GNL1
gene geneOn this page
Also known as HSR1
Summary
GNL1 (G protein nucleolar 1, HGNC:4413) is a protein-coding gene on chromosome 6p21.33, encoding Guanine nucleotide-binding protein-like 1 (P36915). Possible regulatory or functional link with the histocompatibility cluster.
The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C.
Source: NCBI Gene 2794 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 78 total
- MANE Select transcript:
NM_005275
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4413 |
| Approved symbol | GNL1 |
| Name | G protein nucleolar 1 |
| Location | 6p21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSR1 |
| Ensembl gene | ENSG00000204590 |
| Ensembl biotype | protein_coding |
| OMIM | 143024 |
| Entrez | 2794 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron
ENST00000376621, ENST00000433809, ENST00000462708, ENST00000464231, ENST00000487166, ENST00000863388, ENST00000911424, ENST00000911425, ENST00000911426, ENST00000911427, ENST00000911428, ENST00000911429, ENST00000958484
RefSeq mRNA: 1 — MANE Select: NM_005275
NM_005275
CCDS: CCDS4680
Canonical transcript exons
ENST00000376621 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001644497 | 30552467 | 30552661 |
| ENSE00001648269 | 30546696 | 30546836 |
| ENSE00001657109 | 30555555 | 30555720 |
| ENSE00001664395 | 30555055 | 30555191 |
| ENSE00001670423 | 30554764 | 30554915 |
| ENSE00001680442 | 30553084 | 30553179 |
| ENSE00001769073 | 30554575 | 30554646 |
| ENSE00001932362 | 30541381 | 30546313 |
| ENSE00001952253 | 30556131 | 30556489 |
| ENSE00002206761 | 30553350 | 30553557 |
| ENSE00003518954 | 30547352 | 30547530 |
| ENSE00003616476 | 30547112 | 30547274 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 97.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.0773 / max 177.2784, expressed in 1820 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72531 | 7.2424 | 1763 |
| 72533 | 6.3806 | 1722 |
| 72530 | 5.7905 | 1684 |
| 72536 | 3.9924 | 1420 |
| 72534 | 3.1232 | 1420 |
| 72532 | 2.9651 | 1370 |
| 72529 | 0.5167 | 280 |
| 72535 | 0.0665 | 19 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 97.36 | gold quality |
| left testis | UBERON:0004533 | 97.34 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.21 | gold quality |
| left ovary | UBERON:0002119 | 96.88 | gold quality |
| ovary | UBERON:0000992 | 96.77 | gold quality |
| endocervix | UBERON:0000458 | 96.59 | gold quality |
| right ovary | UBERON:0002118 | 96.59 | gold quality |
| testis | UBERON:0000473 | 96.12 | gold quality |
| left uterine tube | UBERON:0001303 | 96.06 | gold quality |
| body of uterus | UBERON:0009853 | 95.96 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.95 | gold quality |
| thyroid gland | UBERON:0002046 | 95.95 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.91 | gold quality |
| ectocervix | UBERON:0012249 | 95.89 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.79 | gold quality |
| body of pancreas | UBERON:0001150 | 95.74 | gold quality |
| pituitary gland | UBERON:0000007 | 95.72 | gold quality |
| uterine cervix | UBERON:0000002 | 95.55 | gold quality |
| myometrium | UBERON:0001296 | 95.47 | gold quality |
| gall bladder | UBERON:0002110 | 95.28 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.24 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.20 | gold quality |
| placenta | UBERON:0001987 | 95.19 | gold quality |
| right lung | UBERON:0002167 | 95.17 | gold quality |
| pancreas | UBERON:0001264 | 95.05 | gold quality |
| fallopian tube | UBERON:0003889 | 95.05 | gold quality |
| right uterine tube | UBERON:0001302 | 94.83 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.82 | gold quality |
| prostate gland | UBERON:0002367 | 94.79 | gold quality |
| vagina | UBERON:0000996 | 94.78 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.17 |
| E-GEOD-75367 | no | 40.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR
miRNA regulators (miRDB)
127 targeting GNL1, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
Literature-anchored findings (GeneRIF, showing 4)
- The results demonstrated that multiple mechanisms are involved in the translocation of GNL1 to the nucleolus in a cell cycle-dependent manner to regulate cell growth and proliferation. (PMID:22244851)
- The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict Graves ophthalmology in a gender-dependent manner in patients with Graves Disease in Taiwan. (PMID:24908204)
- cross-talk between GNL1 and RPS20 is critical to promote cell proliferation. (PMID:30061673)
- Guanine nucleotide binding protein like-1 (GNL1) promotes cancer cell proliferation and survival through AKT/p21 (CIP1) signaling cascade. (PMID:33147101)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gnl1 | ENSDARG00000061789 |
| mus_musculus | Gnl1 | ENSMUSG00000024429 |
| rattus_norvegicus | Gnl1 | ENSRNOG00000000798 |
| drosophila_melanogaster | Ns4 | FBGN0032882 |
Paralogs (6): LSG1 (ENSG00000041802), NOA1 (ENSG00000084092), GNL3L (ENSG00000130119), GNL2 (ENSG00000134697), MTG1 (ENSG00000148824), GNL3 (ENSG00000163938)
Protein
Protein identifiers
Guanine nucleotide-binding protein-like 1 — P36915 (reviewed: P36915)
Alternative names: GTP-binding protein HSR1
All UniProt accessions (3): A0A024RCR2, A2AB27, P36915
UniProt curated annotations — full annotation on UniProt →
Function. Possible regulatory or functional link with the histocompatibility cluster.
Domain organisation. In contrast to other GTP-binding proteins, this family is characterized by a circular permutation of the GTPase motifs described by a G4-G1-G3 pattern.
Similarity. Belongs to the TRAFAC class YlqF/YawG GTPase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P36915-1 | 1 | yes |
| P36915-2 | 2 |
RefSeq proteins (1): NP_005266* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006073 | GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR030378 | G_CP_dom | Domain |
| IPR043358 | GNL1-like | Family |
Pfam: PF01926
UniProt features (27 total): modified residue 11, sequence conflict 4, compositionally biased region 3, binding site 3, region of interest 2, splice variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P36915-F1 | 77.41 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 225–228; 367–374; 411–415
Post-translational modifications (11): 32, 33, 34, 48, 50, 51, 68, 324, 561, 562, 563
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 153 (showing top):
ATF_B, CMYB_01, TTTGTAG_MIR520D, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, CREBP1_Q2, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, CREB_Q4, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, E4F1_Q6, GOBP_DNA_DAMAGE_RESPONSE, GOBP_ADAPTIVE_IMMUNE_RESPONSE, ATF3_Q6, CREB_Q2_01
GO Biological Process (3): T cell mediated immunity (GO:0002456), DNA damage response (GO:0006974), signal transduction (GO:0007165)
GO Molecular Function (4): GTPase activity (GO:0003924), structural molecule activity (GO:0005198), GTP binding (GO:0005525), nucleotide binding (GO:0000166)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lymphocyte mediated immunity | 1 |
| adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 1 |
| cellular response to stress | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| molecular_function | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2485 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GNL1 | EEF1A1 | P04719 | 970 |
| GNL1 | HSF1 | Q00613 | 839 |
| GNL1 | EEF1A2 | P54266 | 713 |
| GNL1 | HLA-E | P13747 | 620 |
| GNL1 | MITD1 | Q8WV92 | 540 |
| GNL1 | PPP1R11 | O60927 | 532 |
| GNL1 | BOP1 | Q14137 | 532 |
| GNL1 | C6orf136 | Q5SQH8 | 519 |
| GNL1 | TCF19 | Q9Y242 | 508 |
| GNL1 | GTPBP4 | Q9BZE4 | 481 |
| GNL1 | ABCF1 | Q8NE71 | 476 |
| GNL1 | SMCHD1 | A6NHR9 | 469 |
| GNL1 | HLA-C | P04222 | 464 |
| GNL1 | XPO1 | O14980 | 455 |
| GNL1 | PRKN | O60260 | 454 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| DYNC1I2 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.680 |
| SLC2A12 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHL40 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| WDCP | PAPSS1 | psi-mi:“MI:0914”(association) | 0.530 |
| ABCF2 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| GNL1 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.530 |
| GNL1 | FAU | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNL1 | HINT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FGB | NME2 | psi-mi:“MI:0914”(association) | 0.350 |
| TULP3 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.350 |
| DYNC1I2 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC116 | PAPSS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PAPSS1 | PAPSS2 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2B | OSBPL8 | psi-mi:“MI:0914”(association) | 0.350 |
| PGK1 | PRPF6 | psi-mi:“MI:0914”(association) | 0.350 |
| RACK1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| RPL19 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| RPL4 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| SRP14 | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
| FGB | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| PAPSS1 | ASMTL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (114): GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Co-fractionation), GNL1 (Affinity Capture-MS)
ESM2 similar proteins: A2VD13, A4D126, A5PK43, A6H751, A7E3N7, B0S6U7, B0S8I0, B5DFG1, D2GU20, E1BCH6, O75127, O75616, O95382, P36915, P36916, P48760, Q05932, Q2TBP8, Q2VPK5, Q3SZK4, Q3U269, Q3U5Q7, Q3V300, Q4R8D2, Q5E9Z1, Q5EBA0, Q5ND52, Q5QJC3, Q5R655, Q5RA07, Q5RJG7, Q5S6T3, Q5TM59, Q6MG06, Q7YR35, Q8C2E4, Q8CJ00, Q8JIF5, Q8K045, Q8NC60
Diamond homologs: A2XGQ1, A4SDB8, A5GR60, A5IMB8, A5N2K5, A5VWQ6, A6LT31, A8EXG4, A8GM60, A8GQS1, A8GUK6, A9KFU3, A9NDV6, B0JFL6, B0KG04, B1JFJ3, B1LBK5, B1X0B0, B2TPB6, B2UX10, B3EGV8, B3PN57, B3QQY9, B3WE42, B4S596, B6J7Q3, B7K1S0, B8GAY7, B8I8N7, B9K8C0, C3PMD9, C4K1B9, J9VQ03, O14236, O67679, O74791, P0CS94, P36915, P36916, P40010
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 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 |
|---|---|---|---|
| Formation of a pool of free 40S subunits | 5 | 11.4× | 2e-03 |
| L13a-mediated translational silencing of Ceruloplasmin expression | 5 | 10.3× | 2e-03 |
| SRP-dependent cotranslational protein targeting to membrane | 5 | 10.2× | 2e-03 |
| GTP hydrolysis and joining of the 60S ribosomal subunit | 5 | 10.2× | 2e-03 |
| mRNA Splicing - Major Pathway | 6 | 6.7× | 4e-03 |
| Translation | 5 | 6.3× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 5 | 34.0× | 1e-04 |
| cytoplasmic translation | 6 | 18.8× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
78 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1809 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:30546692:TGACC:T | donor_loss | 1.0000 |
| 6:30546695:CCTTT:C | donor_gain | 1.0000 |
| 6:30546711:AG:A | donor_gain | 1.0000 |
| 6:30546832:CCAGG:C | acceptor_gain | 1.0000 |
| 6:30546833:CAGG:C | acceptor_gain | 1.0000 |
| 6:30546833:CAGGC:C | acceptor_gain | 1.0000 |
| 6:30546834:AGG:A | acceptor_gain | 1.0000 |
| 6:30546835:GG:G | acceptor_gain | 1.0000 |
| 6:30546837:C:CC | acceptor_gain | 1.0000 |
| 6:30547108:TCAC:T | donor_loss | 1.0000 |
| 6:30547111:C:CA | donor_loss | 1.0000 |
| 6:30547271:GAAC:G | acceptor_gain | 1.0000 |
| 6:30547272:AAC:A | acceptor_gain | 1.0000 |
| 6:30547273:AC:A | acceptor_gain | 1.0000 |
| 6:30547274:CC:C | acceptor_gain | 1.0000 |
| 6:30547275:C:CC | acceptor_gain | 1.0000 |
| 6:30552662:C:CC | acceptor_gain | 1.0000 |
| 6:30553180:C:CC | acceptor_gain | 1.0000 |
| 6:30553187:C:CT | acceptor_gain | 1.0000 |
| 6:30553188:A:T | acceptor_gain | 1.0000 |
| 6:30553349:CCA:C | donor_gain | 1.0000 |
| 6:30553443:T:TA | donor_gain | 1.0000 |
| 6:30554566:AGTAC:A | donor_loss | 1.0000 |
| 6:30554567:GTACT:G | donor_loss | 1.0000 |
| 6:30554568:TAC:T | donor_loss | 1.0000 |
| 6:30554569:ACT:A | donor_loss | 1.0000 |
| 6:30554570:CTC:C | donor_loss | 1.0000 |
| 6:30554571:TC:T | donor_loss | 1.0000 |
| 6:30554572:CA:C | donor_loss | 1.0000 |
| 6:30554573:A:AC | donor_gain | 1.0000 |
AlphaMissense
3920 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:30547116:A:C | C479W | 1.000 |
| 6:30547117:C:T | C479Y | 1.000 |
| 6:30554631:A:G | W182R | 1.000 |
| 6:30554631:A:T | W182R | 1.000 |
| 6:30554643:A:G | W178R | 1.000 |
| 6:30554643:A:T | W178R | 1.000 |
| 6:30546773:G:T | A502D | 0.999 |
| 6:30546776:G:T | A501E | 0.999 |
| 6:30546778:T:A | R500S | 0.999 |
| 6:30546778:T:G | R500S | 0.999 |
| 6:30546779:C:A | R500I | 0.999 |
| 6:30546779:C:G | R500T | 0.999 |
| 6:30546789:C:G | D497H | 0.999 |
| 6:30546831:C:G | A483P | 0.999 |
| 6:30547118:A:G | C479R | 0.999 |
| 6:30547390:C:G | G414R | 0.999 |
| 6:30547394:G:C | C412W | 0.999 |
| 6:30547397:G:C | D411E | 0.999 |
| 6:30547397:G:T | D411E | 0.999 |
| 6:30547398:T:A | D411V | 0.999 |
| 6:30547398:T:C | D411G | 0.999 |
| 6:30547398:T:G | D411A | 0.999 |
| 6:30547452:C:T | G393D | 0.999 |
| 6:30547453:C:G | G393R | 0.999 |
| 6:30547512:T:A | K373M | 0.999 |
| 6:30547515:C:T | G372E | 0.999 |
| 6:30553446:A:G | W238R | 0.999 |
| 6:30553446:A:T | W238R | 0.999 |
| 6:30553480:C:A | K226N | 0.999 |
| 6:30553480:C:G | K226N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1001394831 (6:30558297 A>G), RS1001406535 (6:30551937 A>T), RS1001418217 (6:30544101 G>A), RS1001476892 (6:30543792 C>T), RS1002401263 (6:30544412 C>A,G,T), RS1002778126 (6:30544135 T>C), RS1002809569 (6:30554593 G>A), RS1003065219 (6:30548130 T>C), RS1003388554 (6:30553317 C>A,T), RS1003475422 (6:30557932 A>G), RS1003755192 (6:30549881 T>C,G), RS1003764487 (6:30542553 G>T), RS1003809864 (6:30546441 A>T), RS1003818499 (6:30542122 C>G,T), RS1003872791 (6:30545417 C>T)
Disease associations
OMIM: gene MIM:143024 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_121 | Autism spectrum disorder or schizophrenia | 3.000000e-13 |
| GCST004521_132 | Autism spectrum disorder or schizophrenia | 2.000000e-09 |
| GCST004521_171 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_2 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_210 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_263 | Autism spectrum disorder or schizophrenia | 7.000000e-17 |
| GCST004521_265 | Autism spectrum disorder or schizophrenia | 7.000000e-14 |
| GCST004521_269 | Autism spectrum disorder or schizophrenia | 7.000000e-11 |
| GCST004521_295 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_3 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_56 | Autism spectrum disorder or schizophrenia | 1.000000e-22 |
| GCST004521_70 | Autism spectrum disorder or schizophrenia | 8.000000e-20 |
| GCST004521_79 | Autism spectrum disorder or schizophrenia | 1.000000e-16 |
| GCST004748_102 | Lung cancer | 2.000000e-18 |
| GCST004750_52 | Squamous cell lung carcinoma | 5.000000e-14 |
| GCST005232_23 | Neuroticism | 8.000000e-09 |
| GCST005790_55 | Rosacea symptom severity | 2.000000e-06 |
| GCST006041_32 | Major depressive disorder | 1.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007660 | neuroticism measurement |
| EFO:0009180 | rosacea severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases methylation | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phthalic Acids | increases methylation | 1 |
| Quercetin | increases phosphorylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases 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.