RBM26
gene geneOn this page
Also known as PRO1777SE70-2FLJ20957ZC3H17ARRS2PPP1R132
Summary
RBM26 (RNA binding motif protein 26, HGNC:20327) is a protein-coding gene on chromosome 13q31.1, encoding RNA-binding protein 26 (Q5T8P6). May be involved in the turnover of nuclear polyadenylated (pA+) RNA.
Enables RNA binding activity. Predicted to be active in nucleus.
Source: NCBI Gene 64062 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 127 total
- Druggable target: yes
- MANE Select transcript:
NM_001366735
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20327 |
| Approved symbol | RBM26 |
| Name | RNA binding motif protein 26 |
| Location | 13q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132 |
| Ensembl gene | ENSG00000139746 |
| Ensembl biotype | protein_coding |
| OMIM | 620081 |
| Entrez | 64062 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 26 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000267229, ENST00000438724, ENST00000438737, ENST00000449987, ENST00000461008, ENST00000472143, ENST00000622611, ENST00000862496, ENST00000862497, ENST00000862498, ENST00000862499, ENST00000862500, ENST00000862501, ENST00000862502, ENST00000862503, ENST00000862504, ENST00000862505, ENST00000862506, ENST00000862507, ENST00000862508, ENST00000862509, ENST00000862510, ENST00000862511, ENST00000915847, ENST00000915848, ENST00000915849, ENST00000969727, ENST00000969728
RefSeq mRNA: 4 — MANE Select: NM_001366735
NM_001286631, NM_001286632, NM_001366735, NM_022118
CCDS: CCDS66566, CCDS73591, CCDS91822, CCDS9462
Canonical transcript exons
ENST00000438737 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001231009 | 79353153 | 79353224 |
| ENSE00001336737 | 79354439 | 79354570 |
| ENSE00001601616 | 79365578 | 79365718 |
| ENSE00001635156 | 79318868 | 79320710 |
| ENSE00001639116 | 79366055 | 79366195 |
| ENSE00001667197 | 79405704 | 79406255 |
| ENSE00001672249 | 79370945 | 79371162 |
| ENSE00001766507 | 79377379 | 79377515 |
| ENSE00001789788 | 79368730 | 79368990 |
| ENSE00001804108 | 79371842 | 79371930 |
| ENSE00003462108 | 79355220 | 79355384 |
| ENSE00003470309 | 79337102 | 79337302 |
| ENSE00003474657 | 79359575 | 79359686 |
| ENSE00003493487 | 79322349 | 79322462 |
| ENSE00003519382 | 79344248 | 79344322 |
| ENSE00003549970 | 79358274 | 79358433 |
| ENSE00003570558 | 79378789 | 79378907 |
| ENSE00003577445 | 79334344 | 79334430 |
| ENSE00003586232 | 79342664 | 79342831 |
| ENSE00003616321 | 79341123 | 79341227 |
| ENSE00003660890 | 79366633 | 79366872 |
| ENSE00003678261 | 79344669 | 79344794 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 96.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.7145 / max 516.7301, expressed in 1789 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137725 | 15.1654 | 1781 |
| 137723 | 1.7573 | 926 |
| 137722 | 1.2382 | 614 |
| 137724 | 0.5536 | 288 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pylorus | UBERON:0001166 | 96.56 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.54 | gold quality |
| retina | UBERON:0000966 | 96.51 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.47 | gold quality |
| blood vessel layer | UBERON:0004797 | 96.11 | gold quality |
| tibia | UBERON:0000979 | 96.10 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 96.10 | gold quality |
| penis | UBERON:0000989 | 95.95 | gold quality |
| cerebellar vermis | UBERON:0004720 | 95.84 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.56 | gold quality |
| nasopharynx | UBERON:0001728 | 95.54 | gold quality |
| visceral pleura | UBERON:0002401 | 95.52 | gold quality |
| urethra | UBERON:0000057 | 95.37 | gold quality |
| superior surface of tongue | UBERON:0007371 | 95.29 | gold quality |
| oocyte | CL:0000023 | 95.08 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.97 | gold quality |
| pericardium | UBERON:0002407 | 94.94 | gold quality |
| secondary oocyte | CL:0000655 | 94.89 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.81 | gold quality |
| parietal pleura | UBERON:0002400 | 94.80 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.72 | gold quality |
| renal medulla | UBERON:0000362 | 94.68 | gold quality |
| ventricular zone | UBERON:0003053 | 94.62 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.48 | gold quality |
| parietal lobe | UBERON:0001872 | 94.46 | gold quality |
| pleura | UBERON:0000977 | 94.39 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.39 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.29 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.08 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.05 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
103 targeting RBM26, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| 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-126-5P | 100.00 | 72.71 | 3180 |
| 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
Literature-anchored findings (GeneRIF, showing 1)
- three additional proteins required for Poly(A) Tail eXosome Targeting (PAXT) function: ZC3H3, RBM26 and RBM27 along with the known PAXT-associated protein, PABPN1, were identified. (PMID:31950173)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rbm26 | ENSDARG00000104130 |
| mus_musculus | Rbm26 | ENSMUSG00000022119 |
| rattus_norvegicus | Rbm26 | ENSRNOG00000009836 |
| drosophila_melanogaster | swm | FBGN0002044 |
| caenorhabditis_elegans | WBGENE00015143 |
Paralogs (1): RBM27 (ENSG00000091009)
Protein
Protein identifiers
RNA-binding protein 26 — Q5T8P6 (reviewed: Q5T8P6)
Alternative names: CTCL tumor antigen se70-2, RNA-binding motif protein 26
All UniProt accessions (3): Q5T8P6, A0A087X0H9, E2PSN0
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the turnover of nuclear polyadenylated (pA+) RNA.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T8P6-1 | 1 | yes |
| Q5T8P6-2 | 2 | |
| Q5T8P6-3 | 3 | |
| Q5T8P6-4 | 4 | |
| Q5T8P6-5 | 5 | |
| Q5T8P6-6 | 6 |
RefSeq proteins (4): NP_001273560, NP_001273561, NP_001353664, NP_071401 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR000571 | Znf_CCCH | Domain |
| IPR002483 | PWI_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034859 | RBM26_RRM1 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR039511 | RBM26-like_RRM2 | Domain |
| IPR045137 | RBM26/27 | Family |
Pfam: PF01480
UniProt features (41 total): compositionally biased region 10, sequence conflict 6, modified residue 5, splice variant 5, region of interest 5, cross-link 3, domain 2, coiled-coil region 2, chain 1, zinc finger region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T8P6-F1 | 58.09 | 0.13 |
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 (8): 127, 496, 510, 518, 616, 94, 106, 106
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9930044 | Nuclear RNA decay |
MSigDB gene sets: 158 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RNGTGGGC_UNKNOWN, AAGCAAT_MIR137, ACTACCT_MIR196A_MIR196B, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KENNY_CTNNB1_TARGETS_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GGCNKCCATNK_UNKNOWN, WANG_LMO4_TARGETS_DN, YY1_02, ATTACAT_MIR3803P, AAAGACA_MIR511, ATTCTTT_MIR186, MYOD_Q6
GO Biological Process (0):
GO Molecular Function (5): RNA binding (GO:0003723), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1252 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RBM26 | ZFC3H1 | O60293 | 667 |
| RBM26 | ZC3H3 | Q8IXZ2 | 581 |
| RBM26 | PCED1A | Q9H1Q7 | 538 |
| RBM26 | MTREX | P42285 | 523 |
| RBM26 | RBM7 | Q9Y580 | 513 |
| RBM26 | ZCCHC8 | Q6NZY4 | 513 |
| RBM26 | PABPN1 | Q86U42 | 459 |
| RBM26 | VPS50 | Q96JG6 | 450 |
| RBM26 | KBTBD4 | Q9NVX7 | 449 |
| RBM26 | RBM22 | Q9NW64 | 440 |
| RBM26 | NOC3L | Q8WTT2 | 426 |
| RBM26 | ZC3HAV1L | Q96H79 | 404 |
| RBM26 | SRRT | Q9BXP5 | 383 |
| RBM26 | GDPD4 | Q6W3E5 | 382 |
| RBM26 | TOE1 | Q96GM8 | 382 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IKBKG | IKBKB | psi-mi:“MI:0914”(association) | 0.980 |
| FOXK2 | DVL2 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD10 | CLPX | psi-mi:“MI:0914”(association) | 0.640 |
| NEUROG3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.640 |
| NCK2 | RBM26 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBM26 | NCK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFRSF13B | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| RBM26 | PPP1CA | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RBM26 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ANKRD26 | RBM26 | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUNB | RBM26 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RBM26 | FXR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDKN2A | RBM26 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RBM26 | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CEP170P1 | PCYT1A | psi-mi:“MI:0914”(association) | 0.350 |
| FZD1 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.350 |
| SETD1B | WBP4 | psi-mi:“MI:0914”(association) | 0.350 |
| Rtf2 | UBE2V2 | psi-mi:“MI:0914”(association) | 0.350 |
| Pip4p2 | ATP6V1B2 | psi-mi:“MI:0914”(association) | 0.350 |
| Chmp2a | MEN1 | psi-mi:“MI:0914”(association) | 0.350 |
| VPS26A | LCMT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| KBTBD7 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (175): RBM26 (Two-hybrid), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RBM26 (Co-fractionation), RBM26 (Co-fractionation), RBM26 (Affinity Capture-MS), RBM26 (Proximity Label-MS), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RBM26 (Affinity Capture-MS)
ESM2 similar proteins: A0A8M2, A0JMU8, A1L1K8, A5D7H5, B9DFV2, E1BUG7, F4JP52, G1SW77, G3X9Z4, O08719, O15234, O94913, Q0V898, Q1LVV0, Q2T9I5, Q32NW2, Q3MHF8, Q498K9, Q566L7, Q5CZI8, Q5JVS0, Q5R4R4, Q5T8P6, Q5TYQ8, Q659C4, Q68FI1, Q6AXS5, Q6NVR8, Q6NZN0, Q6PKG0, Q8AVJ2, Q8CGC4, Q8K2F8, Q8K3W3, Q8K3X0, Q8NC51, Q8ND56, Q91W18, Q91W39, Q96D71
Diamond homologs: Q2T9I5, Q5SFM8, Q5T8P6, Q6NZN0, Q9P2N5, Q9USP9, Q0JDM0, Q9LVX1, Q9VIV2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 145 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 |
|---|---|---|---|
| mRNA 3’-end processing | 7 | 13.2× | 2e-04 |
| mRNA Polyadenylation | 11 | 9.3× | 2e-05 |
| mRNA Splicing | 8 | 8.4× | 5e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 9 | 7.1× | 5e-04 |
| mRNA Splicing - Major Pathway | 13 | 6.8× | 2e-05 |
| Dengue Virus-Host Interactions | 12 | 5.3× | 5e-04 |
| Metabolism of RNA | 12 | 4.8× | 7e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 6 | 10.3× | 4e-03 |
| mRNA splicing, via spliceosome | 10 | 6.9× | 6e-04 |
| RNA splicing | 10 | 6.7× | 6e-04 |
| mRNA processing | 11 | 6.6× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4105 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:79322344:CATA:C | donor_gain | 1.0000 |
| 13:79322345:ATACT:A | donor_loss | 1.0000 |
| 13:79322346:TACT:T | donor_loss | 1.0000 |
| 13:79322347:A:AC | donor_gain | 1.0000 |
| 13:79322347:ACTT:A | donor_gain | 1.0000 |
| 13:79322347:ACTTC:A | donor_loss | 1.0000 |
| 13:79322348:C:CC | donor_gain | 1.0000 |
| 13:79322348:CT:C | donor_gain | 1.0000 |
| 13:79322348:CTT:C | donor_gain | 1.0000 |
| 13:79322348:CTTC:C | donor_gain | 1.0000 |
| 13:79322348:CTTCT:C | donor_gain | 1.0000 |
| 13:79322350:T:TA | donor_gain | 1.0000 |
| 13:79322458:GCAGC:G | acceptor_gain | 1.0000 |
| 13:79322459:CAGCC:C | acceptor_gain | 1.0000 |
| 13:79322460:AGCC:A | acceptor_gain | 1.0000 |
| 13:79322461:GC:G | acceptor_gain | 1.0000 |
| 13:79322461:GCCTA:G | acceptor_gain | 1.0000 |
| 13:79322462:CC:C | acceptor_gain | 1.0000 |
| 13:79322462:CCTA:C | acceptor_gain | 1.0000 |
| 13:79322463:C:T | acceptor_gain | 1.0000 |
| 13:79322463:CT:C | acceptor_gain | 1.0000 |
| 13:79322468:A:AC | acceptor_gain | 1.0000 |
| 13:79322468:A:C | acceptor_gain | 1.0000 |
| 13:79322471:A:C | acceptor_gain | 1.0000 |
| 13:79322472:T:C | acceptor_gain | 1.0000 |
| 13:79322472:T:TC | acceptor_gain | 1.0000 |
| 13:79337013:ATGT:A | donor_gain | 1.0000 |
| 13:79337124:T:TA | donor_gain | 1.0000 |
| 13:79337136:T:A | donor_gain | 1.0000 |
| 13:79337299:CAGC:C | acceptor_gain | 1.0000 |
AlphaMissense
6592 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:79320630:C:A | W1005C | 1.000 |
| 13:79320630:C:G | W1005C | 1.000 |
| 13:79320632:A:G | W1005R | 1.000 |
| 13:79320632:A:T | W1005R | 1.000 |
| 13:79322412:C:A | W957C | 1.000 |
| 13:79322412:C:G | W957C | 1.000 |
| 13:79322414:A:G | W957R | 1.000 |
| 13:79322414:A:T | W957R | 1.000 |
| 13:79322449:C:T | G945E | 1.000 |
| 13:79322461:G:T | A941D | 1.000 |
| 13:79334351:G:T | A938D | 1.000 |
| 13:79334352:C:G | A938P | 1.000 |
| 13:79337106:A:G | F910S | 1.000 |
| 13:79337302:C:G | A845P | 1.000 |
| 13:79341199:A:G | L819P | 1.000 |
| 13:79355265:C:A | W603C | 1.000 |
| 13:79355265:C:G | W603C | 1.000 |
| 13:79355267:A:G | W603R | 1.000 |
| 13:79355267:A:T | W603R | 1.000 |
| 13:79355272:A:T | V601D | 1.000 |
| 13:79355278:A:C | I599S | 1.000 |
| 13:79355278:A:T | I599N | 1.000 |
| 13:79355280:A:C | F598L | 1.000 |
| 13:79355280:A:T | F598L | 1.000 |
| 13:79355281:A:C | F598C | 1.000 |
| 13:79355281:A:G | F598S | 1.000 |
| 13:79355282:A:C | F598V | 1.000 |
| 13:79355282:A:G | F598L | 1.000 |
| 13:79355282:A:T | F598I | 1.000 |
| 13:79355284:C:A | R597L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000013073 (13:79407750 C>T), RS1000017803 (13:79386183 C>T), RS1000024243 (13:79347565 A>G), RS1000110420 (13:79337144 T>C,G), RS1000113467 (13:79380825 T>A,C), RS1000123372 (13:79381059 T>A), RS1000141816 (13:79323734 A>G,T), RS1000171756 (13:79330620 G>A), RS1000183001 (13:79335652 A>C), RS1000213099 (13:79329928 G>A,C), RS1000230041 (13:79372633 A>G), RS1000276280 (13:79359863 T>C), RS1000290106 (13:79367827 A>G), RS1000353505 (13:79379669 T>A,C), RS1000448354 (13:79375756 T>C)
Disease associations
OMIM: gene MIM:620081 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000748_2 | Response to anti-TNF alpha therapy in inflammatory bowel disease | 5.000000e-07 |
| GCST002928_6 | Nickel levels | 5.000000e-06 |
| GCST004495_95 | BMI (adjusted for smoking behaviour) | 9.000000e-06 |
| GCST004497_37 | Body mass index (joint analysis main effects and smoking interaction) | 3.000000e-06 |
| GCST006624_88 | Systolic blood pressure | 3.000000e-09 |
| GCST008162_101 | Hip circumference | 6.000000e-06 |
| GCST009391_1070 | Metabolite levels | 6.000000e-06 |
| GCST010988_472 | Adult body size | 2.000000e-15 |
| GCST010989_60 | Body size at age 10 | 4.000000e-16 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004653 | response to TNF antagonist |
| EFO:0004318 | smoking behavior |
| EFO:0004340 | body mass index |
| EFO:0006335 | systolic blood pressure |
| EFO:0010364 | lysophosphatidylcholine 20:5 measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067233 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.04 | Kd | 921.6 | nM | CHEMBL5653589 |
| 6.04 | ED50 | 921.6 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149206: Binding affinity to human RBM26 incubated for 45 mins by Kinobead based pull down assay | kd | 0.9216 | uM |
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation | 6 |
| sodium arsenite | decreases expression, increases abundance, increases expression, increases activity, affects binding (+1 more) | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Acetaminophen | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| geldanamycin | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| clothianidin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Doxorubicin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652248 | Binding | Binding affinity to human RBM26 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.