MYH8 - myosin heavy chain 8 Gene

Also Known as DA7; MyHC-pn; gtMHC-F; MyHC-peri

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4626

About MYH8

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:10,390,322-10,421,950 (from NCBI)

This gene has 1 transcript (splice variant), 94 orthologues, 43 paralogues and is associated with 6 phenotypes. Biased expression in esophagus (RPKM 10.4), prostate (RPKM 1.7) and 1 other tissue.

Summary

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 Myosin heavy chains and 2 pairs of nonidentical Myosin light chains. This gene encodes a member of the class II or conventional Myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of Myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

MYH8 Products (1)

mRNA	Protein	Name
NM_002472.3	NP_002463.2	myosin-8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IMP IMP: Inferred from mutant phenotype	17041932	GOA
enables ATP hydrolysis activity	IMP IMP: Inferred from mutant phenotype	17041932	GOA
enables microfilament motor activity	IMP IMP: Inferred from mutant phenotype	17041932	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ATP metabolic process	IMP IMP: Inferred from mutant phenotype	17041932	GOA
involved in muscle filament sliding	IMP IMP: Inferred from mutant phenotype	17041932	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	17041932	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21370490	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYH8 Protein Structure

Myosin_N

Myosin_head

Myosin_tail_1

0
300
600
900
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1800
1937 a.a.

Protein Preferred Names	Protein Names
myosin-8	fetal-myosin heavy chain

Related Diseases

Diseases	Alias
Carney Complex Variant	Carney Complex Carney Syndrome Carney Complex, Type 1 Lamb Syndrome Name Syndrome Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome Carney Complex - Trismus - Pseudocamptodactyly Syndrome Carney Complex, Type 2 Car Cnc1 Carney Myxoma-Endocrine Complex Myxoma - Spotty Pigmentation - Endocrine Overactivity Myxoma, Spotty Pigmentation, And Endocrine Overactivity Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome Carney Complex-Trismus-Pseudocamptodactyly Syndrome CACOV
Arthrogryposis, Distal, Type 7	Hecht Syndrome Trismus-Pseudocamptodactyly Syndrome Distal Arthrogryposis Type 7 Dutch-Kentucky Syndrome DA7 Hecht-Beals Syndrome Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons Arthrogryposis Distal Type 7 Trismus Pseudocamptodactyly Syndrome Arthrogryposis, Distal, 7
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Myopathy, Distal, 1	Laing Distal Myopathy Laing Early-Onset Distal Myopathy MPD1 Distal Myopathy 1 Myopathy, Distal, Early-Onset, Autosomal Dominant Distal Myopathy Type 1 Gowers Disease Myopathy, Late Distal Hereditary Myopathy Distal, Type 1 Myopathy Distal Early-Onset Autosomal Dominant Myopathy Late Distal Hereditary Myopathy, Distal, Type 1 Welander Distal Myopathy
Snail Allergy
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Arthrogryposis, Distal, Type 2b3	DA2B3 Distal Arthrogryposis Type 2b3 Arthrogryposis, Distal, 2b3
Hyaline Body Myopathy	Myosin Storage Myopathy Autosomal Dominant Hyaline Body Myopathy Myopathy, Myosin Storage
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Myopathy	Muscular Diseases Myopathies
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08907	MYH8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MYH8	MGD	MGI:1339712
Bos taurus	MYH8	VGNC	VGNC:31797
Rattus norvegicus	MYH8	RGD	RGD:620356
Canis familiaris	MYH8	VGNC	VGNC:49929