RBM48 (RNA binding motif protein 48)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84060
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding motif protein 48
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBM48
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf64, HSPC304
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs372607453 A>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(78)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
621015 21785 ENSG00000127993
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephronophthisis nephronophthisis rs372607453 N/A
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 26489029
Colorectal Neoplasms Associate 36185995