, NP_001307586, NP_001307588, NP_001307589, NP_001340020, NP_001340021, NP_001340022, NP_001340023, NP_001340024, NP_060856 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000717 | PCI_dom | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR045114 | Csn12-like | Family |
Pfam: PF01399
UniProt features (32 total): helix 13, sequence conflict 7, strand 3, splice variant 3, modified residue 2, initiator methionine 1, chain 1, domain 1, turn 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3T5X | X-RAY DIFFRACTION | 2.12 |
| 9DLP | ELECTRON MICROSCOPY | 2.79 |
| 9T6L | ELECTRON MICROSCOPY | 2.9 |
| 9DLV | ELECTRON MICROSCOPY | 2.97 |
| 9T6N | ELECTRON MICROSCOPY | 3 |
| 9DLR | ELECTRON MICROSCOPY | 3.08 |
| 9UPC | ELECTRON MICROSCOPY | 3.14 |
| 9UPB | ELECTRON MICROSCOPY | 3.41 |
| 8R7J | ELECTRON MICROSCOPY | 3.5 |
| 8R7K | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5JVF3-F1 | 95.64 | 0.93 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 2, 45
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 213 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_B_CELL_ACTIVATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_NUCLEAR_TRANSPORT, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_NEGATIVE_REGULATION_OF_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, chr13q34, GOBP_REGULATION_OF_B_CELL_DIFFERENTIATION
GO Biological Process (9): post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000973), transcription elongation by RNA polymerase II (GO:0006368), protein transport (GO:0015031), poly(A)+ mRNA export from nucleus (GO:0016973), positive regulation of B cell differentiation (GO:0045579), negative regulation of gene expression, epigenetic (GO:0045814), spleen development (GO:0048536), negative regulation of lymphoid progenitor cell differentiation (GO:1905457), mRNA transport (GO:0051028)
GO Molecular Function (3): double-stranded DNA binding (GO:0003690), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), nuclear pore nuclear basket (GO:0044615), transcription export complex 2 (GO:0070390), nuclear pore (GO:0005643), protein-containing complex (GO:0032991)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear protein-containing complex | 3 |
| transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery | 1 |
| DNA-templated transcription elongation | 1 |
| transcription by RNA polymerase II | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| mRNA export from nucleus | 1 |
| B cell differentiation | 1 |
| regulation of B cell differentiation | 1 |
| positive regulation of lymphocyte differentiation | 1 |
| positive regulation of B cell activation | 1 |
| negative regulation of gene expression | 1 |
| epigenetic regulation of gene expression | 1 |
| hematopoietic or lymphoid organ development | 1 |
| lymphoid progenitor cell differentiation | 1 |
| negative regulation of hematopoietic progenitor cell differentiation | 1 |
| regulation of lymphoid progenitor cell differentiation | 1 |
| RNA transport | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| nuclear pore | 1 |
| nuclear envelope | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1606 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCID2 | MCM3AP | O60318 | 994 |
| PCID2 | ENY2 | Q9NPA8 | 991 |
| PCID2 | CETN2 | P41208 | 986 |
| PCID2 | SEM1 | Q6ZVN7 | 969 |
| PCID2 | CETN3 | O15182 | 864 |
| PCID2 | BRCA2 | P51587 | 731 |
| PCID2 | CUL4A | Q13619 | 725 |
| PCID2 | MAD1L1 | Q9Y6D9 | 670 |
| PCID2 | MAD2L1 | Q13257 | 669 |
| PCID2 | BUB1B | O60566 | 655 |
| PCID2 | RAE1 | P78406 | 649 |
| PCID2 | CCNB1 | P14635 | 588 |
| PCID2 | DDB2 | Q92466 | 579 |
| PCID2 | ZNHIT1 | O43257 | 570 |
| PCID2 | CDK1 | P06493 | 543 |
IntAct
67 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| SEM1 | PCID2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CETN1 | SFI1 | psi-mi:“MI:0914”(association) | 0.640 |
| IKZF3 | PCID2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCID2 | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCID2 | LENG8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| NS1 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| PCID2 | espY1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NS1 | psi-mi:“MI:0914”(association) | 0.350 | |
| NS1 | SAC3D1 | psi-mi:“MI:0914”(association) | 0.350 |
| NS1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | RSL1D1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (115): PCID2 (Two-hybrid), PCID2 (Affinity Capture-RNA), PCID2 (Affinity Capture-RNA), PCID2 (Affinity Capture-RNA), PCID2 (Two-hybrid), CAPZB (Co-fractionation), DDX3X (Co-fractionation), IMPDH2 (Co-fractionation), LSM1 (Co-fractionation), PCID2 (Co-fractionation), PCID2 (Co-fractionation), PSMD6 (Co-fractionation), SNX2 (Co-fractionation), SNX6 (Co-fractionation), UBE4B (Co-fractionation)
ESM2 similar proteins: A1A5Y5, A1Z6M6, A2ACP1, A7E727, A7SUU7, A8NY27, A8X419, D3ZC96, O13693, O42897, O61820, O94699, P34560, P40515, Q03560, Q09266, Q0VGK2, Q1LXE6, Q20255, Q28D40, Q28DB0, Q2TBN6, Q5AFF7, Q5FWP8, Q5JVF3, Q5SRH9, Q5U3P0, Q5VTQ0, Q5XHH9, Q60YJ7, Q61LA1, Q6BLG8, Q6CU37, Q6FIQ1, Q6INC1, Q7RXQ1, Q7SI58, Q8BFV2, Q8BYY4, Q8C0S4
Diamond homologs: O13873, P0CR48, P0CR49, Q2TBN6, Q4IMN9, Q4P8T5, Q4WJX0, Q5FWP8, Q5JVF3, Q5U3P0, Q6C1L4, Q6CPB1, Q7SD63, Q8BFV2, Q9VTL1, Q54PX7, Q60YJ7, Q8GWE6, Q95QU0, Q9Y820, Q6BGR7, Q75BU2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Regulation of expression of SLITs and ROBOs | 5 | 8.4× | 1e-02 |
| Metabolism of RNA | 8 | 8.1× | 2e-03 |
| mRNA Splicing - Major Pathway | 6 | 8.0× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 11 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2740 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:113178960:A:AC | donor_gain | 1.0000 |
| 13:113178961:C:CC | donor_gain | 1.0000 |
| 13:113178961:CA:C | donor_gain | 1.0000 |
| 13:113178961:CACA:C | donor_gain | 1.0000 |
| 13:113178991:CA:C | donor_gain | 1.0000 |
| 13:113178997:A:C | donor_gain | 1.0000 |
| 13:113179000:T:TA | donor_gain | 1.0000 |
| 13:113179015:T:TA | donor_gain | 1.0000 |
| 13:113179087:TAC:T | acceptor_gain | 1.0000 |
| 13:113179087:TACC:T | acceptor_loss | 1.0000 |
| 13:113179088:ACC:A | acceptor_loss | 1.0000 |
| 13:113179089:CCTG:C | acceptor_loss | 1.0000 |
| 13:113179090:C:CC | acceptor_gain | 1.0000 |
| 13:113179091:T:A | acceptor_loss | 1.0000 |
| 13:113179911:GCTTA:G | donor_loss | 1.0000 |
| 13:113179912:CTTAC:C | donor_loss | 1.0000 |
| 13:113179914:TA:T | donor_loss | 1.0000 |
| 13:113179915:A:AC | donor_gain | 1.0000 |
| 13:113179916:C:CT | donor_gain | 1.0000 |
| 13:113179916:CA:C | donor_gain | 1.0000 |
| 13:113179916:CACT:C | donor_gain | 1.0000 |
| 13:113179916:CACTT:C | donor_gain | 1.0000 |
| 13:113179921:T:A | donor_gain | 1.0000 |
| 13:113179933:T:TA | donor_gain | 1.0000 |
| 13:113180039:CTCG:C | acceptor_gain | 1.0000 |
| 13:113180040:TCG:T | acceptor_gain | 1.0000 |
| 13:113180041:CG:C | acceptor_gain | 1.0000 |
| 13:113180041:CGC:C | acceptor_gain | 1.0000 |
| 13:113180043:C:CA | acceptor_loss | 1.0000 |
| 13:113180043:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000010267 (13:113168752 C>A,T), RS1000055134 (13:113173047 C>T), RS1000108535 (13:113172870 C>A), RS1000120386 (13:113178083 C>T), RS1000141513 (13:113207608 A>G), RS1000184070 (13:113174110 C>T), RS1000215911 (13:113195473 T>G), RS1000227104 (13:113189896 G>A), RS1000240800 (13:113178869 C>G,T), RS1000316205 (13:113195075 T>C), RS1000352417 (13:113178664 T>C), RS1000419789 (13:113184946 G>A), RS1000489504 (13:113207950 G>A,C,T), RS1000504881 (13:113176928 C>G), RS1000574148 (13:113188131 G>A)
Disease associations
OMIM: gene MIM:613713 | disease phenotypes: MIM:614024
GenCC curated gene-disease
Mondo (1): protein Z deficiency (MONDO:0013532)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004602_174 | Mean corpuscular volume | 2.000000e-10 |
| GCST004630_196 | Mean corpuscular hemoglobin | 3.000000e-14 |
| GCST008103_78 | Bipolar disorder | 1.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725175 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 5 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.05 | Kd | 90 | nM | MOLIBRESIB |
| 6.58 | IC50 | 260 | nM | MOLIBRESIB |
| 5.72 | Kd | 1923 | nM | CHEMBL3752910 |
| 5.72 | ED50 | 1923 | nM | CHEMBL3752910 |
PubChem BioAssay actives
3 with measured affinity, of 11 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179187: Binding affinity against PCID2 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0900 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148945: Binding affinity to human PCID2 incubated for 45 mins by Kinobead based pull down assay | kd | 1.9226 | uM |
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | increases abundance, affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cannabidiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Silicon Dioxide | decreases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651987 | Binding | Binding affinity to human PCID2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): protein Z deficiency