CSRNP3
geneOn this page
Also known as FLJ32093TAIP-2PPP1R73
Summary
CSRNP3 (cysteine and serine rich nuclear protein 3, HGNC:30729) is a protein-coding gene on chromosome 2q24.3, encoding Cysteine/serine-rich nuclear protein 3 (Q8WYN3). Binds to the consensus sequence 5’-AGAGTG-3’ and has transcriptional activator activity.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.
Source: NCBI Gene 80034 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 104 total — 11 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001172173
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30729 |
| Approved symbol | CSRNP3 |
| Name | cysteine and serine rich nuclear protein 3 |
| Location | 2q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32093, TAIP-2, PPP1R73 |
| Ensembl gene | ENSG00000178662 |
| Ensembl biotype | protein_coding |
| OMIM | 620405 |
| Entrez | 80034 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 11 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000314499, ENST00000342316, ENST00000409420, ENST00000409664, ENST00000421875, ENST00000464503, ENST00000651982, ENST00000871763, ENST00000871764, ENST00000871765, ENST00000871766, ENST00000871767
RefSeq mRNA: 2 — MANE Select: NM_001172173
NM_001172173, NM_024969
CCDS: CCDS2225
Canonical transcript exons
ENST00000651982 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001578368 | 165469698 | 165469740 |
| ENSE00001628995 | 165517873 | 165517961 |
| ENSE00001774342 | 165494759 | 165494928 |
| ENSE00003889947 | 165657761 | 165658020 |
| ENSE00003894547 | 165676312 | 165676608 |
| ENSE00003894986 | 165678701 | 165689407 |
| ENSE00003895475 | 165595043 | 165595213 |
Expression profiles
Bgee: expression breadth ubiquitous, 226 present calls, max score 98.84.
FANTOM5 (CAGE): breadth broad, TPM avg 8.3927 / max 1263.1181, expressed in 663 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23427 | 6.7776 | 649 |
| 23428 | 0.8433 | 166 |
| 23429 | 0.4759 | 115 |
| 23431 | 0.1738 | 109 |
| 23430 | 0.1221 | 61 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 98.84 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.42 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.09 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.08 | gold quality |
| parietal lobe | UBERON:0001872 | 97.05 | gold quality |
| endothelial cell | CL:0000115 | 96.18 | gold quality |
| cortical plate | UBERON:0005343 | 95.53 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.88 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.77 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.33 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.66 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.45 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.10 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 92.01 | gold quality |
| ventral tegmental area | UBERON:0002691 | 91.24 | gold quality |
| occipital lobe | UBERON:0002021 | 90.71 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.45 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 88.49 | gold quality |
| cerebellar vermis | UBERON:0004720 | 87.07 | gold quality |
| adult organism | UBERON:0007023 | 86.93 | gold quality |
| medulla oblongata | UBERON:0001896 | 85.79 | gold quality |
| seminal vesicle | UBERON:0000998 | 84.79 | gold quality |
| tibia | UBERON:0000979 | 84.75 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 84.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.23 | gold quality |
| corpus callosum | UBERON:0002336 | 84.07 | gold quality |
| temporal lobe | UBERON:0001871 | 83.42 | gold quality |
| cerebral cortex | UBERON:0000956 | 83.16 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 82.93 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.61 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.47 |
| E-MTAB-6058 | no | 592.40 |
| E-GEOD-99795 | no | 21.19 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
345 targeting CSRNP3, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | CSRNP3 | ENSDARG00000079741 |
| mus_musculus | Csrnp3 | ENSMUSG00000044647 |
| rattus_norvegicus | Csrnp3 | ENSRNOG00000005359 |
| drosophila_melanogaster | Axud1 | FBGN0261647 |
| caenorhabditis_elegans | C41D11.3 | WBGENE00016562 |
Paralogs (2): CSRNP2 (ENSG00000110925), CSRNP1 (ENSG00000144655)
Protein
Protein identifiers
Cysteine/serine-rich nuclear protein 3 — Q8WYN3 (reviewed: Q8WYN3)
Alternative names: Protein FAM130A2, TGF-beta-induced apoptosis protein 2
All UniProt accessions (4): B8ZZD9, E7EN18, Q8WYN3, J3KQ49
UniProt curated annotations — full annotation on UniProt →
Function. Binds to the consensus sequence 5’-AGAGTG-3’ and has transcriptional activator activity. Plays a role in apoptosis.
Subcellular location. Nucleus.
Similarity. Belongs to the AXUD1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WYN3-1 | 1 | yes |
| Q8WYN3-2 | 2 |
RefSeq proteins (2): NP_001165644, NP_079245 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR023260 | Cys/Ser-rich_nuc_prot | Family |
| IPR031972 | CSRNP_N | Domain |
Pfam: PF16019
UniProt features (11 total): compositionally biased region 5, region of interest 2, splice variant 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WYN3-F1 | 60.42 | 0.26 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 219 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GCACCTT_MIR18A_MIR18B, RNGTGGGC_UNKNOWN, HNF3ALPHA_Q6, XU_GH1_AUTOCRINE_TARGETS_UP, TGCACTT_MIR519C_MIR519B_MIR519A, TGACCTY_ERR1_Q2, FOXO1_01, CAGGTCC_MIR492, AAAYRNCTG_UNKNOWN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, CAGCTG_AP4_Q5, GGCNKCCATNK_UNKNOWN, COUP_01, BRN2_01
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), apoptotic process (GO:0006915), positive regulation of apoptotic process (GO:0043065), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| positive regulation of DNA-templated transcription | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
480 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CSRNP3 | ENPP5 | Q9UJA9 | 478 |
| CSRNP3 | GPD2 | P43304 | 458 |
| CSRNP3 | SCGB3A2 | Q96PL1 | 454 |
| CSRNP3 | LMNTD1 | Q8N9Z9 | 453 |
| CSRNP3 | PDGFD | Q9GZP0 | 401 |
| CSRNP3 | DENND1A | Q8TEH3 | 386 |
| CSRNP3 | BSDC1 | Q9NW68 | 385 |
| CSRNP3 | KANSL1L | A0AUZ9 | 379 |
| CSRNP3 | SPHKAP | Q2M3C7 | 377 |
| CSRNP3 | SLC38A11 | Q08AI6 | 374 |
| CSRNP3 | NR6A1 | Q15406 | 373 |
| CSRNP3 | SCN3A | Q9NY46 | 366 |
| CSRNP3 | PPP2R3B | Q9Y5P8 | 366 |
| CSRNP3 | ANOS1 | P23352 | 360 |
| CSRNP3 | HRC | P23327 | 355 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP1CA | CSRNP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| JUP | CSRNP3 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (3): CSRNP3 (Affinity Capture-MS), CSRNP3 (Affinity Capture-MS), CSRNP3 (Affinity Capture-Western)
ESM2 similar proteins: A2X0Q0, B0S6S9, M0R5D6, O13606, O60291, O60381, P0C2N5, P16075, P32314, P59055, Q0P4S0, Q1LXZ9, Q28J76, Q2KJ34, Q2PFD7, Q3TEL6, Q3U8K7, Q4FZB7, Q5R7I3, Q5SPL2, Q5SW75, Q5XI67, Q5XIQ4, Q60DG4, Q61IS6, Q62661, Q66H65, Q6AXJ7, Q6DDX3, Q6GP60, Q6KAQ7, Q6NRK3, Q6PEV8, Q6YXZ4, Q76I76, Q865B7, Q8BGQ2, Q8BIA3, Q8CDG5, Q8IYH5
Diamond homologs: P59054, P59055, Q5R638, Q8BGQ2, Q8WYN3, Q96S65, Q9H175
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 11 |
| Likely pathogenic | 2 |
| Uncertain significance | 84 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (13)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1526930 | GRCh37/hg19 2q24.3(chr2:165794558-166633875) | Pathogenic |
| 153359 | GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1 | Pathogenic |
| 155321 | GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 | Pathogenic |
| 253660 | GRCh37/hg19 2q24.3(chr2:166094617-166931348)x3 | Pathogenic |
| 442768 | GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1 | Pathogenic |
| 530654 | NC_000002.12:g.(?165090130)(166228992_?)del | Pathogenic |
| 635920 | Single allele | Pathogenic |
| 813715 | GRCh37/hg19 2q24.3(chr2:166340583-166904859) | Pathogenic |
| 830392 | NC_000002.12:g.(?165090130)(166204484_?)del | Pathogenic |
| 984751 | GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1 | Pathogenic |
| 997058 | GRCh37/hg19 2q24.3(chr2:165903672-166666206) | Pathogenic |
| 153729 | GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3 | Likely pathogenic |
| 444847 | GRCh37/hg19 2q24.3(chr2:166221754-166646820)x1 | Likely pathogenic |
SpliceAI
2070 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:165494924:TACCA:T | donor_gain | 1.0000 |
| 2:165494926:CCA:C | donor_gain | 1.0000 |
| 2:165494927:CA:C | donor_gain | 1.0000 |
| 2:165494928:AG:A | donor_loss | 1.0000 |
| 2:165494929:G:GG | donor_gain | 1.0000 |
| 2:165494930:TGAG:T | donor_loss | 1.0000 |
| 2:165494931:GAGTA:G | donor_loss | 1.0000 |
| 2:165494932:AG:A | donor_loss | 1.0000 |
| 2:165517871:A:G | acceptor_gain | 1.0000 |
| 2:165517957:TCAAG:T | donor_loss | 1.0000 |
| 2:165517958:CAAGG:C | donor_loss | 1.0000 |
| 2:165517959:AAGGT:A | donor_loss | 1.0000 |
| 2:165517960:AG:A | donor_loss | 1.0000 |
| 2:165517961:GGT:G | donor_loss | 1.0000 |
| 2:165517962:GTT:G | donor_loss | 1.0000 |
| 2:165517963:T:A | donor_loss | 1.0000 |
| 2:165595035:T:A | acceptor_gain | 1.0000 |
| 2:165595040:CAGG:C | acceptor_loss | 1.0000 |
| 2:165595041:AGG:A | acceptor_loss | 1.0000 |
| 2:165595042:GGT:G | acceptor_gain | 1.0000 |
| 2:165595042:GGTA:G | acceptor_gain | 1.0000 |
| 2:165595042:GGTAC:G | acceptor_gain | 1.0000 |
| 2:165595209:TACCC:T | donor_gain | 1.0000 |
| 2:165595211:CCC:C | donor_gain | 1.0000 |
| 2:165595212:CC:C | donor_gain | 1.0000 |
| 2:165595213:CG:C | donor_loss | 1.0000 |
| 2:165595214:G:GG | donor_gain | 1.0000 |
| 2:165595214:GT:G | donor_loss | 1.0000 |
| 2:165595215:T:TG | donor_loss | 1.0000 |
| 2:165595216:GAG:G | donor_loss | 1.0000 |
AlphaMissense
3889 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:165657811:T:C | F67L | 1.000 |
| 2:165657812:T:C | F67S | 1.000 |
| 2:165657812:T:G | F67C | 1.000 |
| 2:165657813:T:A | F67L | 1.000 |
| 2:165657813:T:G | F67L | 1.000 |
| 2:165657821:T:A | V70D | 1.000 |
| 2:165657827:T:A | V72E | 1.000 |
| 2:165657829:T:G | Y73D | 1.000 |
| 2:165657835:T:A | F75I | 1.000 |
| 2:165657835:T:C | F75L | 1.000 |
| 2:165657835:T:G | F75V | 1.000 |
| 2:165657836:T:C | F75S | 1.000 |
| 2:165657836:T:G | F75C | 1.000 |
| 2:165657837:C:A | F75L | 1.000 |
| 2:165657837:C:G | F75L | 1.000 |
| 2:165657841:A:G | R77G | 1.000 |
| 2:165657842:G:C | R77T | 1.000 |
| 2:165657842:G:T | R77M | 1.000 |
| 2:165657843:G:C | R77S | 1.000 |
| 2:165657843:G:T | R77S | 1.000 |
| 2:165657849:A:C | Q79H | 1.000 |
| 2:165657849:A:T | Q79H | 1.000 |
| 2:165657850:G:C | G80R | 1.000 |
| 2:165657850:G:T | G80C | 1.000 |
| 2:165657851:G:A | G80D | 1.000 |
| 2:165657851:G:T | G80V | 1.000 |
| 2:165657853:T:A | F81I | 1.000 |
| 2:165657853:T:C | F81L | 1.000 |
| 2:165657853:T:G | F81V | 1.000 |
| 2:165657854:T:C | F81S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001242 (2:165580072 G>A), RS1000024753 (2:165594957 G>A,C,T), RS1000031155 (2:165517176 T>A,G), RS1000033356 (2:165641787 A>C), RS1000044897 (2:165510940 A>G), RS1000066482 (2:165547252 A>G), RS1000070540 (2:165501098 T>C), RS1000071115 (2:165654981 A>C), RS1000073280 (2:165530199 T>C), RS1000080799 (2:165494581 T>C), RS1000092822 (2:165593616 G>A,T), RS1000119650 (2:165667224 C>G,T), RS1000134727 (2:165494243 G>A), RS1000153067 (2:165687394 G>A), RS1000163494 (2:165621374 A>G)
Disease associations
OMIM: gene MIM:620405 | disease phenotypes: MIM:613863, MIM:201300, MIM:217990
GenCC curated gene-disease
Mondo (7): developmental and epileptic encephalopathy (MONDO:0100620), generalized epilepsy with febrile seizures plus, type 7 (MONDO:0013470), neuropathy, hereditary sensory and autonomic, type 2A (MONDO:0024309), epilepsy (MONDO:0005027), microcephaly (MONDO:0001149), complex neurodevelopmental disorder (MONDO:0100038), corpus callosum, agenesis of (MONDO:0009022)
Orphanet (5): Genetic epilepsy with febrile seizure plus (Orphanet:36387), Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970), Non-specific syndromic intellectual disability (Orphanet:528084), Lateral facial cleft (Orphanet:141269), Isolated corpus callosum agenesis (Orphanet:200)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002403_1 | Longevity (85 years and older) | 9.000000e-06 |
| GCST003209_9 | Colorectal or endometrial cancer | 4.000000e-06 |
| GCST005795_16 | Femoral neck bone mineral density | 6.000000e-16 |
| GCST005796_5 | Lumbar spine bone mineral density | 2.000000e-11 |
| GCST008103_11 | Bipolar disorder | 2.000000e-09 |
| GCST010002_403 | Refractive error | 1.000000e-11 |
| GCST012597_7 | Attention deficit hyperactivity disorder | 1.000000e-06 |
| GCST90011900_172 | Serum alkaline phosphatase levels | 3.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004230 | endometrial neoplasm |
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0007701 | spine bone mineral density |
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D061085 | Agenesis of Corpus Callosum | C10.500.034; C16.131.666.034; C23.300.008 |
| D004827 | Epilepsy | C10.228.140.490 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| C567827 | Generalized Epilepsy With Febrile Seizures Plus, 7 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs7588295 | Toxicity | 3 | Bisphosphonates | Osteonecrosis |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs7588295 | CSRNP3 | 3 | 0.00 | 1 | Bisphosphonates |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects expression, decreases expression | 4 |
| methylmercuric chloride | decreases expression, affects cotreatment | 3 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| hydroquinone | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Panobinostat | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Nickel | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00004637 | PHASE4 | COMPLETED | Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy |
| NCT00043914 | PHASE4 | COMPLETED | Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy |
| NCT00132223 | PHASE4 | UNKNOWN | Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients |
| NCT00133081 | PHASE4 | UNKNOWN | Study to Improve the Treatment of Epilepsy (SITE) |
| NCT00137709 | PHASE4 | UNKNOWN | Hormone Profiles in Adults With Newly Diagnosed Epilepsy |
| NCT00154076 | PHASE4 | COMPLETED | A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies |
| NCT00165828 | PHASE4 | TERMINATED | Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization |
| NCT00181116 | PHASE4 | COMPLETED | Levetiracetam for Benign Rolandic Epilepsy |
| NCT00207935 | PHASE4 | COMPLETED | Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population |
| NCT00215592 | PHASE4 | COMPLETED | Open Label, Zonegran (Zonisamide) In Partial Onset Seizures |
| NCT00266604 | PHASE4 | COMPLETED | A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy |
| NCT00288639 | PHASE4 | COMPLETED | Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). |
| NCT00312676 | PHASE4 | UNKNOWN | Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote |
| NCT00323947 | PHASE4 | COMPLETED | Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy |
| NCT00385411 | PHASE4 | COMPLETED | Study of Valproate in Young Patients Suffering From Epilepsy |
| NCT00522418 | PHASE4 | TERMINATED | Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients |
| NCT00537940 | PHASE4 | COMPLETED | Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures |
| NCT00552526 | PHASE4 | UNKNOWN | Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy |
| NCT00564915 | PHASE4 | COMPLETED | RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy |
| NCT00571155 | PHASE4 | COMPLETED | Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery |
| NCT00572195 | PHASE4 | COMPLETED | RNS® System LTT Study |
| NCT00610532 | PHASE4 | TERMINATED | Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy |
| NCT00630357 | PHASE4 | COMPLETED | Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy |
| NCT00630630 | PHASE4 | COMPLETED | Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy |
| NCT00630968 | PHASE4 | COMPLETED | S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy |
| NCT00631150 | PHASE4 | COMPLETED | A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy |
| NCT00659958 | PHASE4 | COMPLETED | ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs |
| NCT00713622 | PHASE4 | COMPLETED | Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate |
| NCT00807989 | PHASE4 | COMPLETED | The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy |
| NCT00832884 | PHASE4 | COMPLETED | The Safety of Intravenous Lacosamide |
| NCT00869622 | PHASE4 | COMPLETED | Antiepileptic Drugs and Osteoporotic Prevention Trial |
| NCT00896987 | PHASE4 | COMPLETED | Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies |
| NCT00952081 | PHASE4 | COMPLETED | A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients |
| NCT01118455 | PHASE4 | TERMINATED | Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures |
| NCT01127165 | PHASE4 | COMPLETED | Low and High Dose Zonisamide in Children as Monotherapy |
| NCT01127256 | PHASE4 | COMPLETED | Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation |
| NCT01140867 | PHASE4 | COMPLETED | Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy |
| NCT01175954 | PHASE4 | COMPLETED | Cognitive and Behavioral Effects of Lacosamide |
| NCT01229735 | PHASE4 | COMPLETED | Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures |
| NCT01244724 | PHASE4 | TERMINATED | Lexapro for Major Depression in Patients With Epilepsy |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): corpus callosum, agenesis of, developmental and epileptic encephalopathy, generalized epilepsy with febrile seizures plus, type 7, neuropathy, hereditary sensory and autonomic, type 2A