Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	57496
Gene name	Myocardin related transcription factor B
Gene symbol	MRTFB
Synonyms (NCBI Gene)	MKL2MRTF-BNPD001
Chromosome	16
Chromosome location	16p13.12

Show/Hide all (23)

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

MIM	HGNC	e!Ensembl
609463	29819	ENSG00000186260

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

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

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

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	28474808	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma Pleomorphic	Associate	20607705	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Associate	29463886	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Associate	20442744	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Associate	26905457	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ethmoid Sinusitis	Associate	33715240	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma	Associate	35763541	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	24968937	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infections	Associate	24968937	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Megakaryoblastic Acute	Associate	20607705	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Teratocarcinosarcoma	Associate	33715240	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	28474808, 29912715, 33715240, 35763541, 40022218	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Associate	28671673	★★★★★ ★☆☆☆☆ Found in Text Mining only

MRTFB (myocardin related transcription factor B)