SRFBP1
gene geneOn this page
Also known as FLJ25286p49STRAPBUD22Rlb1
Summary
SRFBP1 (serum response factor binding protein 1, HGNC:26333) is a protein-coding gene on chromosome 5q23.1, encoding Serum response factor-binding protein 1 (Q8NEF9). May be involved in regulating transcriptional activation of cardiac genes during the aging process. It is a selective cancer dependency (DepMap: 86.5% of cell lines).
Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA. Predicted to be located in perinuclear region of cytoplasm. Predicted to be part of 90S preribosome. Predicted to be active in nucleus.
Source: NCBI Gene 153443 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 132 total — 2 pathogenic
- Cancer dependency (DepMap): dependent in 86.5% of screened cell lines
- MANE Select transcript:
NM_152546
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26333 |
| Approved symbol | SRFBP1 |
| Name | serum response factor binding protein 1 |
| Location | 5q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25286, p49, STRAP, BUD22, Rlb1 |
| Ensembl gene | ENSG00000151304 |
| Ensembl biotype | protein_coding |
| OMIM | 610479 |
| Entrez | 153443 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000339397, ENST00000504881, ENST00000919756, ENST00000919757, ENST00000959109
RefSeq mRNA: 1 — MANE Select: NM_152546
NM_152546
CCDS: CCDS43354
Canonical transcript exons
ENST00000339397 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000998845 | 122019260 | 122019341 |
| ENSE00000998847 | 121994599 | 121994670 |
| ENSE00000998849 | 122020088 | 122020802 |
| ENSE00001082203 | 121975315 | 121975387 |
| ENSE00001262053 | 121961975 | 121962068 |
| ENSE00001370027 | 121974196 | 121974284 |
| ENSE00001380332 | 122026942 | 122028633 |
| ENSE00003587835 | 122022370 | 122022407 |
Expression profiles
Bgee: expression breadth ubiquitous, 235 present calls, max score 90.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.0124 / max 531.7029, expressed in 1784 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58189 | 22.9837 | 1783 |
| 58190 | 0.0287 | 12 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 90.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.57 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.61 | gold quality |
| sural nerve | UBERON:0015488 | 83.16 | gold quality |
| cauda epididymis | UBERON:0004360 | 82.41 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.18 | gold quality |
| corpus epididymis | UBERON:0004359 | 81.60 | gold quality |
| caput epididymis | UBERON:0004358 | 81.52 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.95 | gold quality |
| ventricular zone | UBERON:0003053 | 80.41 | gold quality |
| adrenal tissue | UBERON:0018303 | 79.79 | gold quality |
| monocyte | CL:0000576 | 79.65 | gold quality |
| cartilage tissue | UBERON:0002418 | 79.62 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 79.27 | gold quality |
| leukocyte | CL:0000738 | 79.24 | gold quality |
| gastrocnemius | UBERON:0001388 | 78.98 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 78.92 | gold quality |
| muscle of leg | UBERON:0001383 | 78.84 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.60 | gold quality |
| rectum | UBERON:0001052 | 77.56 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 77.29 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.14 | gold quality |
| biceps brachii | UBERON:0001507 | 77.14 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.06 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 77.02 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 76.94 | gold quality |
| cortical plate | UBERON:0005343 | 76.60 | gold quality |
| popliteal artery | UBERON:0002250 | 76.43 | gold quality |
| tibial artery | UBERON:0007610 | 76.42 | gold quality |
| lower lobe of lung | UBERON:0008949 | 76.16 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.67 |
| E-MTAB-6379 | no | 523.68 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting SRFBP1, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 86.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- p49/STRAP may be an important SRF cofactor in the transcriptional regulation of mammalian cardiac muscle genes throughout the life span (PMID:15492011)
- p49/STRAP plays a role in the regulation of intracellular processes such as cardiac cellular metabolism, gene expression, and possibly aging. (PMID:18230186)
- p49/STRAP can be considered a bona fide co-chaperone of Hsp70. (PMID:19751705)
- SRFBP1 is an HCV-specific, pan-genotypic host entry factor. (PMID:26212323)
- P49/STRAP expression was increased in the old versus young adult mouse hearts and also increased with advancing population doubling levels in cultured human umbilical vein endothelial cells. The increased expression of p49/STRAP in late life may alter the status of histone acetylation and impact mitochondrial dynamics and thereby reduce mitochondrial function and cardiac performance during mammalian senescence. (PMID:27337995)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | srfbp1 | ENSDARG00000075323 |
| mus_musculus | Srfbp1 | ENSMUSG00000024528 |
| rattus_norvegicus | Srfbp1 | ENSRNOG00000014808 |
| caenorhabditis_elegans | F18C12.3 | WBGENE00008934 |
Protein
Protein identifiers
Serum response factor-binding protein 1 — Q8NEF9 (reviewed: Q8NEF9)
Alternative names: SRF-dependent transcription regulation-associated protein, p49/STRAP
All UniProt accessions (1): Q8NEF9
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells.
Subunit / interactions. Interacts with SRF. Forms complexes with SRF and SRF cofactors ARID2, MYOCD and NKX2-5. Interacts with the N-terminus of SLC2A4.
Subcellular location. Cytoplasm. Perinuclear region.
Tissue specificity. Abundantly expressed in heart and skeletal muscle, and at much lower levels in brain and lung.
RefSeq proteins (1): NP_689759* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015158 | Bud22_dom | Domain |
| IPR037393 | Bud22/SRFB1 | Family |
Pfam: PF09073
UniProt features (24 total): modified residue 9, compositionally biased region 6, region of interest 2, cross-link 2, coiled-coil region 2, initiator methionine 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NEF9-F1 | 62.20 | 0.23 |
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 (11): 2, 203, 205, 264, 279, 281, 349, 351, 367, 190, 316
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 343 (showing top):
GOBP_DIGESTION, GOBP_RIBOSOME_BIOGENESIS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, PAL_PRMT5_TARGETS_UP, MODULE_151, GOBP_MATURATION_OF_SSU_RRNA, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN
GO Biological Process (1): maturation of SSU-rRNA (GO:0030490)
GO Molecular Function (1): RNA binding (GO:0003723)
GO Cellular Component (4): nucleus (GO:0005634), 90S preribosome (GO:0030686), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| rRNA processing | 1 |
| ribosomal small subunit biogenesis | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2454 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SRFBP1 | SRF | P11831 | 889 |
| SRFBP1 | CD81 | P18582 | 764 |
| SRFBP1 | NKX2-5 | P52952 | 675 |
| SRFBP1 | MYOCD | Q8IZQ8 | 669 |
| SRFBP1 | CCDC201 | A0A1B0GTI1 | 604 |
| SRFBP1 | MYL2 | P10916 | 582 |
| SRFBP1 | CAPN5 | O15484 | 547 |
| SRFBP1 | NPC1L1 | Q9UHC9 | 542 |
| SRFBP1 | ACTC1 | P04270 | 542 |
| SRFBP1 | NPPA | P01160 | 538 |
| SRFBP1 | RBM44 | Q6ZP01 | 520 |
| SRFBP1 | ASB17 | Q8WXJ9 | 508 |
| SRFBP1 | CANX | P27824 | 505 |
| SRFBP1 | SLC2A4 | P14672 | 481 |
| SRFBP1 | NRBP2 | Q9NSY0 | 471 |
IntAct
66 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BYSL | PARN | psi-mi:“MI:0914”(association) | 0.640 |
| SRFBP1 | DDX10 | psi-mi:“MI:0914”(association) | 0.640 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| CD81 | SRFBP1 | psi-mi:“MI:0403”(colocalization) | 0.430 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| SMPD4 | SRFBP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SRFBP1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| SRFBP1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CD81 | HIP1R | psi-mi:“MI:0914”(association) | 0.350 |
| LCOR | psi-mi:“MI:0914”(association) | 0.350 | |
| APP | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| FBL | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ITSN2 | SNRPB2 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGEF19 | NUP42 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP23 | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (87): SRFBP1 (Affinity Capture-MS), SRFBP1 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), FBXW5 (Affinity Capture-MS), SRFBP1 (Affinity Capture-MS), SRFBP1 (Proximity Label-MS), SRFBP1 (Affinity Capture-MS), SRFBP1 (Affinity Capture-MS), FBXW5 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), SRFBP1 (Affinity Capture-RNA), SRFBP1 (Negative Genetic), SRFBP1 (Negative Genetic), SRFBP1 (Negative Genetic), SRFBP1 (Negative Genetic)
ESM2 similar proteins: A5PJN1, O57594, O75683, P0DPK0, P53352, P70279, Q05B65, Q0VCY3, Q17QR4, Q2KIV0, Q2TBX7, Q3KRF3, Q3U155, Q3ZCI6, Q58CQ0, Q5D1Z3, Q5NVE2, Q5R939, Q5RGP9, Q5XIB5, Q5XIG5, Q5ZIH9, Q5ZMG5, Q640V3, Q641W3, Q66H19, Q6NS45, Q6PK04, Q7ZWE7, Q8BG17, Q8BK35, Q8C6C7, Q8CIL4, Q8NDD1, Q8NEF9, Q8R0K4, Q8R2N0, Q8TF30, Q96J88, Q9CR02
Diamond homologs: Q05B65, Q5NVE2, Q5XGC9, Q66H19, Q8NEF9, Q9CZ91
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 73 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 |
|---|---|---|---|
| Major pathway of rRNA processing in the nucleolus and cytosol | 11 | 14.2× | 7e-08 |
| Metabolism of RNA | 8 | 7.0× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 5 | 17.2× | 9e-04 |
| rRNA processing | 6 | 12.9× | 9e-04 |
| RNA splicing | 7 | 9.4× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
132 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 14 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1454248 | NM_002317.7(LOX):c.1056T>G (p.Tyr352Ter) | Pathogenic |
| 2706915 | NM_002317.7(LOX):c.198dup (p.Gln67fs) | Pathogenic |
SpliceAI
1751 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:121962066:GAG:G | donor_gain | 1.0000 |
| 5:121962067:AGGTG:A | donor_loss | 1.0000 |
| 5:121962069:GTGAG:G | donor_loss | 1.0000 |
| 5:121962070:T:A | donor_loss | 1.0000 |
| 5:121974191:CAAAG:C | acceptor_loss | 1.0000 |
| 5:121974194:A:AG | acceptor_gain | 1.0000 |
| 5:121974195:G:GA | acceptor_loss | 1.0000 |
| 5:121974195:G:GG | acceptor_gain | 1.0000 |
| 5:121974285:G:GG | donor_gain | 1.0000 |
| 5:121974286:T:G | donor_gain | 1.0000 |
| 5:121974299:G:GG | donor_gain | 1.0000 |
| 5:121975309:TTGCA:T | acceptor_loss | 1.0000 |
| 5:121975310:TGCA:T | acceptor_loss | 1.0000 |
| 5:121975311:GCA:G | acceptor_loss | 1.0000 |
| 5:121975312:CA:C | acceptor_loss | 1.0000 |
| 5:121975313:A:AG | acceptor_gain | 1.0000 |
| 5:121975313:A:C | acceptor_loss | 1.0000 |
| 5:121975313:AG:A | acceptor_gain | 1.0000 |
| 5:121975313:AGG:A | acceptor_gain | 1.0000 |
| 5:121975313:AGGG:A | acceptor_gain | 1.0000 |
| 5:121975314:G:GA | acceptor_gain | 1.0000 |
| 5:121975314:GG:G | acceptor_gain | 1.0000 |
| 5:121975314:GGG:G | acceptor_gain | 1.0000 |
| 5:121975314:GGGG:G | acceptor_gain | 1.0000 |
| 5:121975314:GGGGT:G | acceptor_gain | 1.0000 |
| 5:121975384:GAAG:G | donor_gain | 1.0000 |
| 5:121975385:AAGG:A | donor_loss | 1.0000 |
| 5:121975386:AGGT:A | donor_loss | 1.0000 |
| 5:121975388:G:GG | donor_gain | 1.0000 |
| 5:121975388:G:T | donor_loss | 1.0000 |
AlphaMissense
2835 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:122027115:T:C | F427L | 0.997 |
| 5:122027117:T:A | F427L | 0.997 |
| 5:122027117:T:G | F427L | 0.997 |
| 5:122027048:G:C | W404C | 0.996 |
| 5:122027048:G:T | W404C | 0.996 |
| 5:122027046:T:A | W404R | 0.992 |
| 5:122027046:T:C | W404R | 0.992 |
| 5:122027039:T:A | H401Q | 0.991 |
| 5:122027039:T:G | H401Q | 0.991 |
| 5:122027094:T:C | F420L | 0.991 |
| 5:122027096:T:A | F420L | 0.991 |
| 5:122027096:T:G | F420L | 0.991 |
| 5:121974210:A:C | R17S | 0.990 |
| 5:121974210:A:T | R17S | 0.990 |
| 5:122027116:T:G | F427C | 0.989 |
| 5:121974230:G:C | R24P | 0.987 |
| 5:121974245:G:C | R29P | 0.987 |
| 5:122027037:C:G | H401D | 0.986 |
| 5:121974209:G:C | R17T | 0.985 |
| 5:122027116:T:C | F427S | 0.985 |
| 5:121974251:T:C | L31P | 0.984 |
| 5:122020525:A:C | S264R | 0.983 |
| 5:122020527:C:A | S264R | 0.983 |
| 5:122020527:C:G | S264R | 0.983 |
| 5:122027038:A:G | H401R | 0.983 |
| 5:121975350:G:C | R54P | 0.982 |
| 5:122019284:G:C | A99P | 0.982 |
| 5:121975379:G:C | A64P | 0.981 |
| 5:121975387:G:C | K66N | 0.981 |
| 5:121975387:G:T | K66N | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000006036 (5:122013043 T>C), RS1000011531 (5:122049480 T>C,G), RS1000019257 (5:122057961 T>C), RS1000032176 (5:122035556 C>G), RS1000032200 (5:122013256 C>A), RS1000070629 (5:121976684 A>G), RS1000104710 (5:122005457 A>G), RS1000121769 (5:122054847 C>T), RS1000130449 (5:122052278 T>C), RS1000137741 (5:121981515 C>A), RS1000154204 (5:122079164 A>T), RS1000226773 (5:121981772 AG>A), RS1000293916 (5:122021132 A>G), RS1000341950 (5:122023934 G>A,C), RS1000356773 (5:121987114 T>A)
Disease associations
OMIM: gene MIM:610479 | disease phenotypes: MIM:617168, MIM:607086
GenCC curated gene-disease
Mondo (3): aortic aneurysm, familial thoracic 10 (MONDO:0014950), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), pulmonary emphysema (MONDO:0004849)
Orphanet (1): Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005196_86 | Coronary artery disease | 4.000000e-08 |
| GCST007096_124 | Pulse pressure | 9.000000e-09 |
| GCST007097_81 | Pulse pressure | 4.000000e-06 |
| GCST007097_82 | Pulse pressure | 4.000000e-06 |
| GCST007099_167 | Systolic blood pressure | 2.000000e-06 |
| GCST011365_127 | Myocardial infarction | 1.000000e-06 |
| GCST012226_58 | Waist circumference adjusted for body mass index | 3.000000e-09 |
| GCST012226_59 | Waist circumference adjusted for body mass index | 2.000000e-08 |
| GCST90013442_7 | Keratoconus | 2.000000e-20 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D004646 | Emphysema | C23.550.325 |
| D011656 | Pulmonary Emphysema | C08.381.495.389.750; C23.550.291.500.875.875 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects binding, increases reaction, increases abundance, increases expression | 2 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| abrine | decreases expression, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Phenobarbital | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| T-2 Toxin | increases expression | 1 |
| Thiram | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
Clinical trials (associated diseases)
286 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00175565 | PHASE4 | COMPLETED | Inhaled Steroid Reduces Systemic Inflammation in COPD |
| NCT00181207 | PHASE4 | COMPLETED | Airway Clearance for Prevention of Chronic Obstructive Pulmonary Disease (COPD) Exacerbation |
| NCT00261833 | PHASE4 | COMPLETED | Zemaira in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor Deficiency |
| NCT00424528 | PHASE4 | COMPLETED | Efficacy Safety Study of Arformoterol/Tiotropium Combination Versus Either Therapy Alone in Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00633776 | PHASE4 | WITHDRAWN | Perforomist Versus Foradil Evaluated by Inspiratory Capacity and High Resolution Computed Tomography (HRCT) |
| NCT00670007 | PHASE4 | COMPLETED | Extension Study of Zemaira® i.v. Administration in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency. |
| NCT00680056 | PHASE4 | COMPLETED | Add-on Effects of Tiotropium Over Formoterol in Exercise Tolerance on Chronic Obstructive Pulmonary Disease Patients |
| NCT00680641 | PHASE4 | UNKNOWN | Simvastatin in Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00720226 | PHASE4 | COMPLETED | Efficacy of Losartan in Preventing Progression of COPD |
| NCT00730301 | PHASE4 | UNKNOWN | EUROPT Clinical Trial to Study the Efficacy of One-Way Valve Implantation (New Treatment Algorithm) in Patients With Heterogeneous Emphysema |
| NCT00857038 | PHASE4 | UNKNOWN | Doxycycline and Airway Inflammation in Chronic Obstructive Pulmonary Disease (COPD) |
| NCT01336283 | PHASE4 | COMPLETED | Effectiveness of Different Exercise Training Programs to the Profile of COPD Patients |
| NCT01361984 | PHASE4 | UNKNOWN | Sunovion Brovana Versus Serevent Inspiratory Capacity High Resolution Computed Tomography |
| NCT01431625 | PHASE4 | UNKNOWN | Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Obstructive Chronic Pulmonary Disease (COPD) Phenotype |
| NCT01460108 | PHASE4 | UNKNOWN | AeriSeal System in Patients With Advanced Upper Lobe Predominant Emphysema and Collateral Ventilation |
| NCT01466712 | PHASE4 | UNKNOWN | Evaluate the Effects of Formoterol and Beclomethasone Dipropionate Combination Therapy on Small Airways Function |
| NCT01520740 | PHASE4 | TERMINATED | Collateral Ventilation Effects on Response to AeriSeal System Treatment in Upper Lobe Predominant Emphysema |
| NCT02682147 | PHASE4 | ACTIVE_NOT_RECRUITING | Functional CT Assessment of Pulmonary Arterial Dysfunction in Smoking Associated Emphysema |
| NCT02696564 | PHASE4 | COMPLETED | Losartan Effects on Emphysema Progression |
| NCT03073798 | PHASE4 | COMPLETED | The Effectiveness of Roflumilast in Improving Mucociliary Clearance in Patients With COPD and Chronic Bronchitis |
| NCT03382106 | PHASE4 | COMPLETED | Smoking Cessation and Functional CT Assessment |
| NCT03733470 | PHASE4 | COMPLETED | Hypoxic Pulmonary Vasoconstriction Pilot Study |
| NCT07326592 | PHASE4 | NOT_YET_RECRUITING | Phase 4, Double-blind Study Evaluating the Response on Computed Tomography (CT) Lung Density Decline Rates of Respreeza / Zemaira Weekly for 3 Years in Adults With alpha1 Antitrypsin Deficiency (AATD) |
| NCT00000606 | PHASE3 | COMPLETED | National Emphysema Treatment Trial (NETT) |
| NCT00064402 | PHASE3 | COMPLETED | Determine the Safety and Efficacy of (R,R)-Formoterol in the Treatment of Subjects With COPD |
| NCT00064415 | PHASE3 | COMPLETED | To Evaluate the Long-term Safety of (R,R)-Formoterol in Subjects With COPD |
| NCT00129584 | PHASE3 | COMPLETED | Endobronchial Valve for Emphysema Palliation Trial (VENT) |
| NCT00137956 | PHASE3 | TERMINATED | Endobronchial Valve for Emphysema PalliatioN Trial (VENT) Cost-effectiveness Sub-Study |
| NCT00188825 | PHASE3 | COMPLETED | Study Comparing Simulect Plus Standard Immunosuppression to Standard Immunosuppression Alone for the Prevention of Acute Rejection and Bronchiolitis Obliterans in Lung Transplant |
| NCT00250679 | PHASE3 | COMPLETED | Safety and Efficacy of Arformoterol Tartrate Inhalation Solution in Subjects With Chronic Obstructive Pulmonary Disease |
| NCT00288964 | PHASE3 | WITHDRAWN | Use of the Hattler Respiratory Assist Catheter in Severe Respiratory Failure |
| NCT00391612 | PHASE3 | UNKNOWN | EASE Trial: Exhale Airway Stents for Emphysema |
| NCT00613860 | PHASE3 | WITHDRAWN | Sequential Endoscopic Lung Volume Reduction |
| NCT01449292 | PHASE3 | TERMINATED | Study of the AeriSeal System for HyPerInflation Reduction in Emphysema (ASPIRE) |
| NCT01602523 | PHASE3 | UNKNOWN | Effect of Symbicort on Sleep Quality in Patients With Emphysema |
| NCT01822795 | PHASE3 | UNKNOWN | Lung Volume Reduction Coil Treatment in Emphysema. |
| NCT01869205 | PHASE3 | COMPLETED | The Effect and Mechanism of Bronchoscopic Lung Volume Reduction by Endobronchial Valve in Korean Emphysema Patients |
| NCT01908933 | PHASE3 | WITHDRAWN | Study of the AeriSeal System Treatment in Patients With Advanced Non-Upper Lobe Predominant Heterogeneous Emphysema |
| NCT02261350 | PHASE3 | TERMINATED | Post-hospitalisation Nutritional Support and Gait Speed in COPD |
| NCT00000573 | PHASE2 | COMPLETED | Emphysema: Physiologic Effects of Nutritional Support |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aortic aneurysm, familial thoracic 10, familial thoracic aortic aneurysm and aortic dissection, keratoconus, pulmonary emphysema