FRMPD2
gene geneOn this page
Also known as MGC35285
Summary
FRMPD2 (FERM and PDZ domain containing 2, HGNC:28572) is a protein-coding gene on chromosome 10q11.22, encoding FERM and PDZ domain-containing protein 2 (Q68DX3). Functions as a scaffold protein and likely plays a role in N-methyl-D-aspartic acid receptor (NMDAR)-mediated synaptic excitatory transmission.
This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 143162 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 207 total
- MANE Select transcript:
NM_001018071
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28572 |
| Approved symbol | FRMPD2 |
| Name | FERM and PDZ domain containing 2 |
| Location | 10q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC35285 |
| Ensembl gene | ENSG00000170324 |
| Ensembl biotype | protein_coding |
| OMIM | 613323 |
| Entrez | 143162 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 7 retained_intron, 3 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000305531, ENST00000374201, ENST00000463706, ENST00000468556, ENST00000474573, ENST00000477710, ENST00000486151, ENST00000491130, ENST00000492045, ENST00000494505, ENST00000505547, ENST00000635925, ENST00000636244, ENST00000637395
RefSeq mRNA: 3 — MANE Select: NM_001018071
NM_001018071, NM_001042512, NM_001318191
CCDS: CCDS31195, CCDS81460
Canonical transcript exons
ENST00000374201 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001631802 | 48222313 | 48222451 |
| ENSE00001702910 | 48211954 | 48212109 |
| ENSE00001726333 | 48223123 | 48223270 |
| ENSE00001883394 | 48274543 | 48274696 |
| ENSE00002463746 | 48178047 | 48178151 |
| ENSE00002492231 | 48156562 | 48157370 |
| ENSE00003469469 | 48168595 | 48168693 |
| ENSE00003478210 | 48240360 | 48240492 |
| ENSE00003497484 | 48192684 | 48192894 |
| ENSE00003526705 | 48236482 | 48236553 |
| ENSE00003529662 | 48174870 | 48174955 |
| ENSE00003531582 | 48251566 | 48251691 |
| ENSE00003531602 | 48201228 | 48201384 |
| ENSE00003538842 | 48170994 | 48171208 |
| ENSE00003551827 | 48184774 | 48184881 |
| ENSE00003564431 | 48206748 | 48206933 |
| ENSE00003578372 | 48184566 | 48184682 |
| ENSE00003590296 | 48249021 | 48249178 |
| ENSE00003592162 | 48175846 | 48175939 |
| ENSE00003599184 | 48163328 | 48163671 |
| ENSE00003617735 | 48172946 | 48173093 |
| ENSE00003625550 | 48185553 | 48185645 |
| ENSE00003635349 | 48239605 | 48239692 |
| ENSE00003641074 | 48232115 | 48232289 |
| ENSE00003672372 | 48244784 | 48244849 |
| ENSE00003673441 | 48242161 | 48242352 |
| ENSE00003678092 | 48180803 | 48181008 |
| ENSE00003680303 | 48237991 | 48238123 |
| ENSE00003691697 | 48187192 | 48187292 |
Expression profiles
Bgee: expression breadth ubiquitous, 127 present calls, max score 93.17.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9917 / max 164.6851, expressed in 173 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109291 | 0.4176 | 107 |
| 109294 | 0.2435 | 49 |
| 109295 | 0.1572 | 51 |
| 109293 | 0.0562 | 16 |
| 109292 | 0.0514 | 17 |
| 109288 | 0.0305 | 10 |
| 109287 | 0.0172 | 4 |
| 109290 | 0.0161 | 4 |
| 109289 | 0.0020 | 0 |
Top tissues by expression
141 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| superior frontal gyrus | UBERON:0002661 | 93.17 | gold quality |
| quadriceps femoris | UBERON:0001377 | 87.31 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.29 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 86.03 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 85.82 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.21 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.47 | gold quality |
| frontal cortex | UBERON:0001870 | 83.34 | gold quality |
| right uterine tube | UBERON:0001302 | 83.17 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 83.03 | gold quality |
| cerebral cortex | UBERON:0000956 | 82.15 | gold quality |
| corpus callosum | UBERON:0002336 | 82.05 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.29 | gold quality |
| primary visual cortex | UBERON:0002436 | 79.21 | gold quality |
| telencephalon | UBERON:0001893 | 78.73 | gold quality |
| left testis | UBERON:0004533 | 77.73 | gold quality |
| hypothalamus | UBERON:0001898 | 77.63 | gold quality |
| temporal lobe | UBERON:0001871 | 77.47 | gold quality |
| amygdala | UBERON:0001876 | 77.27 | gold quality |
| testis | UBERON:0000473 | 77.25 | gold quality |
| right testis | UBERON:0004534 | 76.88 | gold quality |
| caudate nucleus | UBERON:0001873 | 76.81 | gold quality |
| brain | UBERON:0000955 | 73.85 | gold quality |
| Ammon’s horn | UBERON:0001954 | 73.49 | gold quality |
| nucleus accumbens | UBERON:0001882 | 71.67 | gold quality |
| substantia nigra | UBERON:0002038 | 68.90 | gold quality |
| fallopian tube | UBERON:0003889 | 67.56 | gold quality |
| putamen | UBERON:0001874 | 66.77 | gold quality |
| right lung | UBERON:0002167 | 64.44 | gold quality |
| right atrium auricular region | UBERON:0006631 | 62.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.71 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- These results provide novel insights into the molecular function of FRMPD2 and into the targeting mechanism of peripheral membrane proteins in polarized epithelial cells. (PMID:19706687)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | frmpd2 | ENSDARG00000074119 |
| mus_musculus | Frmpd2 | ENSMUSG00000108841 |
| rattus_norvegicus | Frmpd2 | ENSRNOG00000029131 |
| caenorhabditis_elegans | WBGENE00001492 | |
| caenorhabditis_elegans | WBGENE00021406 |
Paralogs (5): LNX1 (ENSG00000072201), MPDZ (ENSG00000107186), PATJ (ENSG00000132849), LNX2 (ENSG00000139517), STXBP4 (ENSG00000166263)
Protein
Protein identifiers
FERM and PDZ domain-containing protein 2 — Q68DX3 (reviewed: Q68DX3)
Alternative names: PDZ domain-containing protein 4, PDZ domain-containing protein 5C
All UniProt accessions (3): Q68DX3, A0A1B0GUQ4, A0A1B0GV40
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a scaffold protein and likely plays a role in N-methyl-D-aspartic acid receptor (NMDAR)-mediated synaptic excitatory transmission. May be involved in synapse formation in cone photoreceptor cells. May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). May play a role in the regulation of NOD2-mediated NF-kappa-B activation in immune response.
Subunit / interactions. Interacts (via the second PDZ domain) with CTNND2 (via the extreme C-terminus). Interacts (via the second PDZ domain) with PKP4 (via the extreme C-terminus); the interaction directs FRMPD2 to the basolateral membranes. Interacts (via the second PDZ domain) with ARVCF (via the extreme C-terminus). Interacts (via the second PDZ domain) with NMDAR subunits GRIN2A/GLUN2A and GRIN2B/GLUN2B (via the extreme C-terminus); the interaction is direct and is likely to promote NMDAR-mediated neural signal transmission. Interacts (via the third PDZ domain) with LRIT1 (via the extreme C-terminus); the interaction leads to their colocalization in photoreceptor synapses. Interacts with NOD2; the interaction is likely to trigger NOD2-mediated NF-kappa-B activation.
Subcellular location. Cytoplasm. Basolateral cell membrane. Cell junction. Tight junction. Postsynaptic density.
Tissue specificity. Expressed in epithelial cells.
Domain organisation. The FERM and PDZ 2 domains are necessary for localization to the basolateral cell membrane. The FERM domain binds to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and is sufficient for membrane localization.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q68DX3-1 | 1 | yes |
| Q68DX3-2 | 2 | |
| Q68DX3-3 | 3 | |
| Q68DX3-4 | 4 | |
| Q68DX3-5 | 5 |
RefSeq proteins (2): NP_001018081, NP_001305120 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000299 | FERM_domain | Domain |
| IPR001478 | PDZ | Domain |
| IPR011019 | KIND_dom | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR014352 | FERM/acyl-CoA-bd_prot_sf | Homologous_superfamily |
| IPR018979 | FERM_N | Domain |
| IPR018980 | FERM_PH-like_C | Domain |
| IPR019748 | FERM_central | Domain |
| IPR019749 | Band_41_domain | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR035963 | FERM_2 | Homologous_superfamily |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR052074 | NonRcpt_TyrProt_Phosphatase | Family |
Pfam: PF00373, PF00595, PF09379, PF09380
UniProt features (36 total): sequence conflict 9, splice variant 8, sequence variant 6, domain 5, region of interest 4, compositionally biased region 2, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q68DX3-F1 | 64.04 | 0.27 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 955 | abolishes the basolateral membrane localization. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 58 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_APICAL_JUNCTION_ASSEMBLY, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_CELL_CELL_JUNCTION_ASSEMBLY, GOCC_CELL_CELL_JUNCTION, GOCC_APICAL_PART_OF_CELL, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, CAMPS_COLON_CANCER_COPY_NUMBER_DN, GOCC_ANCHORING_JUNCTION, GOCC_PLASMA_MEMBRANE_REGION, GOCC_BASAL_PART_OF_CELL, GOMF_PHOSPHATIDYLINOSITOL_BINDING, GOMF_1_PHOSPHATIDYLINOSITOL_BINDING
GO Biological Process (1): bicellular tight junction assembly (GO:0070830)
GO Molecular Function (2): 1-phosphatidylinositol binding (GO:0005545), protein binding (GO:0005515)
GO Cellular Component (10): cytoplasm (GO:0005737), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), postsynaptic density (GO:0014069), basolateral plasma membrane (GO:0016323), apical part of cell (GO:0045177), cytoskeleton (GO:0005856), membrane (GO:0016020), synapse (GO:0045202), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell junction | 2 |
| apical junction assembly | 1 |
| tight junction assembly | 1 |
| phospholipid binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| basal plasma membrane | 1 |
| plasma membrane region | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
434 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FRMPD2 | PKP4 | Q99569 | 804 |
| FRMPD2 | ARVCF | O00192 | 755 |
| FRMPD2 | CTNND2 | Q9UQB3 | 699 |
| FRMPD2 | CTNND1 | O60716 | 597 |
| FRMPD2 | PTPN20 | Q4JDL3 | 533 |
| FRMPD2 | REM1 | O75628 | 460 |
| FRMPD2 | ARHGAP22 | Q7Z5H3 | 449 |
| FRMPD2 | GDF10 | P55107 | 443 |
| FRMPD2 | AGAP6 | Q5VW22 | 436 |
| FRMPD2 | SNTA1 | Q13424 | 435 |
| FRMPD2 | UBTD1 | Q9HAC8 | 434 |
| FRMPD2 | PPP1R27 | Q86WC6 | 427 |
| FRMPD2 | KNDC1 | Q76NI1 | 419 |
| FRMPD2 | CDH1 | P12830 | 415 |
| FRMPD2 | FHIP2A | Q5W0V3 | 411 |
IntAct
1132 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PCGF5 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.880 |
| FRMPD2 | NRXN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD2 | PTEN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAS2L2 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABCA1 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKI | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRPV3 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MCM7 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC1A7 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| EPHA7 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RAPGEF2 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGAP6 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKZ | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLEKHA1 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RAPGEF6 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CNKSR2 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| XKR7 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD2 | FCHSD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RGS12 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PBK | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PTPRZ1 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HTR2A | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD2 | ATP2B4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APC | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CTNND2 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD2 | PTPRG | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NECTIN3 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNA7 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC16A3 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD2 | PPFIA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (19): PKN2 (Affinity Capture-MS), SARS (Affinity Capture-MS), PKN2 (Affinity Capture-MS), SARS (Affinity Capture-MS), FRMPD2 (Affinity Capture-RNA), FRMPD2 (Protein-peptide), E6 (PCA), PKN2 (Affinity Capture-MS), FRMPD2 (Affinity Capture-MS), SARS (Affinity Capture-MS), PROSC (Affinity Capture-MS), NAGK (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), LIMCH1 (Affinity Capture-MS), VPS37C (Affinity Capture-MS)
ESM2 similar proteins: A0A140LI67, B5KFD7, D4A7V9, M0R4F8, O08774, O35827, O43187, O70167, O70173, O88866, O88900, O95398, O95704, P0C5Y8, Q0P5I2, Q13322, Q14449, Q4QQS0, Q5BIW4, Q5ICW4, Q5JV73, Q5PQS0, Q5R810, Q60760, Q68DX3, Q6IFT4, Q6IRN0, Q6P4K6, Q6REY9, Q6S5L8, Q6TXD4, Q7TSI1, Q80TQ5, Q80VA5, Q8BW88, Q8CFA1, Q8IWE5, Q8R1C9, Q8R2S1, Q8VCC8
Diamond homologs: A0A140LI67, A5PKA5, A7UA95, E1JIT7, O14910, O15018, O19132, O35274, O35867, O35889, O62666, O62674, O62675, O62676, O62677, O62678, O88951, O88952, P11434, P29475, P29476, P31016, P51140, P55196, P57105, P78352, Q07436, Q0P5F3, Q12923, Q14005, Q29498, Q2KIB6, Q32LM6, Q3T0C9, Q3UHD6, Q4KL35, Q5F425, Q5RAA5, Q62108, Q64512
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 115 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 |
|---|---|---|---|
| EPHB-mediated forward signaling | 5 | 16.4× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
207 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 168 |
| Likely benign | 26 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5101 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:48174865:CTCA:C | donor_loss | 1.0000 |
| 10:48174866:TCA:T | donor_loss | 1.0000 |
| 10:48174867:CAC:C | donor_loss | 1.0000 |
| 10:48174868:ACCTG:A | donor_gain | 1.0000 |
| 10:48174869:C:CG | donor_loss | 1.0000 |
| 10:48174869:CCTGC:C | donor_gain | 1.0000 |
| 10:48174953:CAC:C | acceptor_gain | 1.0000 |
| 10:48174955:CCTGG:C | acceptor_loss | 1.0000 |
| 10:48174956:C:CC | acceptor_gain | 1.0000 |
| 10:48174956:CTGGG:C | acceptor_loss | 1.0000 |
| 10:48174957:T:A | acceptor_loss | 1.0000 |
| 10:48175844:AC:A | donor_gain | 1.0000 |
| 10:48175845:CC:C | donor_gain | 1.0000 |
| 10:48175863:T:TA | donor_gain | 1.0000 |
| 10:48178045:A:AC | donor_gain | 1.0000 |
| 10:48178046:C:CC | donor_gain | 1.0000 |
| 10:48183363:C:CA | donor_gain | 1.0000 |
| 10:48183372:T:TA | donor_gain | 1.0000 |
| 10:48187186:CCATA:C | donor_loss | 1.0000 |
| 10:48187187:CATA:C | donor_loss | 1.0000 |
| 10:48187188:ATAC:A | donor_loss | 1.0000 |
| 10:48187189:TA:T | donor_loss | 1.0000 |
| 10:48187190:A:C | donor_loss | 1.0000 |
| 10:48187191:C:CA | donor_loss | 1.0000 |
| 10:48187288:AGGGG:A | acceptor_gain | 1.0000 |
| 10:48187289:GGGG:G | acceptor_gain | 1.0000 |
| 10:48187290:GGG:G | acceptor_gain | 1.0000 |
| 10:48187291:GG:G | acceptor_gain | 1.0000 |
| 10:48187291:GGCTG:G | acceptor_loss | 1.0000 |
| 10:48187293:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
8547 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:48171160:A:G | F1091S | 0.996 |
| 10:48171159:G:C | F1091L | 0.993 |
| 10:48171159:G:T | F1091L | 0.993 |
| 10:48171161:A:G | F1091L | 0.993 |
| 10:48171043:T:A | D1130V | 0.990 |
| 10:48171043:T:G | D1130A | 0.990 |
| 10:48171163:C:T | G1090E | 0.990 |
| 10:48171037:A:G | I1132T | 0.989 |
| 10:48171043:T:C | D1130G | 0.989 |
| 10:48171037:A:T | I1132N | 0.988 |
| 10:48171044:C:G | D1130H | 0.988 |
| 10:48171032:C:G | A1134P | 0.987 |
| 10:48171037:A:C | I1132S | 0.987 |
| 10:48249078:G:C | F84L | 0.987 |
| 10:48249078:G:T | F84L | 0.987 |
| 10:48249080:A:G | F84L | 0.987 |
| 10:48171073:G:T | A1120D | 0.986 |
| 10:48171055:A:T | I1126N | 0.984 |
| 10:48171100:A:G | I1111T | 0.984 |
| 10:48184586:A:G | L855S | 0.984 |
| 10:48171100:A:C | I1111S | 0.983 |
| 10:48178057:A:G | F962S | 0.983 |
| 10:48168650:A:G | L1161P | 0.981 |
| 10:48171164:C:G | G1090R | 0.981 |
| 10:48171164:C:T | G1090R | 0.981 |
| 10:48171156:A:C | S1092R | 0.979 |
| 10:48171156:A:T | S1092R | 0.979 |
| 10:48171158:T:G | S1092R | 0.979 |
| 10:48175854:A:G | I994T | 0.978 |
| 10:48168650:A:T | L1161H | 0.976 |
dbSNP variants (sampled 300 via entrez): RS1000010349 (10:48189409 G>A), RS1000021197 (10:48218438 C>A,G), RS1000053387 (10:48224847 G>A,T), RS1000076901 (10:48231494 T>G), RS1000159264 (10:48248179 C>G,T), RS1000172559 (10:48250175 C>A), RS1000179280 (10:48208776 C>T), RS1000209009 (10:48207440 T>C), RS1000299296 (10:48231057 C>T), RS1000317810 (10:48247863 A>G), RS1000320814 (10:48236949 T>C), RS1000348668 (10:48255918 A>C), RS1000401651 (10:48217602 T>C,G), RS1000419806 (10:48261984 T>A), RS1000420897 (10:48223280 A>C)
Disease associations
OMIM: gene MIM:613323 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_9 | Daytime sleep phenotypes | 4.000000e-06 |
| GCST003997_7 | Myopia | 4.000000e-13 |
| GCST006291_29 | Spherical equivalent or myopia (age of diagnosis) | 2.000000e-13 |
| GCST010002_287 | Refractive error | 2.000000e-49 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:0004847 | age at onset |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| OTX015 | decreases expression | 1 |
| mivebresib | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| tebuconazole | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Phthalic Acids | decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Testosterone | decreases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Permethrin | decreases expression | 1 |
| S-Nitrosoglutathione | 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.