Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54502
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding motif protein 47
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBM47
Synonyms (NCBI Gene) Gene synonyms aliases
NET18
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p14
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003847 hsa-miR-1-3p Microarray 15685193
MIRT004903 hsa-miR-124-3p Microarray 15685193
MIRT017607 hsa-miR-335-5p Microarray 18185580
MIRT004903 hsa-miR-124-3p Microarray 18668037
MIRT003847 hsa-miR-1-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 31358901
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 24038582, 24916387
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619104 30358 ENSG00000163694
Protein
UniProt ID A0AV96
Protein name RNA-binding protein 47 (RNA-binding motif protein 47)
Protein function Single-stranded RNA-binding protein that functions in a variety of RNA processes, including alternative splicing, RNA stabilization, and RNA editing (PubMed:24038582, PubMed:24916387, PubMed:27050523, PubMed:30844405, PubMed:31358901, PubMed:341
PDB 2DIS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 73 141 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 153 220 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 248 312 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPP
GWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCH
KHEAKRAVRELNNYEIRPGRL
LGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLD
VIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQ
LWGHQIAVDWAEPEIDVDED
VMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNN
LNGTELEGSCLE
VTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYP
YNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQE
KGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPI
AVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGAS
YVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY
Sequence length 593
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)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Diabetes Severe insulin-resistant type 2 diabetes N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Inhibit 31511650
Carcinogenesis Associate 34274258
Carcinoma Renal Cell Associate 33229623
Cholangiocarcinoma Associate 35716043
Colonic Neoplasms Associate 34182539
Fibrosis Associate 39746275
Graves Ophthalmopathy Stimulate 39746275
Inflammation Associate 39746275
Lupus Erythematosus Systemic Associate 39743791
Melanoma Associate 30403177