SRBD1
geneOn this page
Also known as FLJ10379
Summary
SRBD1 (S1 RNA binding domain 1, HGNC:25521) is a protein-coding gene on chromosome 2p21, encoding S1 RNA-binding domain-containing protein 1 (Q8N5C6). DNA- and histone-binding protein that localizes to the central axes of mitotic chromosomes. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
Predicted to enable mRNA binding activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in translation.
Source: NCBI Gene 55133 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 195 total
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_018079
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25521 |
| Approved symbol | SRBD1 |
| Name | S1 RNA binding domain 1 |
| Location | 2p21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10379 |
| Ensembl gene | ENSG00000068784 |
| Ensembl biotype | protein_coding |
| Entrez | 55133 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding_CDS_not_defined, 2 protein_coding
ENST00000263736, ENST00000461805, ENST00000475073, ENST00000490133, ENST00000493649, ENST00000922966
RefSeq mRNA: 1 — MANE Select: NM_018079
NM_018079
CCDS: CCDS1823
Canonical transcript exons
ENST00000263736 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000750903 | 45476993 | 45477075 |
| ENSE00000809785 | 45573207 | 45573342 |
| ENSE00001005792 | 45601903 | 45602083 |
| ENSE00001168815 | 45388680 | 45389599 |
| ENSE00001168825 | 45574627 | 45574723 |
| ENSE00001169403 | 45599449 | 45599835 |
| ENSE00001346089 | 45579875 | 45580013 |
| ENSE00001346093 | 45581693 | 45581810 |
| ENSE00001346095 | 45585608 | 45585774 |
| ENSE00001346110 | 45611219 | 45611267 |
| ENSE00003485772 | 45605362 | 45605441 |
| ENSE00003488067 | 45553623 | 45553730 |
| ENSE00003491896 | 45413114 | 45413293 |
| ENSE00003495723 | 45392945 | 45393129 |
| ENSE00003544055 | 45547522 | 45547612 |
| ENSE00003553851 | 45488240 | 45488331 |
| ENSE00003625240 | 45419788 | 45419894 |
| ENSE00003638927 | 45546732 | 45546839 |
| ENSE00003657505 | 45562653 | 45562756 |
| ENSE00003671817 | 45418365 | 45418541 |
| ENSE00003694516 | 45551125 | 45551282 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 89.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8930 / max 234.2335, expressed in 1778 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 28180 | 11.7225 | 1773 |
| 28175 | 0.8981 | 263 |
| 28176 | 0.2724 | 124 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.38 | gold quality |
| monocyte | CL:0000576 | 86.96 | gold quality |
| mononuclear cell | CL:0000842 | 86.62 | gold quality |
| leukocyte | CL:0000738 | 86.33 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.21 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.57 | gold quality |
| ventricular zone | UBERON:0003053 | 84.52 | gold quality |
| corpus epididymis | UBERON:0004359 | 83.32 | gold quality |
| rectum | UBERON:0001052 | 81.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.72 | gold quality |
| blood | UBERON:0000178 | 80.46 | gold quality |
| tendon | UBERON:0000043 | 80.23 | gold quality |
| pancreas | UBERON:0001264 | 80.22 | gold quality |
| sural nerve | UBERON:0015488 | 79.93 | gold quality |
| granulocyte | CL:0000094 | 79.49 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.38 | gold quality |
| adrenal tissue | UBERON:0018303 | 78.96 | gold quality |
| body of pancreas | UBERON:0001150 | 78.87 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 77.98 | silver quality |
| gall bladder | UBERON:0002110 | 76.98 | gold quality |
| bone marrow cell | CL:0002092 | 76.80 | gold quality |
| ectocervix | UBERON:0012249 | 76.21 | gold quality |
| popliteal artery | UBERON:0002250 | 76.15 | gold quality |
| tibial artery | UBERON:0007610 | 76.15 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 75.86 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 75.80 | gold quality |
| secondary oocyte | CL:0000655 | 75.79 | gold quality |
| colonic epithelium | UBERON:0000397 | 75.73 | gold quality |
| caput epididymis | UBERON:0004358 | 75.68 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting SRBD1, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- Our genome-wide association study identified SRBD1 and ELOVL5 as new susceptibility genes for (normal tension glaucoma) NTG. (PMID:20363506)
- Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. (PMID:24040232)
- rs3213787 and rs11884064 not associated with genetic susceptibility to normal-tension glaucoma in a Korean cohort (PMID:32569157)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | srbd1 | ENSDARG00000079827 |
| danio_rerio | srbd1 | ENSDARG00000092855 |
| mus_musculus | Srbd1 | ENSMUSG00000024135 |
| rattus_norvegicus | Srbd1 | ENSRNOG00000014720 |
| drosophila_melanogaster | CG31156 | FBGN0051156 |
| caenorhabditis_elegans | ZK973.1 | WBGENE00022830 |
Protein
Protein identifiers
S1 RNA-binding domain-containing protein 1 — Q8N5C6 (reviewed: Q8N5C6)
All UniProt accessions (1): Q8N5C6
UniProt curated annotations — full annotation on UniProt →
Function. DNA- and histone-binding protein that localizes to the central axes of mitotic chromosomes. Promotes chromosome segregation by facilitating TOP2A recruitment to mitotic chromosomes, thereby preventing anaphase failure. During prophase, safeguards the decatenation process to avoid the formation of difficult-to-resolve DNA structures, preventing chromosome missegregation. Also contributes to the regulation of nucleus pulposus cell senescence.
Subunit / interactions. Interacts with NBR1; this interaction clears SRBD1 through the autophagic-lysosomal pathway.
Subcellular location. Nucleus. Nucleolus. Cytoplasm. Chromosome.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N5C6-1 | 1 | yes |
| Q8N5C6-2 | 2 |
RefSeq proteins (1): NP_060549* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003029 | S1_domain | Domain |
| IPR006641 | YqgF/RNaseH-like_dom | Domain |
| IPR010994 | RuvA_2-like | Homologous_superfamily |
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR018974 | Tex-like_N | Domain |
| IPR023319 | Tex-like_HTH_dom_sf | Homologous_superfamily |
| IPR023323 | Tex-like_dom_sf | Homologous_superfamily |
| IPR032639 | Tex_YqgF | Domain |
| IPR037027 | YqgF/RNaseH-like_dom_sf | Homologous_superfamily |
| IPR041692 | HHH_9 | Domain |
| IPR044146 | S1_Tex | Domain |
| IPR050437 | Ribos_protein_bS1-like | Family |
| IPR055179 | Tex-like_central_region | Domain |
Pfam: PF00575, PF09371, PF12836, PF16921, PF17674, PF22706
UniProt features (23 total): cross-link 8, sequence variant 3, sequence conflict 3, region of interest 2, modified residue 2, chain 1, domain 1, splice variant 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N5C6-F1 | 75.68 | 0.52 |
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 (10): 166, 167, 183, 185, 185, 955, 861, 964, 84, 134
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 105 (showing top):
GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, AACTTT_UNKNOWN, NUYTTEN_EZH2_TARGETS_DN, SCGGAAGY_ELK1_02, GOMF_MRNA_BINDING, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, ELK1_02, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, ATF5_TARGET_GENES, ELF2_TARGET_GENES, FOXE1_TARGET_GENES, HES2_TARGET_GENES, KAT5_TARGET_GENES, MAFG_TARGET_GENES
GO Biological Process (2): nucleobase-containing compound metabolic process (GO:0006139), translation (GO:0006412)
GO Molecular Function (4): mRNA binding (GO:0003729), structural constituent of ribosome (GO:0003735), nucleic acid binding (GO:0003676), RNA binding (GO:0003723)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| primary metabolic process | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| RNA binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| nucleic acid binding | 1 |
Protein interactions and networks
STRING
1932 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SRBD1 | TMCO1 | Q9UM00 | 613 |
| SRBD1 | SIX1 | Q15475 | 606 |
| SRBD1 | ASB10 | Q8WXI3 | 573 |
| SRBD1 | ELOVL5 | Q9NYP7 | 571 |
| SRBD1 | MYOC | Q99972 | 549 |
| SRBD1 | WDR36 | Q8NI36 | 530 |
| SRBD1 | SIX6 | O95475 | 507 |
| SRBD1 | ATOH7 | Q8N100 | 505 |
| SRBD1 | ZNF362 | Q5T0B9 | 490 |
| SRBD1 | ZNF276 | Q8N554 | 490 |
| SRBD1 | CAV2 | P51636 | 474 |
| SRBD1 | RRP15 | Q9Y3B9 | 472 |
| SRBD1 | GAS7 | O60861 | 466 |
| SRBD1 | FEZ2 | Q9UHY8 | 462 |
| SRBD1 | NAIF1 | Q69YI7 | 448 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SART3 | PRPF4 | psi-mi:“MI:0914”(association) | 0.730 |
| ZC3HC1 | TPR | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ARIH1 | SPOP | psi-mi:“MI:0914”(association) | 0.530 |
| SRBD1 | PPP3CC | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| MYL6 | MYL6B | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| SRBD1 | GAPDHS | psi-mi:“MI:0915”(physical association) | 0.400 |
| Lyplal1 | PARP10 | psi-mi:“MI:0914”(association) | 0.350 |
| Naa50 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (150): SRBD1 (Affinity Capture-RNA), SRBD1 (Affinity Capture-MS), SRBD1 (Proximity Label-MS), SRBD1 (Proximity Label-MS), SRBD1 (Proximity Label-MS), SRBD1 (Affinity Capture-MS), SRBD1 (Affinity Capture-MS), SRBD1 (Affinity Capture-MS), SRBD1 (Affinity Capture-MS), SRBD1 (Affinity Capture-MS), SRBD1 (Synthetic Lethality), RCAN1 (Affinity Capture-MS), GSK3A (Affinity Capture-MS), SRBD1 (Affinity Capture-MS), SRBD1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8J1M587, A2PYH4, A2RUV5, A8WK63, B2RR83, B3MMA5, B3P3W1, B4K5R2, B4MX21, B6DMK2, B8A4F4, D3Z4R1, F1NTD6, O09053, O13799, O14232, O18475, O48534, O60072, O75417, O93530, P46063, P51979, P53327, Q14BI7, Q1LXK4, Q2VPA6, Q3EBC8, Q3MHU3, Q3YK19, Q497V5, Q5D892, Q5N870, Q5R746, Q5RDI0, Q5RF63, Q5SXJ3, Q6AYJ1, Q6J5K9, Q7QCW2
Diamond homologs: A0LE14, A0Q0Q1, A0QYY6, A1WXU7, A2ZLC1, A3PNG0, A4WWP0, A5GF91, A6LSR0, A7IC03, A8IGA3, A8J637, A8LKE7, A9KNK6, B0K1D0, B0K9P4, B0T175, B2FN86, B2TJ61, B2V4H5, B3EAF2, B4SQR6, B5EI63, B6IVG3, B7JJ84, B8I2R5, B9KP47, B9M1G5, C6E2P5, O06000, O31489, P0AG67, P0AG68, P0AG69, P0AG70, P14128, P14129, P37985, P38494, P46836
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 131 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 |
|---|---|---|---|
| SARS-CoV-1 modulates host translation machinery | 7 | 24.0× | 4e-07 |
| Eukaryotic Translation Initiation | 6 | 20.6× | 8e-06 |
| Cap-dependent Translation Initiation | 6 | 20.6× | 8e-06 |
| Eukaryotic Translation Elongation | 6 | 18.6× | 1e-05 |
| Peptide chain elongation | 13 | 18.3× | 3e-11 |
| Viral mRNA Translation | 13 | 18.3× | 3e-11 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 13 | 18.1× | 3e-11 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 6 | 18.1× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 14 | 21.8× | 2e-12 |
| ribosomal small subunit biogenesis | 9 | 17.2× | 6e-07 |
| translation | 12 | 10.4× | 6e-07 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 10.3× | 1e-02 |
| negative regulation of translation | 6 | 9.9× | 3e-03 |
| rRNA processing | 8 | 9.5× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
195 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 159 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4367 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:45389595:AAAAT:A | acceptor_gain | 1.0000 |
| 2:45389596:AAAT:A | acceptor_gain | 1.0000 |
| 2:45389597:AAT:A | acceptor_gain | 1.0000 |
| 2:45389597:AATCT:A | acceptor_loss | 1.0000 |
| 2:45389598:AT:A | acceptor_gain | 1.0000 |
| 2:45389599:TCTG:T | acceptor_loss | 1.0000 |
| 2:45389600:C:CC | acceptor_gain | 1.0000 |
| 2:45389600:C:CG | acceptor_loss | 1.0000 |
| 2:45392940:TTTA:T | donor_loss | 1.0000 |
| 2:45392941:TTA:T | donor_loss | 1.0000 |
| 2:45392942:TA:T | donor_loss | 1.0000 |
| 2:45392943:A:AG | donor_loss | 1.0000 |
| 2:45392944:C:A | donor_loss | 1.0000 |
| 2:45393125:AAAAC:A | acceptor_gain | 1.0000 |
| 2:45393126:AAAC:A | acceptor_gain | 1.0000 |
| 2:45393126:AAACC:A | acceptor_loss | 1.0000 |
| 2:45393127:AAC:A | acceptor_gain | 1.0000 |
| 2:45393127:AACCT:A | acceptor_loss | 1.0000 |
| 2:45393128:AC:A | acceptor_gain | 1.0000 |
| 2:45393129:CC:C | acceptor_gain | 1.0000 |
| 2:45393129:CCTG:C | acceptor_loss | 1.0000 |
| 2:45393130:C:CC | acceptor_gain | 1.0000 |
| 2:45393130:C:CG | acceptor_loss | 1.0000 |
| 2:45393131:T:A | acceptor_loss | 1.0000 |
| 2:45393134:A:T | acceptor_gain | 1.0000 |
| 2:45393135:G:GC | acceptor_gain | 1.0000 |
| 2:45413109:CTTA:C | donor_loss | 1.0000 |
| 2:45413111:TACC:T | donor_loss | 1.0000 |
| 2:45413112:A:T | donor_loss | 1.0000 |
| 2:45413113:CCT:C | donor_gain | 1.0000 |
AlphaMissense
6549 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:45562740:C:G | R441P | 1.000 |
| 2:45389332:A:G | L989P | 0.999 |
| 2:45389500:C:T | G933E | 0.999 |
| 2:45389521:A:T | V926D | 0.999 |
| 2:45389527:C:T | G924D | 0.999 |
| 2:45418491:C:G | R736P | 0.999 |
| 2:45477060:C:G | R661P | 0.999 |
| 2:45488244:A:C | S654R | 0.999 |
| 2:45488244:A:T | S654R | 0.999 |
| 2:45488246:T:G | S654R | 0.999 |
| 2:45488298:A:C | S636R | 0.999 |
| 2:45488298:A:T | S636R | 0.999 |
| 2:45488300:T:G | S636R | 0.999 |
| 2:45546819:C:T | G596E | 0.999 |
| 2:45551178:C:T | G541E | 0.999 |
| 2:45551179:C:G | G541R | 0.999 |
| 2:45551179:C:T | G541R | 0.999 |
| 2:45551226:A:G | L525P | 0.999 |
| 2:45562719:A:G | L448P | 0.999 |
| 2:45562741:G:T | R441S | 0.999 |
| 2:45389374:A:T | V975D | 0.998 |
| 2:45389464:A:G | L945P | 0.998 |
| 2:45389491:A:T | V936E | 0.998 |
| 2:45389501:C:G | G933R | 0.998 |
| 2:45389501:C:T | G933R | 0.998 |
| 2:45389502:A:C | F932L | 0.998 |
| 2:45389502:A:T | F932L | 0.998 |
| 2:45389504:A:G | F932L | 0.998 |
| 2:45389533:A:G | L922P | 0.998 |
| 2:45418403:G:C | F765L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000009040 (2:45425594 C>T), RS1000010518 (2:45422723 A>T), RS1000021574 (2:45567714 G>A), RS1000026370 (2:45427926 T>C), RS1000033028 (2:45569183 CTTT>C), RS1000047315 (2:45580610 C>G,T), RS1000048450 (2:45604078 A>C), RS1000055072 (2:45533213 C>T), RS1000072872 (2:45464810 G>C), RS1000095355 (2:45564284 A>C), RS1000120697 (2:45412659 T>A), RS1000125919 (2:45514248 T>C), RS1000130664 (2:45562158 CTTATT>C), RS1000144775 (2:45497613 T>A), RS1000147270 (2:45502648 G>A,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000645_1 | Glaucoma | 3.000000e-09 |
| GCST002806_1 | Type 2 diabetes | 1.000000e-06 |
| GCST002815_3 | Bipolar disorder (inflammation and infection response interaction) | 8.000000e-07 |
| GCST002875_30 | Diisocyanate-induced asthma | 2.000000e-06 |
| GCST004750_67 | Squamous cell lung carcinoma | 5.000000e-06 |
| GCST009426_1 | Retinal arteriole-to-venule ratio | 7.000000e-07 |
| GCST90014033_9 | Haemorrhoidal disease | 3.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007050 | HSV1 seropositivity |
| EFO:0006995 | response to diisocyanate |
| EFO:0010554 | retinal vasculature measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| entinostat | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | increases expression, increases abundance | 1 |
| Particulate Matter | increases abundance, decreases 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): glaucoma, hemorrhoid