CSRP2
gene geneOn this page
Also known as SmLIMCRP2LMO5
Summary
CSRP2 (cysteine and glycine rich protein 2, HGNC:2470) is a protein-coding gene on chromosome 12q21.2, encoding Cysteine and glycine-rich protein 2 (Q16527). Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation.
CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 1466 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 25 total
- Druggable target: yes
- MANE Select transcript:
NM_001321
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2470 |
| Approved symbol | CSRP2 |
| Name | cysteine and glycine rich protein 2 |
| Location | 12q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SmLIM, CRP2, LMO5 |
| Ensembl gene | ENSG00000175183 |
| Ensembl biotype | protein_coding |
| OMIM | 601871 |
| Entrez | 1466 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 24 protein_coding, 3 retained_intron
ENST00000311083, ENST00000546966, ENST00000547435, ENST00000547557, ENST00000548783, ENST00000551725, ENST00000552330, ENST00000909815, ENST00000909816, ENST00000909817, ENST00000909818, ENST00000909819, ENST00000909820, ENST00000909821, ENST00000909822, ENST00000919906, ENST00000919907, ENST00000919908, ENST00000919909, ENST00000919910, ENST00000919911, ENST00000919912, ENST00000919913, ENST00000919914, ENST00000919915, ENST00000919916, ENST00000965133
RefSeq mRNA: 9 — MANE Select: NM_001321
NM_001300965, NM_001321, NM_001413535, NM_001413537, NM_001413538, NM_001413539, NM_001413540, NM_001413541, NM_001413542
CCDS: CCDS9015
Canonical transcript exons
ENST00000311083 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001210521 | 76860284 | 76860413 |
| ENSE00001210527 | 76863176 | 76863344 |
| ENSE00001210540 | 76866149 | 76866261 |
| ENSE00002337743 | 76878938 | 76879019 |
| ENSE00002397508 | 76858709 | 76859028 |
| ENSE00003587346 | 76859547 | 76859640 |
Expression profiles
Bgee: expression breadth ubiquitous, 297 present calls, max score 99.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.6958 / max 850.8149, expressed in 1455 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 132231 | 19.6057 | 1455 |
| 132227 | 0.0318 | 5 |
| 132229 | 0.0282 | 10 |
| 132230 | 0.0257 | 7 |
| 132228 | 0.0044 | 2 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 99.86 | gold quality |
| secondary oocyte | CL:0000655 | 99.82 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.57 | gold quality |
| cortical plate | UBERON:0005343 | 99.51 | gold quality |
| blood vessel layer | UBERON:0004797 | 99.46 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.08 | gold quality |
| popliteal artery | UBERON:0002250 | 99.07 | gold quality |
| tibial artery | UBERON:0007610 | 99.07 | gold quality |
| embryo | UBERON:0000922 | 98.99 | gold quality |
| artery | UBERON:0001637 | 98.96 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.92 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.91 | gold quality |
| right coronary artery | UBERON:0001625 | 98.88 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.77 | gold quality |
| parietal pleura | UBERON:0002400 | 98.70 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.60 | gold quality |
| aorta | UBERON:0000947 | 98.54 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.53 | gold quality |
| gingiva | UBERON:0001828 | 98.50 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.50 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.49 | gold quality |
| coronary artery | UBERON:0001621 | 98.40 | gold quality |
| left coronary artery | UBERON:0001626 | 98.35 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.13 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.86 | gold quality |
| pleura | UBERON:0000977 | 97.79 | gold quality |
| ascending aorta | UBERON:0001496 | 97.79 | gold quality |
| cervix epithelium | UBERON:0004801 | 97.78 | gold quality |
| urethra | UBERON:0000057 | 97.50 | gold quality |
| endothelial cell | CL:0000115 | 97.35 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10485 | yes | 1550.15 |
| E-HCAD-5 | yes | 1426.55 |
| E-GEOD-84465 | yes | 721.78 |
| E-MTAB-9435 | yes | 680.11 |
| E-MTAB-8205 | yes | 578.97 |
| E-MTAB-10287 | yes | 66.82 |
| E-MTAB-6701 | yes | 63.32 |
| E-GEOD-137537 | yes | 33.32 |
| E-HCAD-11 | yes | 28.18 |
| E-MTAB-7316 | yes | 26.04 |
| E-MTAB-8410 | yes | 25.82 |
| E-CURD-46 | yes | 11.76 |
| E-MTAB-9388 | yes | 10.91 |
| E-MTAB-10290 | no | 370.11 |
| E-MTAB-10137 | no | 8.15 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPB, CREB1, SMAD2, SMAD3, SP1, SRF
miRNA regulators (miRDB)
28 targeting CSRP2, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-133A-5P | 99.28 | 69.13 | 941 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-6529-3P | 98.68 | 66.76 | 1020 |
| HSA-MIR-138-5P | 98.43 | 70.49 | 1292 |
| HSA-MIR-5000-5P | 97.40 | 66.11 | 1055 |
| HSA-MIR-6131 | 97.22 | 66.72 | 960 |
| HSA-MIR-550B-2-5P | 96.56 | 64.61 | 646 |
| HSA-MIR-6858-3P | 96.37 | 64.41 | 771 |
Literature-anchored findings (GeneRIF, showing 6)
- the effect of proteasome inhibition on IL-10 activation of the IL-10E1 pathway [Il-10E1] (PMID:12861049)
- CSRP2 promoted cell proliferation, cell-cycle progression, in vitro colony formation and cell migration ability. Abnormal CSRP2 expression was associated with resistance to chemotherapy; sensitivity was restored by down-regulating CSRP2 expression. (PMID:28415593)
- Study showed that CSRP2, an invadopodial actin bundling protein, is upregulated by hypoxia in various breast cancer cell lines, as well as in pre-clinical and clinical breast tumor specimens and functionally characterized two hypoxia responsive elements within the proximal promoter of CSRP2 gene which are targeted by hypoxia-inducible factor-1 (HIF-1) and required for promoter transactivation in response to hypoxia. (PMID:29976963)
- CSRP2 suppresses colorectal cancer progression via p130Cas/Rac1 axis-meditated ERK, PAK, and HIPPO signaling pathways. (PMID:33042270)
- Role of CRP2-MRTF interaction in functions of myofibroblasts. (PMID:37164693)
- Significance of the p38MAPK-CRP2 axis in myofibroblastic phenotypic transition. (PMID:37899269)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | csrp2 | ENSDARG00000011961 |
| mus_musculus | Csrp2 | ENSMUSG00000020186 |
| rattus_norvegicus | Csrp2 | ENSRNOG00000003772 |
| drosophila_melanogaster | Mlp84B | FBGN0014863 |
| drosophila_melanogaster | Mlp60A | FBGN0259209 |
| caenorhabditis_elegans | WBGENE00003375 |
Paralogs (2): CSRP3 (ENSG00000129170), CSRP1 (ENSG00000159176)
Protein
Protein identifiers
Cysteine and glycine-rich protein 2 — Q16527 (reviewed: Q16527)
Alternative names: Cysteine-rich protein 2, LIM domain only protein 5, Smooth muscle cell LIM protein
All UniProt accessions (4): A0A024RBB5, Q16527, F8VQR7, F8VW96
UniProt curated annotations — full annotation on UniProt →
Function. Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation. Seems to play a role in the development of the embryonic vascular system.
Subunit / interactions. Interacts with KAT14. The LIM domain 1 is necessary and sufficient for this interaction. Interacts with GLRX3.
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in the aorta, but not in heart and skeletal muscle.
RefSeq proteins (9): NP_001287894, NP_001312, NP_001400464, NP_001400466, NP_001400467, NP_001400468, NP_001400469, NP_001400470, NP_001400471 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001781 | Znf_LIM | Domain |
Pfam: PF00412
UniProt features (10 total): modified residue 5, domain 2, chain 1, short sequence motif 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16527-F1 | 71.07 | 0.00 |
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 (6): 112, 131, 137, 137, 161, 91
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 259 (showing top):
MODULE_52, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_SARCOMERE_ORGANIZATION, MODULE_66, MODULE_118, WEI_MYCN_TARGETS_WITH_E_BOX, BROWNE_HCMV_INFECTION_48HR_DN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, MODULE_75, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, LE_EGR2_TARGETS_UP
GO Biological Process (3): cell differentiation (GO:0030154), sarcomere organization (GO:0045214), muscle tissue development (GO:0060537)
GO Molecular Function (4): structural constituent of muscle (GO:0008307), actinin binding (GO:0042805), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), focal adhesion (GO:0005925), Z disc (GO:0030018)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cellular developmental process | 1 |
| myofibril assembly | 1 |
| actomyosin structure organization | 1 |
| tissue development | 1 |
| structural molecule activity | 1 |
| cytoskeletal protein binding | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cell-substrate junction | 1 |
| I band | 1 |
Protein interactions and networks
STRING
916 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CSRP2 | SRF | P11831 | 570 |
| CSRP2 | SPARC | P09486 | 545 |
| CSRP2 | PIAS1 | O75925 | 544 |
| CSRP2 | LMO1 | P25800 | 493 |
| CSRP2 | GATA5 | Q9BWX5 | 433 |
| CSRP2 | MED14 | O60244 | 426 |
| CSRP2 | RNF168 | Q8IYW5 | 426 |
| CSRP2 | PRL | P01236 | 425 |
| CSRP2 | PIAS4 | Q8N2W9 | 423 |
| CSRP2 | TAGLN | Q01995 | 423 |
| CSRP2 | CDH17 | Q12864 | 405 |
| CSRP2 | RPL26 | P61254 | 402 |
| CSRP2 | FBXW5 | Q969U6 | 399 |
| CSRP2 | BAG1 | Q99933 | 396 |
| CSRP2 | RNF8 | O76064 | 395 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CSRP2 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSRP2 | ARC | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSRP2 | COG6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM23 | CSRP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPS1 | PXDNL | psi-mi:“MI:0914”(association) | 0.530 |
| CSRP2 | STK4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| TK | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| VWA8 | psi-mi:“MI:0914”(association) | 0.350 | |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| KPNA4 | psi-mi:“MI:0914”(association) | 0.350 | |
| BCAR1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| BCAR1 | ARHGEF11 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAR1 | CEP290 | psi-mi:“MI:0914”(association) | 0.350 |
| VMP1 | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP11B | RPN1 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL1 | psi-mi:“MI:0914”(association) | 0.350 | |
| VCP | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (86): TRIM27 (Two-hybrid), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Proximity Label-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Proximity Label-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS), CSRP2 (Affinity Capture-MS)
ESM2 similar proteins: O00151, O04193, O35115, O70400, O70433, O80839, P21291, P29675, P36201, P47875, P50238, P50461, P50462, P50463, P50464, P52943, P52944, P53777, P63254, P63255, P67966, P67967, P97315, Q0VFX8, Q14192, Q16527, Q1ECF5, Q1LZA7, Q24400, Q2KI95, Q3MHY1, Q4KM31, Q4U0T9, Q500W4, Q56K04, Q5E9E1, Q5R7Y1, Q5RCT4, Q5RGJ5, Q5ZLR4
Diamond homologs: B0KYV5, D4A1F2, F1LR10, F1MF74, F1QH17, F1QWK4, F1RA39, F6QZ15, G3MWR8, G5EF51, O04193, O60952, O77506, O80839, O94851, P21291, P29675, P36201, P47875, P50460, P50461, P50462, P50463, P52943, P53777, P67966, P67967, P97314, P97315, Q05158, Q0E908, Q0VFX8, Q14847, Q16527, Q1ECF5, Q1LZA7, Q32LE9, Q3B7M5, Q3MHY1, Q4KM31
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1065 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:76860278:CTTTA:C | donor_loss | 1.0000 |
| 12:76860279:TTTA:T | donor_loss | 1.0000 |
| 12:76860280:TTA:T | donor_loss | 1.0000 |
| 12:76860281:TACCT:T | donor_loss | 1.0000 |
| 12:76860283:C:A | donor_loss | 1.0000 |
| 12:76860412:CACT:C | acceptor_gain | 1.0000 |
| 12:76860415:T:C | acceptor_gain | 1.0000 |
| 12:76860415:T:TC | acceptor_gain | 1.0000 |
| 12:76860417:G:GC | acceptor_gain | 1.0000 |
| 12:76863171:CTCA:C | donor_loss | 1.0000 |
| 12:76863172:TCA:T | donor_loss | 1.0000 |
| 12:76863173:CAC:C | donor_loss | 1.0000 |
| 12:76863174:A:AT | donor_loss | 1.0000 |
| 12:76863175:CCT:C | donor_gain | 1.0000 |
| 12:76863175:CCTCT:C | donor_gain | 1.0000 |
| 12:76863342:CCA:C | acceptor_gain | 1.0000 |
| 12:76863343:CA:C | acceptor_gain | 1.0000 |
| 12:76863343:CAC:C | acceptor_gain | 1.0000 |
| 12:76863345:C:CC | acceptor_gain | 1.0000 |
| 12:76866147:A:AC | donor_gain | 1.0000 |
| 12:76866148:C:CC | donor_gain | 1.0000 |
| 12:76866148:CTG:C | donor_gain | 1.0000 |
| 12:76878936:A:AC | donor_gain | 1.0000 |
| 12:76878937:C:CC | donor_gain | 1.0000 |
| 12:76859636:CAGGG:C | acceptor_gain | 0.9900 |
| 12:76859641:C:CC | acceptor_gain | 0.9900 |
| 12:76860412:CA:C | acceptor_gain | 0.9900 |
| 12:76860414:C:CC | acceptor_gain | 0.9900 |
| 12:76860417:G:C | acceptor_gain | 0.9900 |
| 12:76863174:A:AC | donor_gain | 0.9900 |
AlphaMissense
1264 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:76858992:C:T | G181D | 1.000 |
| 12:76859007:C:T | G176E | 1.000 |
| 12:76859026:A:G | C170R | 1.000 |
| 12:76859552:C:G | C167S | 1.000 |
| 12:76859552:C:T | C167Y | 1.000 |
| 12:76859553:A:G | C167R | 1.000 |
| 12:76859553:A:T | C167S | 1.000 |
| 12:76859594:A:T | L153H | 1.000 |
| 12:76859606:C:G | C149S | 1.000 |
| 12:76859607:A:G | C149R | 1.000 |
| 12:76859607:A:T | C149S | 1.000 |
| 12:76859614:A:C | C146W | 1.000 |
| 12:76859615:C:G | C146S | 1.000 |
| 12:76859615:C:T | C146Y | 1.000 |
| 12:76859616:A:G | C146R | 1.000 |
| 12:76859616:A:T | C146S | 1.000 |
| 12:76859624:C:G | C143S | 1.000 |
| 12:76859625:A:G | C143R | 1.000 |
| 12:76859625:A:T | C143S | 1.000 |
| 12:76859637:A:G | W139R | 1.000 |
| 12:76859637:A:T | W139R | 1.000 |
| 12:76860330:C:G | C122S | 1.000 |
| 12:76860331:A:T | C122S | 1.000 |
| 12:76860339:C:G | C119S | 1.000 |
| 12:76860340:A:G | C119R | 1.000 |
| 12:76860340:A:T | C119S | 1.000 |
| 12:76863242:C:T | G72D | 1.000 |
| 12:76863257:C:T | G67E | 1.000 |
| 12:76863276:A:G | C61R | 1.000 |
| 12:76863283:G:C | C58W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005269 (12:76863125 A>G), RS1000172569 (12:76874639 T>A,C), RS1000267545 (12:76880161 G>A), RS1000616247 (12:76870583 T>C), RS1000626906 (12:76876057 T>G), RS1000690319 (12:76874386 C>G,T), RS1000838911 (12:76864484 T>C), RS1000883014 (12:76869080 G>T), RS1000913153 (12:76876325 C>A), RS1000946253 (12:76862561 T>G), RS1000996374 (12:76875037 C>G), RS1001338566 (12:76864293 A>G,T), RS1001450277 (12:76877052 T>G), RS1001618511 (12:76870683 T>C), RS1001691318 (12:76864186 A>G)
Disease associations
OMIM: gene MIM:601871 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003833_8 | Adult asthma | 2.000000e-06 |
| GCST012292_6 | Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction | 3.000000e-06 |
| GCST012295_3 | Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction | 7.000000e-07 |
| GCST012298_7 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 9.000000e-07 |
| GCST012299_22 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction (3df) | 2.000000e-06 |
| GCST012300_1 | Schizophrenia, bipolar disorder or major depressive disorder | 5.000000e-06 |
| GCST012301_14 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 2.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004952 | disease recurrence |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295833 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
85 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | decreases expression | 4 |
| bisphenol A | affects expression, decreases expression, decreases methylation | 3 |
| trichostatin A | decreases expression, affects cotreatment | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 2 |
| Temozolomide | decreases response to substance, increases expression | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Arsenic | increases abundance, increases expression, affects cotreatment, decreases expression | 2 |
| Doxorubicin | affects expression, increases expression | 2 |
| Estradiol | decreases expression, affects expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Aflatoxin B1 | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| tungsten carbide | affects cotreatment, increases expression | 1 |
| lead acetate | increases expression | 1 |
| sodium arsenate | increases expression, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chloride | decreases reaction, increases expression | 1 |
| 2-amino-9H-pyrido(2,3-b)indole | decreases expression | 1 |
| cobaltous chloride | decreases reaction, increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| hydroquinone | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118574 | Binding | Binding affinity to CSRP2 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
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.