• Gene id: 57496

Gene Summary

• Gene Symbol: MRTFB   Gene   UCSC   Ensembl
• Aliases: MKL2, MRTF-B, NPD001
• Gene name: myocardin related transcription factor B
• Alternate names: myocardin-related transcription factor B, CTA-276F8.1, MKL and myocardin family member 2, MKL/myocardin like 2, MKL/myocardin-like protein 2, MKL1/myocardin like 2, megakaryoblastic leukemia 2,
• Gene location: 16p13.12 (14071061: 14266778)     Exons: 11     NC_000016.10
• OMIM: 609463

Protein Summary

• Protein general information: Q9ULH7  
  • Name: Myocardin related transcription factor B (MRTF B) (MKL/myocardin like protein 2) (Megakaryoblastic leukemia 2)
  • Length: 1088  
  • Mass: 118127
• Sequence:

  MIDSSKKQQQGFPEILTAGDFEPLKEKECLEGSNQKSLKEVLQLRLQQRRTREQLVDQGIMPPLKSPAAFHEQIK
  SLERARTENFLKHKIRSRPDRSELVRMHILEETFAEPSLQATQMKLKRARLADDLNEKIAQRPGPMELVEKNILP
  VDSSVKEAIIGVGKEDYPHTQGDFSFDEDSSDALSPDQPASQESQGSAASPSEPKVSESPSPVTTNTPAQFASVS
  PTVPEFLKTPPTADQPPPRPAAPVLPTNTVSSAKPGPALVKQSHPKNPNDKHRSKKCKDPKPRVKKLKYHQYIPP
  DQKGEKNEPQMDSNYARLLQQQQLFLQLQILSQQKQHYNYQTILPAPFKPLNDKNSNSGNSALNNATPNTPRQNT
  STPVRKPGPLPSSLDDLKVSELKTELKLRGLPVSGTKPDLIERLKPYQEVNSSGLAAGGIVAVSSSAIVTSNPEV
  TVALPVTTLHNTVTSSVSTLKAELPPTGTSNATRVENVHSPLPISPSPSEQSSLSTDDTNMADTFTEIMTMMSPS
  QFLSSSPLRMTNNEDSLSPTSSTLSNLELDAAEKDRKLQEKEKQIEELKRKLEQEQKLVEVLKMQLEVEKRGQQQ
  RPLEAQPSAPGHSVKSDQKHGSLGSSIKDEASLPDCSSSRQPIPVASHAVGQPVSTGGQTLVAKKAVVIKQEVPV
  GQAEQQSVVSQFYVSSQGQPPPAVVAQPQALLTTQTAQLLLPVSIQGSSVTSVQLPVGSLKLQTSPQAGMQTQPQ
  IATAAQIPTAALASGLAPTVPQTQDTFPQHVLSQPQQVRKVFTNSASSNTVLPYQRHPAPAVQQPFINKASNSVL
  QSRNAPLPSLQNGPNTPNKPSSPPPPQQFVVQHSLFGSPVAKTKDPPRYEEAIKQTRSTQAPLPEISNAHSQQMD
  DLFDILIKSGEISLPIKEEPSPISKMRPVTASITTMPVNTVVSRPPPQVQMAPPVSLEPMGSLSASLENQLEAFL
  DGTLPSANEIPPLQSSSEDREPFSLIEDLQNDLLSHSGMLDHSHSPMETSETQFAAGTPCLSLDLSDSNLDNMEW
  LDITMPNSSSGLTPLSTTAPSMFSADFLDPQDLPLPWD

• Structural information:
  • Protein Domains: (389..42-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186"-)
  • Interpro: IPR004018  IPR003034  IPR036361  
  • Prosite: PS51073 PS50800
  • STRING: ENSP00000339086
• Other Databases: GeneCards:  MRTFB  Malacards:  MRTFB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0051145	smooth muscle cell differentiation	IBA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045844	positive regulation of striated muscle tissue development	IDA	biological process
GO:0005634	nucleus	IC	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 21412036
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)