Details for: MYH6

Gene ID: 4624

Symbol: MYH6

Ensembl ID: ENSG00000197616

Description: myosin heavy chain 6

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 5.7864
    Cell Significance Index: 444.0400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 3.1016
    Cell Significance Index: 45.7900
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 3.0288
    Cell Significance Index: 8.6800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.7411
    Cell Significance Index: 66.8800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.4483
    Cell Significance Index: 6.4200
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.3482
    Cell Significance Index: 5.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2435
    Cell Significance Index: 6.2600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1160
    Cell Significance Index: 2.8900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.0429
    Cell Significance Index: 0.5500
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.0378
    Cell Significance Index: 0.6100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0012
    Cell Significance Index: 0.3400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0007
    Cell Significance Index: -1.3500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0007
    Cell Significance Index: -1.0600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0009
    Cell Significance Index: -1.2800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0019
    Cell Significance Index: -3.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0045
    Cell Significance Index: -2.8700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0046
    Cell Significance Index: -3.4000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0048
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0066
    Cell Significance Index: -4.1500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0068
    Cell Significance Index: -3.8500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0073
    Cell Significance Index: -1.4600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0099
    Cell Significance Index: -0.2400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0104
    Cell Significance Index: -1.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0106
    Cell Significance Index: -3.8000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0108
    Cell Significance Index: -0.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0113
    Cell Significance Index: -1.5600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0127
    Cell Significance Index: -2.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0150
    Cell Significance Index: -2.7100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0153
    Cell Significance Index: -2.2300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0170
    Cell Significance Index: -3.5900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0236
    Cell Significance Index: -2.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0281
    Cell Significance Index: -3.2200
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: -0.0309
    Cell Significance Index: -0.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0340
    Cell Significance Index: -1.9100
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0398
    Cell Significance Index: -0.5100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0406
    Cell Significance Index: -2.0500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0414
    Cell Significance Index: -4.3100
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0428
    Cell Significance Index: -0.6000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0448
    Cell Significance Index: -0.6700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0483
    Cell Significance Index: -1.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0490
    Cell Significance Index: -0.8400
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0504
    Cell Significance Index: -0.6800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0563
    Cell Significance Index: -1.7800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0587
    Cell Significance Index: -1.6400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0592
    Cell Significance Index: -0.8500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0619
    Cell Significance Index: -4.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0623
    Cell Significance Index: -2.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0684
    Cell Significance Index: -1.9700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0703
    Cell Significance Index: -3.1100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0705
    Cell Significance Index: -2.4700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0713
    Cell Significance Index: -1.9400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0734
    Cell Significance Index: -2.5500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0742
    Cell Significance Index: -2.4300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0750
    Cell Significance Index: -1.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0768
    Cell Significance Index: -2.4500
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.0785
    Cell Significance Index: -0.8600
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: -0.0788
    Cell Significance Index: -0.6800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0805
    Cell Significance Index: -3.0500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0825
    Cell Significance Index: -1.6100
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: -0.0831
    Cell Significance Index: -0.9300
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0846
    Cell Significance Index: -1.0300
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0883
    Cell Significance Index: -1.0400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0884
    Cell Significance Index: -2.3600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0901
    Cell Significance Index: -2.6600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0946
    Cell Significance Index: -1.1700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0978
    Cell Significance Index: -2.4400
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0991
    Cell Significance Index: -1.0800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1043
    Cell Significance Index: -2.0800
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.1064
    Cell Significance Index: -1.3700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1071
    Cell Significance Index: -2.8700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1100
    Cell Significance Index: -3.2300
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.1110
    Cell Significance Index: -1.2700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1134
    Cell Significance Index: -2.4500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1152
    Cell Significance Index: -1.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1197
    Cell Significance Index: -2.5400
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.1199
    Cell Significance Index: -1.3400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1239
    Cell Significance Index: -2.4500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1248
    Cell Significance Index: -3.1800
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1262
    Cell Significance Index: -1.9200
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1272
    Cell Significance Index: -1.7300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1276
    Cell Significance Index: -1.6100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1280
    Cell Significance Index: -2.5700
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1311
    Cell Significance Index: -2.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1313
    Cell Significance Index: -2.8800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1319
    Cell Significance Index: -1.8000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1324
    Cell Significance Index: -2.2300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1330
    Cell Significance Index: -2.0200
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.1354
    Cell Significance Index: -1.4800
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.1359
    Cell Significance Index: -1.7400
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.1369
    Cell Significance Index: -1.8300
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.1377
    Cell Significance Index: -1.9100
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1391
    Cell Significance Index: -2.7200
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1408
    Cell Significance Index: -2.0000
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.1409
    Cell Significance Index: -1.6900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1423
    Cell Significance Index: -2.1000
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1437
    Cell Significance Index: -1.8100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1446
    Cell Significance Index: -3.0900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1491
    Cell Significance Index: -1.7400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1492
    Cell Significance Index: -1.8600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1501
    Cell Significance Index: -1.9000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MYH6 is a member of the myosin heavy chain family, which is essential for muscle contraction and movement. The MYH6 gene encodes for a 484-amino acid protein, myosin-6, which is primarily expressed in cardiac muscle cells, smooth muscle cells, and certain types of immune cells. The protein contains a unique head domain and a long tail domain, which are involved in its interaction with actin filaments and other regulatory proteins. **Pathways and Functions:** The MYH6 gene is involved in several key pathways, including: 1. **Muscle contraction**: Myosin-6 plays a critical role in the sliding filament mechanism of muscle contraction, where it interacts with actin filaments to generate force. 2. **Cardiac muscle development**: MYH6 is essential for the development and maturation of cardiac muscle cells, including the formation of myofibrils and sarcomeres. 3. **Blood pressure regulation**: Myosin-6 is involved in the regulation of blood pressure through its effects on smooth muscle contraction and relaxation. 4. **Immune responses**: MYH6 is expressed in certain immune cells, such as conventional dendritic cells and plasma cells, where it may play a role in the regulation of immune responses. **Clinical Significance:** Dysregulation of the MYH6 gene has been implicated in various cardiovascular and muscular disorders, including: 1. **Hypertrophic cardiomyopathy**: Mutations in the MYH6 gene have been associated with hypertrophic cardiomyopathy, a condition characterized by abnormal thickening of the heart muscle. 2. **Cardiac arrhythmias**: Abnormalities in MYH6 expression have been linked to cardiac arrhythmias, including atrial fibrillation and ventricular tachycardia. 3. **Muscular dystrophy**: Mutations in the MYH6 gene have been associated with certain types of muscular dystrophy, including limb-girdle muscular dystrophy. In conclusion, the MYH6 gene plays a critical role in the development and functioning of the heart, as well as in the regulation of muscle contraction and blood pressure. Its dysregulation has been implicated in various cardiovascular and muscular disorders, highlighting the importance of this gene in maintaining normal physiological function. As an immunologist, I emphasize the need for further research into the mechanisms by which MYH6 regulates immune responses and its potential role in immune-related disorders.

Genular Protein ID: 4203815162

Symbol: MYH6_HUMAN

Name: Myosin-6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1776652

Title: Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences.

PubMed ID: 1776652

DOI: 10.1002/ajmg.1320410435

PubMed ID: 8307559

Title: Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6).

PubMed ID: 8307559

DOI: 10.1016/s0888-7543(11)80006-6

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2726733

Title: Characterization of human cardiac myosin heavy chain genes.

PubMed ID: 2726733

DOI: 10.1073/pnas.86.10.3504

PubMed ID: 3037493

Title: Human cardiac myosin heavy chain genes and their linkage in the genome.

PubMed ID: 3037493

DOI: 10.1093/nar/15.13.5443

PubMed ID: 2969919

Title: Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium.

PubMed ID: 2969919

DOI: 10.1172/jci113627

PubMed ID: 11815426

Title: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

PubMed ID: 11815426

DOI: 10.1161/hc0402.102990

PubMed ID: 15998695

Title: Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.

PubMed ID: 15998695

DOI: 10.1161/circulationaha.104.507699

PubMed ID: 15735645

Title: Mutation in myosin heavy chain 6 causes atrial septal defect.

PubMed ID: 15735645

DOI: 10.1038/ng1526

PubMed ID: 21378987

Title: A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

PubMed ID: 21378987

DOI: 10.1038/ng.781

Sequence Information:

  • Length: 1939
  • Mass: 223735
  • Checksum: 424211CC048C8004
  • Sequence:
  • MTDAQMADFG AAAQYLRKSE KERLEAQTRP FDIRTECFVP DDKEEFVKAK ILSREGGKVI 
    AETENGKTVT VKEDQVLQQN PPKFDKIEDM AMLTFLHEPA VLFNLKERYA AWMIYTYSGL 
    FCVTVNPYKW LPVYNAEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES 
    GAGKTVNTKR VIQYFASIAA IGDRGKKDNA NANKGTLEDQ IIQANPALEA FGNAKTVRND 
    NSSRFGKFIR IHFGATGKLA SADIETYLLE KSRVIFQLKA ERNYHIFYQI LSNKKPELLD 
    MLLVTNNPYD YAFVSQGEVS VASIDDSEEL MATDSAFDVL GFTSEEKAGV YKLTGAIMHY 
    GNMKFKQKQR EEQAEPDGTE DADKSAYLMG LNSADLLKGL CHPRVKVGNE YVTKGQSVQQ 
    VYYSIGALAK AVYEKMFNWM VTRINATLET KQPRQYFIGV LDIAGFEIFD FNSFEQLCIN 
    FTNEKLQQFF NHHMFVLEQE EYKKEGIEWT FIDFGMDLQA CIDLIEKPMG IMSILEEECM 
    FPKATDMTFK AKLYDNHLGK SNNFQKPRNI KGKQEAHFSL IHYAGTVDYN ILGWLEKNKD 
    PLNETVVALY QKSSLKLMAT LFSSYATADT GDSGKSKGGK KKGSSFQTVS ALHRENLNKL 
    MTNLRTTHPH FVRCIIPNER KAPGVMDNPL VMHQLRCNGV LEGIRICRKG FPNRILYGDF 
    RQRYRILNPV AIPEGQFIDS RKGTEKLLSS LDIDHNQYKF GHTKVFFKAG LLGLLEEMRD 
    ERLSRIITRM QAQARGQLMR IEFKKIVERR DALLVIQWNI RAFMGVKNWP WMKLYFKIKP 
    LLKSAETEKE MATMKEEFGR IKETLEKSEA RRKELEEKMV SLLQEKNDLQ LQVQAEQDNL 
    NDAEERCDQL IKNKIQLEAK VKEMNERLED EEEMNAELTA KKRKLEDECS ELKKDIDDLE 
    LTLAKVEKEK HATENKVKNL TEEMAGLDEI IAKLTKEKKA LQEAHQQALD DLQVEEDKVN 
    SLSKSKVKLE QQVDDLEGSL EQEKKVRMDL ERAKRKLEGD LKLTQESIMD LENDKLQLEE 
    KLKKKEFDIN QQNSKIEDEQ VLALQLQKKL KENQARIEEL EEELEAERTA RAKVEKLRSD 
    LSRELEEISE RLEEAGGATS VQIEMNKKRE AEFQKMRRDL EEATLQHEAT AAALRKKHAD 
    SVAELGEQID NLQRVKQKLE KEKSEFKLEL DDVTSNMEQI IKAKANLEKV SRTLEDQANE 
    YRVKLEEAQR SLNDFTTQRA KLQTENGELA RQLEEKEALI SQLTRGKLSY TQQMEDLKRQ 
    LEEEGKAKNA LAHALQSARH DCDLLREQYE EETEAKAELQ RVLSKANSEV AQWRTKYETD 
    AIQRTEELEE AKKKLAQRLQ DAEEAVEAVN AKCSSLEKTK HRLQNEIEDL MVDVERSNAA 
    AAALDKKQRN FDKILAEWKQ KYEESQSELE SSQKEARSLS TELFKLKNAY EESLEHLETF 
    KRENKNLQEE ISDLTEQLGE GGKNVHELEK VRKQLEVEKL ELQSALEEAE ASLEHEEGKI 
    LRAQLEFNQI KAEIERKLAE KDEEMEQAKR NHQRVVDSLQ TSLDAETRSR NEVLRVKKKM 
    EGDLNEMEIQ LSHANRMAAE AQKQVKSLQS LLKDTQIQLD DAVRANDDLK ENIAIVERRN 
    NLLQAELEEL RAVVEQTERS RKLAEQELIE TSERVQLLHS QNTSLINQKK KMESDLTQLQ 
    SEVEEAVQEC RNAEEKAKKA ITDAAMMAEE LKKEQDTSAH LERMKKNMEQ TIKDLQHRLD 
    EAEQIALKGG KKQLQKLEAR VRELEGELEA EQKRNAESVK GMRKSERRIK ELTYQTEEDK 
    KNLLRLQDLV DKLQLKVKAY KRQAEEAEEQ ANTNLSKFRK VQHELDEAEE RADIAESQVN 
    KLRAKSRDIG AKQKMHDEE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.