HOMER3
gene geneOn this page
Also known as HOMER-3
Summary
HOMER3 (homer scaffold protein 3, HGNC:17514) is a protein-coding gene on chromosome 19p13.11, encoding Homer protein homolog 3 (Q9NSC5). Postsynaptic density scaffolding protein.
This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9454 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_004838
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17514 |
| Approved symbol | HOMER3 |
| Name | homer scaffold protein 3 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HOMER-3 |
| Ensembl gene | ENSG00000051128 |
| Ensembl biotype | protein_coding |
| OMIM | 604800 |
| Entrez | 9454 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 18 protein_coding, 2 retained_intron
ENST00000221222, ENST00000392351, ENST00000433218, ENST00000539827, ENST00000542541, ENST00000594439, ENST00000594794, ENST00000595756, ENST00000596482, ENST00000599097, ENST00000599808, ENST00000600077, ENST00000861160, ENST00000861161, ENST00000861162, ENST00000936392, ENST00000936393, ENST00000971943, ENST00000971944, ENST00000971945
RefSeq mRNA: 4 — MANE Select: NM_004838
NM_001145721, NM_001145722, NM_001145724, NM_004838
CCDS: CCDS12391, CCDS46022, CCDS46023
Canonical transcript exons
ENST00000392351 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001113523 | 18929203 | 18929634 |
| ENSE00001122610 | 18934303 | 18934410 |
| ENSE00001182908 | 18938728 | 18938884 |
| ENSE00001223641 | 18938353 | 18938484 |
| ENSE00001511549 | 18938969 | 18939049 |
| ENSE00002301558 | 18941051 | 18941217 |
| ENSE00003520895 | 18932924 | 18933045 |
| ENSE00003542404 | 18931976 | 18932132 |
| ENSE00003562658 | 18931509 | 18931625 |
| ENSE00003608757 | 18931325 | 18931411 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 97.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.9560 / max 292.2226, expressed in 1750 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180117 | 27.2904 | 1747 |
| 180116 | 1.3913 | 869 |
| 180115 | 0.5449 | 363 |
| 180114 | 0.4006 | 213 |
| 180113 | 0.3288 | 159 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 97.29 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.54 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.30 | gold quality |
| spleen | UBERON:0002106 | 96.04 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.47 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.40 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.38 | gold quality |
| spinal cord | UBERON:0002240 | 95.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.24 | gold quality |
| cerebellum | UBERON:0002037 | 95.00 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.80 | gold quality |
| muscle of leg | UBERON:0001383 | 94.52 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 93.91 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.64 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.17 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.11 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.06 | gold quality |
| muscle organ | UBERON:0001630 | 92.74 | gold quality |
| monocyte | CL:0000576 | 92.68 | gold quality |
| paraflocculus | UBERON:0005351 | 92.60 | gold quality |
| thyroid gland | UBERON:0002046 | 92.16 | gold quality |
| mononuclear cell | CL:0000842 | 91.94 | gold quality |
| leukocyte | CL:0000738 | 91.50 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.24 | gold quality |
| ascending aorta | UBERON:0001496 | 91.02 | gold quality |
| thoracic aorta | UBERON:0001515 | 90.91 | gold quality |
| skin of leg | UBERON:0001511 | 90.54 | gold quality |
| endocervix | UBERON:0000458 | 90.49 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.18 | gold quality |
| gluteal muscle | UBERON:0002000 | 90.17 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8271 | yes | 15.77 |
| E-CURD-114 | yes | 10.17 |
| E-ANND-3 | yes | 7.60 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPA
miRNA regulators (miRDB)
13 targeting HOMER3, 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-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-376A-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-376B-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-6773-5P | 97.04 | 64.30 | 595 |
| HSA-MIR-6724-5P | 96.41 | 63.11 | 507 |
| HSA-MIR-4743-5P | 88.08 | 64.31 | 91 |
Literature-anchored findings (GeneRIF, showing 10)
- Homer-3 may be involved in the regulation of SRE activation in T cells via interaction between its EVH1 domain and C/EBP beta. (PMID:14645007)
- Fat1 exhibit co-localisation with Homer-3 in cellular protrusions and at the plasma membrane of HeLa cells (PMID:16979624)
- study found that Homer2 and Homer3 are negative regulators of T cell activation; this is achieved through binding of nuclear factor of activated T cells (NFAT) and by competing with calcineurin (PMID:18218901)
- Homer3 specifically associates with a novel ubiquitin-like domain in the I kappa B kinase (IKK) beta subunit of the IKK complex. (PMID:20693425)
- Loss of Homer3 is associated with acute myeloid leukemia. (PMID:23725168)
- Interaction of the protein with amyloid precursor protein is regulated by calcium homeostasis. (PMID:24792907)
- Homer3 acts as a scaffold that spatially organizes actin assembly to support neutrophil polarity and motility downstream of GPCR activation. (PMID:25739453)
- HOMER3 facilitates growth factor-mediated beta-Catenin tyrosine phosphorylation and activation to promote metastasis in triple negative breast cancer. (PMID:33407765)
- Glycoproteomics identifies HOMER3 as a potentially targetable biomarker triggered by hypoxia and glucose deprivation in bladder cancer. (PMID:34108014)
- HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis. (PMID:38266459)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | homer3b | ENSDARG00000010789 |
| danio_rerio | homer3a | ENSDARG00000102532 |
| mus_musculus | Homer3 | ENSMUSG00000003573 |
| rattus_norvegicus | Homer3 | ENSRNOG00000020229 |
Paralogs (2): HOMER2 (ENSG00000103942), HOMER1 (ENSG00000152413)
Protein
Protein identifiers
Homer protein homolog 3 — Q9NSC5 (reviewed: Q9NSC5)
All UniProt accessions (5): Q9NSC5, M0QYF9, M0QZN1, M0R2T8, M0R2U7
UniProt curated annotations — full annotation on UniProt →
Function. Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein binding, hence preventing NFAT activation by PPP3CA.
Subunit / interactions. Tetramer. Isoform 1 and isoform 2 encode coiled-coil structures that mediate homo- and heteromultimerization. Interacts with NFATC2; interaction is calcium independent; interaction competes with PPP3CA for NFATC2 binding; interaction is reduced by AKT activation. Interacts with NFATC1 and NFATC4. Interacts with SHANK1; forms a high-order complex at least composed of SHANK1 and HOMER3; the complex formation is regulated by CAMK2A-mediated phosphorylation.
Subcellular location. Cytoplasm. Postsynaptic density. Synapse.
Domain organisation. The WH1 domain interacts with the PPXXF motif in GRM1, GRM5, RYR1, RYR2, ITPR1, SHANK 1 and SHANK3.
Similarity. Belongs to the Homer family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NSC5-1 | 1, 3a | yes |
| Q9NSC5-2 | 2 | |
| Q9NSC5-3 | 3, 3c | |
| Q9NSC5-4 | 4, 3d | |
| Q9NSC5-5 | 5 |
RefSeq proteins (4): NP_001139193, NP_001139194, NP_001139196, NP_004829* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000697 | WH1/EVH1_dom | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR044100 | Homer_EVH1 | Domain |
| IPR045027 | Homer | Family |
Pfam: PF00568
UniProt features (36 total): mutagenesis site 8, strand 8, splice variant 6, turn 3, region of interest 2, helix 2, coiled-coil region 2, modified residue 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2P8V | X-RAY DIFFRACTION | 1.85 |
| 3CVF | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NSC5-F1 | 83.47 | 0.62 |
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 (2): 120, 159
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 22 | does not affect interaction with nfatc2. decreases interaction with nfatc2; when associated with 53-l–s-56. decreases i |
| 30–31 | markedly decreases interaction with nfatc2; when associated with s-43 and 53-l–s-56. markedly decreases interaction wit |
| 36 | does not affect interaction with nfatc2; when associated with a-38 and a-52. attenuates inhibition by akt; when associat |
| 38 | does not affect interaction with nfatc2; when associated with a-36 and a-52. attenuates inhibition by akt; when associat |
| 43 | does not affect interaction with nfatc2. decreases interaction with nfatc2; when associated with n-22 and 53-l–s-56. ma |
| 52 | does not affect interaction with nfatc2; when associated with a-36 and a-38. attenuates inhibition by akt; when associat |
| 53–56 | decreases interaction with nfatc2. decreases interaction with nfatc2; when associated with n-22. decreases interaction w |
| 54 | decreases interaction with nfatc2. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6794361 | Neurexins and neuroligins |
MSigDB gene sets: 192 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, GOBP_PROTEIN_TARGETING, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, CROONQUIST_NRAS_SIGNALING_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_G_PROTEIN_COUPLED_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_SUSTAINDED_IN_ERYTHROCYTE_UP
GO Biological Process (6): protein targeting (GO:0006605), G protein-coupled glutamate receptor signaling pathway (GO:0007216), negative regulation of interleukin-2 production (GO:0032703), regulation of synaptic transmission, glutamatergic (GO:0051966), negative regulation of calcineurin-NFAT signaling cascade (GO:0070885), regulation of store-operated calcium entry (GO:2001256)
GO Molecular Function (4): protein domain specific binding (GO:0019904), G protein-coupled glutamate receptor binding (GO:0035256), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), dendrite (GO:0030425), basal part of cell (GO:0045178), glutamatergic synapse (GO:0098978), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Protein-protein interactions at synapses | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein binding | 2 |
| establishment of protein localization | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| glutamate receptor signaling pathway | 1 |
| G protein-coupled glutamate receptor activity | 1 |
| negative regulation of cytokine production | 1 |
| interleukin-2 production | 1 |
| regulation of interleukin-2 production | 1 |
| synaptic transmission, glutamatergic | 1 |
| modulation of chemical synaptic transmission | 1 |
| calcineurin-NFAT signaling cascade | 1 |
| regulation of calcineurin-NFAT signaling cascade | 1 |
| negative regulation of calcineurin-mediated signaling | 1 |
| store-operated calcium entry | 1 |
| regulation of calcium ion transport | 1 |
| G protein-coupled receptor binding | 1 |
| glutamate receptor binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| synapse | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
984 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HOMER3 | SHANK1 | Q9Y566 | 917 |
| HOMER3 | GRM1 | Q13255 | 902 |
| HOMER3 | ITPR1 | Q14643 | 898 |
| HOMER3 | DLGAP1 | P78335 | 883 |
| HOMER3 | GRM5 | P41594 | 851 |
| HOMER3 | DLG4 | P78352 | 736 |
| HOMER3 | SHANK3 | Q9BYB0 | 712 |
| HOMER3 | SYNGAP1 | Q96PV0 | 664 |
| HOMER3 | ARHGAP26 | Q9UNA1 | 602 |
| HOMER3 | NCDN | Q9UBB6 | 595 |
| HOMER3 | ACTN1 | P12814 | 590 |
| HOMER3 | HOMER2 | Q9NSB8 | 587 |
| HOMER3 | SHANK2 | Q9UPX8 | 583 |
| HOMER3 | DNER | Q8NFT8 | 580 |
| HOMER3 | LGI1 | O95970 | 572 |
IntAct
415 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HOMER1 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.870 |
| MOS | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.790 |
| HOMER3 | MOS | psi-mi:“MI:0915”(physical association) | 0.790 |
| HOMER3 | PKN1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| EAF1 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HOMER3 | EAF1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PKN1 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HOMER3 | ABI2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ABI2 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| HOMER3 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| HOMER3 | EIF3D | psi-mi:“MI:0915”(physical association) | 0.720 |
| USP2 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOMER3 | PSMA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOMER3 | SNRPF | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOMER3 | PPP1R18 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EIF3D | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (213): HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER3 (Two-hybrid), HOMER1 (Two-hybrid), POM121 (Two-hybrid), ABI2 (Two-hybrid), NEBL (Two-hybrid), EAF1 (Two-hybrid), PPP1R18 (Two-hybrid)
ESM2 similar proteins: A0A0D1E2P6, A0A0D2XVZ5, A0A0P0VG31, A0A0P1AAU8, A0A287B8J2, A2WYG9, A4QP73, B9EHT4, B9F2Y7, D0NCC1, J9VKM5, O08788, O59739, P0C7L7, P0CP26, P0CP27, P14725, P28023, P39742, P82874, P92792, Q10MW6, Q13217, Q14203, Q149L6, Q27968, Q28I38, Q54M21, Q54NS3, Q58DR2, Q5JJI4, Q5JNB5, Q5R686, Q5R6H3, Q5ZI13, Q6PCJ1, Q6YUL8, Q7ZXQ8, Q8TBM8, Q91YW3
Diamond homologs: O88801, Q2KJ56, Q86YM7, Q99JP6, Q9NSB8, Q9NSC5, Q9QWW1, Q9Z214, Q9Z2X5, Q9Z2Y3, Q5TJ65, P50551, P70460, Q2TA49
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CAMK2A | “down-regulates activity” | HOMER3 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1281 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:18929493:G:C | donor_gain | 1.0000 |
| 19:18929570:T:TA | donor_gain | 1.0000 |
| 19:18929630:AGGTC:A | acceptor_gain | 1.0000 |
| 19:18929633:TC:T | acceptor_gain | 1.0000 |
| 19:18929634:CC:C | acceptor_gain | 1.0000 |
| 19:18929635:C:CC | acceptor_gain | 1.0000 |
| 19:18929640:A:T | acceptor_gain | 1.0000 |
| 19:18931409:CTC:C | acceptor_gain | 1.0000 |
| 19:18931504:CTCA:C | donor_loss | 1.0000 |
| 19:18931505:TCA:T | donor_loss | 1.0000 |
| 19:18931505:TCACC:T | donor_loss | 1.0000 |
| 19:18931506:CA:C | donor_loss | 1.0000 |
| 19:18931506:CAC:C | donor_loss | 1.0000 |
| 19:18931507:A:AC | donor_gain | 1.0000 |
| 19:18931507:ACCTG:A | donor_loss | 1.0000 |
| 19:18931508:C:A | donor_loss | 1.0000 |
| 19:18931508:C:CC | donor_gain | 1.0000 |
| 19:18931622:CCAC:C | acceptor_gain | 1.0000 |
| 19:18931623:CACC:C | acceptor_gain | 1.0000 |
| 19:18931624:ACC:A | acceptor_loss | 1.0000 |
| 19:18931625:CCTG:C | acceptor_loss | 1.0000 |
| 19:18931626:C:CA | acceptor_loss | 1.0000 |
| 19:18931626:C:CC | acceptor_gain | 1.0000 |
| 19:18931626:CTGTA:C | acceptor_loss | 1.0000 |
| 19:18931970:CCTCA:C | donor_loss | 1.0000 |
| 19:18931971:CTCA:C | donor_loss | 1.0000 |
| 19:18931972:TCACC:T | donor_loss | 1.0000 |
| 19:18931973:CAC:C | donor_loss | 1.0000 |
| 19:18931973:CACC:C | donor_loss | 1.0000 |
| 19:18931974:A:AC | donor_gain | 1.0000 |
AlphaMissense
2330 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:18934396:G:C | F106L | 1.000 |
| 19:18934396:G:T | F106L | 1.000 |
| 19:18934397:A:G | F106S | 1.000 |
| 19:18934398:A:G | F106L | 1.000 |
| 19:18934408:A:C | F102L | 1.000 |
| 19:18934408:A:T | F102L | 1.000 |
| 19:18934409:A:G | F102S | 1.000 |
| 19:18934410:A:G | F102L | 1.000 |
| 19:18938377:A:C | F93L | 1.000 |
| 19:18938377:A:T | F93L | 1.000 |
| 19:18938378:A:G | F93S | 1.000 |
| 19:18938379:A:G | F93L | 1.000 |
| 19:18938384:A:G | L91P | 1.000 |
| 19:18938384:A:T | L91Q | 1.000 |
| 19:18938387:C:T | G90D | 1.000 |
| 19:18938388:C:G | G90R | 1.000 |
| 19:18938391:A:C | Y89D | 1.000 |
| 19:18938393:A:T | V88D | 1.000 |
| 19:18938412:C:G | D82H | 1.000 |
| 19:18938416:C:A | W80C | 1.000 |
| 19:18938416:C:G | W80C | 1.000 |
| 19:18938417:C:G | W80S | 1.000 |
| 19:18938418:A:G | W80R | 1.000 |
| 19:18938418:A:T | W80R | 1.000 |
| 19:18938423:C:T | G78E | 1.000 |
| 19:18938424:C:A | G78W | 1.000 |
| 19:18938424:C:G | G78R | 1.000 |
| 19:18938424:C:T | G78R | 1.000 |
| 19:18938425:G:C | F77L | 1.000 |
| 19:18938425:G:T | F77L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000062098 (19:18928985 C>A), RS1000208428 (19:18936798 G>A), RS1000262151 (19:18936538 T>C), RS1000374083 (19:18930961 T>G), RS1000418128 (19:18934825 A>G), RS1000481184 (19:18941974 G>A), RS1000789075 (19:18934601 G>C), RS1000838409 (19:18939832 C>A,T), RS1000891583 (19:18931140 G>A), RS1000931303 (19:18940043 G>A), RS1001088873 (19:18940736 CAGT>C), RS1001243172 (19:18942289 C>A,G), RS1001540152 (19:18940565 G>A), RS1001720369 (19:18940488 C>A,T), RS1002072452 (19:18928992 A>C,G)
Disease associations
OMIM: gene MIM:604800 | disease phenotypes: MIM:614622
GenCC curated gene-disease
Mondo (1): keratoconus 5 (MONDO:0013830)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 3 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression, affects expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| methyleugenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| glycidyl methacrylate | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| arsenic disulfide | decreases expression | 1 |
| 2-palmitoylglycerol | 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 |
| abrine | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic Trioxide | affects reaction, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dactinomycin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Lithium | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 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): keratoconus 5