PRRC2C
gene geneOn this page
Also known as KIAA1096XTP2
Summary
PRRC2C (proline rich coiled-coil 2C, HGNC:24903) is a protein-coding gene on chromosome 1q24.3, encoding Protein PRRC2C (Q9Y520). Required for efficient formation of stress granules.
Enables RNA binding activity. Involved in stress granule assembly. Located in cytosol.
Source: NCBI Gene 23215 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 390 total
- Druggable target: yes
- MANE Select transcript:
NM_001387844
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24903 |
| Approved symbol | PRRC2C |
| Name | proline rich coiled-coil 2C |
| Location | 1q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1096, XTP2 |
| Ensembl gene | ENSG00000117523 |
| Ensembl biotype | protein_coding |
| OMIM | 617373 |
| Entrez | 23215 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 7 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000338920, ENST00000367742, ENST00000426496, ENST00000463586, ENST00000467601, ENST00000470689, ENST00000476522, ENST00000480806, ENST00000492811, ENST00000495585, ENST00000498596, ENST00000644916, ENST00000647382
RefSeq mRNA: 2 — MANE Select: NM_001387844
NM_001387844, NM_015172
CCDS: CCDS1296, CCDS91104
Canonical transcript exons
ENST00000647382 — 35 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000789770 | 171561018 | 171561103 |
| ENSE00000789771 | 171566233 | 171566421 |
| ENSE00000789772 | 171566592 | 171566843 |
| ENSE00000789773 | 171568247 | 171568339 |
| ENSE00000789774 | 171571320 | 171571421 |
| ENSE00000789775 | 171574927 | 171575128 |
| ENSE00000789776 | 171577434 | 171577637 |
| ENSE00000789777 | 171579354 | 171579466 |
| ENSE00000789778 | 171579828 | 171579964 |
| ENSE00000958958 | 171584419 | 171584526 |
| ENSE00001151012 | 171550086 | 171550240 |
| ENSE00001151016 | 171545479 | 171545687 |
| ENSE00001226837 | 171557240 | 171558143 |
| ENSE00001372716 | 171591587 | 171593511 |
| ENSE00001602651 | 171539971 | 171542229 |
| ENSE00001608944 | 171536029 | 171536278 |
| ENSE00001682082 | 171532343 | 171532961 |
| ENSE00001747804 | 171535428 | 171535597 |
| ENSE00001794288 | 171537263 | 171537473 |
| ENSE00002342555 | 171587003 | 171587221 |
| ENSE00002397175 | 171583956 | 171584187 |
| ENSE00003460632 | 171523435 | 171523522 |
| ENSE00003484235 | 171527791 | 171527844 |
| ENSE00003578430 | 171515734 | 171515859 |
| ENSE00003588737 | 171587648 | 171587751 |
| ENSE00003600536 | 171524821 | 171524965 |
| ENSE00003606342 | 171512995 | 171513172 |
| ENSE00003628667 | 171588379 | 171588505 |
| ENSE00003645844 | 171522177 | 171522259 |
| ENSE00003653650 | 171514536 | 171514645 |
| ENSE00003660063 | 171517591 | 171517814 |
| ENSE00003664356 | 171512032 | 171512200 |
| ENSE00003683382 | 171523221 | 171523354 |
| ENSE00003823144 | 171589369 | 171589605 |
| ENSE00003922021 | 171485530 | 171485735 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 152.3446 / max 7489.8331, expressed in 1828 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6609 | 107.2356 | 1826 |
| 6608 | 14.9853 | 1789 |
| 6625 | 7.4331 | 1429 |
| 6626 | 4.0487 | 1090 |
| 6619 | 3.7069 | 1158 |
| 6639 | 3.1797 | 1224 |
| 6640 | 2.4702 | 1145 |
| 6616 | 2.0705 | 1006 |
| 6617 | 1.3971 | 767 |
| 6618 | 1.3951 | 701 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelium of nasopharynx | UBERON:0001951 | 99.61 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.50 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.46 | gold quality |
| tibia | UBERON:0000979 | 99.35 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.35 | gold quality |
| visceral pleura | UBERON:0002401 | 99.34 | gold quality |
| parietal pleura | UBERON:0002400 | 99.32 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.24 | gold quality |
| pleura | UBERON:0000977 | 99.23 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.21 | gold quality |
| squamous epithelium | UBERON:0006914 | 99.15 | gold quality |
| cartilage tissue | UBERON:0002418 | 99.14 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.08 | gold quality |
| gingiva | UBERON:0001828 | 98.99 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.94 | gold quality |
| sural nerve | UBERON:0015488 | 98.93 | gold quality |
| hair follicle | UBERON:0002073 | 98.84 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.74 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.71 | gold quality |
| pylorus | UBERON:0001166 | 98.70 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 98.70 | gold quality |
| skin of hip | UBERON:0001554 | 98.69 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.65 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.55 | gold quality |
| caput epididymis | UBERON:0004358 | 98.50 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.49 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.43 | gold quality |
| male germ cell | CL:0000015 | 98.42 | gold quality |
| sperm | CL:0000019 | 98.42 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.42 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 5.38 |
| E-GEOD-130148 | yes | 4.95 |
| E-MTAB-4850 | no | 1114.90 |
| E-CURD-135 | no | 662.24 |
| E-HCAD-4 | no | 18.92 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
169 targeting PRRC2C, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
Literature-anchored findings (GeneRIF, showing 2)
- The KIAA1096 gene is located at 1q23-24 with no overexpression or amplification in normal urothelium, but was significantly upregulated in 30% of tumors. (PMID:12443540)
- 10 genes were down-regulated following treatment of the T-ALL cells with 0.15 and 1.5 microg/mL of metal ores at 72 h (PMID:15747776)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | prrc2c | ENSDARG00000057583 |
| mus_musculus | Prrc2c | ENSMUSG00000040225 |
| rattus_norvegicus | Prrc2c | ENSRNOG00000068743 |
| caenorhabditis_elegans | WBGENE00018710 |
Paralogs (2): PRRC2A (ENSG00000204469), PRRC2B (ENSG00000288701)
Protein
Protein identifiers
Protein PRRC2C — Q9Y520 (reviewed: Q9Y520)
Alternative names: BAT2 domain-containing protein 1, HBV X-transactivated gene 2 protein, HBV XAg-transactivated protein 2, HLA-B-associated transcript 2-like 2, Proline-rich and coiled-coil-containing protein 2C
All UniProt accessions (6): A0A2R8Y424, A0A2R8Y7F4, A0A2R8YET2, E7EPN9, Q9Y520, H7C5N8
UniProt curated annotations — full annotation on UniProt →
Function. Required for efficient formation of stress granules.
Subcellular location. Cytoplasm. Stress granule.
Tissue specificity. Overexpressed in bladder cancer.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y520-1 | 1 | yes |
| Q9Y520-2 | 2 | |
| Q9Y520-3 | 3 | |
| Q9Y520-4 | 4 | |
| Q9Y520-5 | 5 | |
| Q9Y520-6 | 6 | |
| Q9Y520-7 | 7 |
RefSeq proteins (2): NP_001374773, NP_055987 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009738 | BAT2_N | Domain |
| IPR033184 | PRRC2 | Family |
Pfam: PF07001
UniProt features (127 total): compositionally biased region 46, modified residue 41, region of interest 13, sequence variant 11, splice variant 7, sequence conflict 5, coiled-coil region 2, chain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q9Y520 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
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 (42): 2814, 2823, 2823, 1133, 27, 187, 191, 242, 242, 255, 266, 279, 281, 335, 392, 395, 500, 779, 785, 801 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 204 (showing top):
E2F_Q4, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, MORF_SMC1L1, MORF_HDAC1, MORF_UBE2N, YY1_Q6, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, MORF_SKP1A, ACCAATC_MIR509, ONKEN_UVEAL_MELANOMA_UP, E2F_Q3, DOANE_RESPONSE_TO_ANDROGEN_DN, YY1_02
GO Biological Process (2): hematopoietic progenitor cell differentiation (GO:0002244), stress granule assembly (GO:0034063)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494), membrane (GO:0016020), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| hemopoiesis | 1 |
| cell differentiation | 1 |
| membraneless organelle assembly | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1485 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRRC2C | UBAP2L | Q14157 | 789 |
| PRRC2C | CSDE1 | O75534 | 625 |
| PRRC2C | PRRC2A | P48634 | 562 |
| PRRC2C | G3BP1 | Q13283 | 544 |
| PRRC2C | ZC3H11A | O75152 | 543 |
| PRRC2C | G3BP2 | Q9UN86 | 535 |
| PRRC2C | RPRD2 | Q5VT52 | 513 |
| PRRC2C | CIMIP7 | H3BNL1 | 507 |
| PRRC2C | PLPP6 | Q8IY26 | 507 |
| PRRC2C | CAPRIN1 | Q14444 | 501 |
| PRRC2C | SMIM9 | A6NGZ8 | 468 |
| PRRC2C | PIGC | Q92535 | 457 |
| PRRC2C | BPTF | Q12830 | 446 |
| PRRC2C | CLINT1 | Q14677 | 446 |
| PRRC2C | METTL13 | Q8N6R0 | 436 |
IntAct
161 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAPN1 | CAPNS1 | psi-mi:“MI:0914”(association) | 0.840 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| QPRT | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| FMR1 | ACOT7 | psi-mi:“MI:0914”(association) | 0.500 |
| GSK3B | SEC16A | psi-mi:“MI:0914”(association) | 0.420 |
| PRRC2C | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRRC2C | H3-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PPFIBP1 | PRRC2C | psi-mi:“MI:0915”(physical association) | 0.400 |
| BQRF1 | PRRC2C | psi-mi:“MI:0915”(physical association) | 0.370 |
| VWA8 | psi-mi:“MI:0914”(association) | 0.350 | |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAR1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CD74 | psi-mi:“MI:0914”(association) | 0.350 | |
| DDX60 | G6PD | psi-mi:“MI:0914”(association) | 0.350 |
| MAB21L2 | PTBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (349): PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Proximity Label-MS), PRRC2C (Biochemical Activity), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), PRRC2C (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IZ84, A0A1L8H8C0, A0A1L8HFX9, A2RUV4, F1LP90, F5HSE3, O43310, O60237, O75167, O88453, P41110, P61406, Q12830, Q1LVF3, Q2HJG4, Q2PFD7, Q3TLH4, Q5RAK6, Q5ZMS6, Q66HC1, Q6A0A2, Q6NRP6, Q6NZL0, Q6P1U3, Q6PKG0, Q75N33, Q7TN02, Q7TPM1, Q7YZA2, Q7Z6E9, Q80TN7, Q80XI3, Q86UR5, Q86US8, Q8IVL0, Q8IVL1, Q8K0V4, Q8N4C8, Q90YL3, Q90YY5
Diamond homologs: P48634, Q3TLH4, Q5JSZ5, Q5TM26, Q6MG48, Q7TPM1, Q7TSC1, Q9SB63, Q9Y520
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 177 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 |
|---|---|---|---|
| SARS-CoV-1 modulates host translation machinery | 8 | 19.6× | 4e-07 |
| Eukaryotic Translation Initiation | 7 | 17.1× | 3e-06 |
| Cap-dependent Translation Initiation | 7 | 17.1× | 3e-06 |
| SARS-CoV-1-host interactions | 12 | 16.7× | 3e-09 |
| Eukaryotic Translation Elongation | 7 | 15.5× | 7e-06 |
| Formation of the ternary complex, and subsequently, the 43S complex | 9 | 15.4× | 4e-07 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 7 | 15.1× | 8e-06 |
| SARS-CoV-1 Infection | 12 | 13.6× | 1e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 5 | 24.4× | 3e-04 |
| stress granule assembly | 5 | 19.2× | 7e-04 |
| cytoplasmic translation | 13 | 15.3× | 3e-09 |
| negative regulation of translation | 11 | 13.7× | 2e-07 |
| mRNA transport | 7 | 11.7× | 4e-04 |
| ribosomal small subunit biogenesis | 8 | 11.6× | 1e-04 |
| translational initiation | 5 | 11.4× | 6e-03 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 10.9× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
390 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 307 |
| Likely benign | 21 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4467 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:171485734:CGGT:C | donor_loss | 1.0000 |
| 1:171485735:GGTAA:G | donor_loss | 1.0000 |
| 1:171485736:G:GG | donor_gain | 1.0000 |
| 1:171485736:GTA:G | donor_loss | 1.0000 |
| 1:171485737:T:A | donor_loss | 1.0000 |
| 1:171512018:A:AG | acceptor_gain | 1.0000 |
| 1:171512019:T:TA | acceptor_gain | 1.0000 |
| 1:171512025:T:G | acceptor_gain | 1.0000 |
| 1:171512993:A:AG | acceptor_gain | 1.0000 |
| 1:171512994:G:GG | acceptor_gain | 1.0000 |
| 1:171513168:GAAAA:G | donor_gain | 1.0000 |
| 1:171513173:G:GG | donor_gain | 1.0000 |
| 1:171514533:A:AG | acceptor_gain | 1.0000 |
| 1:171514534:A:AG | acceptor_gain | 1.0000 |
| 1:171514535:G:GG | acceptor_gain | 1.0000 |
| 1:171514535:GA:G | acceptor_gain | 1.0000 |
| 1:171514642:GATG:G | donor_gain | 1.0000 |
| 1:171515721:A:G | acceptor_gain | 1.0000 |
| 1:171515723:A:G | acceptor_gain | 1.0000 |
| 1:171515730:ATAG:A | acceptor_gain | 1.0000 |
| 1:171515732:A:AG | acceptor_gain | 1.0000 |
| 1:171515733:G:GG | acceptor_gain | 1.0000 |
| 1:171515856:CCAA:C | donor_gain | 1.0000 |
| 1:171515858:AA:A | donor_gain | 1.0000 |
| 1:171515858:AAGT:A | donor_loss | 1.0000 |
| 1:171515859:AGTAA:A | donor_loss | 1.0000 |
| 1:171515860:G:A | donor_loss | 1.0000 |
| 1:171515860:G:GG | donor_gain | 1.0000 |
| 1:171515861:T:G | donor_loss | 1.0000 |
| 1:171515866:G:GG | donor_gain | 1.0000 |
AlphaMissense
18733 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000004630 (1:171526986 T>G), RS1000068548 (1:171511663 T>A), RS1000077374 (1:171592935 G>A,T), RS1000130173 (1:171510652 A>G), RS1000179307 (1:171487783 G>A), RS1000184603 (1:171491597 G>A), RS1000209372 (1:171529886 G>A), RS1000251658 (1:171510991 T>C), RS1000272902 (1:171500555 C>T), RS1000297591 (1:171560192 A>T), RS1000306681 (1:171493794 ACT>A), RS1000335629 (1:171566197 A>G), RS1000337885 (1:171586524 G>C,T), RS1000374015 (1:171488318 A>G), RS1000389248 (1:171586247 A>AT)
Disease associations
OMIM: gene MIM:617373 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001915_1 | Alzheimer’s disease (cognitive decline) | 9.000000e-07 |
| GCST003075_1 | Cognitive decline rate in late mild cognitive impairment | 1.000000e-06 |
| GCST003075_100 | Cognitive decline rate in late mild cognitive impairment | 9.000000e-07 |
| GCST003075_101 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-10 |
| GCST003075_9 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-10 |
| GCST005984_3 | Glomerular filtration rate | 1.000000e-09 |
| GCST005985_3 | Creatinine levels | 1.000000e-08 |
| GCST006586_46 | Urinary albumin excretion | 1.000000e-08 |
| GCST007876_143 | Estimated glomerular filtration rate | 1.000000e-11 |
| GCST008058_17 | Estimated glomerular filtration rate | 2.000000e-09 |
| GCST008060_45 | Estimated glomerular filtration rate | 4.000000e-06 |
| GCST008790_4 | Urinary albumin-to-creatinine ratio | 2.000000e-08 |
| GCST008791_4 | Microalbuminuria | 6.000000e-06 |
| GCST008794_44 | Urinary albumin-to-creatinine ratio | 2.000000e-08 |
| GCST009640_7 | Urinary albumin-to-creatinine ratio | 2.000000e-08 |
| GCST010242_73 | HDL cholesterol levels | 5.000000e-09 |
| GCST010988_258 | Adult body size | 9.000000e-11 |
| GCST011494_88 | Daytime nap | 2.000000e-15 |
| GCST90002401_369 | Platelet distribution width | 6.000000e-20 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007710 | cognitive decline measurement |
| EFO:0004285 | albuminuria |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067337 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.61 | Kd | 246 | nM | CHEMBL3752910 |
| 6.61 | ED50 | 246 | nM | CHEMBL3752910 |
| 5.60 | Kd | 2515 | nM | CHEMBL5653589 |
| 5.60 | ED50 | 2515 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 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 |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149097: Binding affinity to human PRRC2C incubated for 45 mins by Kinobead based pull down assay | kd | 0.2460 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149097: Binding affinity to human PRRC2C incubated for 45 mins by Kinobead based pull down assay | kd | 2.5152 | uM |
CTD chemical–gene interactions
75 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Dronabinol | decreases expression, increases expression | 4 |
| bisphenol A | decreases expression, increases expression, affects cotreatment | 3 |
| Estradiol | decreases expression, increases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| trichostatin A | increases expression, affects cotreatment, decreases expression | 2 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 2 |
| Benzo(a)pyrene | decreases methylation, affects methylation | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| TAK-243 | affects sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| geldanamycin | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| kojic acid | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652139 | Binding | Binding affinity to human PRRC2C 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 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1QW | HyCyte Huh-7 KO-hPRRC2C | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.