MRTFB (myocardin related transcription factor B)

Gene

• Entrez ID: 57496
• Gene name: Myocardin related transcription factor B
• Gene symbol: MRTFB
• Synonyms (NCBI Gene): MKL2, MRTF-B, NPD001
• Chromosome: 16
• Chromosome location: 16p13.12

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	IDA	14565952
GO:0005515	Function	Protein binding	IPI	12397177, 14565952
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IC	14565952
GO:0007517	Process	Muscle organ development	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045844	Process	Positive regulation of striated muscle tissue development	IDA	14565952
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14565952
GO:0051145	Process	Smooth muscle cell differentiation	IBA	21873635

Other IDs

• MIM: 609463
• HGNC: 29819
• e!Ensembl: ENSG00000186260

Protein

• UniProt ID: Q9ULH7
• Protein name: Myocardin-related transcription factor B (MRTF-B) (MKL/myocardin-like protein 2) (Megakaryoblastic leukemia 2)
• Protein function: Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02755	RPEL	85 → 108	RPEL repeat	Disordered
  PF02755	RPEL	129 → 152	RPEL repeat	Disordered
  PF02037	SAP	389 → 423	SAP domain	Family

• Sequence:

  MIDSSKKQQQGFPEILTAGDFEPLKEKECLEGSNQKSLKEVLQLRLQQRRTREQLVDQGI
  MPPLKSPAAFHEQIKSLERARTENFLKHKIRSRPDRSELVRMHILEETFAEPSLQATQMK
  LKRARLADDLNEKIAQRPGPMELVEKNILPVDSSVKEAIIGVGKEDYPHTQGDFSFDEDS
  SDALSPDQPASQESQGSAASPSEPKVSESPSPVTTNTPAQFASVSPTVPEFLKTPPTADQ
  PPPRPAAPVLPTNTVSSAKPGPALVKQSHPKNPNDKHRSKKCKDPKPRVKKLKYHQYIPP
  DQKGEKNEPQMDSNYARLLQQQQLFLQLQILSQQKQHYNYQTILPAPFKPLNDKNSNSGN
  SALNNATPNTPRQNTSTPVRKPGPLPSSLDDLKVSELKTELKLRGLPVSGTKPDLIERLK
  PYQEVNSSGLAAGGIVAVSSSAIVTSNPEVTVALPVTTLHNTVTSSVSTLKAELPPTGTS
  NATRVENVHSPLPISPSPSEQSSLSTDDTNMADTFTEIMTMMSPSQFLSSSPLRMTNNED
  SLSPTSSTLSNLELDAAEKDRKLQEKEKQIEELKRKLEQEQKLVEVLKMQLEVEKRGQQQ
  RPLEAQPSAPGHSVKSDQKHGSLGSSIKDEASLPDCSSSRQPIPVASHAVGQPVSTGGQT
  LVAKKAVVIKQEVPVGQAEQQSVVSQFYVSSQGQPPPAVVAQPQALLTTQTAQLLLPVSI
  QGSSVTSVQLPVGSLKLQTSPQAGMQTQPQIATAAQIPTAALASGLAPTVPQTQDTFPQH
  VLSQPQQVRKVFTNSASSNTVLPYQRHPAPAVQQPFINKASNSVLQSRNAPLPSLQNGPN
  TPNKPSSPPPPQQFVVQHSLFGSPVAKTKDPPRYEEAIKQTRSTQAPLPEISNAHSQQMD
  DLFDILIKSGEISLPIKEEPSPISKMRPVTASITTMPVNTVVSRPPPQVQMAPPVSLEPM
  GSLSASLENQLEAFLDGTLPSANEIPPLQSSSEDREPFSLIEDLQNDLLSHSGMLDHSHS
  PMETSETQFAAGTPCLSLDLSDSNLDNMEWLDITMPNSSSGLTPLSTTAPSMFSADFLDP
  QDLPLPWD

• Sequence length: 1088

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism spectrum disorder	Pervasive Development Disorder	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	20442744

Unknown
Disease term	Disease name	Evidence	References	Source
Neurodevelopmental Disorders	neurodevelopmental disorder			GenCC
Ischemic Stroke	Ischemic Stroke			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	28474808
Adenoma Pleomorphic	Associate	20607705
Apraxias	Associate	29463886
Autistic Disorder	Associate	20442744
Conjunctival Diseases	Associate	26905457
Ethmoid Sinusitis	Associate	33715240
Hamartoma	Associate	35763541
HIV Infections	Associate	24968937
Infections	Associate	24968937
Leukemia Megakaryoblastic Acute	Associate	20607705
Malignant Teratocarcinosarcoma	Associate	33715240
Neoplasms	Associate	28474808, 29912715, 33715240, 35763541, 40022218
Sarcoma Ewing	Associate	28671673