SERTAD2
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Also known as TRIP-Br2KIAA0127Sei-2
Summary
SERTAD2 (SERTA domain containing 2, HGNC:30784) is a protein-coding gene on chromosome 2p14, encoding SERTA domain-containing protein 2 (Q14140). Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors.
Predicted to enable transcription coactivator activity. Acts upstream of or within negative regulation of cell growth. Located in cytosol and nucleoplasm.
Source: NCBI Gene 9792 — RefSeq curated summary.
At a glance
- GWAS associations: 38
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_014755
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30784 |
| Approved symbol | SERTAD2 |
| Name | SERTA domain containing 2 |
| Location | 2p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRIP-Br2, KIAA0127, Sei-2 |
| Ensembl gene | ENSG00000179833 |
| Ensembl biotype | protein_coding |
| OMIM | 617851 |
| Entrez | 9792 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000313349, ENST00000476805, ENST00000608423, ENST00000859819, ENST00000923255, ENST00000958074
RefSeq mRNA: 1 — MANE Select: NM_014755
NM_014755
CCDS: CCDS33210
Canonical transcript exons
ENST00000313349 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001251280 | 64631621 | 64636875 |
| ENSE00001406689 | 64653620 | 64653913 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 98.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.3644 / max 470.3487, expressed in 1814 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 28766 | 25.8684 | 1801 |
| 28774 | 6.7208 | 1595 |
| 28765 | 4.5252 | 1502 |
| 28773 | 0.7807 | 559 |
| 28775 | 0.5379 | 294 |
| 28772 | 0.4870 | 264 |
| 28776 | 0.2495 | 119 |
| 28767 | 0.1949 | 86 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cartilage tissue | UBERON:0002418 | 98.46 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.76 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.62 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.84 | gold quality |
| squamous epithelium | UBERON:0006914 | 95.73 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.65 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 95.21 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 95.15 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.39 | gold quality |
| skin of hip | UBERON:0001554 | 94.17 | gold quality |
| mammalian vulva | UBERON:0000997 | 94.13 | gold quality |
| gingiva | UBERON:0001828 | 93.97 | gold quality |
| tibia | UBERON:0000979 | 93.87 | gold quality |
| upper leg skin | UBERON:0004262 | 93.86 | gold quality |
| bone element | UBERON:0001474 | 93.83 | gold quality |
| penis | UBERON:0000989 | 93.17 | gold quality |
| bone marrow | UBERON:0002371 | 92.92 | gold quality |
| oral cavity | UBERON:0000167 | 92.70 | gold quality |
| thymus | UBERON:0002370 | 92.54 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.39 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 92.06 | gold quality |
| synovial joint | UBERON:0002217 | 92.05 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.77 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.59 | gold quality |
| nasopharynx | UBERON:0001728 | 91.57 | gold quality |
| hair follicle | UBERON:0002073 | 91.57 | gold quality |
| visceral pleura | UBERON:0002401 | 91.56 | gold quality |
| sperm | CL:0000019 | 91.22 | gold quality |
| parotid gland | UBERON:0001831 | 91.02 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.83 |
| E-MTAB-9801 | yes | 7.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
328 targeting SERTAD2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
Literature-anchored findings (GeneRIF, showing 4)
- CRM1-mediated nuclear export may be required for the proper execution of ubiquitin-proteasome-dependent degradation of TRIP-Br2 (PMID:18316374)
- TRIP-Br2 is frequently overexpressed in both cancer cell lines and multiple human tumors. (PMID:19152710)
- TRIP-Br2, modulates fat storage through simultaneous regulation of lipolysis, thermogenesis and oxidative metabolism. (PMID:23291629)
- REV1 promotes lung tumorigenesis by activating the Rad18/SERTAD2 axis. (PMID:35115490)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sertad2b | ENSDARG00000055530 |
| mus_musculus | Sertad2 | ENSMUSG00000049800 |
| rattus_norvegicus | Sertad2 | ENSRNOG00000005393 |
| drosophila_melanogaster | tara | FBGN0040071 |
Paralogs (1): CDCA4 (ENSG00000170779)
Protein
Protein identifiers
SERTA domain-containing protein 2 — Q14140 (reviewed: Q14140)
Alternative names: Transcriptional regulator interacting with the PHD-bromodomain 2
All UniProt accessions (1): Q14140
UniProt curated annotations — full annotation on UniProt →
Function. Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. May act as coactivator as well as corepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2F consensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulating the expression of key genes involved in adipocyte lipolysis, thermogenesis and oxidative metabolism.
Subunit / interactions. Interacts with XPO1; which mediates nuclear export. Interacts with TFDP1; modulates transactivation activity of TFDP1/E2F complexes.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in adipose tissue.
Post-translational modifications. Polyubiquitinated, which promotes proteasomal degradation.
RefSeq proteins (1): NP_055570* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009263 | SERTA_dom | Domain |
| IPR052262 | E2F-SERTA_domain_protein | Family |
Pfam: PF06031
UniProt features (12 total): mutagenesis site 3, region of interest 3, compositionally biased region 3, chain 1, domain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14140-F1 | 60.95 | 0.13 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 241 | slight resistance to proteasomal degradation, no effect on the interaction with xpo1 neither on nuclear export. |
| 243 | slight decrease of interaction with xpo1 and resistance to proteasomal degradation, no effect on nuclear export. |
| 238 | abolishes the interaction with xpo1 as well as the nuclear export and the subsequent proteasomal degradation. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 312 (showing top):
TGCACTT_MIR519C_MIR519B_MIR519A, chr2p14, TTTGTAG_MIR520D, ATACCTC_MIR202, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, AAGCCAT_MIR135A_MIR135B, GEORGES_CELL_CYCLE_MIR192_TARGETS, GOBP_GROWTH, IVANOVA_HEMATOPOIESIS_MATURE_CELL, TATTATA_MIR374, GENTILE_RESPONSE_CLUSTER_D3, CTATGCA_MIR153, GTGCCTT_MIR506, BLALOCK_ALZHEIMERS_DISEASE_UP, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP
GO Biological Process (2): negative regulation of cell growth (GO:0030308), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| negative regulation of growth | 1 |
| negative regulation of cellular process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
568 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SERTAD2 | SERTAD3 | Q9UJW9 | 629 |
| SERTAD2 | SERTAD1 | Q9UHV2 | 573 |
| SERTAD2 | SERTAD4 | Q9NUC0 | 549 |
| SERTAD2 | E2F1 | Q01094 | 525 |
| SERTAD2 | XPO1 | O14980 | 472 |
| SERTAD2 | CDK4 | P11802 | 451 |
| SERTAD2 | HRCT1 | Q6UXD1 | 447 |
| SERTAD2 | C15orf40 | Q8WUR7 | 433 |
| SERTAD2 | KLF15 | Q9UIH9 | 424 |
| SERTAD2 | PROSER2 | Q86WR7 | 415 |
| SERTAD2 | CDC42EP4 | Q9H3Q1 | 411 |
| SERTAD2 | AFTPH | Q6ULP2 | 406 |
| SERTAD2 | CEP68 | Q76N32 | 371 |
| SERTAD2 | FAM81A | Q8TBF8 | 359 |
| SERTAD2 | WDPCP | O95876 | 357 |
IntAct
67 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R2D | YEATS4 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2R2B | MYO9A | psi-mi:“MI:0914”(association) | 0.640 |
| SERTAD2 | ZNF524 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | HELLS | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | PARVG | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | IGFN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLA2G6 | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | TNS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | STRA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKAB2 | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | PIK3R3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | ESPNL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZSCAN22 | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATG12 | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CKS1B | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC7 | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | CTNNA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | ZNF581 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | KAT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | AIRIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD2 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.530 |
| PPP2R1A | ENSA | psi-mi:“MI:0914”(association) | 0.530 |
| PPP2R2B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| SERTAD2 | PPP2R1B | psi-mi:“MI:0914”(association) | 0.350 |
| HAPLN3 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2B | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2C | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2D | MAST4 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF524 | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (44): SERTAD2 (Affinity Capture-RNA), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid), SERTAD2 (Two-hybrid)
ESM2 similar proteins: A1YF19, A2T767, B0K035, F1RCE7, F7BHS0, O95997, P0DPK0, P23999, P97613, Q08B36, Q08BD8, Q09HN1, Q0VA20, Q14140, Q2KHM9, Q2QD14, Q2QD15, Q2T9X8, Q2WG80, Q3SZY3, Q3UHI0, Q3V1H1, Q5R7F8, Q5RBY6, Q5RKG1, Q5XG16, Q5ZJU5, Q6A000, Q6AYH4, Q6DF94, Q7SXC6, Q8BHE0, Q8BHZ5, Q8C804, Q8N0Z3, Q8QGU6, Q8R080, Q8WWK9, Q96C57, Q96FF9
Diamond homologs: Q14140, Q9BXL8, Q9JJG5, Q9JL10, Q9UHV2, Q9CWM2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 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 |
|---|---|---|---|
| Cell Cycle | 5 | 10.0× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
395 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:64636871:TATAT:T | acceptor_gain | 1.0000 |
| 2:64636872:ATAT:A | acceptor_gain | 1.0000 |
| 2:64636873:TAT:T | acceptor_gain | 1.0000 |
| 2:64636874:AT:A | acceptor_gain | 1.0000 |
| 2:64636875:TCTGC:T | acceptor_loss | 1.0000 |
| 2:64636876:C:CC | acceptor_gain | 1.0000 |
| 2:64636877:T:A | acceptor_loss | 1.0000 |
| 2:64653615:CTTA:C | donor_loss | 1.0000 |
| 2:64653616:TTA:T | donor_loss | 1.0000 |
| 2:64653617:TA:T | donor_loss | 1.0000 |
| 2:64653618:A:AC | donor_gain | 1.0000 |
| 2:64653618:A:T | donor_loss | 1.0000 |
| 2:64653619:C:CC | donor_gain | 1.0000 |
| 2:64653619:CCA:C | donor_gain | 1.0000 |
| 2:64636879:C:CT | acceptor_gain | 0.9900 |
| 2:64653618:AC:A | donor_gain | 0.9900 |
| 2:64653619:CC:C | donor_gain | 0.9900 |
| 2:64653619:CCACA:C | donor_gain | 0.9900 |
| 2:64636880:A:T | acceptor_gain | 0.9800 |
| 2:64653616:TTAC:T | donor_gain | 0.9800 |
| 2:64653617:TACC:T | donor_gain | 0.9800 |
| 2:64653618:ACCA:A | donor_gain | 0.9800 |
| 2:64653619:CCAC:C | donor_gain | 0.9800 |
| 2:64653683:C:CA | donor_gain | 0.9700 |
| 2:64636874:ATCT:A | acceptor_gain | 0.9600 |
| 2:64639526:ATTG:A | donor_gain | 0.9600 |
| 2:64636873:TATC:T | acceptor_gain | 0.9500 |
| 2:64636875:TCTG:T | acceptor_gain | 0.9500 |
| 2:64636876:CTGC:C | acceptor_gain | 0.9500 |
| 2:64653631:C:CT | donor_gain | 0.9500 |
AlphaMissense
2060 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:64635940:A:G | L311P | 1.000 |
| 2:64635940:A:T | L311H | 1.000 |
| 2:64635952:A:T | I307N | 1.000 |
| 2:64635961:A:G | L304P | 1.000 |
| 2:64635961:A:T | L304Q | 1.000 |
| 2:64636684:A:T | V63D | 1.000 |
| 2:64636738:A:G | L45P | 1.000 |
| 2:64636762:C:G | R37P | 1.000 |
| 2:64636763:G:T | R37S | 1.000 |
| 2:64635935:C:A | G313W | 0.999 |
| 2:64635940:A:C | L311R | 0.999 |
| 2:64635948:C:A | M308I | 0.999 |
| 2:64635948:C:G | M308I | 0.999 |
| 2:64635948:C:T | M308I | 0.999 |
| 2:64635949:A:C | M308R | 0.999 |
| 2:64635949:A:T | M308K | 0.999 |
| 2:64635952:A:C | I307S | 0.999 |
| 2:64635952:A:G | I307T | 0.999 |
| 2:64635958:T:A | D305V | 0.999 |
| 2:64635961:A:C | L304R | 0.999 |
| 2:64636117:T:A | D252V | 0.999 |
| 2:64636117:T:C | D252G | 0.999 |
| 2:64636117:T:G | D252A | 0.999 |
| 2:64636118:C:G | D252H | 0.999 |
| 2:64636120:A:C | I251S | 0.999 |
| 2:64636120:A:T | I251N | 0.999 |
| 2:64636123:T:A | D250V | 0.999 |
| 2:64636124:C:G | D250H | 0.999 |
| 2:64636128:A:C | F248L | 0.999 |
| 2:64636128:A:T | F248L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000051080 (2:64654064 GCCGGCCGCGGCCGC>G), RS1000203789 (2:64651789 G>A), RS1000463924 (2:64639134 A>G), RS1000487416 (2:64643702 A>G), RS1000595582 (2:64653677 G>A,C), RS1000653750 (2:64646260 C>T), RS1000665508 (2:64652106 T>C), RS1000818398 (2:64655315 C>G), RS1000898844 (2:64632464 G>A), RS1000946412 (2:64653476 C>T), RS1001006285 (2:64634613 G>A,C), RS1001048152 (2:64650092 GT>G), RS1001209253 (2:64640396 T>A,C), RS1001532288 (2:64645182 C>T), RS1001583066 (2:64645395 A>G)
Disease associations
OMIM: gene MIM:617851 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
38 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001525_10 | Visceral fat | 5.000000e-06 |
| GCST004602_87 | Mean corpuscular volume | 5.000000e-11 |
| GCST004609_139 | Monocyte percentage of white cells | 9.000000e-10 |
| GCST004621_51 | Red cell distribution width | 3.000000e-18 |
| GCST004630_28 | Mean corpuscular hemoglobin | 3.000000e-13 |
| GCST006011_95 | Mean corpuscular volume | 3.000000e-08 |
| GCST006192_40 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 7.000000e-09 |
| GCST006804_45 | Red cell distribution width | 7.000000e-13 |
| GCST006979_6 | Heel bone mineral density | 3.000000e-12 |
| GCST009312_3 | Antisaccade task score | 1.000000e-07 |
| GCST010204_167 | Low density lipoprotein cholesterol levels | 8.000000e-09 |
| GCST010243_246 | Apolipoprotein B levels | 9.000000e-10 |
| GCST010245_21 | LDL cholesterol levels | 3.000000e-09 |
| GCST010346_35 | TPE interval (resting) | 8.000000e-12 |
| GCST010346_57 | TPE interval (resting) | 2.000000e-08 |
| GCST010796_694 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_695 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_696 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-08 |
| GCST010796_697 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST012490_195 | Femur bone mineral density x serum urate levels interaction | 9.000000e-10 |
| GCST012490_325 | Femur bone mineral density x serum urate levels interaction | 2.000000e-09 |
| GCST90002390_361 | Mean corpuscular hemoglobin | 2.000000e-15 |
| GCST90002390_362 | Mean corpuscular hemoglobin | 1.000000e-16 |
| GCST90002392_202 | Mean corpuscular volume | 1.000000e-12 |
| GCST90002392_203 | Mean corpuscular volume | 2.000000e-13 |
| GCST90002393_189 | Monocyte count | 2.000000e-11 |
| GCST90002394_119 | Monocyte percentage of white cells | 2.000000e-18 |
| GCST90002396_211 | Mean reticulocyte volume | 6.000000e-11 |
| GCST90002397_803 | Mean spheric corpuscular volume | 4.000000e-15 |
| GCST90002397_804 | Mean spheric corpuscular volume | 1.000000e-09 |
EFO canonical traits (19, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0009188 | Red cell distribution width |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0006335 | systolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0007969 | cognitive inhibition measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004644 | TPE interval measurement |
| EFO:0004327 | electrocardiography |
| EFO:0004531 | urate measurement |
| EFO:0005091 | monocyte count |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007985 | platelet crit |
| EFO:0004305 | erythrocyte count |
| EFO:0007986 | reticulocyte count |
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression | 6 |
| Tetrachlorodibenzodioxin | affects expression, affects cotreatment, increases expression | 6 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 2 |
| cobaltous chloride | increases expression, decreases reaction | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Cisplatin | increases expression, decreases expression, affects cotreatment | 2 |
| Estradiol | increases expression, affects cotreatment, decreases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression, decreases methylation | 2 |
| Aflatoxin B1 | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| zinc chloride | decreases reaction, increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | 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): hemorrhoid