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
GO:0003713	Function	Transcription coactivator activity	IDA	14565952
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IGI	23764775
GO:0005515	Function	Protein binding	IPI	12397177, 14565952
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	14565952
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0030154	Process	Cell differentiation	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
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14565952
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IBA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099159	Process	Regulation of modification of postsynaptic structure	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IGI	23764775

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
MRTFB-related disorder	Pathogenic	rs2544865527, rs2544853698	RCV003099146 RCV003099147	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	28623279		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28474808		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	29463886	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20442744, 29335431		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20442744		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	20442744	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	CTD_human_DG	20442744		★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	26905457	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30301666		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	23085629		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23692340		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	CTD_human_DG	20442744		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29335431		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29266774		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	28671673	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29335431		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	17947237		★☆☆☆☆ Found in Text Mining only