FNBP4
gene geneOn this page
Also known as KIAA1014
Summary
FNBP4 (formin binding protein 4, HGNC:19752) is a protein-coding gene on chromosome 11p11.2, encoding Formin-binding protein 4 (Q8N3X1). It is a selective cancer dependency (DepMap: 60.3% of cell lines).
This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome.
Source: NCBI Gene 23360 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 153 total
- Cancer dependency (DepMap): dependent in 60.3% of screened cell lines
- MANE Select transcript:
NM_015308
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19752 |
| Approved symbol | FNBP4 |
| Name | formin binding protein 4 |
| Location | 11p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1014 |
| Ensembl gene | ENSG00000109920 |
| Ensembl biotype | protein_coding |
| OMIM | 615265 |
| Entrez | 23360 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 11 protein_coding_CDS_not_defined, 5 protein_coding, 3 retained_intron
ENST00000263773, ENST00000524696, ENST00000525316, ENST00000525792, ENST00000526109, ENST00000527894, ENST00000528388, ENST00000529156, ENST00000530207, ENST00000531394, ENST00000532646, ENST00000533707, ENST00000534003, ENST00000540172, ENST00000542975, ENST00000544590, ENST00000883715, ENST00000917808, ENST00000961496
RefSeq mRNA: 2 — MANE Select: NM_015308
NM_001318339, NM_015308
CCDS: CCDS41644
Canonical transcript exons
ENST00000263773 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000839356 | 47724468 | 47724778 |
| ENSE00002182692 | 47716494 | 47717512 |
| ENSE00002266360 | 47767069 | 47767341 |
| ENSE00003467965 | 47722976 | 47723316 |
| ENSE00003481122 | 47719929 | 47720086 |
| ENSE00003492569 | 47754528 | 47754664 |
| ENSE00003535697 | 47731374 | 47731561 |
| ENSE00003538299 | 47724028 | 47724172 |
| ENSE00003555480 | 47743953 | 47744163 |
| ENSE00003561014 | 47765270 | 47765362 |
| ENSE00003566860 | 47732537 | 47732670 |
| ENSE00003570308 | 47751143 | 47751290 |
| ENSE00003572507 | 47750916 | 47751036 |
| ENSE00003591368 | 47752916 | 47753102 |
| ENSE00003622600 | 47746056 | 47746394 |
| ENSE00003653923 | 47736616 | 47736740 |
| ENSE00003665313 | 47734025 | 47734129 |
Expression profiles
Bgee: expression breadth ubiquitous, 207 present calls, max score 98.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.9597 / max 898.3696, expressed in 1826 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119669 | 48.9848 | 1826 |
| 119668 | 4.3530 | 1624 |
| 119673 | 1.0772 | 463 |
| 119670 | 0.9878 | 484 |
| 119671 | 0.7607 | 376 |
| 119672 | 0.5594 | 266 |
| 119674 | 0.2368 | 95 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 98.37 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.34 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.33 | gold quality |
| left ovary | UBERON:0002119 | 98.27 | gold quality |
| body of uterus | UBERON:0009853 | 98.22 | gold quality |
| right ovary | UBERON:0002118 | 98.21 | gold quality |
| endocervix | UBERON:0000458 | 98.18 | gold quality |
| body of pancreas | UBERON:0001150 | 98.15 | gold quality |
| right uterine tube | UBERON:0001302 | 98.11 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.01 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.96 | gold quality |
| nerve | UBERON:0001021 | 97.94 | gold quality |
| tibial nerve | UBERON:0001323 | 97.94 | gold quality |
| skin of leg | UBERON:0001511 | 97.83 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.76 | gold quality |
| ectocervix | UBERON:0012249 | 97.74 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.67 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.66 | gold quality |
| left uterine tube | UBERON:0001303 | 97.58 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.54 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.54 | gold quality |
| ventricular zone | UBERON:0003053 | 97.50 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.50 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.47 | gold quality |
| granulocyte | CL:0000094 | 97.41 | gold quality |
| right lung | UBERON:0002167 | 97.40 | gold quality |
| rectum | UBERON:0001052 | 97.34 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.18 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.18 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.95 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
121 targeting FNBP4, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 60.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- A c.683C>T (p.Thr228Met) mutation in FNBP4 was found as a primary candidate to microphthalmia with limb anomalies (PMID:23703728)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fnbp4 | ENSDARG00000051800 |
| mus_musculus | Fnbp4 | ENSMUSG00000008200 |
| rattus_norvegicus | Fnbp4 | ENSRNOG00000007241 |
| drosophila_melanogaster | Frl | FBGN0267795 |
| caenorhabditis_elegans | WBGENE00018976 | |
| caenorhabditis_elegans | WBGENE00019030 | |
| caenorhabditis_elegans | sydn-1 | WBGENE00021473 |
| caenorhabditis_elegans | WBGENE00021698 |
Paralogs (18): DAAM1 (ENSG00000100592), DIAPH1 (ENSG00000131504), FHOD3 (ENSG00000134775), FHOD1 (ENSG00000135723), FHDC1 (ENSG00000137460), DIAPH3 (ENSG00000139734), DAAM2 (ENSG00000146122), DIAPH2 (ENSG00000147202), FMN2 (ENSG00000155816), FMNL2 (ENSG00000157827), FMNL3 (ENSG00000161791), FMNL1 (ENSG00000184922), FAM47A (ENSG00000185448), SHTN1 (ENSG00000187164), FAM47B (ENSG00000189132), FAM47C (ENSG00000198173), INF2 (ENSG00000203485), GRID2IP (ENSG00000215045)
Protein
Protein identifiers
Formin-binding protein 4 — Q8N3X1 (reviewed: Q8N3X1)
Alternative names: Formin-binding protein 30
All UniProt accessions (2): Q8N3X1, F5GXL1
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Binds FMN1. Interacts with the Arg/Gly-rich-flanked Pro-rich of KHDRBS1/SAM68. Arginine methylation in these regions has no effect on this binding.
Tissue specificity. Highly expressed in the eye.
Domain organisation. These WW domains interact with Arg/Gly-rich-flanked Pro-rich domains found in several WW domain-binding proteins (WBPs). The N-terminal WW domain has the greater ligand-binding ability.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N3X1-1 | 1 | yes |
| Q8N3X1-2 | 2 |
RefSeq proteins (2): NP_001305268, NP_056123* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001202 | WW_dom | Domain |
| IPR036020 | WW_dom_sf | Homologous_superfamily |
| IPR053076 | WW_domain_protein | Family |
Pfam: PF00397
UniProt features (56 total): modified residue 19, compositionally biased region 17, region of interest 6, cross-link 6, sequence variant 3, domain 2, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N3X1-F1 | 56.84 | 0.15 |
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 (25): 18, 116, 124, 172, 290, 427, 432, 435, 438, 442, 464, 479, 499, 508, 516, 517, 963, 964, 965, 301 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 209 (showing top):
MODULE_255, BROWNE_HCMV_INFECTION_8HR_UP, MODULE_317, ONKEN_UVEAL_MELANOMA_UP, FOSTER_TOLERANT_MACROPHAGE_UP, FISCHER_G2_M_CELL_CYCLE, OCT1_03, FISCHER_DREAM_TARGETS, BILBAN_B_CLL_LPL_DN, DELASERNA_MYOD_TARGETS_DN, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_UP, CHANDRAN_METASTASIS_UP, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, MODULE_69, CHEN_HOXA5_TARGETS_9HR_UP
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1719 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FNBP4 | WBP4 | O75554 | 687 |
| FNBP4 | GRID2IP | A4D2P6 | 630 |
| FNBP4 | FMNL3 | Q8IVF7 | 604 |
| FNBP4 | FMN1 | Q68DA7 | 595 |
| FNBP4 | DAAM2 | Q86T65 | 594 |
| FNBP4 | FMNL1 | O95466 | 590 |
| FNBP4 | DIAPH2 | O60879 | 579 |
| FNBP4 | FMNL2 | Q96PY5 | 575 |
| FNBP4 | LENG8 | Q96PV6 | 551 |
| FNBP4 | NUP160 | Q12769 | 543 |
| FNBP4 | DAAM1 | Q9Y4D1 | 543 |
| FNBP4 | DIAPH1 | O60610 | 534 |
| FNBP4 | PFN4 | Q8NHR9 | 529 |
| FNBP4 | PFN3 | P60673 | 526 |
| FNBP4 | FHOD1 | Q9Y613 | 524 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FNBP4 | PRPF40A | psi-mi:“MI:0914”(association) | 0.550 |
| FNBP4 | PRPF40A | psi-mi:“MI:0915”(physical association) | 0.550 |
| KHDRBS1 | FNBP4 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| KHDRBS1 | FNBP4 | psi-mi:“MI:0915”(physical association) | 0.540 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H18 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H18 | SRPK2 | psi-mi:“MI:0914”(association) | 0.530 |
| FNBP4 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSCB | FNBP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PLXNA2 | FNBP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HTT | FNBP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FNBP4 | HTT | psi-mi:“MI:0915”(physical association) | 0.370 |
| Psmb4 | PSMD14 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| CEP135 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| RBM39 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| hspa1a_hspa1b_human-1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| BAG1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| FGF12 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP12 | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| TGM1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA2 | HGS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (99): FNBP4 (Affinity Capture-RNA), FNBP4 (Affinity Capture-RNA), FNBP4 (Proximity Label-MS), FNBP4 (Affinity Capture-MS), FNBP4 (Affinity Capture-MS), FNBP4 (Affinity Capture-MS), FNBP4 (Affinity Capture-RNA), FNBP4 (Affinity Capture-RNA), FNBP4 (Affinity Capture-MS), FNBP4 (Affinity Capture-MS), FNBP4 (Affinity Capture-MS), FNBP4 (Proximity Label-MS), FNBP4 (Affinity Capture-MS), FNBP4 (Proximity Label-MS), FNBP4 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GTU1, A2AUY4, B7ZS37, D3Z8Y2, D4A4L4, D4A666, E1B7L7, O46385, O60293, O75152, O95425, P0DQW0, Q08AZ1, Q3KQW7, Q3U1C4, Q3UH68, Q3ZC82, Q4G0F8, Q4V9H5, Q5F3Z9, Q5NBX1, Q5REG6, Q5ZJJ1, Q5ZM88, Q61464, Q62394, Q68FE9, Q6NZF1, Q6PJT7, Q6ZQ03, Q6ZU65, Q76L83, Q7TMD5, Q8BHZ4, Q8BJ05, Q8BLG0, Q8BZ32, Q8C9B9, Q8CCJ9, Q8K298
Diamond homologs: Q6ZQ03, Q8N3X1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 68 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 |
|---|---|---|---|
| mRNA Polyadenylation | 9 | 14.9× | 1e-06 |
| mRNA Splicing | 6 | 12.4× | 6e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 8 | 12.4× | 2e-05 |
| mRNA Splicing - Major Pathway | 12 | 12.4× | 5e-08 |
| Dengue Virus-Host Interactions | 10 | 8.6× | 2e-05 |
| Metabolism of RNA | 8 | 6.3× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 8 | 12.2× | 6e-05 |
| mRNA processing | 9 | 11.8× | 3e-05 |
| RNA splicing | 7 | 10.3× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
153 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 101 |
| Likely benign | 9 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3023 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:47717508:TGCCA:T | acceptor_gain | 1.0000 |
| 11:47717510:CCA:C | acceptor_gain | 1.0000 |
| 11:47717511:CA:C | acceptor_gain | 1.0000 |
| 11:47717511:CAC:C | acceptor_gain | 1.0000 |
| 11:47717513:C:CC | acceptor_gain | 1.0000 |
| 11:47719932:A:C | donor_gain | 1.0000 |
| 11:47719933:CCAG:C | donor_gain | 1.0000 |
| 11:47720084:TGC:T | acceptor_gain | 1.0000 |
| 11:47720087:C:CC | acceptor_gain | 1.0000 |
| 11:47722988:T:TA | donor_gain | 1.0000 |
| 11:47724171:CT:C | acceptor_gain | 1.0000 |
| 11:47731368:TCTCA:T | donor_loss | 1.0000 |
| 11:47731369:CTCAC:C | donor_loss | 1.0000 |
| 11:47731370:TCA:T | donor_loss | 1.0000 |
| 11:47731371:CA:C | donor_loss | 1.0000 |
| 11:47731372:A:AC | donor_gain | 1.0000 |
| 11:47731373:C:CC | donor_gain | 1.0000 |
| 11:47731373:C:T | donor_loss | 1.0000 |
| 11:47731557:GATCC:G | acceptor_gain | 1.0000 |
| 11:47731558:ATCC:A | acceptor_gain | 1.0000 |
| 11:47731559:TCC:T | acceptor_gain | 1.0000 |
| 11:47731560:CC:C | acceptor_gain | 1.0000 |
| 11:47731560:CCC:C | acceptor_gain | 1.0000 |
| 11:47731561:CC:C | acceptor_gain | 1.0000 |
| 11:47731561:CCT:C | acceptor_loss | 1.0000 |
| 11:47731562:C:CC | acceptor_gain | 1.0000 |
| 11:47731562:C:T | acceptor_gain | 1.0000 |
| 11:47731567:T:C | acceptor_gain | 1.0000 |
| 11:47731567:T:TC | acceptor_gain | 1.0000 |
| 11:47731901:ATTTC:A | donor_gain | 1.0000 |
AlphaMissense
6595 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:47717464:C:A | W1004C | 1.000 |
| 11:47717464:C:G | W1004C | 1.000 |
| 11:47717466:A:G | W1004R | 1.000 |
| 11:47717466:A:T | W1004R | 1.000 |
| 11:47720042:C:A | W950C | 1.000 |
| 11:47720042:C:G | W950C | 1.000 |
| 11:47720044:A:G | W950R | 1.000 |
| 11:47720044:A:T | W950R | 1.000 |
| 11:47731510:C:A | W624C | 1.000 |
| 11:47731510:C:G | W624C | 1.000 |
| 11:47731512:A:G | W624R | 1.000 |
| 11:47731512:A:T | W624R | 1.000 |
| 11:47731542:A:C | Y614D | 1.000 |
| 11:47731550:C:G | R611P | 1.000 |
| 11:47732542:C:A | W605C | 1.000 |
| 11:47732542:C:G | W605C | 1.000 |
| 11:47732543:C:G | W605S | 1.000 |
| 11:47732544:A:G | W605R | 1.000 |
| 11:47732544:A:T | W605R | 1.000 |
| 11:47732550:A:G | C603R | 1.000 |
| 11:47732554:C:A | W601C | 1.000 |
| 11:47732554:C:G | W601C | 1.000 |
| 11:47732556:A:G | W601R | 1.000 |
| 11:47732556:A:T | W601R | 1.000 |
| 11:47732591:A:G | L589P | 1.000 |
| 11:47732612:A:G | L582P | 1.000 |
| 11:47732624:A:G | L578P | 1.000 |
| 11:47732651:C:G | R569P | 1.000 |
| 11:47732655:A:G | W568R | 1.000 |
| 11:47732655:A:T | W568R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000167069 (11:47751287 C>A), RS1000200109 (11:47751023 C>A,G,T), RS1000295641 (11:47721483 G>A), RS1000304289 (11:47721463 T>C), RS1000381097 (11:47751442 G>A,C), RS1000430264 (11:47757293 C>T), RS1000452047 (11:47762224 C>T), RS1000511169 (11:47767473 T>C,G), RS1000533234 (11:47735239 T>C), RS1000565854 (11:47728315 T>C), RS1000615497 (11:47739832 G>A), RS1000646850 (11:47739630 A>G), RS1000671141 (11:47720708 A>T), RS1000735414 (11:47763546 G>A,C), RS1000793883 (11:47756629 T>A,C)
Disease associations
OMIM: gene MIM:615265 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004904_244 | Body mass index | 1.000000e-09 |
| GCST005232_56 | Neuroticism | 1.000000e-16 |
| GCST005905_14 | Global electrical heterogeneity phenotypes | 6.000000e-09 |
| GCST006718_7 | Alcohol use disorder (consumption score) | 3.000000e-09 |
| GCST006896_9 | Free thyroxine concentration | 8.000000e-11 |
| GCST006923_11 | Loneliness | 1.000000e-07 |
| GCST006924_13 | Loneliness (MTAG) | 1.000000e-08 |
| GCST007559_27 | Sleep duration (short sleep) | 4.000000e-08 |
| GCST007825_4 | Alzheimer’s disease or fasting glucose levels (pleiotropy) | 3.000000e-16 |
| GCST007944_2 | Medication use (antiglaucoma preparations and miotics) | 1.000000e-08 |
| GCST010002_238 | Refractive error | 2.000000e-14 |
| GCST010136_2 | Fruit consumption | 5.000000e-09 |
| GCST010703_36 | Brain morphology (MOSTest) | 8.000000e-09 |
| GCST011369_19 | Iron status biomarkers (ferritin levels) | 3.000000e-13 |
| GCST90000025_155 | Appendicular lean mass | 3.000000e-37 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0007660 | neuroticism measurement |
| EFO:0004327 | electrocardiography |
| EFO:0007865 | loneliness measurement |
| EFO:0009944 | Antiglaucoma preparations and miotics use measurement |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004459 | ferritin measurement |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 4 |
| bisphenol A | decreases expression, decreases methylation, affects cotreatment | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| K 7174 | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants, Occupational | affects expression, increases abundance, increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Demecolcine | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
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.