Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
282996
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding motif protein 20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBM20
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61735272 T>C Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs76048624 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs77110978 G>A,T Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs116908219 G>A Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs147356378 C>A,G Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT038341 hsa-miR-296-3p CLASH 23622248
MIRT622516 hsa-miR-26a-1-3p HITS-CLIP 23824327
MIRT622515 hsa-miR-26a-2-3p HITS-CLIP 23824327
MIRT622514 hsa-miR-3653-5p HITS-CLIP 23824327
MIRT622513 hsa-miR-1976 HITS-CLIP 23824327
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 IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding ISS
GO:0003729 Function MRNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613171 27424 ENSG00000203867
Protein
UniProt ID Q5T481
Protein name RNA-binding protein 20 (RNA-binding motif protein 20)
Protein function RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes encoding key structural proteins involved in cardiac development, such as TTN (Titin), CACNA1C, CAMK2D or PDLIM5/ENH (PubMed:22466703, PubMed:24960161, PubMed:266
Family and domains
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in the heart (PubMed:19712804, PubMed:23886709). Also expressed in skeletal muscle tissues, ovary, small intestine and colon (PubMed:23886709). {ECO:0000269|PubMed:19712804, ECO:0000269|PubMed:23886709}.
Sequence
MVLAAAMSQDADPSGPEQPDRVACSVPGARASPAPSGPRGMQQPPPPPQPPPPPQAGLPQ
IIQNAAKLLDKNPFSVSNPNPLLPSPASLQLAQLQAQLTLHRLKLAQTAVTNNTAAATVL
NQVLSKVAMSQPLFNQLRHPSVITGPHGHAGVPQHAAAIPSTRFPSNAIAFSPPSQTRGP
GPSMNLPNQPPSAMVMHPFTGVMPQTPGQPAVILGIGKTGPAPATAGFYEYGKASSGQTY
GPETDGQPGFLPSSASTSGSVTYEGHYSHTGQDGQAAFSKDFYGPNSQGSHVASGFPAEQ
AGGLKSEVGPLLQGTNSQWESPHGFSGQSKPDLTAGPMWPPPHNQPYELYDPEEPTSDRT
PPSFGGRLNNSKQGFIGAGRRAKEDQALLSVRPLQAHELNDFHGVAPLHLPHICSICDKK
VFDLKDWELHVKGKLHAQKCLVFSENAGIRCILGSAEGTLCASPNSTAVYNPAGNEDYAS
NLGTSYVPIPARSFTQSSPTFPLASVGTTFAQRKGAGRVVHICNLPEGSCTENDVINLGL
PFGKVTNYILMKSTNQAFLEMAYTEAAQAMVQYYQEKSAVINGEKLLIRMSKRYKELQLK
KPGKAVAAIIQDIHSQRERDMFREADRYGPERPRSRSPVSRSLSPRSHTPSFTSCSSSHS
PPGPSRADWGNGRDSWEHSPYARREEERDPAPWRDNGDDKRDRMDPWAHDRKHHPRQLDK
AELDERPEGGRPHREKYPRSGSPNLPHSVSSYKSREDGYYRKEPKAKWDKYLKQQQDAPG
RSRRKDEARLRESRHPHPDDSGKEDGLGPKVTRAPEGAKAKQNEKNKTKRTDRDQEGADD
RKENTMAENEAGKEEQEGMEESPQSVGRQEKEAEFSDPENTRTKKEQDWESESEAEGESW
YPTNMEELVTVDEVGEEEDFIVEPDIPELEEIVPIDQKDKICPETCLCVTTTLDLDLAQD
FPKEGVKAVGNGAAEISLKSPRELPSASTSCPSDMDVEMPGLNLDAERKPAESETGLSLE
DSDCYEKEAKGVESSDVHPAPTVQQMSSPKPAEERARQPSPFVDDCKTRGTPEDGACEGS
PLEEKASPPIETDLQNQACQEVLTPENSRYVEMKSLEVRSPEYTEVELKQPLSLPSWEPE
DVFSELSIPLGVEFVVPRTGFYCKLCGLFYTSEETAKMSHCRSAVHYRNLQKYLSQLAEE
GLKETEGADSPRPEDSGIVPRFERKKL
Sequence length 1227
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
cardiomyopathy Cardiomyopathy rs397516607, rs267607004 N/A
Cardiomyopathy left ventricular noncompaction cardiomyopathy, Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy rs397516607, rs267607002, rs267607004, rs267607001, rs267607003 N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1A rs267607001, rs397516607, rs267607002, rs1114167331, rs796734066, rs267607004, rs1554898987, rs267607003 N/A
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
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy N/A N/A ClinVar
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Conduction Disorder Of The Heart conduction disorder of the heart N/A N/A ClinVar
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 34732726
Arrhythmias Cardiac Associate 33450993, 34333030, 37593875
Arrhythmogenic Right Ventricular Dysplasia Associate 28767663, 30871351, 33450993
Arrhythmogenic Right Ventricular Dysplasia Stimulate 38404225
Atrial Fibrillation Associate 22004663, 30061737
Bohring syndrome Associate 32969603
Cardiac Conduction System Disease Associate 20590677
Cardiomyopathies Associate 19712804, 30871351, 33260757, 33450993, 34273561, 37967257
Cardiomyopathy Dilated Associate 19712804, 20590677, 22004663, 23861363, 26458567, 27105042, 28098235, 30871351, 31583969, 32041989, 32697997, 32905764, 32969603, 33450993, 33941202
View all (10 more)
Cardiomyopathy Dilated with Left Ventricular Noncompaction Associate 33450993, 35893073