RBM48 (RNA binding motif protein 48)

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Gene Gene information from NCBI Gene database.
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Entrez ID 84060
Gene name RNA binding motif protein 48
Gene symbol RBM48
Synonyms (NCBI Gene)
C7orf64HSPC304
Chromosome 7
Chromosome location 7q21.2
SNPs SNP information provided by dbSNP.
1
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SNP ID Visualize variation Clinical significance Consequence
rs372607453 A>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
78 Show/Hide all (78)
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miRTarBase ID miRNA Experiments Reference
MIRT716163 hsa-miR-188-5p HITS-CLIP 19536157
MIRT716162 hsa-miR-6866-3p HITS-CLIP 19536157
MIRT716161 hsa-miR-6729-3p HITS-CLIP 19536157
MIRT716160 hsa-miR-6832-3p HITS-CLIP 19536157
MIRT716159 hsa-miR-6870-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
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GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33509932, 33961781
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
621015 21785 ENSG00000127993
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5RL73
Protein name RNA-binding protein 48
Protein function As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.
PDB 7DVQ
Family and domains
Sequence 
MASSGGELGSLFDHHVQRAVCDTRAKYREGRRPRAVKVYTINLESQYLLIQGVPAVGVMK
ELVERFALYGAIEQYNALDEYPAEDFTEVYLIKFMNLQSARTAKRKMDEQSFFGGLLHVC
YAPEFETVEETRKKLQMRKAYVVKTTENKDHYVTKKKLVTEHKDTEDFRQDFHSEMSGFC
KAALNTSAGNSNPYLPYSCELPLCYFSSKCMCSSGGPVDRAPDSSKDGRNHHKTMGHYNH
NDSLRKTQINSLKNSVACPGAQKAITSSEAVDRFMPRTTQLQERKRRREDDRKLGTFLQT
NPTGNEIMIGPLLPDISKVDMHDDSLNTTANLIRHKLKEVISSVPKPPEDKPEDVHTSHP
LKQRRRI
Sequence length 367
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Nephronophthisis Likely pathogenic rs372607453 RCV000662274
★★★★★
★★★★☆
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
Hepatocellular carcinoma Uncertain significance 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
Ciliopathies Ciliopathy Pubtator 26489029 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36185995 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Nephronophthisis Nephronophthisis CLINVAR_DG 26489029
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

No strongly related genes found yet for RBM48.

No additional diseases found yet through genes similar to RBM48.