LDB2
gene geneOn this page
Also known as CLIM1LDB1
Summary
LDB2 (LIM domain binding 2, HGNC:6533) is a protein-coding gene on chromosome 4p15.32, encoding LIM domain-binding protein 2 (O43679). Transcription cofactor. It is a selective cancer dependency (DepMap: 14.7% of cell lines).
The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9079 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 40 total
- Cancer dependency (DepMap): dependent in 14.7% of screened cell lines
- MANE Select transcript:
NM_001290
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6533 |
| Approved symbol | LDB2 |
| Name | LIM domain binding 2 |
| Location | 4p15.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CLIM1, LDB1 |
| Ensembl gene | ENSG00000169744 |
| Ensembl biotype | protein_coding |
| OMIM | 603450 |
| Entrez | 9079 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 10 protein_coding, 6 protein_coding_CDS_not_defined, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000304523, ENST00000441778, ENST00000502640, ENST00000503153, ENST00000503829, ENST00000504189, ENST00000504886, ENST00000506732, ENST00000507464, ENST00000508804, ENST00000508918, ENST00000509803, ENST00000510825, ENST00000512345, ENST00000513457, ENST00000515064, ENST00000854229, ENST00000854230, ENST00000854231, ENST00000854232
RefSeq mRNA: 4 — MANE Select: NM_001290
NM_001130834, NM_001290, NM_001304434, NM_001304435
CCDS: CCDS3420, CCDS47031, CCDS77902, CCDS77903
Canonical transcript exons
ENST00000304523 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002064728 | 16898354 | 16898645 |
| ENSE00003511794 | 16759158 | 16759260 |
| ENSE00003568401 | 16508535 | 16508686 |
| ENSE00003577402 | 16585922 | 16586005 |
| ENSE00003594803 | 16511981 | 16512104 |
| ENSE00003627305 | 16595703 | 16595875 |
| ENSE00003637535 | 16588710 | 16588832 |
| ENSE00003668908 | 16501541 | 16502873 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 98.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.1095 / max 596.7868, expressed in 1035 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 51518 | 18.9621 | 978 |
| 51516 | 1.5776 | 582 |
| 51520 | 0.9354 | 524 |
| 51515 | 0.7666 | 383 |
| 51517 | 0.7487 | 379 |
| 51521 | 0.7426 | 457 |
| 51514 | 0.6484 | 269 |
| 51519 | 0.3585 | 216 |
| 51522 | 0.3214 | 138 |
| 51505 | 0.0482 | 23 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lung | UBERON:0002167 | 98.56 | gold quality |
| cortical plate | UBERON:0005343 | 97.91 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.82 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.14 | gold quality |
| body of uterus | UBERON:0009853 | 96.77 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.71 | gold quality |
| vena cava | UBERON:0004087 | 96.52 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 96.39 | gold quality |
| primary visual cortex | UBERON:0002436 | 96.13 | gold quality |
| frontal pole | UBERON:0002795 | 96.00 | gold quality |
| omental fat pad | UBERON:0010414 | 95.68 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 95.67 | gold quality |
| peritoneum | UBERON:0002358 | 95.66 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.62 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.58 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.53 | gold quality |
| pericardium | UBERON:0002407 | 95.47 | gold quality |
| occipital lobe | UBERON:0002021 | 95.44 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.43 | gold quality |
| endocervix | UBERON:0000458 | 95.42 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.41 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.39 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.32 | gold quality |
| lung | UBERON:0002048 | 95.17 | gold quality |
| adipose tissue | UBERON:0001013 | 95.12 | gold quality |
| parietal lobe | UBERON:0001872 | 95.09 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 94.97 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.85 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.71 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 94.67 | gold quality |
Single-cell (SCXA)
Detected in 25 experiment(s), a significant marker in 23.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 6940.63 |
| E-GEOD-131882 | yes | 6484.08 |
| E-CURD-119 | yes | 5060.89 |
| E-MTAB-11268 | yes | 4798.60 |
| E-HCAD-35 | yes | 1296.30 |
| E-HCAD-25 | yes | 951.44 |
| E-CURD-112 | yes | 745.42 |
| E-GEOD-109979 | yes | 163.23 |
| E-CURD-53 | yes | 114.24 |
| E-MTAB-10287 | yes | 75.93 |
| E-HCAD-10 | yes | 58.48 |
| E-MTAB-10553 | yes | 54.57 |
| E-HCAD-1 | yes | 47.24 |
| E-GEOD-134144 | yes | 43.97 |
| E-GEOD-135922 | yes | 37.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
67 targeting LDB2, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 14.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- The transcription co-factor LIM domain binding 2 (LDB2) was identified as a potential high-hierarchy regulator of the atherosclerosis-module. (PMID:19997623)
- LDB2 was the most connected gene in a transcription factor regulatory network inferred from transendothelial migration of leukocyte and atherosclerosis module genes in coronary and carotid artery disease macrophages. (PMID:24925974)
- The regulation of DLL4 by the LDB2 complex provides a novel mechanism of DLL4 transcriptional control that may be exploited to develop therapeutics for aberrant vascular remodeling. (PMID:28946938)
- Cooperation of LIM domain-binding 2 (LDB2) with EGR in the pathogenesis of schizophrenia. (PMID:33656268)
- [LIM-domain binding protein 2 regulated by m(6)A modification inhibits lung adenocarcinoma cell proliferation in vitro]. (PMID:33849822)
- LIM-domain binding protein 2 was down-regulated by miRNA-96-5p inhibited the proliferation, invasion and metastasis of lung cancer H1299 cells. (PMID:36473369)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ldb2a | ENSDARG00000019579 |
| danio_rerio | ldb2b | ENSDARG00000034896 |
| mus_musculus | Ldb2 | ENSMUSG00000039706 |
| rattus_norvegicus | Ldb2 | ENSRNOG00000003205 |
| drosophila_melanogaster | Chi | FBGN0013764 |
| caenorhabditis_elegans | WBGENE00002261 |
Paralogs (1): LDB1 (ENSG00000198728)
Protein
Protein identifiers
LIM domain-binding protein 2 — O43679 (reviewed: O43679)
Alternative names: Carboxyl-terminal LIM domain-binding protein 1, LIM domain-binding factor CLIM1
All UniProt accessions (7): D6RAT1, E7EX95, E9PFI4, E9PGU0, O43679, G5E9Y7, H0YA09
UniProt curated annotations — full annotation on UniProt →
Function. Transcription cofactor. Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors.
Subunit / interactions. Interacts with LHX9. Interacts with SLK; leading to negatively regulate SLK kinase activity. Interacts with LMO4.
Subcellular location. Nucleus.
Post-translational modifications. Ubiquitinated by RLIM/RNF12, leading to its degradation by the proteasome.
Miscellaneous. Lacks LIM-binding domain.
Similarity. Belongs to the LDB family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43679-1 | 1, a, CLIM1a | yes |
| O43679-2 | 2, b, CLIM1b | |
| O43679-3 | 3 |
RefSeq proteins (4): NP_001124306, NP_001281, NP_001291363, NP_001291364 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029005 | LIM-bd/SEUSS | Family |
| IPR041363 | LID | Domain |
Pfam: PF01803, PF17916
UniProt features (10 total): splice variant 4, region of interest 2, compositionally biased region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43679-F1 | 73.80 | 0.43 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 539 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_HEMOGLOBIN_METABOLIC_PROCESS, GOBP_CHROMOSOME_ORGANIZATION, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_AXIS_SPECIFICATION, GOBP_MYELOID_CELL_HOMEOSTASIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, CCAWYNNGAAR_UNKNOWN, GOBP_REGULATION_OF_PHOSPHORYLATION, RORA1_01, GCANCTGNY_MYOD_Q6, GOBP_FOCAL_ADHESION_ASSEMBLY
GO Biological Process (9): negative regulation of transcription by RNA polymerase II (GO:0000122), hair follicle development (GO:0001942), nervous system development (GO:0007399), epithelial structure maintenance (GO:0010669), regulation of cell migration (GO:0030334), somatic stem cell population maintenance (GO:0035019), regulation of kinase activity (GO:0043549), positive regulation of cellular component biogenesis (GO:0044089), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (4): transcription coregulator activity (GO:0003712), enzyme binding (GO:0019899), LIM domain binding (GO:0030274), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), nucleolus (GO:0005730), plasma membrane (GO:0005886), cell leading edge (GO:0031252)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| hair cycle process | 1 |
| anatomical structure development | 1 |
| skin epidermis development | 1 |
| system development | 1 |
| tissue homeostasis | 1 |
| cell migration | 1 |
| regulation of cell motility | 1 |
| stem cell population maintenance | 1 |
| kinase activity | 1 |
| regulation of phosphorylation | 1 |
| regulation of transferase activity | 1 |
| cellular component biogenesis | 1 |
| regulation of cellular component biogenesis | 1 |
| positive regulation of cellular process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| protein binding | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1576 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LDB2 | LMO2 | P25791 | 998 |
| LDB2 | TAL1 | P17542 | 995 |
| LDB2 | GATA1 | P15976 | 995 |
| LDB2 | TCF3 | P15883 | 992 |
| LDB2 | GATA2 | P23769 | 982 |
| LDB2 | CBFA2T3 | O75081 | 981 |
| LDB2 | LYL1 | P12980 | 965 |
| LDB2 | ISL1 | P20663 | 944 |
| LDB2 | LMO1 | P25800 | 922 |
| LDB2 | LHX2 | P50458 | 907 |
| LDB2 | LHX3 | Q9UBR4 | 907 |
| LDB2 | ZFPM1 | Q8IX07 | 900 |
| LDB2 | RUNX1 | Q01196 | 882 |
| LDB2 | BEX2 | Q9BXY8 | 875 |
| LDB2 | BEX1 | Q9HBH7 | 875 |
IntAct
93 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LDB2 | LMO4 | psi-mi:“MI:0915”(physical association) | 0.800 |
| LMO4 | LDB2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| LDB2 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.670 |
| MYDGF | LDB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | MYDGF | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | LNX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | LMO3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | GGACT | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | DGCR6L | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | TTC19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | LMO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | PSMB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDCBP | LDB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | C14orf119 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | EGLN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | HDAC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | EPM2AIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | EXOC3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CETN3 | LDB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | SMARCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | LMO2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | LMO3 | psi-mi:“MI:0915”(physical association) | 0.550 |
| LDB2 | SSBP3 | psi-mi:“MI:0915”(physical association) | 0.550 |
BioGRID (37): LHX4 (Two-hybrid), LMO3 (Two-hybrid), LMO4 (Two-hybrid), RASIP1 (Two-hybrid), RILP (Two-hybrid), SSBP2 (Two-hybrid), SSBP3 (Two-hybrid), TSNAX (Two-hybrid), LDB2 (Affinity Capture-MS), LDB2 (Two-hybrid), LDB2 (Two-hybrid), LDB2 (Two-hybrid), LDB2 (Two-hybrid), LDB2 (Two-hybrid), LDB2 (Two-hybrid)
ESM2 similar proteins: A1C602, A1DG01, A1DMG9, A2QFG8, A2VDM8, A5DF43, A6SP81, A7EAG1, B0XVV1, B1AWL2, B6HSQ3, B6Q3B6, B8LT44, B8N6M6, C4JFE4, C4R1K8, C5FP02, C5PHH6, C7YM38, D4AL61, D4D2Y6, E4UP58, E5DG73, O42252, O43679, O55203, P28348, P28349, P52959, P70060, Q03297, Q05534, Q0CHR0, Q13233, Q1EQW7, Q2UD93, Q2UMM2, Q2YDF2, Q4WHB7, Q4WHD1
Diamond homologs: G5EEL0, O42252, O43679, O55203, O73715, P70060, P70662, Q1EQW7, Q6NVL6, Q86U70, Q9W676
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RLIM | “down-regulates quantity by destabilization” | LDB2 | polyubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4405 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:16508533:A:AC | donor_gain | 1.0000 |
| 4:16508534:C:CC | donor_gain | 1.0000 |
| 4:16508682:TTCTG:T | acceptor_gain | 1.0000 |
| 4:16508683:TCTG:T | acceptor_loss | 1.0000 |
| 4:16508684:CTG:C | acceptor_gain | 1.0000 |
| 4:16508685:TG:T | acceptor_gain | 1.0000 |
| 4:16508686:GC:G | acceptor_loss | 1.0000 |
| 4:16508687:C:CC | acceptor_gain | 1.0000 |
| 4:16508687:C:CG | acceptor_loss | 1.0000 |
| 4:16508688:T:A | acceptor_loss | 1.0000 |
| 4:16508691:A:T | acceptor_gain | 1.0000 |
| 4:16508692:A:AC | acceptor_gain | 1.0000 |
| 4:16508694:A:C | acceptor_gain | 1.0000 |
| 4:16512100:CACAA:C | acceptor_gain | 1.0000 |
| 4:16512102:CAA:C | acceptor_gain | 1.0000 |
| 4:16512105:C:CC | acceptor_gain | 1.0000 |
| 4:16585920:AC:A | donor_gain | 1.0000 |
| 4:16585921:CC:C | donor_gain | 1.0000 |
| 4:16588704:A:AC | donor_gain | 1.0000 |
| 4:16588705:C:CC | donor_gain | 1.0000 |
| 4:16588706:TTA:T | donor_loss | 1.0000 |
| 4:16588707:TAC:T | donor_loss | 1.0000 |
| 4:16588708:A:AC | donor_gain | 1.0000 |
| 4:16588708:A:AT | donor_loss | 1.0000 |
| 4:16588708:ACATG:A | donor_gain | 1.0000 |
| 4:16588709:C:CG | donor_gain | 1.0000 |
| 4:16588709:CA:C | donor_gain | 1.0000 |
| 4:16588709:CAT:C | donor_gain | 1.0000 |
| 4:16588709:CATG:C | donor_gain | 1.0000 |
| 4:16588709:CATGC:C | donor_gain | 1.0000 |
AlphaMissense
2487 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:16502790:G:C | N325K | 1.000 |
| 4:16502790:G:T | N325K | 1.000 |
| 4:16502797:A:G | L323S | 1.000 |
| 4:16502799:T:A | R322S | 1.000 |
| 4:16502799:T:G | R322S | 1.000 |
| 4:16502800:C:G | R322T | 1.000 |
| 4:16502806:A:C | I320S | 1.000 |
| 4:16502806:A:G | I320T | 1.000 |
| 4:16502806:A:T | I320N | 1.000 |
| 4:16502811:C:A | R318S | 1.000 |
| 4:16502811:C:G | R318S | 1.000 |
| 4:16502812:C:A | R318M | 1.000 |
| 4:16502851:G:T | P305Q | 1.000 |
| 4:16502852:G:A | P305S | 1.000 |
| 4:16502852:G:T | P305T | 1.000 |
| 4:16512003:C:A | W239C | 1.000 |
| 4:16512003:C:G | W239C | 1.000 |
| 4:16512005:A:G | W239R | 1.000 |
| 4:16512005:A:T | W239R | 1.000 |
| 4:16512012:A:C | F236L | 1.000 |
| 4:16512012:A:T | F236L | 1.000 |
| 4:16512013:A:C | F236C | 1.000 |
| 4:16512013:A:G | F236S | 1.000 |
| 4:16512014:A:G | F236L | 1.000 |
| 4:16512016:A:C | L235W | 1.000 |
| 4:16512028:A:G | L231P | 1.000 |
| 4:16512028:A:T | L231Q | 1.000 |
| 4:16512030:G:C | C230W | 1.000 |
| 4:16512031:C:T | C230Y | 1.000 |
| 4:16512032:A:G | C230R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005978 (4:16775610 A>G), RS1000025497 (4:16622522 A>G), RS1000031377 (4:16883963 T>A,C), RS1000031502 (4:16858330 A>G), RS1000032669 (4:16581158 T>G), RS1000052430 (4:16760431 G>T), RS1000055580 (4:16571499 A>G), RS1000056785 (4:16851351 C>G,T), RS1000074383 (4:16662870 T>C), RS10000826 (4:16887027 C>A,T), RS1000084451 (4:16686988 T>G), RS1000096559 (4:16647149 A>G), RS1000097965 (4:16885404 G>A), RS1000106674 (4:16858579 C>T), RS1000107207 (4:16817283 C>T)
Disease associations
OMIM: gene MIM:603450 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001922_7 | QT interval | 7.000000e-06 |
| GCST001966_4 | Rhegmatogenous retinal detachment | 5.000000e-06 |
| GCST004025_22 | Systemic juvenile idiopathic arthritis | 4.000000e-06 |
| GCST004790_1 | Change in LVEF in response to paclitaxel and trastuzumab in HER2+ breast cancer | 9.000000e-08 |
| GCST007326_2 | Number of sexual partners | 1.000000e-08 |
| GCST008151_45 | Waist circumference | 5.000000e-06 |
| GCST008160_40 | Waist circumference | 5.000000e-06 |
| GCST010678_2 | Liver fibrosis (total hepatic collagen content) | 2.000000e-06 |
| GCST011998_16 | Glucocorticoid receptor gene expression in B-cell precursor acute lymphoblastic leukaemia | 1.000000e-05 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004682 | QT interval |
| EFO:0008204 | left ventricular diastolic function measurement |
| EFO:0008347 | response to trastuzumab |
| EFO:0010576 | liver fibrosis measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, decreases expression, affects cotreatment | 6 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 3 |
| Vorinostat | increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cocaine | decreases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Triclosan | increases expression | 1 |
| Vanadates | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
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): rhegmatogenous retinal detachment, systemic-onset juvenile idiopathic arthritis