FRMD3
geneOn this page
Also known as EPB41L4OMGC20553
Summary
FRMD3 (FERM domain containing 3, HGNC:24125) is a protein-coding gene on chromosome 9q21.32, encoding FERM domain-containing protein 3 (A2A2Y4). Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.
The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 257019 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 92 total
- MANE Select transcript:
NM_174938
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24125 |
| Approved symbol | FRMD3 |
| Name | FERM domain containing 3 |
| Location | 9q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EPB41L4O, MGC20553 |
| Ensembl gene | ENSG00000172159 |
| Ensembl biotype | protein_coding |
| OMIM | 607619 |
| Entrez | 257019 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000304195, ENST00000328788, ENST00000376434, ENST00000376438, ENST00000431299, ENST00000465485, ENST00000621208, ENST00000874517, ENST00000874518, ENST00000874519, ENST00000962006
RefSeq mRNA: 6 — MANE Select: NM_174938
NM_001244959, NM_001244960, NM_001244961, NM_001244962, NM_001375487, NM_174938
CCDS: CCDS43840, CCDS59131, CCDS59132, CCDS59133, CCDS75852
Canonical transcript exons
ENST00000304195 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000917620 | 83335516 | 83335639 |
| ENSE00000982976 | 83343190 | 83343287 |
| ENSE00000982977 | 83313660 | 83313747 |
| ENSE00001090436 | 83298748 | 83298816 |
| ENSE00001090437 | 83299112 | 83299186 |
| ENSE00001090438 | 83309536 | 83309624 |
| ENSE00001090439 | 83290603 | 83290727 |
| ENSE00001197901 | 83311887 | 83311975 |
| ENSE00001214627 | 83310485 | 83310548 |
| ENSE00001672459 | 83372913 | 83372955 |
| ENSE00001732627 | 83349679 | 83349757 |
| ENSE00001751790 | 83389604 | 83389708 |
| ENSE00001939314 | 83244622 | 83248516 |
| ENSE00002729116 | 83538085 | 83538401 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 99.91.
FANTOM5 (CAGE): breadth broad, TPM avg 4.2178 / max 256.9421, expressed in 843 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101135 | 3.4914 | 763 |
| 101131 | 0.4532 | 111 |
| 101132 | 0.2600 | 119 |
| 101130 | 0.0133 | 4 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.91 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.86 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.69 | gold quality |
| apex of heart | UBERON:0002098 | 96.01 | gold quality |
| oocyte | CL:0000023 | 95.41 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.93 | gold quality |
| myocardium | UBERON:0002349 | 94.69 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.42 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.01 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.01 | gold quality |
| muscle of leg | UBERON:0001383 | 93.11 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.07 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 92.81 | gold quality |
| cortical plate | UBERON:0005343 | 92.75 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.71 | gold quality |
| seminal vesicle | UBERON:0000998 | 92.56 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.45 | gold quality |
| deltoid | UBERON:0001476 | 92.19 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.89 | gold quality |
| biceps brachii | UBERON:0001507 | 91.89 | gold quality |
| quadriceps femoris | UBERON:0001377 | 91.85 | gold quality |
| vastus lateralis | UBERON:0001379 | 91.80 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 91.71 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.24 | silver quality |
| dorsal root ganglion | UBERON:0000044 | 91.09 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.07 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.00 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.82 | gold quality |
| heart | UBERON:0000948 | 90.81 | gold quality |
| caput epididymis | UBERON:0004358 | 90.68 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11268 | yes | 2174.48 |
| E-CURD-119 | yes | 43.27 |
| E-MTAB-7249 | yes | 39.48 |
| E-MTAB-7316 | yes | 22.96 |
| E-ANND-3 | yes | 10.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
134 targeting FRMD3, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
Literature-anchored findings (GeneRIF, showing 6)
- identify FRMD3 as a novel putative tumour suppressor gene suggesting an important role in the origin and progression of lung cancer. (PMID:17260017)
- These analyses reveal a role for FRMD3 in AA T2DN susceptibility. (PMID:21698141)
- model for FRMD3 in diabetic nephropathy proposes a possible transcriptional link through which the polymorphism in the FRMD3 promoter could influence transcriptional regulation within the bone morphogenetic protein (BMP)-signaling pathway (PMID:23434934)
- The risk (G and C) and non-risk (C and T) allele frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3 and CARS, respectively, did not differ significantly between the diabetics with (case) and without (control) nephropathy (P > 0.05). (PMID:26909942)
- Hsa-miR-3651 could serve as a novel predictor for in-breast recurrence via FRMD3. (PMID:34865205)
- FRMD3 inhibits the growth and metastasis of breast cancer through the ubiquitination-mediated degradation of vimentin and subsequent impairment of focal adhesion. (PMID:36631457)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | frmd3 | ENSDARG00000059885 |
| mus_musculus | Frmd3 | ENSMUSG00000049122 |
| rattus_norvegicus | Frmd3 | ENSRNOG00000006503 |
| drosophila_melanogaster | yrt | FBGN0004049 |
| drosophila_melanogaster | cora | FBGN0010434 |
| drosophila_melanogaster | Frmd5 | FBGN0032225 |
| caenorhabditis_elegans | erm-1 | WBGENE00001333 |
| caenorhabditis_elegans | frm-1 | WBGENE00001488 |
| caenorhabditis_elegans | WBGENE00001489 | |
| caenorhabditis_elegans | frm-4 | WBGENE00001491 |
Paralogs (10): MYLIP (ENSG00000007944), EPB41L2 (ENSG00000079819), EPB41L3 (ENSG00000082397), EPB41L1 (ENSG00000088367), EPB41L4B (ENSG00000095203), EPB41L5 (ENSG00000115109), EPB41L4A (ENSG00000129595), FRMD6 (ENSG00000139926), EPB41 (ENSG00000159023), FRMD5 (ENSG00000171877)
Protein
Protein identifiers
FERM domain-containing protein 3 — A2A2Y4 (reviewed: A2A2Y4)
Alternative names: Band 4.1-like protein 4O, Ovary type protein 4.1
All UniProt accessions (2): A2A2Y4, Q5JV61
UniProt curated annotations — full annotation on UniProt →
Function. Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.
Subcellular location. Membrane.
Tissue specificity. Ovary-specific.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A2A2Y4-1 | 1 | yes |
| A2A2Y4-2 | 2 | |
| A2A2Y4-3 | 3 | |
| A2A2Y4-4 | 4 | |
| A2A2Y4-5 | 5 |
RefSeq proteins (6): NP_001231888, NP_001231889, NP_001231890, NP_001231891, NP_001362416, NP_777598* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000299 | FERM_domain | Domain |
| IPR000798 | Ez/rad/moesin-like | Family |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR014352 | FERM/acyl-CoA-bd_prot_sf | Homologous_superfamily |
| IPR014847 | FA | Domain |
| IPR018979 | FERM_N | Domain |
| IPR018980 | FERM_PH-like_C | Domain |
| IPR019747 | FERM_CS | Conserved_site |
| IPR019748 | FERM_central | Domain |
| IPR019749 | Band_41_domain | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR035963 | FERM_2 | Homologous_superfamily |
Pfam: PF00373, PF08736, PF09379, PF09380
UniProt features (13 total): splice variant 6, sequence conflict 2, chain 1, transmembrane region 1, sequence variant 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A2A2Y4-F1 | 75.03 | 0.45 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 139 (showing top):
BENPORATH_ES_WITH_H3K27ME3, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, TGIF_01, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, chr9q21, GOMF_CYTOSKELETAL_PROTEIN_BINDING, HORIUCHI_WTAP_TARGETS_UP, GSE14415_INDUCED_TREG_VS_FOXP3_KO_INDUCED_TREG_IL2_CULTURE_DN, HMGA1_TARGET_GENES, HOXC6_TARGET_GENES, LHX9_TARGET_GENES, TFEB_TARGET_GENES, ZIM3_TARGET_GENES, ZNF22_TARGET_GENES
GO Biological Process (1): actomyosin structure organization (GO:0031032)
GO Molecular Function (2): cytoskeletal protein binding (GO:0008092), protein binding (GO:0005515)
GO Cellular Component (2): cytoskeleton (GO:0005856), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| actin cytoskeleton organization | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
482 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FRMD3 | CPVL | Q9H3G5 | 668 |
| FRMD3 | A0A2R8YEI5 | A0A2R8YEI5 | 663 |
| FRMD3 | LRRIQ3 | A6PVS8 | 645 |
| FRMD3 | MYH9 | P35579 | 628 |
| FRMD3 | RASEF | Q8IZ41 | 622 |
| FRMD3 | CHN2 | P52757 | 621 |
| FRMD3 | SAMD5 | Q5TGI4 | 616 |
| FRMD3 | TMC7 | Q7Z402 | 612 |
| FRMD3 | NIBAN3 | Q86XR2 | 596 |
| FRMD3 | ELMO1 | Q92556 | 571 |
| FRMD3 | CNDP1 | Q96KN2 | 542 |
| FRMD3 | C1orf94 | Q6P1W5 | 518 |
| FRMD3 | CARS1 | P49589 | 507 |
| FRMD3 | CARS2 | Q9HA77 | 501 |
| FRMD3 | MS4A1 | P08984 | 488 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FRMD3 | ZFPL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | CMTM7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | TMEM97 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | JAGN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | TMEM201 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | SERP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | TMEM218 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | NRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | SLC35A4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | CYB5B | psi-mi:“MI:0915”(physical association) | 0.560 |
| nleA/espI | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRMD3 | nleA/espI | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRMD3 | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| NFIB | psi-mi:“MI:0914”(association) | 0.350 | |
| FRMD3 | ATP5F1D | psi-mi:“MI:0914”(association) | 0.350 |
| ZFPL1 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM218 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERP1 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NRM | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC35A4 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CYB5B | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLPP4 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CMTM7 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM97 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| JAGN1 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM201 | FRMD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (33): ATP5D (Affinity Capture-MS), ATP5O (Affinity Capture-MS), OXA1L (Affinity Capture-MS), COLEC12 (Affinity Capture-MS), LCLAT1 (Affinity Capture-MS), KLHL15 (Affinity Capture-MS), REEP4 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), GYLTL1B (Affinity Capture-MS), CKAP4 (Affinity Capture-MS), LMBR1 (Affinity Capture-MS), FRMD3 (Affinity Capture-RNA), FRMD3 (Two-hybrid), FRMD3 (Two-hybrid), FRMD3 (Two-hybrid)
ESM2 similar proteins: A0JM95, A1A4S6, A2A2Y4, A4II46, A4IJ06, A6NI28, B2RQE8, B5DFQ4, F1LVW7, O60879, O60890, O70566, O95267, P0C7A6, P0CAX5, Q02384, Q07889, Q07890, Q08DP6, Q0P4Q4, Q28EC1, Q4V7P7, Q566W7, Q5R6F6, Q5R803, Q5U4T3, Q62245, Q69ZK0, Q6DBW1, Q6DHR3, Q6NTL4, Q6PCS4, Q6Y5D8, Q6ZM89, Q7YQL5, Q7YQL6, Q8AVG0, Q8BHD4, Q8IV61, Q8N9B8
Diamond homologs: A2A2Y4, A2AD83, A2ALK8, B2RYE5, F1LYQ8, F1P065, F8VPU2, O43491, O57457, O70318, O94887, P11171, P11434, P26045, P28191, P29074, P48193, P52963, Q0P4Q4, Q54K81, Q58CU2, Q5FVG2, Q5R803, Q5RAB8, Q6P5H6, Q6Q7P4, Q6ZUT3, Q7Z6J6, Q8BGS1, Q8BHD4, Q91VS8, Q9H329, Q9H4G0, Q9HCM4, Q9HCS5, Q9JMC8, Q9MYU8, Q9N179, Q9V8R9, Q9WTP0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
92 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3986 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:83248134:CTTG:C | donor_gain | 1.0000 |
| 9:83248136:TG:T | donor_gain | 1.0000 |
| 9:83248402:T:TA | donor_gain | 1.0000 |
| 9:83248417:T:TA | donor_gain | 1.0000 |
| 9:83290597:ACTT:A | donor_loss | 1.0000 |
| 9:83290598:CTT:C | donor_loss | 1.0000 |
| 9:83290599:TTA:T | donor_loss | 1.0000 |
| 9:83290600:TA:T | donor_loss | 1.0000 |
| 9:83290601:A:AC | donor_gain | 1.0000 |
| 9:83290601:AC:A | donor_gain | 1.0000 |
| 9:83290601:ACCC:A | donor_loss | 1.0000 |
| 9:83290602:C:CC | donor_gain | 1.0000 |
| 9:83290602:CC:C | donor_gain | 1.0000 |
| 9:83290602:CCCT:C | donor_gain | 1.0000 |
| 9:83290726:CT:C | acceptor_gain | 1.0000 |
| 9:83290727:TCTG:T | acceptor_loss | 1.0000 |
| 9:83290728:C:CC | acceptor_gain | 1.0000 |
| 9:83290728:CTGA:C | acceptor_loss | 1.0000 |
| 9:83290729:T:G | acceptor_loss | 1.0000 |
| 9:83298743:CTCA:C | donor_loss | 1.0000 |
| 9:83298745:CA:C | donor_loss | 1.0000 |
| 9:83298746:A:AT | donor_loss | 1.0000 |
| 9:83298747:C:G | donor_loss | 1.0000 |
| 9:83298812:TCCCA:T | acceptor_gain | 1.0000 |
| 9:83298813:CCCA:C | acceptor_gain | 1.0000 |
| 9:83298813:CCCAC:C | acceptor_gain | 1.0000 |
| 9:83298814:CCA:C | acceptor_gain | 1.0000 |
| 9:83298814:CCAC:C | acceptor_gain | 1.0000 |
| 9:83298815:CA:C | acceptor_gain | 1.0000 |
| 9:83298815:CAC:C | acceptor_gain | 1.0000 |
AlphaMissense
3966 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:83309570:A:G | W298R | 1.000 |
| 9:83309570:A:T | W298R | 1.000 |
| 9:83309572:A:G | L297P | 1.000 |
| 9:83309580:G:C | C294W | 1.000 |
| 9:83309581:C:T | C294Y | 1.000 |
| 9:83311888:A:G | W258R | 1.000 |
| 9:83311888:A:T | W258R | 1.000 |
| 9:83311947:C:T | G238E | 1.000 |
| 9:83313663:G:C | C227W | 1.000 |
| 9:83313671:G:C | H225D | 1.000 |
| 9:83343240:A:G | L141P | 1.000 |
| 9:83343243:C:G | R140P | 1.000 |
| 9:83343258:T:A | D135V | 1.000 |
| 9:83343258:T:G | D135A | 1.000 |
| 9:83343259:C:G | D135H | 1.000 |
| 9:83349720:G:C | F111L | 1.000 |
| 9:83349720:G:T | F111L | 1.000 |
| 9:83349722:A:G | F111L | 1.000 |
| 9:83372948:A:G | L87P | 1.000 |
| 9:83372948:A:T | L87H | 1.000 |
| 9:83372950:C:A | W86C | 1.000 |
| 9:83372950:C:G | W86C | 1.000 |
| 9:83372952:A:G | W86R | 1.000 |
| 9:83372952:A:T | W86R | 1.000 |
| 9:83389696:C:A | G54W | 1.000 |
| 9:83309541:A:C | F307L | 0.999 |
| 9:83309541:A:T | F307L | 0.999 |
| 9:83309542:A:G | F307S | 0.999 |
| 9:83309543:A:G | F307L | 0.999 |
| 9:83309560:C:T | G301E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000014571 (9:83498251 T>C), RS1000028099 (9:83344954 T>C), RS1000037327 (9:83307830 A>G,T), RS1000049751 (9:83286588 T>C), RS1000050735 (9:83475857 C>T), RS1000050976 (9:83562468 C>T), RS1000066898 (9:83485971 T>C), RS1000084306 (9:83436440 CA>C), RS1000086053 (9:83568172 CT>C), RS1000103296 (9:83388306 G>C), RS1000113120 (9:83451817 C>T), RS1000116725 (9:83258879 A>C,T), RS1000128851 (9:83319865 G>A,T), RS1000134759 (9:83442547 A>G), RS1000135898 (9:83265301 G>A)
Disease associations
OMIM: gene MIM:607619 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002591_22 | Lewy body disease | 9.000000e-06 |
| GCST002591_40 | Lewy body disease | 2.000000e-06 |
| GCST003773_8 | Loneliness (multivariate analysis) | 4.000000e-07 |
| GCST004384_4 | Hypertension | 1.000000e-08 |
| GCST004388_1 | Blood pressure traits (multi-trait analysis) | 7.000000e-09 |
| GCST005221_1 | Insulin sensitivity index | 2.000000e-07 |
| GCST009391_2131 | Metabolite levels | 6.000000e-06 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006799 | Lewy body dementia measurement |
| EFO:0007865 | loneliness measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004471 | insulin sensitivity measurement |
| EFO:0010383 | phosphatidylcholine 36:5 measurement |
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 cotreatment, increases expression, affects expression | 5 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Air Pollutants | increases expression, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sodium arsenite | affects splicing, decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| nickel sulfate | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| MRK 003 | decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| gardiquimod | increases expression, decreases reaction | 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): Lewy body dementia