RSRC2
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Also known as FLJ11021
Summary
RSRC2 (arginine and serine rich coiled-coil 2, HGNC:30559) is a protein-coding gene on chromosome 12q24.31, encoding Arginine/serine-rich coiled-coil protein 2 (Q7L4I2). It is a selective cancer dependency (DepMap: 38.4% of cell lines).
Enables RNA binding activity.
Source: NCBI Gene 65117 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 58 total — 1 likely-pathogenic
- Phenotypes (HPO): 2
- Cancer dependency (DepMap): dependent in 38.4% of screened cell lines
- MANE Select transcript:
NM_023012
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30559 |
| Approved symbol | RSRC2 |
| Name | arginine and serine rich coiled-coil 2 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11021 |
| Ensembl gene | ENSG00000111011 |
| Ensembl biotype | protein_coding |
| OMIM | 619996 |
| Entrez | 65117 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 9 protein_coding, 8 retained_intron, 4 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay
ENST00000331738, ENST00000344591, ENST00000392442, ENST00000433877, ENST00000524399, ENST00000525332, ENST00000525335, ENST00000525387, ENST00000525570, ENST00000526560, ENST00000527173, ENST00000527399, ENST00000527461, ENST00000527796, ENST00000528263, ENST00000528279, ENST00000531389, ENST00000531639, ENST00000532186, ENST00000532695, ENST00000868444, ENST00000868445, ENST00000868446, ENST00000868447, ENST00000868448
RefSeq mRNA: 1 — MANE Select: NM_023012
NM_023012
CCDS: CCDS31920
Canonical transcript exons
ENST00000331738 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002204725 | 122503454 | 122505706 |
| ENSE00002209590 | 122526848 | 122526936 |
| ENSE00003467794 | 122511109 | 122511188 |
| ENSE00003526616 | 122522143 | 122522299 |
| ENSE00003554697 | 122508218 | 122508447 |
| ENSE00003566004 | 122521385 | 122521428 |
| ENSE00003615721 | 122515105 | 122515227 |
| ENSE00003625848 | 122506834 | 122506923 |
| ENSE00003645836 | 122518839 | 122519029 |
| ENSE00003668353 | 122517227 | 122517430 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 86.2401 / max 2225.2403, expressed in 1825 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133835 | 77.9178 | 1824 |
| 133836 | 4.2634 | 1455 |
| 133831 | 1.8175 | 731 |
| 133829 | 0.8849 | 460 |
| 133834 | 0.5683 | 145 |
| 133830 | 0.5199 | 200 |
| 133832 | 0.1411 | 41 |
| 133833 | 0.1272 | 44 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 99.08 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.94 | gold quality |
| ventricular zone | UBERON:0003053 | 98.82 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.50 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.95 | gold quality |
| tendon | UBERON:0000043 | 97.78 | gold quality |
| embryo | UBERON:0000922 | 97.78 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.66 | gold quality |
| cortical plate | UBERON:0005343 | 97.59 | gold quality |
| sperm | CL:0000019 | 97.46 | gold quality |
| right lung | UBERON:0002167 | 97.45 | gold quality |
| left ovary | UBERON:0002119 | 97.41 | gold quality |
| skin of hip | UBERON:0001554 | 97.31 | gold quality |
| tibial nerve | UBERON:0001323 | 97.30 | gold quality |
| bone marrow | UBERON:0002371 | 97.24 | gold quality |
| right ovary | UBERON:0002118 | 97.23 | gold quality |
| body of uterus | UBERON:0009853 | 97.21 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.17 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.14 | gold quality |
| male germ cell | CL:0000015 | 97.13 | gold quality |
| popliteal artery | UBERON:0002250 | 97.04 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.04 | gold quality |
| tibial artery | UBERON:0007610 | 97.04 | gold quality |
| rectum | UBERON:0001052 | 97.03 | gold quality |
| endocervix | UBERON:0000458 | 97.02 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.02 | gold quality |
| thyroid gland | UBERON:0002046 | 97.02 | gold quality |
| ectocervix | UBERON:0012249 | 97.02 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.98 | gold quality |
| right uterine tube | UBERON:0001302 | 96.95 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-31 | yes | 2878.93 |
| E-MTAB-8495 | yes | 2613.74 |
| E-CURD-89 | no | 832.00 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SRSF1, SRSF2
miRNA regulators (miRDB)
62 targeting RSRC2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 38.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- RSRC2 might play a role in cell proliferation and progression of esophageal cancer (PMID:17203224)
- our findings suggest that paclitaxel targets the TRA2A-RSRC2 splicing pathway, and deregulated TRA2A and RSRC2 expression may confer paclitaxel resistance. In addition, our study demonstrates that expression of TRA2A in conjunction with RSRC2 may provide valuable molecular biomarker evidence for triple-negative breast cancer (TNBC)clinical treatment decisions and patient outcome (PMID:28416606)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rsrc2 | ENSDARG00000042534 |
| mus_musculus | Rsrc2 | ENSMUSG00000029422 |
| rattus_norvegicus | Rsrc2 | ENSRNOG00000001238 |
Paralogs (8): SRSF5 (ENSG00000100650), SRSF9 (ENSG00000111786), SRSF3 (ENSG00000112081), SRSF7 (ENSG00000115875), SRSF4 (ENSG00000116350), RSRP1 (ENSG00000117616), SRSF6 (ENSG00000124193), SRSF1 (ENSG00000136450)
Protein
Protein identifiers
Arginine/serine-rich coiled-coil protein 2 — Q7L4I2 (reviewed: Q7L4I2)
All UniProt accessions (6): Q7L4I2, E1B6W4, E9PI52, F5GYD2, F5H1Z2, H0YGP9
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the RSRC2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7L4I2-1 | 1 | yes |
| Q7L4I2-2 | 2 |
RefSeq proteins (1): NP_075388* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028124 | SMAP_dom | Domain |
Pfam: PF15477
UniProt features (22 total): modified residue 9, compositionally biased region 4, cross-link 2, initiator methionine 1, chain 1, splice variant 1, region of interest 1, sequence variant 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L4I2-F1 | 55.71 | 0.02 |
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 (11): 6, 16, 17, 30, 32, 104, 376, 375, 375, 2, 4
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 151 (showing top):
E2F_Q4_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GGGTGGRR_PAX4_03, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GTGCCTT_MIR506, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, AACTTT_UNKNOWN, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, GNF2_DDX5, TGCCTTA_MIR124A, GCCATNTTG_YY1_Q6, CHEN_HOXA5_TARGETS_9HR_UP
GO Biological Process (0):
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 1 |
| binding | 1 |
Protein interactions and networks
STRING
1208 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RSRC2 | KNTC1 | P50748 | 676 |
| RSRC2 | TRA2A | Q13595 | 541 |
| RSRC2 | RSRC1 | Q96IZ7 | 533 |
| RSRC2 | FIZ1 | Q96SL8 | 518 |
| RSRC2 | MIER2 | Q8N344 | 497 |
| RSRC2 | RCOR3 | Q9P2K3 | 460 |
| RSRC2 | TMEM186 | Q96B77 | 455 |
| RSRC2 | PRKCSH | P14314 | 425 |
| RSRC2 | ZMAT5 | Q9UDW3 | 420 |
| RSRC2 | ZMYND19 | Q96E35 | 411 |
| RSRC2 | PSMB5 | P28074 | 406 |
| RSRC2 | ILRUN | Q9H6K1 | 401 |
| RSRC2 | FAM76B | Q5HYJ3 | 400 |
| RSRC2 | ZNF277 | Q9NRM2 | 391 |
| RSRC2 | TMEM258 | P61165 | 382 |
IntAct
204 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| MED20 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| RSRC2 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.690 |
| FOXK2 | DVL2 | psi-mi:“MI:0914”(association) | 0.640 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| RSRC2 | APBA1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| CTAG1A | RSRC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RSRC2 | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RSRC2 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AKAP9 | RSRC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RSRC2 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAMD4B | RSRC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RSRC2 | NAV1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POT1 | TERF1 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| RSRC2 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| RSRC2 | NOS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | LIN7C | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | NHERF4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | RSRC2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | MPP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | LNX1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | TIAM2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | LIN7B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RSRC2 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SNTB1 | RSRC2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (85): RSRC2 (Two-hybrid), RSRC2 (Two-hybrid), RSRC2 (Two-hybrid), RSRC2 (Two-hybrid), RSRC2 (Two-hybrid), RSRC2 (Two-hybrid), CMTM5 (Two-hybrid), CCDC155 (Two-hybrid), RSRC2 (Affinity Capture-RNA), RSRC2 (Affinity Capture-MS), RSRC2 (Proximity Label-MS), RSRC2 (Affinity Capture-MS), RSRC2 (Affinity Capture-MS), RSRC2 (Affinity Capture-MS), RSRC2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, G2TRQ9, O14256, O55035, P30189, P30414, P41512, Q04750, Q07050, Q13427, Q27450, Q28EE8, Q3KPW4, Q4V9W2, Q505I5, Q59LQ5, Q5BKY9, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6BNE1, Q6NQD9, Q6NWI1, Q6ZUT1, Q751P0, Q7L4I2, Q7YR26, Q80SY5, Q8GWY0, Q8N9E0, Q8N9Q2, Q8R0F5
Diamond homologs: A2RTL5, A6QLS2, Q5PQR4, Q5R8J6, Q5XHJ5, Q6NWI1, Q7L4I2, Q7ZYR8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 160 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 |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 26.9× | 9e-05 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 25.6× | 9e-05 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 25.6× | 9e-05 |
| Assembly and cell surface presentation of NMDA receptors | 10 | 23.9× | 2e-09 |
| Dopamine Neurotransmitter Release Cycle | 5 | 23.4× | 1e-04 |
| Long-term potentiation | 5 | 22.4× | 1e-04 |
| Neurexins and neuroligins | 11 | 20.4× | 2e-09 |
| Protein-protein interactions at synapses | 7 | 17.5× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 39.0× | 3e-11 |
| protein localization to synapse | 6 | 30.9× | 7e-06 |
| receptor clustering | 7 | 29.3× | 1e-06 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 25.7× | 1e-04 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 20.0× | 5e-05 |
| RNA polymerase II preinitiation complex assembly | 5 | 9.1× | 1e-02 |
| cell-cell adhesion | 11 | 7.5× | 5e-05 |
| protein-containing complex assembly | 8 | 6.1× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 37 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 242899 | NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) | Likely pathogenic |
SpliceAI
1940 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:122505703:CACT:C | acceptor_gain | 1.0000 |
| 12:122505705:CT:C | acceptor_gain | 1.0000 |
| 12:122505706:TC:T | acceptor_loss | 1.0000 |
| 12:122505707:C:A | acceptor_loss | 1.0000 |
| 12:122505707:C:CC | acceptor_gain | 1.0000 |
| 12:122505707:C:G | acceptor_gain | 1.0000 |
| 12:122508213:CTTA:C | donor_loss | 1.0000 |
| 12:122508214:TTA:T | donor_loss | 1.0000 |
| 12:122508215:TA:T | donor_loss | 1.0000 |
| 12:122508216:A:AC | donor_gain | 1.0000 |
| 12:122508216:AC:A | donor_gain | 1.0000 |
| 12:122508216:ACC:A | donor_gain | 1.0000 |
| 12:122508216:ACCC:A | donor_gain | 1.0000 |
| 12:122508217:C:CC | donor_gain | 1.0000 |
| 12:122508217:CC:C | donor_gain | 1.0000 |
| 12:122508217:CCC:C | donor_gain | 1.0000 |
| 12:122508217:CCCC:C | donor_gain | 1.0000 |
| 12:122508217:CCCCT:C | donor_gain | 1.0000 |
| 12:122508448:CTG:C | acceptor_gain | 1.0000 |
| 12:122508451:C:CC | acceptor_gain | 1.0000 |
| 12:122508452:T:C | acceptor_gain | 1.0000 |
| 12:122508452:T:TC | acceptor_gain | 1.0000 |
| 12:122511186:AACCT:A | acceptor_loss | 1.0000 |
| 12:122515120:T:TA | donor_gain | 1.0000 |
| 12:122515226:CT:C | acceptor_gain | 1.0000 |
| 12:122515228:C:CC | acceptor_gain | 1.0000 |
| 12:122517221:ACCT:A | donor_loss | 1.0000 |
| 12:122517222:CCTA:C | donor_loss | 1.0000 |
| 12:122517223:CTAC:C | donor_loss | 1.0000 |
| 12:122517225:A:AC | donor_gain | 1.0000 |
AlphaMissense
2831 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:122505560:G:C | F424L | 1.000 |
| 12:122505560:G:T | F424L | 1.000 |
| 12:122505561:A:G | F424S | 1.000 |
| 12:122505562:A:G | F424L | 1.000 |
| 12:122505564:C:T | G423D | 1.000 |
| 12:122505565:C:A | G423C | 1.000 |
| 12:122505565:C:G | G423R | 1.000 |
| 12:122505567:A:G | L422S | 1.000 |
| 12:122505570:C:T | G421D | 1.000 |
| 12:122505571:C:A | G421C | 1.000 |
| 12:122505571:C:G | G421R | 1.000 |
| 12:122505576:C:T | G419E | 1.000 |
| 12:122505577:C:G | G419R | 1.000 |
| 12:122505577:C:T | G419R | 1.000 |
| 12:122505578:T:A | R418S | 1.000 |
| 12:122505578:T:G | R418S | 1.000 |
| 12:122505579:C:A | R418I | 1.000 |
| 12:122505579:C:G | R418T | 1.000 |
| 12:122505587:G:C | H415Q | 1.000 |
| 12:122505587:G:T | H415Q | 1.000 |
| 12:122505588:T:C | H415R | 1.000 |
| 12:122505588:T:G | H415P | 1.000 |
| 12:122505589:G:C | H415D | 1.000 |
| 12:122505589:G:T | H415N | 1.000 |
| 12:122505591:G:A | T414I | 1.000 |
| 12:122505594:T:G | Q413P | 1.000 |
| 12:122505598:A:G | S412P | 1.000 |
| 12:122505599:T:A | R411S | 1.000 |
| 12:122505599:T:G | R411S | 1.000 |
| 12:122505600:C:A | R411I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000079184 (12:122523376 A>G,T), RS1000098248 (12:122514656 G>A,T), RS1000234036 (12:122504318 G>A,T), RS1000260379 (12:122504177 C>G), RS1000267637 (12:122528040 CAT>C), RS1000327871 (12:122504561 G>A,T), RS1000513300 (12:122508909 T>A), RS1000599295 (12:122505273 T>C), RS1001008639 (12:122527046 A>G), RS1001240146 (12:122508513 T>C), RS1001265984 (12:122503113 A>C,G), RS1001403463 (12:122505712 A>T), RS1001428720 (12:122519750 C>A,G), RS1001530596 (12:122522667 C>G), RS1001670479 (12:122515004 G>A,C)
Disease associations
OMIM: gene MIM:619996 | disease phenotypes: MIM:160700
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | Autosomal dominant |
Mondo (4): myopia (MONDO:0001384), strabismus (MONDO:0003432), obesity disorder (MONDO:0011122), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (2): Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), NON RARE IN EUROPE: Non rare obesity (Orphanet:521399)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000545 | Myopia |
| HP:0001513 | Obesity |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90020025_123 | Waist-to-hip ratio adjusted for BMI | 4.000000e-08 |
| GCST90020028_1245 | Hip circumference adjusted for BMI | 5.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009216 | Myopia | C11.744.636 |
| D013285 | Strabismus | C10.292.562.887; C11.590.810 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
69 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | affects expression, decreases expression, decreases methylation, increases expression | 4 |
| Cisplatin | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| graphene oxide | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| chloropicrin | 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 |
| 14-deoxy-11,12-didehydroandrographolide | increases expression | 1 |
| abrine | increases expression | 1 |
Clinical trials (associated diseases)
302 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00347204 | PHASE4 | COMPLETED | Comparison of Acular LS Versus Nevanac for Pain Control in Eyes Undergoing PRK |
| NCT00349843 | PHASE4 | COMPLETED | Investigation of Multi-Purpose Solution-Based Corneal Staining and Ocular Comfort |
| NCT00349882 | PHASE4 | COMPLETED | Effects of Contact Lens Care Regimens on the Corneal Epithelium |
| NCT00350246 | PHASE4 | COMPLETED | Long-term Effects of Laser Refractive Surgery |
| NCT00404105 | PHASE4 | COMPLETED | A Comparison of PRK and LASIK for Correction of Myopia |
| NCT00455455 | PHASE4 | COMPLETED | Corneal and Conjunctival Sensitivity and Staining Study |
| NCT00541177 | PHASE4 | UNKNOWN | Study of Myopia Prevention in Children With Low Concentration of Atropine |
| NCT00627302 | PHASE4 | COMPLETED | Efficacy of PEG-400 and Systane Artificial Tears (Alcon) on Quality of Vision |
| NCT00640341 | PHASE4 | COMPLETED | Comparative Performance of PureVision, Acuvue Oasys and O2Optix |
| NCT00770094 | PHASE4 | UNKNOWN | Multi Laser Platform Comparison Study for LASIK |
| NCT00821236 | PHASE4 | COMPLETED | Contralateral Comparison of Three Excimer Laser Systems in Performing LASIK |
| NCT00889941 | PHASE4 | COMPLETED | Effect of Preoperative Pupil Size on Quality of Vision After Wavefront-Guided LASIK |
| NCT00937105 | PHASE4 | COMPLETED | Daily Wear Corneal Infiltrative Event Study |
| NCT01173198 | PHASE4 | COMPLETED | An Evaluation of Outcomes Following Wavefront Optimized or Wavefront Guided Lasik Procedure in Low to Moderate Myopic Patients |
| NCT01250925 | PHASE4 | COMPLETED | Effect of Contact Lens Wear on Immune Cell Density and Morphology of the Ocular Surface |
| NCT01387360 | PHASE4 | COMPLETED | Presbyopic Supracor Treatment for Near Myopic/Hyperopic Pseudophakic Eyes |
| NCT01454843 | PHASE4 | COMPLETED | LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser vs AMO Visx Wavefront-Guided Excimer Laser |
| NCT01693939 | PHASE4 | COMPLETED | Evaluation of the Post-LASIK Flap Thickness of the FS200 Femtosecond Laser Flap |
| NCT01706237 | PHASE4 | WITHDRAWN | Visual Outcomes And Contrast Sensitivity After Myopic Wavefront-Optimized Lasik With Nexisvision Shield Or Bandage Contact Lens |
| NCT01746589 | PHASE4 | COMPLETED | Visual Outcomes and Contrast Sensitivity After Myopic LASIK |
| NCT01977807 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK |
| NCT02071576 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK |
| NCT02112968 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia |
| NCT02186184 | PHASE4 | COMPLETED | Effect of Orthokeratology Versus Spectacles on Myopia Progression in Chinese Children: A Crossover Trial |
| NCT02544529 | PHASE4 | WITHDRAWN | Echothiophate Iodide for the Prevention of Progression of Myopia |
| NCT03001401 | PHASE4 | UNKNOWN | Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE |
| NCT03158142 | PHASE4 | COMPLETED | The Influence of Atropine on Choroidal Thickness |
| NCT03544827 | PHASE4 | COMPLETED | The Effects of Low Dose Atropine on Choroidal Thickness |
| NCT03881670 | PHASE4 | COMPLETED | On-Eye Optical Quality of Lotrafilcon B Lenses Over 12 Hours |
| NCT03949101 | PHASE4 | UNKNOWN | Atropine for Children and Adolescent Myopia Progression Study |
| NCT04208750 | PHASE4 | COMPLETED | Clinical Investigation of the Vision-R800 Device. |
| NCT04283331 | PHASE4 | UNKNOWN | Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK) |
| NCT05357326 | PHASE4 | UNKNOWN | Myopia Intervention in Children and Adolescents and Establishment of a Precise Intervention Model |
| NCT05448989 | PHASE4 | UNKNOWN | Efficacy and Safety of 1% Atropine 5+3 Regimen in Children and Adolescents Controlling Myopia |
| NCT05449015 | PHASE4 | UNKNOWN | Study on the Effect of Two Ways of Cycloplegia on Biological Parameters of Ciliary Muscle |
| NCT05733741 | PHASE4 | COMPLETED | Preservative-free Topical Anesthetics for Post-PRK Pain |
| NCT05803863 | PHASE4 | UNKNOWN | Efficacy Comparison of 2 Low-dose Atropine Eye Drops in Vietnamese Children Myopia Management |
| NCT06431841 | PHASE4 | ACTIVE_NOT_RECRUITING | Atropine and Spectacle Combination Treatment (ASPECT): 12-month Results of a Randomized Clinical Trial for Myopia Control |
| NCT06450132 | PHASE4 | ACTIVE_NOT_RECRUITING | Changes in Eye Shape With Myopia Management Interventions |
| NCT06553404 | PHASE4 | ACTIVE_NOT_RECRUITING | Myoslow Lens Study to Control Myopia in Children |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myopia, strabismus