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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57644
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin heavy chain 7B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYH7B
Synonyms (NCBI Gene) Gene synonyms aliases	MHC14, MYH14, lncMYH7b
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Show/Hide all(6)

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

Show/Hide all(20)

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

MIM	HGNC	e!Ensembl
609928	15906	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

Interactions

View interactions

	KEGG
	Motor proteins Cytoskeleton in muscle cells

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 1	rs1050997719, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Brugada Syndrome	Brugada syndrome	N/A	N/A	GWAS
Congenital finger flexion contractures	Flexion contracture	N/A	N/A	ClinVar
Left ventricular noncompaction	left ventricular noncompaction	N/A	N/A	GenCC
Melanoma	Melanoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bipolar Disorder	Associate	23070075, 26338991
Cardiomegaly	Associate	37081215
Cardiomyopathies	Associate	23800289
Colorectal Neoplasms	Associate	29547645, 33058866
Hearing Loss	Associate	25528277
Isolated Noncompaction of the Ventricular Myocardium	Associate	23800289
Left sided gallbladder	Associate	26965164
Melanoma	Associate	23393597
Myopathies Structural Congenital	Associate	23800289
Myotonia Congenita	Associate	23800289

MYH7B (myosin heavy chain 7B)