MYH7B myosin heavy chain 7B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH7Bprovided by HGNC
Official Full Name: myosin heavy chain 7Bprovided by HGNC
Primary source: HGNC:HGNC:15906
See related: Ensembl:ENSG00000078814 MIM:609928; AllianceGenome:HGNC:15906
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MHC14; MYH14; lncMYH7b
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, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]
Expression: Biased expression in heart (RPKM 13.9), testis (RPKM 3.7) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 47

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (34955868..35002437)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (36676523..36723074)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (33543671..33590240)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b.
Title: Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b.
Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles.
Title: Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles.
Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heart.
Title: Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heart.
The actin-based motor myosin-7b (Myo7b) promotes the accumulation of intermicrovillar adhesion complex (IMAC components at microvillar tips. Myo7b is highly enriched at the tips of microvilli in both kidney and intestinal brush borders, and loss of Myo7b in differentiating intestinal epithelial cells disrupts intermicrovillar adhesion and, thus, brush border assembly.
Title: Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex.
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. [MYH7B]
Title: Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population.
Data suggest that transcription and alternative splicing uncouple the level of expression of MYH7b and miR-499 when their coexpression is not required.
Title: Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping.
MYH7b, the ortholog of slow myosin 2 (SM2) of frogs and birds, is detected as mRNA in heart, slow muscles and extraocular muscles. MYH7b protein is detected only in a subset of fibers, corresponding to slow-tonic fibers, in extraocular muscles.
Title: Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles.
Observational study of gene-disease association. (HuGE Navigator)
Title: Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of the Protein C anticoagulant pathway. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15946 (e-PCR)
- UniSTS:6673

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

G54056 (e-PCR)
- UniSTS:109438

NoName (e-PCR)
- UniSTS:481158

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of CAMKK-AMPK signaling cascade	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cardiac myofibril	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myosin filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myosin-7B

Names: U937-associated antigen; antigen MLAA-21; myosin, heavy chain 7B, cardiac muscle, beta; myosin, heavy polypeptide 7B, cardiac muscle, beta; slow A MYH14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016984.2 RefSeqGene

Range

4968..51537

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020884.7 → NP_065935.4 myosin-7B

Status: REVIEWED

Source sequence(s)

AL132825, AL133324, BC007808, BC151242, DB484143

Consensus CDS

CCDS42869.2

UniProtKB/Swiss-Prot

A0A6E1W127, A7E2Y1, Q5JVW7, Q6NT44, Q6NT57, Q6WG75, Q96I57, Q9NWE2, Q9P216

Related

ENSP00000262873.8, ENST00000262873.13

Conserved Domains (4) summary

COG1196
Location:970 → 1806

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

PRK12704
Location:1756 → 1897

PRK12704; phosphodiesterase; Provisional

TIGR02169
Location:851 → 1058

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

cd14927
Location:98 → 773

MYSc_Myh7b; class II myosin heavy chain 7b, motor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

34955868..35002437

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440336.1 → XP_047296292.1 myosin-7B isoform X1
XM_047440337.1 → XP_047296293.1 myosin-7B isoform X2
XM_047440338.1 → XP_047296294.1 myosin-7B isoform X4
XM_006723840.4 → XP_006723903.1 myosin-7B isoform X3

UniProtKB/Swiss-Prot

A0A6E1W127, A7E2Y1, Q5JVW7, Q6NT44, Q6NT57, Q6WG75, Q96I57, Q9NWE2, Q9P216

Conserved Domains (9) summary

cd14927
Location:140 → 815

MYSc_Myh7b; class II myosin heavy chain 7b, motor domain

pfam00063
Location:129 → 815

Myosin_head; Myosin head (motor domain)

pfam01576
Location:895 → 1972

Myosin_tail_1; Myosin tail

pfam02736
Location:75 → 113

Myosin_N; Myosin N-terminal SH3-like domain

pfam06273
Location:1088 → 1145

eIF-4B; Plant specific eukaryotic initiation factor 4B

cd16269
Location:1861 → 1872

GBP_C; coiled coil [structural motif]

cl19842
Location:959 → 1050

DUF2213; Uncharacterized protein conserved in bacteria (DUF2213)

cl19872
Location:1677 → 1927

DUF885; Bacterial protein of unknown function (DUF885)

cl20817
Location:1779 → 1872

GBP_C; Guanylate-binding protein, C-terminal domain
XM_047440339.1 → XP_047296295.1 myosin-7B isoform X5
XM_047440340.1 → XP_047296296.1 myosin-7B isoform X6
XM_047440341.1 → XP_047296297.1 myosin-7B isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

36676523..36723074

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323779.1 → XP_054179754.1 myosin-7B isoform X1
XM_054323780.1 → XP_054179755.1 myosin-7B isoform X2
XM_054323782.1 → XP_054179757.1 myosin-7B isoform X4
XM_054323781.1 → XP_054179756.1 myosin-7B isoform X3
XM_054323783.1 → XP_054179758.1 myosin-7B isoform X5
XM_054323784.1 → XP_054179759.1 myosin-7B isoform X6
XM_054323785.1 → XP_054179760.1 myosin-7B isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_033424.1: Suppressed sequence

Description

NM_033424.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.