• Gene id: 282996

Gene Summary

• Gene Symbol: RBM20   Gene   UCSC   Ensembl
• Gene name: RNA binding motif protein 20
• Alternate names: RNA-binding protein 20, probable RNA-binding protein 20,
• Gene location: 10q25.2 (110641932: 110839470)     Exons: 16     NC_000010.11
• Gene summary(Entrez): 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]
• OMIM: 612220

Protein Summary

• Protein general information: Q5T481  
  • Name: RNA binding protein 20 (RNA binding motif protein 20)
  • Length: 1227  
  • Mass: 134357
  • Tissue specificity: Expressed in the heart. {ECO
• Sequence:

  MVLAAAMSQDADPSGPEQPDRVACSVPGARASPAPSGPRGMQQPPPPPQPPPPPQAGLPQIIQNAAKLLDKNPFS
  VSNPNPLLPSPASLQLAQLQAQLTLHRLKLAQTAVTNNTAAATVLNQVLSKVAMSQPLFNQLRHPSVITGPHGHA
  GVPQHAAAIPSTRFPSNAIAFSPPSQTRGPGPSMNLPNQPPSAMVMHPFTGVMPQTPGQPAVILGIGKTGPAPAT
  AGFYEYGKASSGQTYGPETDGQPGFLPSSASTSGSVTYEGHYSHTGQDGQAAFSKDFYGPNSQGSHVASGFPAEQ
  AGGLKSEVGPLLQGTNSQWESPHGFSGQSKPDLTAGPMWPPPHNQPYELYDPEEPTSDRTPPSFGGRLNNSKQGF
  IGAGRRAKEDQALLSVRPLQAHELNDFHGVAPLHLPHICSICDKKVFDLKDWELHVKGKLHAQKCLVFSENAGIR
  CILGSAEGTLCASPNSTAVYNPAGNEDYASNLGTSYVPIPARSFTQSSPTFPLASVGTTFAQRKGAGRVVHICNL
  PEGSCTENDVINLGLPFGKVTNYILMKSTNQAFLEMAYTEAAQAMVQYYQEKSAVINGEKLLIRMSKRYKELQLK
  KPGKAVAAIIQDIHSQRERDMFREADRYGPERPRSRSPVSRSLSPRSHTPSFTSCSSSHSPPGPSRADWGNGRDS
  WEHSPYARREEERDPAPWRDNGDDKRDRMDPWAHDRKHHPRQLDKAELDERPEGGRPHREKYPRSGSPNLPHSVS
  SYKSREDGYYRKEPKAKWDKYLKQQQDAPGRSRRKDEARLRESRHPHPDDSGKEDGLGPKVTRAPEGAKAKQNEK
  NKTKRTDRDQEGADDRKENTMAENEAGKEEQEGMEESPQSVGRQEKEAEFSDPENTRTKKEQDWESESEAEGESW
  YPTNMEELVTVDEVGEEEDFIVEPDIPELEEIVPIDQKDKICPETCLCVTTTLDLDLAQDFPKEGVKAVGNGAAE
  ISLKSPRELPSASTSCPSDMDVEMPGLNLDAERKPAESETGLSLEDSDCYEKEAKGVESSDVHPAPTVQQMSSPK
  PAEERARQPSPFVDDCKTRGTPEDGACEGSPLEEKASPPIETDLQNQACQEVLTPENSRYVEMKSLEVRSPEYTE
  VELKQPLSLPSWEPEDVFSELSIPLGVEFVVPRTGFYCKLCGLFYTSEETAKMSHCRSAVHYRNLQKYLSQLAEE
  GLKETEGADSPRPEDSGIVPRFERKKL

• Structural information:
  • Protein Domains: (518..59-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR000690  IPR003604  IPR012677  IPR035979  IPR034791   IPR034790  IPR000504  
  • Prosite: PS50102 PS50171
  • CDD: cd12685
  • STRING: ENSP00000358532
• Other Databases: GeneCards:  RBM20  Malacards:  RBM20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033120	positive regulation of RNA splicing	IBA	biological process
GO:0006417	regulation of translation	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0033120	positive regulation of RNA splicing	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003723	RNA binding	ISS	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0033120	positive regulation of RNA splicing	IEA	biological process
GO:0033120	positive regulation of RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Dilated cardiomyopathy	KEGG:H00294
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq