MYH7B (myosin heavy chain 7B)

Gene

• Entrez ID: 57644
• Gene name: Myosin heavy chain 7B
• Gene symbol: MYH7B
• Synonyms (NCBI Gene): MHC14, MYH14, lncMYH7b
• Chromosome: 20
• Chromosome location: 20q11.22
• Summary: The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, whic

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs764950910	->CGGGC	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs771172991	AG>-	Pathogenic	Splice donor variant, coding sequence variant
rs1050997719	G>A,C	Pathogenic	Splice donor variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs1417887060	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1430282035	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1600462474	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1600477808	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600480573	G>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022547	hsa-miR-124-3p	Microarray	18668037
MIRT2277375	hsa-miR-19a	CLIP-seq
MIRT2277376	hsa-miR-19b	CLIP-seq
MIRT2277377	hsa-miR-3166	CLIP-seq
MIRT2277378	hsa-miR-576-3p	CLIP-seq
MIRT2277379	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	23455924, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0016020	Component	Membrane	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0030016	Component	Myofibril	IEA
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0050848	Process	Regulation of calcium-mediated signaling	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0097512	Component	Cardiac myofibril	IEA
GO:1905289	Process	Regulation of CAMKK-AMPK signaling cascade	IEA

Other IDs

• MIM: 609928
• HGNC: 15906
• e!Ensembl: ENSG00000078814

Protein

• UniProt ID: A7E2Y1
• Protein name: Myosin-7B (Antigen MLAA-21) (Myosin cardiac muscle beta chain) (Myosin heavy chain 7B, cardiac muscle beta isoform) (Slow A MYH14)
• Protein function: Involved in muscle contraction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02736	Myosin_N	74 → 114	Myosin N-terminal SH3-like domain	Domain
  PF00063	Myosin_head	128 → 815	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	892 → 1973	Myosin tail	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, testis, and all specific brain regions examined. Slightly lower expression was detected in ovary and kidney, and intermediate expression was detected in lung, pancreas, spleen and liver. {ECO:000026
• Sequence:

  MSGNKRGSRASCPHRGAECLLPWAALNLQGFQLLLLHPSATAMMDVSELGESARYLRQGY
  QEMTKVHTIPWDGKKRVWVPDEQDAYVEAEVKSEATGGRVTVETKDQKVLMVREAELQPM
  NPPRFDLLEDMAMMTHLNEASVLHNLRQRYARWMIYTYSGLFCVTINPYKWLPVYTASVV
  AAYKGKRRSDSPPHIYAVADNAYNDMLRNRDNQSMLITGESGAGKTVNTKRVIQYFAIVA
  ALGDGPGKKAQFLATKTGGTLEDQIIEANPAMEAFGNAKTLRNDNSSRFGKFIRIHFGPS
  GKLASADIDSYLLEKSRVIFQLPGERSYHVYYQILSGRKPELQDMLLLSMNPYDYHFCSQ
  GVITVDNMNDGEELIATDHAMDILGFSVDEKCACYKIVGALLHFGNMKFKQKQREEQAEA
  DGTESADKAAYLMGVSSGDLLKGLLHPRVRVGNEYVTKGQSVEQVVFAVGALAKATYDRL
  FRWLVSRINQTLDTKLPRQFFIGVLDIAGFEIFEFNSFEQLCINFTNEKLQQFFNQHMFV
  LEQEEYKREGIDWVFIDFGLDLQPCIDLIEKPLGILSILEEECMFPKASDASFRAKLYDN
  HAGKSPNFQQPRPDKKRKYQAHFEVVHYAGVVPYSIVGWLEKNKDPLNETVVPIFQKSQN
  RLLATLYENYAGSCSTEPPKSGVKEKRKKAASFQTVSQLHKENLNKLMTNLRATQPHFVR
  CIVPNENKTPGVMDAFLVLHQLRCNGVLEGIRICRQGFPNRLLYTDFRQRYRILNPSAIP
  DDTFMDSRKATEKLLGSLDLDHTQYQFGHTKVFFKAGLLGVLEELRDQRLAKVLTLLQAR
  SRGRLMRLEYQRLLGGRDALFTIQWNIRAFNAVKNWSWMKLFFKMKPLLRSAQAEEELAA
  LRAELRGLRGALAAAEAKRQELEETHVSITQEKNDLALQLQAEQDNLADAEERCHLLIKS
  KVQLEGKVKELSERLEDEEEVNADLAARRRKLEDECTELKKDIDDLELTLAKAEKEKQAT
  ENKVKNLTEEMAALDESVARLTKEKKALQEAHQQALGDLQAEEDRVSALTKAKLRLEQQV
  EDLECSLEQEKKLRMDTERAKRKLEGDLKLTQESVADAAQDKQQLEEKLKKKDSELSQLS
  LRVEDEQLLGAQMQKKIKELQARAEELEEELEAERAARARVEKQRAEAARELEELSERLE
  EAGGASAGQREGCRKREAELGRLRRELEEAALRHEATVAALRRKQAEGAAELGEQVDSLQ
  RVRQKLEKEKSELRMEVDDLAANVETLTRAKASAEKLCRTYEDQLSEAKIKVEELQRQLA
  DASTQRGRLQTESGELSRLLEEKECLISQLSRGKALAAQSLEELRRQLEEESKAKSALAH
  AVQALRHDCDLLREQHEEEAEAQAELQRLLSKANAEVAQWRSKYEADAIQRTEELEEAKK
  KLALRLQEAEEGVEAANAKCSSLEKAKLRLQTESEDVTLELERATSAAAALDKKQRHLER
  ALEERRRQEEEMQRELEAAQRESRGLGTELFRLRHGHEEALEALETLKRENKNLQEEISD
  LTDQVSLSGKSIQELEKTKKALEGEKSEIQAALEEAEGALELEETKTLRIQLELSQVKAE
  VDRKLAEKDEECANLRRNHQRAVESLQASLDAETRARNEALRLKKKMEGDLNDLELQLGH
  ATRQATEAQAATRLMQAQLKEEQAGRDEEQRLAAELHEQAQALERRASLLAAELEELRAA
  LEQGERSRRLAEQELLEATERLNLLHSQNTGLLNQKKKLEADLAQLSGEVEEAAQERREA
  EEKAKKAITDAAMMAEELKKEQDTSAHLERMKKTLEQTVRELQARLEEAEQAALRGGKKQ
  VQKLEAKVRELEAELDAEQKKHAEALKGVRKHERRVKELAYQAEEDRKNLARMQDLVDKL
  QSKVKSYKRQFEEAEQQANTNLAKYRKAQHELDDAEERADMAETQANKLRARTRDALGPK
  HKE

• Sequence length: 1983

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

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
Dilated cardiomyopathy with left ventricular noncompaction	Likely pathogenic	rs2519203450	RCV004586438	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic	rs2519203450	RCV004586438	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 1	Likely pathogenic; Pathogenic	rs2519197917, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719	RCV003323327 RCV000991033 RCV000991029 RCV000991030 RCV000991031 RCV000991035 RCV000991032 RCV000991034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature	Likely pathogenic	rs1430282035	RCV000736175	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYH7B-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar disorder	Pubtator	23070075, 26338991	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37081215	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23800289, 31364453		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	23800289	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	31364453		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29547645		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29547645, 33058866	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	23800289		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	23800289		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21693730		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25528277	Associate	★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	GWASCAT_DG	26965164		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 2	Hypoplastic Left Heart Syndrome	GWASCAT_DG	26965164		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	23800289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	23800289		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	GWASDB_DG	18488026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	21693730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	23393597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	GWASCAT_DG	28212542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonia Congenita	Myotonia congenita	Pubtator	23800289	Associate	★☆☆☆☆ Found in Text Mining only