FILIP1L
geneOn this page
Also known as DOC-1GIP130
Summary
FILIP1L (filamin A interacting protein 1 like, HGNC:24589) is a protein-coding gene on chromosome 3q12.1, encoding Filamin A-interacting protein 1-like (Q4L180). Acts as a regulator of the antiangiogenic activity on endothelial cells.
Predicted to be involved in protein localization to actin cytoskeleton. Predicted to act upstream of or within several processes, including hindgut development; proteasomal protein catabolic process; and protein secretion. Predicted to be located in cytoplasm; membrane; and nucleus. Predicted to be active in actin cytoskeleton and centrosome.
Source: NCBI Gene 11259 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 11 total
- MANE Select transcript:
NM_001387850
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24589 |
| Approved symbol | FILIP1L |
| Name | filamin A interacting protein 1 like |
| Location | 3q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DOC-1, GIP130 |
| Ensembl gene | ENSG00000168386 |
| Ensembl biotype | protein_coding |
| OMIM | 612993 |
| Entrez | 11259 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000331335, ENST00000354552, ENST00000383694, ENST00000398326, ENST00000468533, ENST00000471562, ENST00000476723, ENST00000477258, ENST00000487087, ENST00000495625
RefSeq mRNA: 8 — MANE Select: NM_001387850
NM_001042459, NM_001282793, NM_001282794, NM_001370247, NM_001387850, NM_001387852, NM_014890, NM_182909
CCDS: CCDS43117, CCDS43118, CCDS43119, CCDS63700, CCDS74969, CCDS93331
Canonical transcript exons
ENST00000477258 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001822355 | 99828811 | 99830605 |
| ENSE00002255350 | 99930769 | 99931030 |
| ENSE00002273323 | 99929856 | 99930029 |
| ENSE00002292471 | 99924230 | 99924408 |
| ENSE00003519650 | 99848295 | 99851070 |
| ENSE00003920901 | 100114053 | 100114501 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 99.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.9712 / max 6072.6070, expressed in 1572 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43473 | 24.7151 | 1544 |
| 43474 | 5.8787 | 661 |
| 43472 | 3.6736 | 796 |
| 43460 | 3.0016 | 288 |
| 43480 | 0.3346 | 30 |
| 43463 | 0.2910 | 84 |
| 43459 | 0.2412 | 74 |
| 43481 | 0.2385 | 31 |
| 43462 | 0.2271 | 63 |
| 43461 | 0.2046 | 62 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| saphenous vein | UBERON:0007318 | 99.48 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.19 | gold quality |
| blood vessel layer | UBERON:0004797 | 98.76 | gold quality |
| vena cava | UBERON:0004087 | 98.68 | gold quality |
| urethra | UBERON:0000057 | 98.59 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.36 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.27 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.06 | gold quality |
| ascending aorta | UBERON:0001496 | 98.00 | gold quality |
| right coronary artery | UBERON:0001625 | 97.99 | gold quality |
| aorta | UBERON:0000947 | 97.67 | gold quality |
| popliteal artery | UBERON:0002250 | 97.38 | gold quality |
| tibial artery | UBERON:0007610 | 97.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.08 | gold quality |
| gall bladder | UBERON:0002110 | 96.99 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.53 | gold quality |
| triceps brachii | UBERON:0001509 | 96.22 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.22 | gold quality |
| left coronary artery | UBERON:0001626 | 96.12 | gold quality |
| coronary artery | UBERON:0001621 | 96.04 | gold quality |
| biceps brachii | UBERON:0001507 | 95.84 | gold quality |
| sperm | CL:0000019 | 95.83 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.73 | gold quality |
| diaphragm | UBERON:0001103 | 95.70 | gold quality |
| lower esophagus | UBERON:0013473 | 95.66 | gold quality |
| gluteal muscle | UBERON:0002000 | 95.59 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.59 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.49 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.43 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.43 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 29.76 |
| E-CURD-46 | yes | 24.42 |
| E-MTAB-8410 | yes | 19.86 |
| E-CURD-112 | yes | 13.28 |
| E-MTAB-10553 | yes | 7.13 |
| E-HCAD-9 | yes | 5.18 |
| E-GEOD-130148 | yes | 4.84 |
| E-MTAB-6678 | no | 3.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB1
miRNA regulators (miRDB)
47 targeting FILIP1L, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-3171 | 99.49 | 69.06 | 776 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-8064 | 99.45 | 66.92 | 875 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
Literature-anchored findings (GeneRIF, showing 12)
- DOC1 might play a role in mediating some of the effects of EMAP-II on endothelial cells (PMID:15935955)
- these findings suggest that downregulation of FILIP1L associated with DNA methylation is related with the invasive phenotype in ovarian cancer and that modulation of FILIP1L expression has the potential to be a target for ovarian cancer therapy. (PMID:21693594)
- a novel function for FILIP-1L and a pathway for Hsf1 degradation through the ubiquitin-proteasome system. (PMID:21784850)
- GPBP directs myofibril formation through interaction with intracellular downstream effector 130-kDa GPBP-interacting protein (PMID:21832087)
- In addition, eight genes classified as ‘second tier’ hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. (PMID:23512105)
- these findings suggest that FILIP1L reduces beta-catenin levels, which may lead to the transcriptional downregulation of WNT target genes such as MMPs, resulting in inhibition of metastasis (PMID:24327474)
- down-regulation of FILIP1L associated with DNA methylation is related with the invasive phenotype in various cancers. (PMID:24340050)
- FILIP1L inhibits progression in colorectal cancer by inhibiting tumor cell proliferation and angiogenesis. (PMID:27750216)
- Studies have shown that FILIP1L expression is related with inhibition of metastases and chemoresistance of ovarian neoplasm, which is associated with downregulation of EMT through beta-catenin degradation. FILIP1L expression correlates with significantly improved overall survival. (PMID:27776341)
- FILIP1L Loss Is a Driver of Aggressive Mucinous Colorectal Adenocarcinoma and Mediates Cytokinesis Defects through PFDN1. (PMID:34417201)
- FILIP1L-mediated cell apoptosis, epithelial-mesenchymal transition and extracellular matrix synthesis aggravate posterior capsular opacification. (PMID:34666037)
- Long-chain noncoding RNA LINC01569 upregulates filamin A-interacting protein 1-like to prevent metastasis of triple-negative breast cancer via sponging miR-300. (PMID:37955081)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Filip1l | ENSMUSG00000043336 |
| rattus_norvegicus | Filip1l | ENSRNOG00000001645 |
| caenorhabditis_elegans | WBGENE00016792 |
Paralogs (3): FILIP1 (ENSG00000118407), CTTNBP2NL (ENSG00000143079), LUZP1 (ENSG00000169641)
Protein
Protein identifiers
Filamin A-interacting protein 1-like — Q4L180 (reviewed: Q4L180)
Alternative names: 130 kDa GPBP-interacting protein, 90 kDa GPBP-interacting protein, Protein down-regulated in ovarian cancer 1
All UniProt accessions (3): Q4L180, C9JYJ6, H7C4M0
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature.
Subcellular location. Cytoplasm. Membrane. Nucleus.
Tissue specificity. Expressed in endothelial cells, colon and colon cancers. In the colon, expressed in the vasculature and muscularis mucosa. In colon cancer, strongly expressed in tumor stroma and the vasculature (at protein level). Expressed in ovarian epithelial cells. Down-regulated in ovarian cancer.
Induction. Up-regulated in endothelial cells with the angiogenesis inhibitors endostatin and fumagillin. By endothelial monocyte-activating polypeptide II in endothelial cells.
Similarity. Belongs to the FILIP1 family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q4L180-1 | 1, a, d | yes |
| Q4L180-2 | 2, b, c | |
| Q4L180-3 | 3 | |
| Q4L180-4 | 4 | |
| Q4L180-5 | 5 | |
| Q4L180-6 | 6 | |
| Q4L180-7 | 7 |
RefSeq proteins (8): NP_001035924, NP_001269722, NP_001269723, NP_001357176, NP_001374779, NP_001374781, NP_055705, NP_878913 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019131 | Cortactin-binding_p2_N | Domain |
| IPR050719 | Cortactin-Actin_Reg | Family |
Pfam: PF09727
UniProt features (22 total): splice variant 7, sequence conflict 5, modified residue 4, sequence variant 2, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4L180-F1 | 68.64 | 0.39 |
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 (4): 791, 986, 994, 1052
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 264 (showing top):
MODULE_52, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, FOSTER_TOLERANT_MACROPHAGE_UP, MAINA_VHL_TARGETS_UP, INGRAM_SHH_TARGETS_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, MODULE_99, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GENTILE_UV_HIGH_DOSE_DN, COATES_MACROPHAGE_M1_VS_M2_UP, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE
GO Biological Process (1): protein localization to actin cytoskeleton (GO:1903119)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein localization to cytoskeleton | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1239 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FILIP1L | SLC16A8 | O95907 | 668 |
| FILIP1L | RAD51B | O15315 | 607 |
| FILIP1L | B3GLCT | Q6Y288 | 581 |
| FILIP1L | ADAMTS9 | Q9P2N4 | 566 |
| FILIP1L | ERVW-1 | Q9UQF0 | 550 |
| FILIP1L | COL8A1 | P27658 | 505 |
| FILIP1L | H3BT92 | H3BT92 | 472 |
| FILIP1L | IER3 | P46695 | 459 |
| FILIP1L | FLNC | Q14315 | 448 |
| FILIP1L | DDR1 | Q08345 | 443 |
| FILIP1L | TGFBR1 | P36897 | 439 |
| FILIP1L | CMSS1 | Q9BQ75 | 435 |
| FILIP1L | HMCN1 | Q96RW7 | 416 |
| FILIP1L | SIRAL2 | Q9NWS6 | 406 |
| FILIP1L | FRK | P42685 | 401 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FILIP1L | PDIA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FILIP1L | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| SOX4 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.270 |
| SP7 | IGF2BP3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FILIP1L | nusB | psi-mi:“MI:0915”(physical association) | 0.000 |
| FILIP1L | grpE | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): FILIP1L (Affinity Capture-MS), FILIP1L (Affinity Capture-RNA), SMTN (Two-hybrid), FILIP1L (Two-hybrid), FILIP1L (Proximity Label-MS), FILIP1L (Proximity Label-MS), FILIP1L (Proximity Label-MS), FILIP1L (Proximity Label-MS), FILIP1L (Affinity Capture-MS), FILIP1L (Affinity Capture-MS), FILIP1L (Proximity Label-MS), FILIP1L (Cross-Linking-MS (XL-MS)), FILIP1L (Cross-Linking-MS (XL-MS)), SMC1A (Cross-Linking-MS (XL-MS)), FILIP1L (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0MZ66, A0MZ67, A6PWD2, A7MD70, B3DLE8, B9EKI3, F7DP49, O35550, O35551, O45420, P82094, Q05D60, Q08DR9, Q15276, Q28IH8, Q3KR99, Q3UIJ9, Q4L180, Q4R7H3, Q4V7C8, Q53EZ4, Q5BIX7, Q5R923, Q5RA03, Q5RI56, Q5U3Z6, Q6NRC9, Q6NRW2, Q6P0R8, Q6P402, Q6P6L0, Q7YS99, Q7Z7B0, Q861Q8, Q8BT07, Q8BVC4, Q8K2Q9, Q8K3K8, Q8K4T4, Q8R5M4
Diamond homologs: A0M8S4, A0M8T5, A1X157, B9EJA2, Q00PJ1, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07DZ5, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q108T9, Q2IBA2, Q2IBB2, Q2IBD4, Q2IBE6, Q2IBF7, Q2IBF8, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9, Q4L180, Q5RDH2, Q6P6L0, Q8SX68, Q8WZ74, Q99LJ0, Q9P2B4, A3KNA5, Q7Z7B0, Q8K4T4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FILIP1L | “down-regulates quantity by destabilization” | FLNC | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4860 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:100051302:GAGTA:G | donor_gain | 1.0000 |
| 3:100051304:GTA:G | donor_gain | 1.0000 |
| 3:99986345:CAT:C | acceptor_gain | 1.0000 |
| 3:99986347:T:TC | acceptor_gain | 1.0000 |
| 3:100003230:CA:C | acceptor_gain | 0.9900 |
| 3:100003231:A:C | acceptor_gain | 0.9900 |
| 3:100004501:GAT:G | donor_gain | 0.9900 |
| 3:100010130:GGTAA:G | acceptor_gain | 0.9900 |
| 3:100011374:T:TA | donor_gain | 0.9900 |
| 3:100011375:A:AA | donor_gain | 0.9900 |
| 3:100019783:GGA:G | donor_gain | 0.9900 |
| 3:100019784:GAG:G | donor_gain | 0.9900 |
| 3:100019786:G:GG | donor_gain | 0.9900 |
| 3:100033382:G:GT | donor_gain | 0.9900 |
| 3:100051305:T:TA | donor_gain | 0.9900 |
| 3:100051306:A:AA | donor_gain | 0.9900 |
| 3:100109212:A:AG | acceptor_gain | 0.9900 |
| 3:99836675:A:G | donor_gain | 0.9900 |
| 3:99841060:G:GG | donor_gain | 0.9900 |
| 3:99851067:TAAT:T | acceptor_gain | 0.9900 |
| 3:99851068:AATC:A | acceptor_loss | 0.9900 |
| 3:99851069:ATCT:A | acceptor_loss | 0.9900 |
| 3:99851070:TC:T | acceptor_loss | 0.9900 |
| 3:99851071:C:CC | acceptor_gain | 0.9900 |
| 3:99851071:C:T | acceptor_loss | 0.9900 |
| 3:99851072:T:G | acceptor_loss | 0.9900 |
| 3:99876375:GGAA:G | donor_gain | 0.9900 |
| 3:99878677:GGC:G | donor_gain | 0.9900 |
| 3:99882237:C:A | donor_gain | 0.9900 |
| 3:99924405:CCAA:C | acceptor_gain | 0.9900 |
AlphaMissense
7899 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:99848485:A:G | I1064T | 0.998 |
| 3:99848491:A:G | I1062T | 0.998 |
| 3:99848926:A:T | L917H | 0.998 |
| 3:99848965:A:G | I904T | 0.998 |
| 3:99848965:A:T | I904K | 0.998 |
| 3:99848833:A:G | I948T | 0.997 |
| 3:99848839:A:G | I946T | 0.997 |
| 3:99848926:A:G | L917P | 0.997 |
| 3:99848491:A:C | I1062S | 0.996 |
| 3:99848833:A:T | I948N | 0.996 |
| 3:99848932:G:T | A915D | 0.996 |
| 3:99848959:A:T | V906D | 0.996 |
| 3:99848485:A:C | I1064S | 0.995 |
| 3:99848485:A:T | I1064N | 0.995 |
| 3:99848920:A:G | I919T | 0.995 |
| 3:99848833:A:C | I948S | 0.994 |
| 3:99848920:A:C | I919S | 0.994 |
| 3:99848965:A:C | I904R | 0.994 |
| 3:99849376:A:G | L767P | 0.994 |
| 3:99848880:A:C | S932R | 0.993 |
| 3:99848880:A:T | S932R | 0.993 |
| 3:99848882:T:G | S932R | 0.993 |
| 3:99848349:G:C | S1109R | 0.992 |
| 3:99848349:G:T | S1109R | 0.992 |
| 3:99848351:T:G | S1109R | 0.992 |
| 3:99848839:A:T | I946K | 0.991 |
| 3:99848959:A:G | V906A | 0.991 |
| 3:99850198:A:G | L493P | 0.991 |
| 3:99850972:A:G | L235P | 0.991 |
| 3:99848491:A:T | I1062N | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000004816 (3:99904708 A>G), RS1000048422 (3:100027567 C>T), RS1000049619 (3:99833364 C>T), RS1000053667 (3:99889444 A>C), RS1000054268 (3:99890725 G>A,T), RS1000075081 (3:100093441 T>A,C), RS1000098534 (3:99944169 C>T), RS1000108258 (3:99882293 T>C), RS1000112198 (3:99988877 T>G), RS1000115249 (3:99897848 T>G), RS1000129984 (3:99944413 C>A,T), RS1000136078 (3:99853285 A>G), RS1000144746 (3:100080095 T>C), RS1000149869 (3:99833887 T>A), RS1000150773 (3:100007368 A>G)
Disease associations
OMIM: gene MIM:612993 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001884_18 | Age-related macular degeneration | 4.000000e-13 |
| GCST002115_7 | Axial length | 5.000000e-11 |
| GCST004988_436 | Breast cancer | 5.000000e-10 |
| GCST009462_49 | Optic disc size | 2.000000e-08 |
| GCST010002_434 | Refractive error | 5.000000e-25 |
| GCST012228_65 | Waist-hip index | 3.000000e-08 |
| GCST012228_67 | Waist-hip index | 3.000000e-10 |
| GCST012230_264 | Waist-to-hip ratio adjusted for BMI | 4.000000e-08 |
| GCST012230_265 | Waist-to-hip ratio adjusted for BMI | 5.000000e-08 |
| GCST012230_267 | Waist-to-hip ratio adjusted for BMI | 5.000000e-10 |
| GCST012231_187 | A body shape index | 1.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005318 | axial length measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
78 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases expression, increases expression | 6 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, affects expression | 4 |
| Valproic Acid | increases expression, affects expression, decreases expression | 4 |
| sodium arsenite | decreases expression | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Particulate Matter | increases abundance, decreases expression | 3 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| ethylbenzene | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| 2-xylene | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | decreases expression, affects cotreatment | 1 |
| aflatoxin B2 | increases methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 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): age-related macular degeneration