RBM15B
gene geneOn this page
Also known as HUMAGCGBOTT3
Summary
RBM15B (RNA binding motif protein 15B, HGNC:24303) is a protein-coding gene on chromosome 3p21.2, encoding Putative RNA-binding protein 15B (Q8NDT2). RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA.
Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).
Source: NCBI Gene 29890 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 99 total
- MANE Select transcript:
NM_013286
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24303 |
| Approved symbol | RBM15B |
| Name | RNA binding motif protein 15B |
| Location | 3p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HUMAGCGB, OTT3 |
| Ensembl gene | ENSG00000259956 |
| Ensembl biotype | protein_coding |
| OMIM | 612602 |
| Entrez | 29890 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000563281
RefSeq mRNA: 1 — MANE Select: NM_013286
NM_013286
CCDS: CCDS33764
Canonical transcript exons
ENST00000563281 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002589139 | 51391285 | 51397908 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 91.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7444 / max 280.4106, expressed in 1804 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36765 | 24.9612 | 1803 |
| 36767 | 0.6712 | 407 |
| 36766 | 0.0869 | 27 |
| 202763 | 0.0251 | 3 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 91.61 | gold quality |
| cortical plate | UBERON:0005343 | 90.61 | gold quality |
| embryo | UBERON:0000922 | 90.51 | gold quality |
| ventricular zone | UBERON:0003053 | 89.65 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.71 | gold quality |
| endometrium epithelium | UBERON:0004811 | 87.65 | silver quality |
| stromal cell of endometrium | CL:0002255 | 86.69 | gold quality |
| mammary duct | UBERON:0001765 | 86.47 | gold quality |
| type B pancreatic cell | CL:0000169 | 85.92 | gold quality |
| granulocyte | CL:0000094 | 85.56 | gold quality |
| olfactory bulb | UBERON:0002264 | 85.52 | gold quality |
| paraflocculus | UBERON:0005351 | 85.47 | silver quality |
| frontal pole | UBERON:0002795 | 85.28 | silver quality |
| epithelium of mammary gland | UBERON:0003244 | 85.26 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.08 | gold quality |
| cartilage tissue | UBERON:0002418 | 84.95 | gold quality |
| gingival epithelium | UBERON:0001949 | 84.80 | gold quality |
| gingiva | UBERON:0001828 | 84.69 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.64 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 84.42 | silver quality |
| middle frontal gyrus | UBERON:0002702 | 84.35 | silver quality |
| leukocyte | CL:0000738 | 84.27 | gold quality |
| tibialis anterior | UBERON:0001385 | 84.13 | silver quality |
| mononuclear cell | CL:0000842 | 84.09 | gold quality |
| monocyte | CL:0000576 | 84.01 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.01 | gold quality |
| lower esophagus | UBERON:0013473 | 83.99 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.79 | gold quality |
| esophagus | UBERON:0001043 | 83.72 | gold quality |
| tibial artery | UBERON:0007610 | 83.72 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.58 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
115 targeting RBM15B, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
Literature-anchored findings (GeneRIF, showing 4)
- The RNA-binding motif protein 15B (RBM15B/OTT3) acts as cofactor of the nuclear export receptor NXF1. (PMID:19586903)
- HHV-8 ORF57 interacts with RBM15 and OTT3 to promote expression of viral intronless genes. (PMID:21106733)
- BAP1 is highly positively correlated with RBM15B and USP19 expression in invasive breast carcinoma, UM, and colon adenocarcinoma (PMID:30716094)
- N(6)-Methyladenosine regulator RBM15B acts as an independent prognostic biomarker and its clinical significance in uveal melanoma. (PMID:36003405)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rbm15b | ENSDARG00000078966 |
| mus_musculus | Rbm15b | ENSMUSG00000074102 |
| rattus_norvegicus | Rbm15b | ENSRNOG00000014161 |
| drosophila_melanogaster | nonA | FBGN0004227 |
| drosophila_melanogaster | nonA-l | FBGN0015520 |
| drosophila_melanogaster | nito | FBGN0027548 |
Paralogs (7): SPEN (ENSG00000065526), SFPQ (ENSG00000116560), PSPC1 (ENSG00000121390), NONO (ENSG00000147140), RAVER1 (ENSG00000161847), RAVER2 (ENSG00000162437), RBM15 (ENSG00000162775)
Protein
Protein identifiers
Putative RNA-binding protein 15B — Q8NDT2 (reviewed: Q8NDT2)
Alternative names: One-twenty two protein 3, RNA-binding motif protein 15B
All UniProt accessions (1): Q8NDT2
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA. Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex. Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist. Functions in the regulation of alternative or illicit splicing, possibly by regulating m6A methylation. Inhibits pre-mRNA splicing. Also functions as a mRNA export factor by acting as a cofactor for the nuclear export receptor NXF1.
Subunit / interactions. Component of the WMM complex, a N6-methyltransferase complex composed of a catalytic subcomplex, named MAC, and of an associated subcomplex, named MACOM. The MAC subcomplex is composed of METTL3 and METTL14. The MACOM subcomplex is composed of WTAP, ZC3H13, CBLL1/HAKAI, VIRMA, and, in some cases of RBM15 (RBM15 or RBM15B). May interact with NCOR2. Interacts with NXF1, the interaction is required to promote mRNA export. (Microbial infection) Interacts (via the SPOC domain) with Epstein-Barr virus BMLF1 (via the N-terminus); the interaction is direct.
Subcellular location. Nucleus. Nucleoplasm. Nucleus speckle. Nucleus envelope.
Tissue specificity. Ubiquitously expressed.
Similarity. Belongs to the RRM Spen family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NDT2-1 | 1 | yes |
| Q8NDT2-2 | 2 |
RefSeq proteins (1): NP_037418* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR010912 | SPOC_met | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR012921 | SPOC_C | Domain |
| IPR016194 | SPOC-like_C_dom_sf | Homologous_superfamily |
| IPR034475 | RBM15B_RRM1 | Domain |
| IPR034535 | RBM15B_RRM2 | Domain |
| IPR034536 | RBM15B_RRM3 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076, PF07744
UniProt features (33 total): compositionally biased region 11, modified residue 8, domain 4, region of interest 4, cross-link 2, chain 1, splice variant 1, sequence conflict 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NDT2-F1 | 62.05 | 0.26 |
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): 109, 113, 265, 267, 532, 552, 556, 562, 213, 702
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 155 (showing top):
YAGI_AML_WITH_INV_16_TRANSLOCATION, GCANCTGNY_MYOD_Q6, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, CAGCTG_AP4_Q5, YY1_Q6, GOBP_RNA_METHYLATION, GOBP_NUCLEAR_TRANSPORT, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_RNA_MODIFICATION, YY1_02, TGCTGAY_UNKNOWN, USF_01, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, AAAGACA_MIR511
GO Biological Process (6): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), RNA methylation (GO:0001510), mRNA processing (GO:0006397), mRNA export from nucleus (GO:0006406), RNA splicing (GO:0008380), dosage compensation by inactivation of X chromosome (GO:0009048)
GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nuclear envelope (GO:0005635), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), RNA N6-methyladenosine methyltransferase complex (GO:0036396)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| alternative mRNA splicing, via spliceosome | 1 |
| regulation of mRNA splicing, via spliceosome | 1 |
| RNA modification | 1 |
| macromolecule methylation | 1 |
| mRNA metabolic process | 1 |
| RNA export from nucleus | 1 |
| gene expression | 1 |
| mRNA transport | 1 |
| sex-chromosome dosage compensation | 1 |
| heterochromatin formation | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleus | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
| methyltransferase complex | 1 |
Protein interactions and networks
STRING
804 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RBM15B | ZC3H13 | Q5T200 | 998 |
| RBM15B | VIRMA | Q69YN4 | 998 |
| RBM15B | WTAP | Q15007 | 998 |
| RBM15B | METTL14 | Q9HCE5 | 998 |
| RBM15B | METTL3 | Q86U44 | 997 |
| RBM15B | CBLL1 | Q75N03 | 990 |
| RBM15B | RBM15 | Q96T37 | 983 |
| RBM15B | METTL16 | Q86W50 | 966 |
| RBM15B | MAPRE2 | Q15555 | 903 |
| RBM15B | RAE1 | P78406 | 891 |
| RBM15B | YTHDC1 | Q96MU7 | 842 |
| RBM15B | YTHDC2 | Q9H6S0 | 829 |
| RBM15B | YTHDF3 | Q7Z739 | 827 |
| RBM15B | YTHDF1 | Q9BYJ9 | 823 |
| RBM15B | ALKBH5 | Q6P6C2 | 823 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ASH2L | KMT2D | psi-mi:“MI:0914”(association) | 0.890 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| RBM15B | NAV2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAV2 | RBM15B | psi-mi:“MI:0915”(physical association) | 0.560 |
| METTL3 | WTAP | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM23 | POTEB3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H18 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| RBM15B | KLHL22 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR83 | SH2B2 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM15B | YWHAH | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ERBB2 | RBM15B | psi-mi:“MI:0915”(physical association) | 0.370 |
| RBM15B | PA | psi-mi:“MI:0915”(physical association) | 0.370 |
| RBM15B | PB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RBM15B | PB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RBM15B | EGR2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TNNC1 | RBM15B | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATP6V0D2 | RBM15B | psi-mi:“MI:0915”(physical association) | 0.370 |
| NCAPH | SCAMP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP170P1 | PCYT1A | psi-mi:“MI:0914”(association) | 0.350 |
| THOC1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| MATR3 | BCLAF3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (122): RBM15B (Two-hybrid), NAV2 (Two-hybrid), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS), DDX47 (Co-fractionation), RBM15B (Co-fractionation), RBM15B (Biochemical Activity), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS), RBM15B (Affinity Capture-MS)
ESM2 similar proteins: D3YXK2, F4IS91, F4JCU0, O13845, O88453, P18615, P19426, P51116, Q05519, Q08CF3, Q08DZ2, Q0P5D2, Q0V898, Q0VBL3, Q14151, Q15424, Q16630, Q2QKB3, Q5NVH8, Q5R452, Q5RKH1, Q5TYQ8, Q5VUA4, Q5XI29, Q5ZL34, Q61136, Q62504, Q641G3, Q68UI8, Q6DDW4, Q6NVF9, Q6NWC6, Q6PHZ5, Q7KMJ6, Q803E1, Q86U06, Q8BTV2, Q8N684, Q8NDT2, Q91W39
Diamond homologs: F4I3B3, O15042, O64380, O93235, Q0VBL3, Q1LZD9, Q4KLH4, Q5R7X2, Q5ZK88, Q62504, Q6NV83, Q6PHZ5, Q7KMJ6, Q8NDT2, Q8R326, Q8SX83, Q8WXF1, Q96T37, Q96T58, Q9SX79, A2A5N3, A4F5G6, A6NFN3, B3LYP1, B4JUT1, B4KCD5, B4LZ88, B4NB54, C0H859, O74400, O75494, P19682, P19683, P23246, P28644, P30352, P60824, P60825, P60826, Q01130
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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 |
|---|---|---|---|
| Processing of Capped Intron-Containing Pre-mRNA | 8 | 12.6× | 8e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| RNA splicing | 7 | 8.3× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 97 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
107 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:51393756:G:T | donor_gain | 0.9800 |
| 3:51394046:A:AG | donor_gain | 0.9600 |
| 3:51394045:GAT:G | donor_gain | 0.9200 |
| 3:51393795:C:T | donor_gain | 0.8500 |
| 3:51393908:A:AG | donor_gain | 0.8300 |
| 3:51395912:CTTG:C | acceptor_gain | 0.8200 |
| 3:51393756:G:GT | donor_gain | 0.8000 |
| 3:51394098:T:G | donor_gain | 0.7700 |
| 3:51394118:T:G | donor_gain | 0.7700 |
| 3:51396193:T:TC | acceptor_gain | 0.7400 |
| 3:51396207:C:CT | acceptor_gain | 0.7300 |
| 3:51396193:T:C | acceptor_gain | 0.7200 |
| 3:51396208:A:T | acceptor_gain | 0.7100 |
| 3:51396864:T:TA | acceptor_gain | 0.6800 |
| 3:51396225:C:T | acceptor_gain | 0.6700 |
| 3:51395915:G:GC | acceptor_gain | 0.6600 |
| 3:51393889:G:GT | donor_gain | 0.6300 |
| 3:51396195:G:C | acceptor_gain | 0.6300 |
| 3:51396185:TCCCA:T | acceptor_gain | 0.5900 |
| 3:51396223:TGC:T | acceptor_gain | 0.5800 |
| 3:51393768:GC:G | donor_gain | 0.5700 |
| 3:51396191:CTT:C | acceptor_gain | 0.5500 |
| 3:51396192:TTT:T | acceptor_gain | 0.5500 |
| 3:51396193:T:G | acceptor_gain | 0.5500 |
| 3:51393865:G:GT | donor_gain | 0.5400 |
| 3:51393736:C:A | donor_gain | 0.5300 |
| 3:51393735:TCAC:T | donor_gain | 0.5200 |
| 3:51393536:GA:G | donor_gain | 0.5100 |
| 3:51393866:A:T | donor_gain | 0.5000 |
| 3:51396195:G:GC | acceptor_gain | 0.4900 |
AlphaMissense
5733 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:51391821:T:C | L141S | 1.000 |
| 3:51391887:T:C | F163S | 1.000 |
| 3:51391899:G:T | G167V | 1.000 |
| 3:51391947:C:A | A183D | 1.000 |
| 3:51391958:T:C | F187L | 1.000 |
| 3:51391959:T:C | F187S | 1.000 |
| 3:51391960:C:A | F187L | 1.000 |
| 3:51391960:C:G | F187L | 1.000 |
| 3:51392403:C:A | A335D | 1.000 |
| 3:51392415:T:A | L339H | 1.000 |
| 3:51392415:T:C | L339P | 1.000 |
| 3:51392415:T:G | L339R | 1.000 |
| 3:51392417:T:A | F340I | 1.000 |
| 3:51392417:T:C | F340L | 1.000 |
| 3:51392417:T:G | F340V | 1.000 |
| 3:51392418:T:C | F340S | 1.000 |
| 3:51392418:T:G | F340C | 1.000 |
| 3:51392419:C:A | F340L | 1.000 |
| 3:51392419:C:G | F340L | 1.000 |
| 3:51392421:T:A | I341N | 1.000 |
| 3:51392423:G:C | G342R | 1.000 |
| 3:51392423:G:T | G342C | 1.000 |
| 3:51392424:G:A | G342D | 1.000 |
| 3:51392424:G:T | G342V | 1.000 |
| 3:51392428:C:A | N343K | 1.000 |
| 3:51392428:C:G | N343K | 1.000 |
| 3:51392430:T:A | L344Q | 1.000 |
| 3:51392430:T:C | L344P | 1.000 |
| 3:51392457:T:C | L353P | 1.000 |
| 3:51392468:T:C | F357L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000436457 (3:51390648 C>A,T), RS1000542905 (3:51391111 C>T), RS1000624451 (3:51396109 A>C), RS1000678216 (3:51395841 C>T), RS1001145996 (3:51389899 G>A), RS1002349348 (3:51397445 C>G), RS1003381331 (3:51394238 A>G,T), RS1003905304 (3:51396955 C>T), RS1003931959 (3:51390569 C>T), RS1003957503 (3:51396565 T>C), RS1004282464 (3:51390277 G>A,T), RS1005340086 (3:51389284 C>A,T), RS1005550607 (3:51391944 T>C), RS1005630609 (3:51398161 T>A), RS1006017481 (3:51392263 G>A,T)
Disease associations
OMIM: gene MIM:612602 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007732_15 | Allergic disease (asthma, hay fever or eczema) | 1.000000e-07 |
| GCST012232_7 | Lipoprotein (a) levels | 3.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006925 | lipoprotein A measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| quercitrin | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | increases expression, affects cotreatment | 1 |
| coumarin | decreases phosphorylation | 1 |
| cyclic 3’,5’-uridine monophosphate | affects binding | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9QC | Ubigene HEK293 RBM15B KO | Transformed cell line | Female |
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.