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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	9242
Gene name	Musculin
Gene symbol	MSC
Synonyms (NCBI Gene)	ABF-1ABF1MYORbHLHa22
Chromosome	8
Chromosome location	8q13.3
Summary	The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006681	hsa-miR-378a-3p	Luciferase reporter assay	21471220
MIRT006681	hsa-miR-378a-3p	Luciferase reporter assay	21471220
MIRT045694	hsa-miR-146a-5p	CLASH	23622248
MIRT489466	hsa-miR-4259	PAR-CLIP	23592263
MIRT489465	hsa-miR-1203	PAR-CLIP	23592263
MIRT489464	hsa-miR-4481	PAR-CLIP	23592263
MIRT489463	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT489462	hsa-miR-571	PAR-CLIP	23592263
MIRT489461	hsa-miR-6789-3p	PAR-CLIP	23592263
MIRT489460	hsa-miR-3180	PAR-CLIP	23592263
MIRT489459	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT489458	hsa-miR-3196	PAR-CLIP	23592263
MIRT489456	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT489457	hsa-miR-1227-5p	PAR-CLIP	23592263
MIRT489455	hsa-miR-4260	PAR-CLIP	23592263
MIRT489454	hsa-miR-7114-5p	PAR-CLIP	23592263
MIRT440211	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440211	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT489464	hsa-miR-4481	PAR-CLIP	27292025
MIRT489463	hsa-miR-4745-5p	PAR-CLIP	27292025
MIRT489454	hsa-miR-7114-5p	PAR-CLIP	27292025
MIRT489466	hsa-miR-4259	PAR-CLIP	23592263
MIRT489465	hsa-miR-1203	PAR-CLIP	23592263
MIRT489464	hsa-miR-4481	PAR-CLIP	23592263
MIRT489463	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT489462	hsa-miR-571	PAR-CLIP	23592263
MIRT489461	hsa-miR-6789-3p	PAR-CLIP	23592263
MIRT489460	hsa-miR-3180	PAR-CLIP	23592263
MIRT489459	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT489458	hsa-miR-3196	PAR-CLIP	23592263
MIRT489456	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT489457	hsa-miR-1227-5p	PAR-CLIP	23592263
MIRT489455	hsa-miR-4260	PAR-CLIP	23592263
MIRT489454	hsa-miR-7114-5p	PAR-CLIP	23592263
MIRT1161127	hsa-miR-2110	CLIP-seq
MIRT1161128	hsa-miR-3188	CLIP-seq
MIRT1161129	hsa-miR-3202	CLIP-seq
MIRT1161130	hsa-miR-4271	CLIP-seq
MIRT1161131	hsa-miR-4428	CLIP-seq
MIRT1161132	hsa-miR-4508	CLIP-seq
MIRT1161133	hsa-miR-4725-3p	CLIP-seq
MIRT1161134	hsa-miR-4738-5p	CLIP-seq
MIRT1161135	hsa-miR-4747-5p	CLIP-seq
MIRT1161136	hsa-miR-4781-5p	CLIP-seq
MIRT1161137	hsa-miR-744	CLIP-seq
MIRT1161138	hsa-miR-939	CLIP-seq
MIRT2574293	hsa-miR-1204	CLIP-seq
MIRT2574294	hsa-miR-1207-5p	CLIP-seq
MIRT2574295	hsa-miR-128	CLIP-seq
MIRT2574296	hsa-miR-1321	CLIP-seq
MIRT2574297	hsa-miR-27a	CLIP-seq
MIRT2574298	hsa-miR-27b	CLIP-seq
MIRT2574299	hsa-miR-3153	CLIP-seq
MIRT2574300	hsa-miR-3185	CLIP-seq
MIRT1161129	hsa-miR-3202	CLIP-seq
MIRT2574301	hsa-miR-3605-3p	CLIP-seq
MIRT2574302	hsa-miR-3920	CLIP-seq
MIRT2574303	hsa-miR-4258	CLIP-seq
MIRT2574304	hsa-miR-4270	CLIP-seq
MIRT1161130	hsa-miR-4271	CLIP-seq
MIRT2574305	hsa-miR-4287	CLIP-seq
MIRT2574306	hsa-miR-4300	CLIP-seq
MIRT1161131	hsa-miR-4428	CLIP-seq
MIRT2574307	hsa-miR-4441	CLIP-seq
MIRT2574308	hsa-miR-4453	CLIP-seq
MIRT2574309	hsa-miR-4469	CLIP-seq
MIRT2574310	hsa-miR-4485	CLIP-seq
MIRT2574311	hsa-miR-4533	CLIP-seq
MIRT2574312	hsa-miR-4538	CLIP-seq
MIRT2574313	hsa-miR-4685-3p	CLIP-seq
MIRT2574314	hsa-miR-4685-5p	CLIP-seq
MIRT2574315	hsa-miR-4709-3p	CLIP-seq
MIRT1161133	hsa-miR-4725-3p	CLIP-seq
MIRT1161134	hsa-miR-4738-5p	CLIP-seq
MIRT2574316	hsa-miR-4739	CLIP-seq
MIRT1161135	hsa-miR-4747-5p	CLIP-seq
MIRT2574317	hsa-miR-4756-5p	CLIP-seq
MIRT2574318	hsa-miR-4763-3p	CLIP-seq
MIRT2574319	hsa-miR-4763-5p	CLIP-seq
MIRT2574320	hsa-miR-4768-5p	CLIP-seq
MIRT2574321	hsa-miR-4778-3p	CLIP-seq
MIRT2574322	hsa-miR-4786-3p	CLIP-seq
MIRT2574323	hsa-miR-483-5p	CLIP-seq
MIRT2574324	hsa-miR-663b	CLIP-seq
MIRT2574325	hsa-miR-920	CLIP-seq
MIRT2574326	hsa-miR-941	CLIP-seq
MIRT2574327	hsa-miR-942	CLIP-seq
MIRT2574294	hsa-miR-1207-5p	CLIP-seq
MIRT2574295	hsa-miR-128	CLIP-seq
MIRT2574297	hsa-miR-27a	CLIP-seq
MIRT2574298	hsa-miR-27b	CLIP-seq
MIRT2574299	hsa-miR-3153	CLIP-seq
MIRT2574300	hsa-miR-3185	CLIP-seq
MIRT1161129	hsa-miR-3202	CLIP-seq
MIRT2574302	hsa-miR-3920	CLIP-seq
MIRT2574303	hsa-miR-4258	CLIP-seq
MIRT1161130	hsa-miR-4271	CLIP-seq
MIRT2574306	hsa-miR-4300	CLIP-seq
MIRT1161131	hsa-miR-4428	CLIP-seq
MIRT2574308	hsa-miR-4453	CLIP-seq
MIRT2574311	hsa-miR-4533	CLIP-seq
MIRT2574312	hsa-miR-4538	CLIP-seq
MIRT2574314	hsa-miR-4685-5p	CLIP-seq
MIRT2574315	hsa-miR-4709-3p	CLIP-seq
MIRT1161133	hsa-miR-4725-3p	CLIP-seq
MIRT1161134	hsa-miR-4738-5p	CLIP-seq
MIRT1161135	hsa-miR-4747-5p	CLIP-seq
MIRT2574318	hsa-miR-4763-3p	CLIP-seq
MIRT2574319	hsa-miR-4763-5p	CLIP-seq
MIRT2574321	hsa-miR-4778-3p	CLIP-seq
MIRT2574322	hsa-miR-4786-3p	CLIP-seq
MIRT2574323	hsa-miR-483-5p	CLIP-seq
MIRT2574325	hsa-miR-920	CLIP-seq
MIRT2574326	hsa-miR-941	CLIP-seq

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Transcription factor	Regulation	Reference
EPAS1	Activation	21081659

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	9584154
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9584154
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9584154
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	9584154
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007519	Process	Skeletal muscle tissue development	IBA
GO:0014707	Process	Branchiomeric skeletal muscle development	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060539	Process	Diaphragm development	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
603628	7321	ENSG00000178860

O60682

Protein name

Musculin (Activated B-cell factor 1) (ABF-1) (Class A basic helix-loop-helix protein 22) (bHLHa22)

Protein function

Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	108 → 160	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in lymphoid tissues, B-cell lines and activated B-cells.

Sequence

MSTGSVSDPEEMELRGLQREYPVPASKRPPLRGVERSYASPSDNSSAEEEDPDGEEERCA
LGTAGSAEGCKRKRPRVAGGGGAGGSAGGGGKKPLPAKGSAAECKQSQRNAANARERARM
RVLSKAFSRLKTSLPWVPPDTKLSKLDTLRLASSYIAHLRQLLQEDRYENGYVHPVNLTW
PFVVSGRPDSDTKEVSAANRLCGTTA

Sequence length

206

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 Unknown Diseases (1)

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.
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	30670911, 38287833	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Associate	36589413	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fetal Alcohol Spectrum Disorders	Associate	37047575	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary leiomyomatosis and renal cell cancer	Associate	12588891	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Associate	12588891, 20519630	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Associate	21088137	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Large Cell Anaplastic	Associate	31101622	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	30333196	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30670911	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	35715447	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Associate	35863510	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	34617815	★★★★★ ★☆☆☆☆ Found in Text Mining only

MSC (musculin)