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Gene Gene information from NCBI Gene database.
Entrez ID 55696
Gene name RNA binding motif protein 22
Gene symbol RBM22
Synonyms (NCBI Gene)
Cwc2ZC3H16fSAP47
Chromosome 5
Chromosome location 5q33.1
Summary 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. [provided by RefSeq, Mar 2009]
miRNA miRNA information provided by mirtarbase database.
326 Show/Hide all (326)
miRTarBase ID miRNA Experiments Reference
MIRT020871 hsa-miR-155-5p Proteomics 18668040
MIRT052325 hsa-let-7b-5p CLASH 23622248
MIRT671019 hsa-miR-483-3p HITS-CLIP 23824327
MIRT671018 hsa-miR-486-5p HITS-CLIP 23824327
MIRT671017 hsa-miR-6499-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31 Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000974 Component Prp19 complex IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612430 25503 ENSG00000086589
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NW64
Protein name Pre-mRNA-splicing factor RBM22 (RNA-binding motif protein 22) (Zinc finger CCCH domain-containing protein 16)
Protein function Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30705154). Involved in the first step of pre-mRNA splicing. Binds directly to t
PDB 2YTC , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF4 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6ZYM , 7A5P , 7AAV , 7ABG , 7ABI , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 234 → 299 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MATSLGSNTYNRQNWEDADFPILCQTCLGENPYIRMTKEKYGKECKICARPFTVFRWCPG
VRMRFKKTEVCQTCSKLKNVCQTCLLDLEYGLPIQVRDAGLSFKDDMPKSDVNKEYYTQN
MEREISNSDGTRPVGMLGKATSTSDMLLKLARTTPYYKRNRPHICSFWVKGECKRGEECP
YRHEKPTDPDDPLADQNIKDRYYGINDPVADKLLKRASTMPRLDPPEDKTITTLYVGGLG
DTITETDLRNHFYQFGEIRTITVVQRQQCAFIQFATRQAAEVAAEKSFNKLIVNGRRLN
V
KWGRSQAARGKEKEKDGTTDSGIKLEPVPGLPGALPPPPAAEEEASANYFNLPPSGPPAV
VNIALPPPPGIAPPPPPGFGPHMFHPMGPPPPFMRAPGPIHYPSQDPQRMGAHAGKHSSP
Sequence length 420
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Spliceosome mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Malignant tumor of urinary bladder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RBM22-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bohring syndrome Bohring syndrome Pubtator 33141183 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chromosome 5q Deletion Syndrome Chromosome 5q deletion syndrome Pubtator 17916100 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 33141183 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hematologic Diseases Hematologic disease Pubtator 40268057 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Myelodysplastic Syndromes Myelodysplastic syndrome Pubtator 40268057 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only