RBM22

Summary

RBM22 (RNA binding motif protein 22, HGNC:25503) is a protein-coding gene on chromosome 5q33.1, encoding Pre-mRNA-splicing factor RBM22 (Q9NW64). Required for pre-mRNA splicing as component of the activated spliceosome. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X.

Source: NCBI Gene 55696 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 49 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_018047

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25503
Approved symbol	RBM22
Name	RNA binding motif protein 22
Location	5q33.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10290, ZC3H16, fSAP47, Cwc2
Ensembl gene	ENSG00000086589
Ensembl biotype	protein_coding
OMIM	612430
Entrez	55696

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 4 retained_intron

ENST00000199814, ENST00000447771, ENST00000518917, ENST00000520132, ENST00000521248, ENST00000521464, ENST00000521594, ENST00000522469, ENST00000903160, ENST00000903161, ENST00000903162, ENST00000903163, ENST00000934780

RefSeq mRNA: 1 — MANE Select: NM_018047 NM_018047

CCDS: CCDS34278

Canonical transcript exons

ENST00000199814 — 11 exons

Exon	Start	End
ENSE00000767641	150694076	150694240
ENSE00000841232	150695506	150695706
ENSE00002132423	150700932	150701062
ENSE00003544344	150696533	150696705
ENSE00003548548	150700444	150700497
ENSE00003557498	150690792	150691881
ENSE00003611540	150692895	150693026
ENSE00003612705	150699242	150699271
ENSE00003615954	150693219	150693307
ENSE00003628320	150698499	150698631
ENSE00003791266	150696791	150696891

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 96.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.9904 / max 367.6164, expressed in 1819 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64254	39.9904	1819

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	96.23	gold quality
parietal pleura	UBERON:0002400	95.70	gold quality
pleura	UBERON:0000977	95.54	gold quality
germinal epithelium of ovary	UBERON:0001304	95.49	gold quality
amniotic fluid	UBERON:0000173	95.34	gold quality
visceral pleura	UBERON:0002401	95.34	gold quality
ganglionic eminence	UBERON:0004023	94.77	gold quality
blood	UBERON:0000178	94.44	gold quality
ventricular zone	UBERON:0003053	94.43	gold quality
secondary oocyte	CL:0000655	94.31	gold quality
granulocyte	CL:0000094	94.20	gold quality
palpebral conjunctiva	UBERON:0001812	93.96	gold quality
leukocyte	CL:0000738	93.77	gold quality
embryo	UBERON:0000922	93.73	gold quality
monocyte	CL:0000576	93.70	gold quality
cortical plate	UBERON:0005343	93.68	gold quality
mononuclear cell	CL:0000842	93.67	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.62	gold quality
eye	UBERON:0000970	93.39	gold quality
placenta	UBERON:0001987	93.32	gold quality
rectum	UBERON:0001052	93.27	gold quality
colonic mucosa	UBERON:0000317	93.26	gold quality
caput epididymis	UBERON:0004358	93.20	gold quality
gall bladder	UBERON:0002110	93.11	gold quality
adult organism	UBERON:0007023	93.10	gold quality
islet of Langerhans	UBERON:0000006	93.06	gold quality
corpus epididymis	UBERON:0004359	92.99	gold quality
left ovary	UBERON:0002119	92.96	gold quality
epithelium of nasopharynx	UBERON:0001951	92.93	gold quality
lymph node	UBERON:0000029	92.86	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting RBM22, 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-3646	100.00	73.56	5283
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
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-1252-5P	100.00	69.80	2774
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• ALG-2 alone evenly distributed within the cell, whereas in the presence of RBM22 the two proteins co-localized within the nucleus. (PMID:17045351)
• Cwc2/RBM22-RNA contacts are functionally important. (PMID:22246180)
• Tumor suppressor role of RBM22 in prostate cancer acting as a dual-factor regulating alternative splicing and transcription of key oncogenic genes. (PMID:36089245)
• RBM22 regulates RNA polymerase II 5’ pausing, elongation rate, and termination by coordinating 7SK-P-TEFb complex and SPT5. (PMID:38641822)
• RBM22 is implicated in cell cycle progression (PMID:40268057)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbm22	ENSDARG00000010238
mus_musculus	Rbm22	ENSMUSG00000024604
rattus_norvegicus	Rbm22	ENSRNOG00000019235
drosophila_melanogaster	CG14641	FBGN0037220
caenorhabditis_elegans		WBGENE00011722

Protein

Protein identifiers

Pre-mRNA-splicing factor RBM22 — Q9NW64 (reviewed: Q9NW64)

Alternative names: RNA-binding motif protein 22, Zinc finger CCCH domain-containing protein 16

All UniProt accessions (3): Q9NW64, E5RHA8, E5RJW4

UniProt curated annotations — full annotation on UniProt →

Function. Required for pre-mRNA splicing as component of the activated spliceosome. Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5’ splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses.

Subunit / interactions. Component of the pre-catalytic and catalytic spliceosome complexes. Component of the postcatalytic spliceosome P complex. Interacts with PDCD6; the interaction induces translocation of PDCD6 in the cytoplasm. Interacts with PPIL1.

Subcellular location. Nucleus. Cytoplasm.

Domain organisation. The C-terminal RRM domain and the zinc finger motif are necessary for RNA-binding.

Similarity. Belongs to the SLT11 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NW64-1	1	yes
Q9NW64-2	2

RefSeq proteins (1): NP_060517* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR000571	Znf_CCCH	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR036855	Znf_CCCH_sf	Homologous_superfamily
IPR039171	Cwc2/Slt11	Family
IPR048995	STL11/RBM22-like_N	Domain
IPR057674	Znf-CCCH_RBM22	Domain

Pfam: PF00076, PF21369, PF25584

UniProt features (51 total): strand 15, helix 13, turn 6, modified residue 4, cross-link 3, mutagenesis site 2, region of interest 2, initiator methionine 1, chain 1, splice variant 1, domain 1, zinc finger region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

33 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8C6J	ELECTRON MICROSCOPY	2.8
6ID1	ELECTRON MICROSCOPY	2.86
6ID0	ELECTRON MICROSCOPY	2.9
6ICZ	ELECTRON MICROSCOPY	3
8I0R	ELECTRON MICROSCOPY	3
8I0T	ELECTRON MICROSCOPY	3
8I0V	ELECTRON MICROSCOPY	3
7QTT	ELECTRON MICROSCOPY	3.1
9R3D	ELECTRON MICROSCOPY	3.12
6QDV	ELECTRON MICROSCOPY	3.3
8I0U	ELECTRON MICROSCOPY	3.3
9FMD	ELECTRON MICROSCOPY	3.3
6FF4	ELECTRON MICROSCOPY	3.4
6ZYM	ELECTRON MICROSCOPY	3.4
8I0P	ELECTRON MICROSCOPY	3.4
8I0W	ELECTRON MICROSCOPY	3.4
8RO2	ELECTRON MICROSCOPY	3.5
5XJC	ELECTRON MICROSCOPY	3.6
7W59	ELECTRON MICROSCOPY	3.6
7W5A	ELECTRON MICROSCOPY	3.6
5YZG	ELECTRON MICROSCOPY	4.1
7AAV	ELECTRON MICROSCOPY	4.2
8I0S	ELECTRON MICROSCOPY	4.2
7W5B	ELECTRON MICROSCOPY	4.3
6FF7	ELECTRON MICROSCOPY	4.5
7A5P	ELECTRON MICROSCOPY	5
5Z56	ELECTRON MICROSCOPY	5.1
5MQF	ELECTRON MICROSCOPY	5.9
8CH6	ELECTRON MICROSCOPY	5.9
5Z57	ELECTRON MICROSCOPY	6.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NW64-F1	77.10	0.33

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 (7): 212, 139, 149, 290, 2, 4, 102

Mutagenesis-validated functional residues (2):

Position	Phenotype
170	accumulates in speckle-like structures.
324	accumulates in speckle-like structures.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 178 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_NUCLEAR_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT

GO Biological Process (8): mRNA splicing, via spliceosome (GO:0000398), positive regulation of RNA splicing (GO:0033120), positive regulation of protein import into nucleus (GO:0042307), mRNA cis splicing, via spliceosome (GO:0045292), positive regulation of protein export from nucleus (GO:0046827), cellular response to xenobiotic stimulus (GO:0071466), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (8): RNA binding (GO:0003723), zinc ion binding (GO:0008270), U6 snRNA binding (GO:0017070), pre-mRNA binding (GO:0036002), calcium-dependent protein binding (GO:0048306), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (8): Prp19 complex (GO:0000974), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), U2-type catalytic step 1 spliceosome (GO:0071006), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013), spliceosomal complex (GO:0005681)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
mRNA Splicing	1
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of nucleocytoplasmic transport	2
positive regulation of intracellular protein transport	2
RNA processing	2
binding	2
cellular anatomical structure	2
U2-type spliceosomal complex	2
U2 snRNP	2
U6 snRNP	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
RNA splicing	1
positive regulation of gene expression	1
regulation of RNA splicing	1
protein import into nucleus	1
regulation of protein import into nucleus	1
positive regulation of protein localization to nucleus	1
mRNA splicing, via spliceosome	1
protein export from nucleus	1
regulation of protein export from nucleus	1
response to xenobiotic stimulus	1
cellular response to chemical stimulus	1
mRNA metabolic process	1
nucleic acid binding	1
transition metal ion binding	1
snRNA binding	1
RNA binding	1
calcium ion binding	1
protein binding	1
cation binding	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
catalytic step 1 spliceosome	1
catalytic step 2 spliceosome	1
Prp19 complex	1
spliceosomal complex	1
U5 snRNP	1
catalytic complex	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

2391 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBM22	PLRG1	O43660	856
RBM22	BUD31	P41223	856
RBM22	SNW1	Q13573	815
RBM22	CDC5L	Q99459	796
RBM22	CDC40	O60508	790
RBM22	XAB2	Q9HCS7	786
RBM22	ECM2	O94769	785
RBM22	YJU2	Q9BW85	777
RBM22	EFTUD2	Q15029	772
RBM22	SLU7	O95391	688
RBM22	CWC15	Q9P013	686
RBM22	CRNKL1	Q9BZJ0	667
RBM22	SYF2	O95926	665
RBM22	PRPF8	Q6P2Q9	658
RBM22	RNF113A	O15541	627

IntAct

161 interactions, top by confidence:

A	B	Type	Score
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
KIFAP3	KIF3B	psi-mi:“MI:0914”(association)	0.900
PPIE	AQR	psi-mi:“MI:0914”(association)	0.810
PRPF19	AQR	psi-mi:“MI:0914”(association)	0.790
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
ISY1	AQR	psi-mi:“MI:0914”(association)	0.740
SYF2	AQR	psi-mi:“MI:0914”(association)	0.730
RBM22	CEP55	psi-mi:“MI:0915”(physical association)	0.720
CEP55	RBM22	psi-mi:“MI:0915”(physical association)	0.720
SNW1	AQR	psi-mi:“MI:0914”(association)	0.650
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
PNN	CASC3	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
GIGYF1	RBM22	psi-mi:“MI:0915”(physical association)	0.560
HOMER3	RBM22	psi-mi:“MI:0915”(physical association)	0.560
RBM22	NCKIPSD	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	RBM22	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	RBM22	psi-mi:“MI:0915”(physical association)	0.560
G3BP1	COX5A	psi-mi:“MI:0914”(association)	0.530
SNRPE	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
SNRPF	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
SNIP1	CASC3	psi-mi:“MI:0914”(association)	0.530
KIAA1143	AQR	psi-mi:“MI:0914”(association)	0.530

BioGRID (231): RBM22 (Two-hybrid), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), RBM22 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTH9, A6QQM4, A7SKE9, B4KLC0, B4LRY2, B4Q5Z1, E0X9N4, O60308, P0CR50, P0CR51, P10711, P23193, Q02336, Q09464, Q0VA16, Q15560, Q17CJ5, Q1HE00, Q28CY2, Q29RL9, Q3B7L8, Q3EA33, Q4KLL0, Q4R4J1, Q4V7D7, Q5EB92, Q5RAY5, Q5U2P3, Q5ZM16, Q63799, Q641B2, Q6DJI8, Q6DRC4, Q6GPP0, Q6IDS6, Q6NZZ9, Q6P616, Q7QJV0, Q7ZXB5, Q8BHS3

Diamond homologs: A2VDB3, F4I3B3, O13759, O14102, O15042, O22703, O60176, O74400, P08199, P19338, P19682, P19683, P27476, P28644, P31483, P32588, P32831, P41891, P52912, Q00539, Q01085, Q04836, Q05196, Q05966, Q08935, Q0J9Y2, Q0P5L0, Q0WW84, Q10355, Q15427, Q1RMJ7, Q1ZXC2, Q28IQ9, Q3B7L8, Q44554, Q44556, Q44560, Q4G338, Q4KLH4, Q4KM14

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 173 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 Splicing	32	26.8×	8e-36
Transport of Mature Transcript to Cytoplasm	9	26.1×	1e-09
mRNA Splicing - Major Pathway	55	22.9×	9e-60
Processing of Capped Intron-Containing Pre-mRNA	36	22.6×	2e-37
mRNA 3’-end processing	15	22.6×	5e-15
RNA Polymerase II Transcription Termination	13	21.8×	9e-13
mRNA Splicing - Minor Pathway	11	18.8×	5e-10
mRNA Polyadenylation	27	18.1×	5e-25

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	11	44.3×	9e-14
negative regulation of mRNA splicing, via spliceosome	7	34.6×	8e-08
regulation of mRNA splicing, via spliceosome	6	34.3×	1e-06
RNA splicing, via transesterification reactions	8	32.2×	1e-08
spliceosomal snRNP assembly	8	30.0×	2e-08
mRNA splicing, via spliceosome	47	27.8×	5e-53
spliceosomal complex assembly	7	27.2×	4e-07
alternative mRNA splicing, via spliceosome	5	21.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

49 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1447 predictions. Top by Δscore:

Variant	Effect	Δscore
5:150693022:AAGAG:A	acceptor_gain	1.0000
5:150693023:AGAG:A	acceptor_gain	1.0000
5:150693024:GAG:G	acceptor_gain	1.0000
5:150693024:GAGC:G	acceptor_loss	1.0000
5:150693025:AG:A	acceptor_gain	1.0000
5:150693026:GCTGG:G	acceptor_loss	1.0000
5:150693027:C:CC	acceptor_gain	1.0000
5:150693027:CTG:C	acceptor_loss	1.0000
5:150693028:T:A	acceptor_loss	1.0000
5:150693308:C:CC	acceptor_gain	1.0000
5:150694072:TCACC:T	donor_loss	1.0000
5:150694073:CACC:C	donor_loss	1.0000
5:150694074:ACCTT:A	donor_gain	1.0000
5:150694075:CCTT:C	donor_gain	1.0000
5:150694075:CCTTC:C	donor_gain	1.0000
5:150694078:T:A	donor_gain	1.0000
5:150694120:A:AC	donor_gain	1.0000
5:150694131:T:TA	donor_gain	1.0000
5:150694236:GATTT:G	acceptor_gain	1.0000
5:150694237:ATTT:A	acceptor_gain	1.0000
5:150694237:ATTTC:A	acceptor_gain	1.0000
5:150694238:TTT:T	acceptor_gain	1.0000
5:150694238:TTTCT:T	acceptor_gain	1.0000
5:150694239:TT:T	acceptor_gain	1.0000
5:150694239:TTCTG:T	acceptor_gain	1.0000
5:150694240:TCT:T	acceptor_gain	1.0000
5:150694240:TCTGA:T	acceptor_loss	1.0000
5:150694241:C:CC	acceptor_gain	1.0000
5:150694242:T:C	acceptor_loss	1.0000
5:150694242:T:G	acceptor_gain	1.0000

AlphaMissense

2745 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:150693236:A:T	V328D	1.000
5:150694079:C:T	G303E	1.000
5:150694080:C:G	G303R	1.000
5:150694080:C:T	G303R	1.000
5:150694081:C:A	W302C	1.000
5:150694081:C:G	W302C	1.000
5:150694082:C:A	W302L	1.000
5:150694082:C:G	W302S	1.000
5:150694083:A:G	W302R	1.000
5:150694083:A:T	W302R	1.000
5:150694136:G:T	A284D	1.000
5:150694137:C:G	A284P	1.000
5:150694139:G:T	A283D	1.000
5:150694148:G:T	A280E	1.000
5:150694165:A:C	F274L	1.000
5:150694165:A:T	F274L	1.000
5:150694166:A:G	F274S	1.000
5:150694167:A:G	F274L	1.000
5:150694174:G:C	F271L	1.000
5:150694174:G:T	F271L	1.000
5:150694175:A:C	F271C	1.000
5:150694175:A:G	F271S	1.000
5:150694176:A:C	F271V	1.000
5:150694176:A:G	F271L	1.000
5:150694176:A:T	F271I	1.000
5:150694178:G:T	A270D	1.000
5:150694179:C:G	A270P	1.000
5:150694182:A:G	C269R	1.000
5:150694211:C:G	R259P	1.000
5:150694220:C:A	G256V	1.000

dbSNP variants (sampled 300 via entrez): RS1000310509 (5:150694652 G>C), RS1000705188 (5:150699633 A>G), RS1000731922 (5:150699412 C>A), RS1000990844 (5:150696376 A>G), RS1001221382 (5:150693522 C>T), RS1001723334 (5:150700969 C>A), RS1001891487 (5:150691556 T>A,C), RS1002322301 (5:150701924 C>T), RS1002452124 (5:150697864 C>A), RS1002548268 (5:150702910 G>A,C), RS1002627780 (5:150695217 T>C), RS1002788539 (5:150698088 C>T), RS1002818759 (5:150692481 A>G), RS1002892116 (5:150691957 G>A), RS1002923248 (5:150691544 C>T)

Disease associations

OMIM: gene MIM:612430 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004131_47	Inflammatory bowel disease	3.000000e-15
GCST004132_24	Crohn’s disease	2.000000e-19
GCST005855_1	Cholangiocarcinoma in primary sclerosing cholangitis	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725152 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.72	IC50	190	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178594: Inhibition of RBM22 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.1900	uM

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	4
Vorinostat	decreases expression	3
sodium arsenite	decreases expression, increases expression	2
GSK-J4	increases expression	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
trichostatin A	affects expression	1
methylparaben	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
di-n-butylphosphoric acid	affects expression	1
oxamflatin	decreases expression	1
scriptaid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
suberoyl bis-hydroxamic acid	decreases expression	1
LDN 193189	increases expression, affects cotreatment	1
PCI 5002	affects cotreatment, increases expression	1
Panobinostat	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Plant Oils	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697324	Binding	Inhibition of RBM22 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.