Gene Gene information from NCBI Gene database.
Entrez ID 282996
Gene name RNA binding motif protein 20
Gene symbol RBM20
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q25.2
Summary 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.
45
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.
422
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613171 27424 ENSG00000203867
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2689
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy Likely pathogenic; Pathogenic rs267607004, rs2493472844, rs397516607 RCV000852423
RCV003487255
RCV000769275
Cardiovascular phenotype Pathogenic; Likely pathogenic rs267607003, rs267607001, rs267607002, rs267607004, rs796734066, rs397516607 RCV000619200
RCV002408443
RCV003338375
RCV002408444
RCV002411511
RCV002408510
RCV002433499
RCV002409006
Dilated cardiomyopathy 1A Pathogenic rs267607003 RCV001256960
Dilated cardiomyopathy 1DD Likely pathogenic; Pathogenic rs2135050138, rs267607003, rs267607001, rs267607002, rs267607004, rs2493493297, rs2493409912, rs2493412820, rs796734066, rs1554898987, rs397516607, rs1844915022 RCV002077359
RCV000000292
RCV000000293
RCV000000294
RCV000000295
RCV003049556
RCV003855880
RCV004595070
RCV004595077
RCV000472655
RCV000624264
RCV000170520
RCV000647156
RCV001195647
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular cardiomyopathy Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs750988872, rs529403382, rs754805893, rs116908219 RCV000208306
RCV000852424
RCV000622931
RCV000852634
Cardiac arrest Conflicting classifications of pathogenicity rs201370621 RCV005054145
Conduction disorder of the heart Conflicting classifications of pathogenicity rs372567331 RCV001256957
Dilated Cardiomyopathy, Dominant Uncertain significance; Conflicting classifications of pathogenicity rs34371891, rs886046712, rs886046719, rs745346028, rs397516593, rs397516597 RCV000348718
RCV000264728
RCV000309635
RCV000266186
RCV000392741
RCV000271797
Associations from Text MiningDisease 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