EGFLAM
gene geneOn this page
Also known as FLJ39155AGRINLAGRNLPIKA
Summary
EGFLAM (EGF like, fibronectin type III and laminin G domains, HGNC:26810) is a protein-coding gene on chromosome 5p13.2-p13.1, encoding Pikachurin (Q63HQ2). Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception.
Predicted to enable calcium ion binding activity and glycosaminoglycan binding activity. Predicted to act upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Part of cell surface.
Source: NCBI Gene 133584 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 199 total
- MANE Select transcript:
NM_152403
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26810 |
| Approved symbol | EGFLAM |
| Name | EGF like, fibronectin type III and laminin G domains |
| Location | 5p13.2-p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ39155, AGRINL, AGRNL, PIKA |
| Ensembl gene | ENSG00000164318 |
| Ensembl biotype | protein_coding |
| OMIM | 617683 |
| Entrez | 133584 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000322350, ENST00000336740, ENST00000354891, ENST00000397202, ENST00000397210, ENST00000504709, ENST00000506135, ENST00000508131, ENST00000508868, ENST00000513131, ENST00000514476
RefSeq mRNA: 4 — MANE Select: NM_152403
NM_001205301, NM_152403, NM_182798, NM_182801
CCDS: CCDS3924, CCDS3925, CCDS47199, CCDS56363
Canonical transcript exons
ENST00000322350 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001243246 | 38462908 | 38463011 |
| ENSE00001243406 | 38438275 | 38438455 |
| ENSE00001243414 | 38435137 | 38435253 |
| ENSE00001243423 | 38431177 | 38431288 |
| ENSE00001243501 | 38458311 | 38458394 |
| ENSE00001345105 | 38463832 | 38465480 |
| ENSE00001621585 | 38406126 | 38406241 |
| ENSE00001668826 | 38406828 | 38407146 |
| ENSE00001731042 | 38409004 | 38409104 |
| ENSE00001736163 | 38407805 | 38407905 |
| ENSE00001754862 | 38370296 | 38370462 |
| ENSE00001756078 | 38418066 | 38418255 |
| ENSE00003474728 | 38337520 | 38337629 |
| ENSE00003475956 | 38352196 | 38352331 |
| ENSE00003498625 | 38424967 | 38425092 |
| ENSE00003524469 | 38338698 | 38338781 |
| ENSE00003530437 | 38412504 | 38412648 |
| ENSE00003559075 | 38350501 | 38350618 |
| ENSE00003594467 | 38448301 | 38448379 |
| ENSE00003622013 | 38427009 | 38427252 |
| ENSE00003666933 | 38451315 | 38451458 |
| ENSE00003847947 | 38258559 | 38258851 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 94.09.
FANTOM5 (CAGE): breadth broad, TPM avg 3.1662 / max 96.3490, expressed in 693 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 56190 | 1.4146 | 471 |
| 56187 | 0.8983 | 230 |
| 56189 | 0.6195 | 290 |
| 56186 | 0.1844 | 88 |
| 203529 | 0.0263 | 11 |
| 56188 | 0.0124 | 3 |
| 203530 | 0.0108 | 4 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 94.09 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.07 | gold quality |
| muscle of leg | UBERON:0001383 | 93.68 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.49 | gold quality |
| deltoid | UBERON:0001476 | 91.21 | gold quality |
| vastus lateralis | UBERON:0001379 | 90.80 | gold quality |
| omental fat pad | UBERON:0010414 | 90.79 | gold quality |
| quadriceps femoris | UBERON:0001377 | 90.71 | gold quality |
| tibial nerve | UBERON:0001323 | 90.69 | gold quality |
| peritoneum | UBERON:0002358 | 90.65 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 90.32 | gold quality |
| apex of heart | UBERON:0002098 | 90.30 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 90.13 | gold quality |
| biceps brachii | UBERON:0001507 | 89.72 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.01 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.98 | gold quality |
| right ovary | UBERON:0002118 | 88.66 | gold quality |
| left ovary | UBERON:0002119 | 88.38 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.20 | gold quality |
| popliteal artery | UBERON:0002250 | 88.05 | gold quality |
| tibial artery | UBERON:0007610 | 88.05 | gold quality |
| adipose tissue | UBERON:0001013 | 86.99 | gold quality |
| muscle tissue | UBERON:0002385 | 86.79 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.67 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.30 | gold quality |
| cardiac ventricle | UBERON:0002082 | 86.08 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 85.24 | silver quality |
| descending thoracic aorta | UBERON:0002345 | 85.05 | gold quality |
| aorta | UBERON:0000947 | 84.93 | gold quality |
| placenta | UBERON:0001987 | 84.70 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11268 | yes | 1960.23 |
| E-ANND-3 | yes | 11.36 |
| E-GEOD-36552 | no | 58.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting EGFLAM, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
Literature-anchored findings (GeneRIF, showing 5)
- Strong candidate gene for macular dystrophy, MCDR3 (human 5p15.33-p13.1). Conclusion is based on a massive expression data set for mouse (103 strains) and joint analysis of RetNet database. (PMID:19727342)
- rs1465567 of EGFLAM and rs113710653 of SPATC1L may be susceptibility loci for true aortic aneurysm and rs143881017 of RNASE13 may be such a locus for dissecting aortic aneurysm in Japanese individuals. (PMID:28339009)
- this is the first report to describe that EGFLAM promoted the proliferation, migration and invasion of GBM cells via the activation of PI3K/AKT pathway, and predicted poor prognosis in GBM patients. (PMID:30829611)
- Structure of the photoreceptor synaptic assembly of the extracellular matrix protein pikachurin with the orphan receptor GPR179. (PMID:37490546)
- EGFLAM exhibits oncogenic activity and shows promise as a prognostic biomarker and therapeutic target in glioblastoma. (PMID:38996666)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | EGFLAM | ENSDARG00000099008 |
| mus_musculus | Egflam | ENSMUSG00000042961 |
| rattus_norvegicus | Egflam | ENSRNOG00000012058 |
Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)
Protein
Protein identifiers
Pikachurin — Q63HQ2 (reviewed: Q63HQ2)
Alternative names: Agrin-like protein, EGF-like, fibronectin type-III and laminin G-like domain-containing protein
All UniProt accessions (3): D6RG24, D6RJD2, Q63HQ2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Plays a key role in the synaptic organization of photoreceptors by mediating transsynaptic interaction between alpha-dystroglycan and GPR179 on the postsynaptic membrane. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness.
Subunit / interactions. Interacts with DAG1 alpha-dystroglycan. Interacts with GPR158 and GPR179; transsynaptic interaction is required for synaptic organization of photoreceptor cells.
Subcellular location. Secreted. Extracellular space. Extracellular matrix. Synaptic cleft. Presynaptic active zone.
Post-translational modifications. O-glycosylated; contains chondroitin sulfate and heparan sulfate.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q63HQ2-1 | 1 | yes |
| Q63HQ2-2 | 2 | |
| Q63HQ2-3 | 3 | |
| Q63HQ2-4 | 4 | |
| Q63HQ2-5 | 5 |
RefSeq proteins (4): NP_001192230, NP_689616, NP_877950, NP_877953 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000742 | EGF | Domain |
| IPR001791 | Laminin_G | Domain |
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR050372 | Neurexin-related_CASP | Family |
| IPR056943 | EGF_Pikachurin | Domain |
Pfam: PF00008, PF00041, PF00054, PF02210, PF25016
UniProt features (74 total): strand 29, disulfide bond 11, domain 8, sequence variant 6, splice variant 5, sequence conflict 5, turn 4, helix 3, signal peptide 1, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7ZC9 | X-RAY DIFFRACTION | 2.1 |
| 7ZCB | X-RAY DIFFRACTION | 2.5 |
| 8D1B | ELECTRON MICROSCOPY | 3.57 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q63HQ2-F1 | 80.81 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (11): 347–358, 352–369, 371–380, 534–564, 569–580, 574–590, 592–601, 788–799, 793–808, 810–819, 987–1014
Glycosylation sites (1): 47
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 119 (showing top):
RNGTGGGC_UNKNOWN, AGGAAGC_MIR5163P, BENPORATH_ES_WITH_H3K27ME3, GGTGTGT_MIR329, WWTAAGGC_UNKNOWN, GOBP_SYNAPSE_ASSEMBLY, RORA1_01, TTTGTAG_MIR520D, CACCAGC_MIR138, AAAYRNCTG_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, SOX9_B1, GATA1_04, GATA1_03
GO Biological Process (3): synapse assembly (GO:0007416), positive regulation of cell-substrate adhesion (GO:0010811), extracellular matrix organization (GO:0030198)
GO Molecular Function (3): calcium ion binding (GO:0005509), glycosaminoglycan binding (GO:0005539), protein binding (GO:0005515)
GO Cellular Component (10): basement membrane (GO:0005604), interstitial matrix (GO:0005614), synaptic cleft (GO:0043083), presynaptic active zone (GO:0048786), photoreceptor ribbon synapse (GO:0098684), extracellular region (GO:0005576), cell surface (GO:0009986), extracellular matrix (GO:0031012), cell projection (GO:0042995), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| extracellular matrix | 2 |
| nervous system development | 1 |
| cell junction assembly | 1 |
| synapse organization | 1 |
| regulation of cell-substrate adhesion | 1 |
| cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| extracellular structure organization | 1 |
| external encapsulating structure organization | 1 |
| metal ion binding | 1 |
| carbohydrate derivative binding | 1 |
| binding | 1 |
| extracellular region | 1 |
| presynapse | 1 |
| ribbon synapse | 1 |
| external encapsulating structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
2000 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EGFLAM | DAG1 | Q14118 | 994 |
| EGFLAM | DMD | P11532 | 690 |
| EGFLAM | POMT2 | Q9UKY4 | 649 |
| EGFLAM | POMT1 | Q9Y6A1 | 644 |
| EGFLAM | GPR179 | Q6PRD1 | 628 |
| EGFLAM | CTBP2 | P56545 | 617 |
| EGFLAM | CABP4 | P57796 | 594 |
| EGFLAM | POMGNT1 | Q8WZA1 | 594 |
| EGFLAM | FKTN | O75072 | 592 |
| EGFLAM | TLR3 | O15455 | 569 |
| EGFLAM | FKRP | Q9H9S5 | 547 |
| EGFLAM | NRXN2 | Q9P2S2 | 541 |
| EGFLAM | B4GAT1 | O43505 | 537 |
| EGFLAM | NRXN1 | Q9ULB1 | 530 |
| EGFLAM | LRIT3 | Q3SXY7 | 517 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDPK1 | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| FGF1 | SDC4 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR179 | EGFLAM | psi-mi:“MI:0915”(physical association) | 0.460 |
| GPR179 | EGFLAM | psi-mi:“MI:0403”(colocalization) | 0.460 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| Gpr158 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| EGFLAM | CLSTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| BTRC | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (17): EGFLAM (Affinity Capture-RNA), EGFLAM (Affinity Capture-MS), EGFLAM (Affinity Capture-MS), EGFLAM (Affinity Capture-MS), EGFLAM (Affinity Capture-MS), EGFLAM (Affinity Capture-MS), FBXW11 (Affinity Capture-MS), EGFLAM (Affinity Capture-MS), DAG1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), BTRC (Affinity Capture-MS), UBR1 (Affinity Capture-MS), CLSTN1 (Affinity Capture-MS), MAN2C1 (Affinity Capture-MS), EGFLAM (Affinity Capture-MS)
ESM2 similar proteins: A1XQX0, A1XQX2, A1XQX8, A1XQY1, A3KN33, B4F785, B8UU78, D0PRN3, E9Q7X7, P12080, P29319, P29320, P54764, Q02763, Q02858, Q03137, Q06807, Q07310, Q07496, Q0V8S9, Q0V8T0, Q0V8T3, Q0V8T4, Q0V8T5, Q0V8T6, Q0V8T7, Q0V8T8, Q0V8T9, Q19617, Q28146, Q3KN41, Q4VBE4, Q5RD64, Q63372, Q63374, Q63HQ2, Q6P9K9, Q8QFX6, Q8WYK1, Q91694
Diamond homologs: A2ASQ1, A2ASS6, A3KN33, A8DYP0, B4F785, O00468, O35474, O43854, O55005, O88516, O89026, O94779, P00740, P25304, P29294, P35590, Q05793, Q06561, Q16787, Q4LDE5, Q4VBE4, Q5R7K9, Q5RBN1, Q63HQ2, Q7TPD3, Q8N9C0, Q8TER0, Q8WZ42, Q95ND7, Q96MS0, Q9HCK4, Q9NYJ7, Q9NYQ8, Q9Y2H6, Q9Y6N7, Q9Z2I4, A2CG49, G5EBF1, O01761, O60229
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
199 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 164 |
| Likely benign | 9 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4402 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:38258850:AGGTA:A | donor_loss | 1.0000 |
| 5:38258851:GGTAA:G | donor_loss | 1.0000 |
| 5:38337511:T:TA | acceptor_gain | 1.0000 |
| 5:38337512:G:A | acceptor_gain | 1.0000 |
| 5:38337630:G:GG | donor_gain | 1.0000 |
| 5:38338782:G:GA | donor_loss | 1.0000 |
| 5:38338783:T:TC | donor_loss | 1.0000 |
| 5:38338784:GA:G | donor_loss | 1.0000 |
| 5:38370285:A:AG | acceptor_gain | 1.0000 |
| 5:38370286:A:G | acceptor_gain | 1.0000 |
| 5:38370289:A:AG | acceptor_gain | 1.0000 |
| 5:38370290:A:AG | acceptor_gain | 1.0000 |
| 5:38370292:A:AG | acceptor_gain | 1.0000 |
| 5:38370292:AAAG:A | acceptor_gain | 1.0000 |
| 5:38370293:A:G | acceptor_gain | 1.0000 |
| 5:38370294:A:AG | acceptor_gain | 1.0000 |
| 5:38370295:G:GG | acceptor_gain | 1.0000 |
| 5:38370295:GGCC:G | acceptor_gain | 1.0000 |
| 5:38370295:GGCCA:G | acceptor_gain | 1.0000 |
| 5:38370463:G:GG | donor_gain | 1.0000 |
| 5:38406121:T:TA | acceptor_gain | 1.0000 |
| 5:38406124:A:AG | acceptor_gain | 1.0000 |
| 5:38406125:G:GG | acceptor_gain | 1.0000 |
| 5:38406237:AGGAG:A | donor_loss | 1.0000 |
| 5:38406238:GGAG:G | donor_gain | 1.0000 |
| 5:38406238:GGAGG:G | donor_loss | 1.0000 |
| 5:38406239:G:GT | donor_gain | 1.0000 |
| 5:38406240:AGGT:A | donor_loss | 1.0000 |
| 5:38406241:GGT:G | donor_loss | 1.0000 |
| 5:38406243:T:G | donor_loss | 1.0000 |
AlphaMissense
6630 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:38352270:T:A | W162R | 0.994 |
| 5:38352270:T:C | W162R | 0.994 |
| 5:38458382:T:A | V928D | 0.993 |
| 5:38431215:T:C | L698P | 0.992 |
| 5:38427183:T:C | L662P | 0.991 |
| 5:38431227:G:C | R702P | 0.991 |
| 5:38458372:T:A | W925R | 0.991 |
| 5:38458372:T:C | W925R | 0.991 |
| 5:38407901:T:C | F415S | 0.990 |
| 5:38425050:T:C | C590R | 0.990 |
| 5:38448349:T:C | L846P | 0.990 |
| 5:38370391:T:C | F214S | 0.989 |
| 5:38425056:T:C | C592R | 0.989 |
| 5:38427216:T:C | F673S | 0.989 |
| 5:38427219:G:C | R674P | 0.989 |
| 5:38451382:T:A | W879R | 0.989 |
| 5:38451382:T:C | W879R | 0.989 |
| 5:38458388:C:A | A930D | 0.989 |
| 5:38425052:C:G | C590W | 0.988 |
| 5:38425083:T:A | C601S | 0.988 |
| 5:38425084:G:C | C601S | 0.988 |
| 5:38427185:T:C | S663P | 0.988 |
| 5:38458374:G:C | W925C | 0.988 |
| 5:38458374:G:T | W925C | 0.988 |
| 5:38462985:T:C | L958P | 0.988 |
| 5:38337585:T:A | W55R | 0.987 |
| 5:38337585:T:C | W55R | 0.987 |
| 5:38425084:G:A | C601Y | 0.987 |
| 5:38438419:T:C | C810R | 0.987 |
| 5:38407895:T:C | L413P | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000031020 (5:38354703 C>T), RS1000040573 (5:38369994 G>C), RS1000058290 (5:38296743 G>A), RS1000076544 (5:38415839 G>A), RS1000078375 (5:38342926 C>G), RS1000108875 (5:38462762 T>C,G), RS1000112961 (5:38418466 G>A), RS1000137512 (5:38399432 T>C), RS1000167522 (5:38289604 T>G), RS1000174045 (5:38352812 G>C,T), RS1000178226 (5:38294562 T>C), RS1000203315 (5:38373217 T>G), RS1000210679 (5:38334995 C>T), RS1000211303 (5:38337874 A>C), RS1000267842 (5:38399952 C>A,T)
Disease associations
OMIM: gene MIM:617683 | 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 |
|---|---|---|
| GCST001591_1 | Response to citalopram treatment | 3.000000e-06 |
| GCST003801_5 | Response to selective serotonin reuptake inhibitors in depression | 4.000000e-07 |
| GCST005174_17 | Coronary artery calcified atherosclerotic plaque score in type 2 diabetes | 6.000000e-06 |
| GCST005212_31 | Asthma | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0004723 | coronary artery calcification |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 4 |
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| bisphenol A | decreases methylation, affects cotreatment, increases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| tebuconazole | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cytarabine | decreases expression | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Pesticides | decreases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1F1 | SEES3-1V human EGFLAM, clone1 | Embryonic stem cell | Male |
| CVCL_A1F2 | SEES3-1V human EGFLAM, clone2 | Embryonic stem cell | Male |
| CVCL_A1F3 | SEES3-1V human EGFLAM, clone3 | Embryonic stem cell | Male |
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.