KEGG   Homo sapiens (human): 4624Help
Entry
4624              CDS       T01001                                 

Gene name
MYH6, ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC
Definition
(RefSeq) myosin heavy chain 6
  KO
K17751  myosin heavy chain 6/7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04022  cGMP-PKG signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04919  Thyroid hormone signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05414  Dilated cardiomyopathy (DCM)
hsa05416  Viral myocarditis
Network
nt06322  TRH-TSH-TH signaling
  Element
N00798  Thyroid hormone signaling pathway
N00800  Mutation-inactivated THRB to thyroid hormone signaling pathway
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H00546  Atrial septal defect
Drug target
Imciromab pentetate: D04510
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04022 cGMP-PKG signaling pathway
    4624 (MYH6)
 09150 Organismal Systems
  09152 Endocrine system
   04919 Thyroid hormone signaling pathway
    4624 (MYH6)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    4624 (MYH6)
   04261 Adrenergic signaling in cardiomyocytes
    4624 (MYH6)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    4624 (MYH6)
   05414 Dilated cardiomyopathy (DCM)
    4624 (MYH6)
   05416 Viral myocarditis
    4624 (MYH6)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4624 (MYH6)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Myosins
     4624 (MYH6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Myosin_head Myosin_tail_1 Myosin_N AAA_22 IQ AAA_16
Motif
Other DBs
NCBI-GeneID: 4624
NCBI-ProteinID: NP_002462
OMIM: 160710
HGNC: 7576
Ensembl: ENSG00000197616
Vega: OTTHUMG00000028753
Pharos: P13533(Tbio)
UniProt: P13533
Position
14q11.2
AA seq 1939 aa AA seqDB search
MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVI
AETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGL
FCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRND
NSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLD
MLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHY
GNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQ
VYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECM
FPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKD
PLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKL
MTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDF
RQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRD
ERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP
LLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNL
NDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLE
LTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVN
SLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEE
KLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSD
LSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANE
YRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQ
LEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETD
AIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAA
AAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETF
KRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKI
LRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKM
EGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRN
NLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQ
SEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLD
EAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDK
KNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVN
KLRAKSRDIGAKQKMHDEE
NT seq 5820 nt NT seq  +upstreamnt  +downstreamnt
atgaccgatgcccagatggctgactttggggcagcggcccagtacctccgcaagtcagag
aaggagcgtctagaggcccagacccggccctttgacattcgcactgagtgcttcgtgccc
gatgacaaggaagagtttgtcaaagccaagattttgtcccgggagggaggcaaggtcatt
gctgaaaccgagaatgggaagacggtgactgtgaaggaggaccaggtgttgcagcagaac
ccacccaagttcgacaagattgaggacatggccatgctgaccttcctgcacgagcccgcg
gtgcttttcaacctcaaggagcgctacgcggcctggatgatatatacctactcgggcctc
ttctgtgtcactgtcaacccctacaagtggctgccggtgtacaatgccgaggtggtggcc
gcctaccggggcaagaagaggagtgaggccccgccccacatcttctccatctccgacaac
gcctatcagtacatgctgacagatcgggagaaccagtccatcctcatcacgggagaatcc
ggggcggggaagactgtgaacaccaagcgtgtcatccagtactttgccagcattgcagcc
ataggtgaccgtggcaagaaggacaatgccaatgcgaacaagggcaccctggaggaccag
atcatccaggccaaccccgctctggaggccttcggcaatgccaagactgtccggaacgac
aactcctcccgctttgggaaattcattaggatccactttggggccactggaaagctggct
tctgcagacatagagacctacctgctggagaagtcccgggtgatcttccagctgaaagct
gagagaaactaccacatcttctaccagattctgtccaacaagaagccggagttgctggac
atgctgctggtcaccaacaatccctacgactacgccttcgtgtctcagggagaggtgtcc
gtggcctccattgatgactccgaggagctcatggccaccgatagtgcctttgacgtgctg
ggcttcacttcagaggagaaagctggcgtctacaagctgacgggagccatcatgcactac
gggaacatgaagttcaagcagaagcagcgggaggagcaggcggagccagacggcaccgaa
gatgctgacaagtcggcctacctcatggggctgaactcagctgacctgctcaaggggctg
tgccaccctcgggtgaaagtgggcaacgagtatgtcaccaaggggcagagcgtgcagcag
gtgtactactccatcggggctctggccaaggcagtgtatgagaagatgttcaactggatg
gtgacgcgcatcaacgccaccctggagaccaagcagccacgccagtacttcataggagtc
ctggacatcgctggcttcgagatcttcgacttcaacagctttgagcagctctgcatcaac
ttcaccaacgagaagctgcagcagttcttcaaccaccacatgttcgtgctggagcaggag
gagtacaagaaggagggcattgagtggacattcattgactttggcatggacctgcaggcc
tgcattgacctcatcgagaagcccatgggcatcatgtccatcctggaggaggagtgcatg
ttccccaaggccactgacatgaccttcaaggccaagctgtacgacaaccacctgggcaag
tccaacaatttccagaagccacgcaacatcaaggggaagcaggaagcccacttctccctg
atccactacgccggcactgtggactacaacatcctgggctggctggaaaaaaacaaggat
cctctcaacgagactgttgtggccctgtaccagaagtcctccctcaagctcatggccact
ctcttctcctcctacgcaactgccgatactggggacagtggtaaaagcaaaggaggcaag
aaaaagggctcatccttccagacggtgtcggctctccaccgggaaaatctcaacaagcta
atgaccaacctgaggaccacccatcctcactttgtgcgttgcatcatccccaatgagcgg
aaggctccaggggtgatggacaaccccctggtcatgcaccagctgcgctgcaatggcgtg
ctggagggcatccgcatctgcaggaagggcttccccaaccgcatcctctacggggacttc
cggcagaggtatcgcatcctgaacccagtggccatccctgagggacagttcattgatagc
aggaaggggacagagaagctgctcagctctctggacattgatcacaaccagtacaagttt
ggccacaccaaggtgttcttcaaggcagggctgcttgggctgctggaggagatgcgggat
gagaggctgagccgcatcatcacgcgcatgcaggcccaagcccggggccagctcatgcgc
attgagttcaagaagatagtggaacgcagggatgccctgctggtaatccagtggaacatt
cgggccttcatgggggtcaagaattggccctggatgaagctctacttcaagatcaagccg
ctgctgaagagcgcagagacggagaaggagatggccaccatgaaggaagagttcgggcgc
atcaaagagacgctggagaagtccgaggctcgccgcaaggagctggaggagaagatggtg
tccctgctgcaggagaagaatgacctgcagctccaagtgcaggcggaacaagacaacctc
aatgatgctgaggagcgctgcgaccagctgatcaaaaacaagattcagctggaggccaaa
gtaaaggagatgaatgagaggctggaggatgaggaggagatgaacgcggagctcactgcc
aagaagcgcaagctggaagacgagtgctcagagctcaagaaggacattgatgacctggag
ctgacactggccaaggtggagaaggagaagcatgcaacagagaacaaggtgaagaaccta
acagaggagatggctgggctggatgaaatcatcgctaagctgaccaaggagaagaaagct
ctacaagaggcccatcagcaggccctggatgaccttcaggttgaggaagacaaggtcaac
agcctgtccaagtctaaggtcaagctggagcagcaggtggatgatctggagggatcccta
gagcaagagaagaaggtgcgcatggacctggagcgagcaaagcggaaactggagggcgac
ctgaagctgacccaggagagcatcatggacctggaaaatgataaactgcagctggaagaa
aagcttaagaagaaggagtttgacattaatcagcagaacagtaagattgaggatgagcag
gtgctggcccttcaactacagaagaaactgaaggaaaaccaggcacgcatcgaggagctg
gaggaggagctggaggccgagcgcaccgccagggctaaggtggagaagctgcgctcagac
ctgtctcgggagctggaggagatcagcgagcggctggaagaggccggcggggccacgtcc
gtgcagatcgagatgaacaagaagcgcgaggccgagttccagaagatgcggcgggacctg
gaggaggccacgctgcagcacgaggccactgccgcggccctgcgcaagaagcacgccgac
agcgtggccgagctgggcgagcagatcgacaacctgcagcgggtgaagcagaagctggag
aaggagaagagcgagttcaagctggagctggatgacgtcacctccaacatggagcagatc
atcaaggccaaggcaaacctggagaaagtgtctcggacgctggaggaccaggccaatgag
taccgcgtgaagctagaagaggcccaacgctccctcaatgatttcaccacccagcgagcc
aagctgcagaccgagaatggagagttggcccggcagctagaggaaaaggaggcgctaatc
tcgcagctgacccgggggaagctctcttatacccagcaaatggaggacctcaaaaggcag
ctggaggaggagggcaaggcgaagaacgccctggcccatgcactgcagtcggcccggcat
gactgcgacctgctgcgggagcagtacgaggaggagacagaggccaaggccgagctgcag
cgcgtcctgtccaaggccaactcggaggtggcccagtggaggaccaagtatgagacggac
gccattcagcggactgaggagctcgaagaggccaaaaagaagctggcccagcggctgcag
gatgccgaggaggccgtggaggctgttaatgccaagtgctcctcactggagaagaccaag
caccggctacagaatgagatagaggacttgatggtggacgtagagcgctccaatgctgct
gctgcagccctggacaagaagcagagaaactttgacaagatcctggccgagtggaagcag
aagtatgaggagtcgcagtctgagctggagtcctcacagaaggaggctcgctccctcagc
acagagctcttcaagctcaagaacgcctacgaggagtccctggagcacctagagaccttc
aagcgggagaacaagaaccttcaggaggaaatctcggaccttactgagcagctaggagaa
ggaggaaagaatgtgcatgagctggagaaggtccgcaaacagctggaggtggagaagctg
gagctgcagtcagccctggaggaggcagaggcctccctggagcacgaggagggcaagatc
ctccgggcccagctagagttcaaccagatcaaggcagagatcgagcggaagctggcagag
aaggacgaggagatggaacaggccaagcgcaaccaccagcgggtggtggactcgctgcag
acctccctggatgcagagacacgcagccgcaacgaggtcctgagggtgaagaagaagatg
gaaggagacctcaatgagatggagatccagctcagccacgccaaccgcatggctgccgag
gcccagaagcaagtcaagagcctccagagcttgctgaaggacacccagatccagctggac
gatgcggtccgtgccaacgacgacctgaaggagaacatcgccatcgtggagcggcgcaac
aacctgctgcaggctgagctggaggagctgcgtgccgtggtggagcagacagagcggtcc
cggaagctggcggagcaggagctgattgagaccagcgagcgggtgcagctgctgcattcc
cagaacaccagcctcatcaaccagaagaagaagatggagtcggatctgacccagctccag
tcggaagtggaggaggcagtgcaggagtgcagaaacgccgaggagaaggccaagaaggcc
atcacggatgccgccatgatggcagaggagctgaagaaggagcaggacaccagcgcccac
ctggagcgcatgaagaagaacatggagcagaccattaaggacctgcagcaccggctggac
gaggccgagcagatcgccctcaagggaggcaagaagcagctgcagaagctggaagcgcgg
gtgcgggagctggagggtgagctggaggccgagcagaagcgcaacgcagagtcggtgaag
ggcatgaggaagagcgagcggcgcatcaaggagctcacctaccagacagaggaagacaaa
aagaacctgctgcggctacaggacctggtggacaagctgcaactgaaggtcaaggcctac
aagcgccaggccgaggaggcggaggagcaagccaacaccaacctgtccaagttccgcaag
gtgcagcatgagctggatgaggcagaggagcgggcggacatcgctgagtcccaggtcaac
aagcttcgagccaagagccgtgacattggtgccaagcaaaaaatgcacgatgaggagtga

KEGG   Homo sapiens (human): 4625Help
Entry
4625              CDS       T01001                                 

Gene name
MYH7, CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM
Definition
(RefSeq) myosin heavy chain 7
  KO
K17751  myosin heavy chain 6/7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04022  cGMP-PKG signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04919  Thyroid hormone signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05414  Dilated cardiomyopathy (DCM)
hsa05416  Viral myocarditis
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H00594  Distal myopathy
H00656  Scapuloperoneal myopathy
H00703  Myosin storage myopathy
H01216  Left ventricular noncompaction
H01977  Laing distal myopathy
Drug target
Imciromab pentetate: D04510
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04022 cGMP-PKG signaling pathway
    4625 (MYH7)
 09150 Organismal Systems
  09152 Endocrine system
   04919 Thyroid hormone signaling pathway
    4625 (MYH7)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    4625 (MYH7)
   04261 Adrenergic signaling in cardiomyocytes
    4625 (MYH7)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    4625 (MYH7)
   05414 Dilated cardiomyopathy (DCM)
    4625 (MYH7)
   05416 Viral myocarditis
    4625 (MYH7)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4625 (MYH7)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Myosins
     4625 (MYH7)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Myosin_head Myosin_tail_1 Myosin_N IQ AAA_22 Filament
Motif
Other DBs
NCBI-GeneID: 4625
NCBI-ProteinID: NP_000248
OMIM: 160760
HGNC: 7577
Ensembl: ENSG00000092054
Vega: OTTHUMG00000028755
Pharos: P12883(Tbio)
UniProt: P12883
Structure
PDB: 

Position
14q11.2
AA seq 1935 aa AA seqDB search
MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVT
AETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGL
FCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN
SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDM
LLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFG
NMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQV
IYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF
TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMF
PKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDP
LNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMT
NLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ
RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDER
LSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLL
KSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLAD
AEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT
LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTL
TKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERL
KKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLS
RELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV
AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHR
SKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLE
EEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAI
QRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA
ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKR
ENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILR
AQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEG
DLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL
LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTE
VEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEA
EQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKN
LLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL
RAKSRDIGTKGLNEE
NT seq 5808 nt NT seq  +upstreamnt  +downstreamnt
atgggagattcggagatggcagtctttggggctgccgccccctacctgcgcaagtcagag
aaggagcggctagaagcgcagaccaggccttttgacctcaagaaggatgtcttcgtgcct
gatgacaaacaggagtttgtcaaggccaagatcgtgtctcgagagggtggcaaagtcact
gccgagaccgagtatggcaagacagtgaccgtgaaggaggaccaggtgatgcagcagaac
ccacccaagttcgacaaaatcgaggacatggccatgctgaccttcctgcatgagcccgcg
gtgctctacaacctcaaggatcgctacggctcctggatgatctacacctactcgggcctc
ttctgtgtcaccgtcaacccttacaagtggctgccggtgtacactcctgaggtggtggct
gcctaccggggcaagaagaggagcgaggccccgccccacatcttctccatctccgacaac
gcctatcagtacatgctgacagacagagaaaaccagtccatcctgatcaccggagaatcc
ggagcagggaagacagtcaacaccaagagggtcatccagtactttgctgttattgcagcc
attggggaccgcagcaagaaggaccagagcccgggcaagggcaccctggaggaccagatc
atccaggccaaccctgctctggaggcctttggcaatgccaagaccgtccggaacgacaac
tcctcccgcttcgggaaattcattcgaattcattttggggcaacaggaaagttggcatct
gcagacatagagacctatcttctggaaaaatccagagttattttccagctgaaagcagag
agagattatcacattttctaccaaatcctgtctaacaaaaagcctgagctgctggacatg
ctgctgatcaccaacaacccctacgattatgcattcatctcccaaggagagaccaccgtg
gcctccattgatgacgctgaggagctcatggccactgataacgcttttgatgtgctgggc
ttcacttcagaggagaaaaactccatgtataagctgacaggcgccatcatgcactttgga
aacatgaagttcaagctgaagcagcgggaggagcaggcggagccagacggcactgaagag
gctgacaagtctgcctacctcatggggctgaactcagccgacctgctcaaggggctgtgc
caccctcgggtgaaagtgggcaatgagtacgtcaccaaggggcagaatgtccagcaggtg
atatatgccactggggcactggccaaggcagtgtatgagaggatgttcaactggatggtg
acgcgcatcaatgccaccctggagaccaagcagccacgccagtacttcataggagtcctg
gacatcgctggcttcgagatcttcgatttcaacagctttgagcagctctgcatcaacttc
accaacgagaagctgcagcagttcttcaaccaccacatgtttgtgctggagcaggaggag
tacaagaaggagggcatcgagtggacattcattgactttggcatggacctgcaggcctgc
attgacctcatcgagaagcccatgggcatcatgtccatcctggaagaggagtgcatgttc
cccaaggccaccgacatgaccttcaaggccaagctgtttgacaaccacctgggcaaatcc
gccaacttccagaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatc
cactatgccggcatcgtggactacaacatcattggctggctgcagaagaacaaggatcct
ctcaatgagactgtcgtgggcttgtatcagaagtcttccctcaagctgctcagcaccctg
tttgccaactatgctggggctgatgcgcctattgagaagggcaaaggcaaggccaagaaa
ggctcgtcctttcagactgtgtcagctctgcacagggaaaatctgaacaagctgatgacc
aacttgcgctccacccatccccactttgtacgttgtatcatccctaatgagacaaagtct
ccaggggtgatggacaaccccctggtcatgcaccagctgcgctgcaatggtgtgctggag
ggcatccgcatctgcaggaaaggcttccccaaccgcatcctctacggggacttccggcag
aggtatcgcatcctgaacccagcggccatccctgagggacagttcattgatagcaggaag
ggggcagagaagctgctcagctccctggacattgatcacaaccagtacaagtttggccac
accaaggtgttcttcaaggccgggctgctggggctgctggaggaaatgagggacgagagg
ctgagccgcatcatcacgcgtatccaggcccagtcccgaggtgtgctcgccagaatggag
tacaaaaagctgctggaacgtagagactccctgctggtaatccagtggaacattcgggcc
ttcatgggggtcaagaattggccctggatgaagctctacttcaagatcaagccgctgctg
aagagtgcagaaagagagaaggagatggcctccatgaaggaggagttcacacgcctcaaa
gaggcgctagagaagtccgaggctcgccgcaaggagctggaggagaagatggtgtccctg
ctgcaggagaagaatgacctgcagctccaagtgcaggcggaacaagacaacctggcagat
gctgaggagcgctgtgatcagctgatcaaaaacaagattcagctggaggccaaggtgaag
gagatgaacgagaggctggaggatgaggaggagatgaatgctgagctcactgccaagaag
cgcaagctggaagatgagtgctcagagctcaaaagggacatcgatgatctggagctgaca
ctggccaaagtggagaaggagaaacacgcaacagagaacaaggtgaaaaacctgacagag
gagatggctgggctggatgagatcattgccaagctgaccaaggagaagaaagctctgcaa
gaggcccaccaacaggctctggatgaccttcaggccgaggaggacaaggtcaacaccctg
actaaggccaaagtcaagctggagcagcaagtggatgatctggaaggatccctggagcaa
gagaagaaggtgcgcatggacctggagcgagcgaagcggaagctggagggcgacctgaag
ctgacccaggagagcatcatggacctggagaatgacaagcagcagctggatgagcggctg
aaaaaaaaagactttgagctgaatgctctcaacgcaaggattgaggatgaacaggccctc
ggcagccagctgcagaagaagctcaaggagcttcaggcacgcatcgaggagctggaggag
gagctggaggccgagcgcaccgccagggctaaggtggagaagctgcgctcagacctgtct
cgggagctggaggagatcagcgagcggctggaagaggccggcggggccacgtccgtgcag
atcgagatgaacaagaagcgcgaggccgagttccagaagatgcggcgggacctggaggag
gccacgctgcagcacgaggccactgccgcggccctgcgcaagaagcacgccgacagcgtg
gccgagctgggcgagcagatcgacaacctgcagcgggtgaagcagaagctggagaaggag
aagagcgagttcaagctggagctggatgacgtcacctccaacatggagcagatcatcaag
gccaaggctaacctggagaagatgtgccggaccttggaagaccagatgaatgagcaccgg
agcaaggcggaggagacccagcgttctgtcaacgacctcaccagccagcgggccaagttg
caaaccgagaatggtgagctgtcccggcagctggatgagaaggaggcactgatctcccag
ctgacccgaggcaagctcacctacacccagcagctggaggacctcaagaggcagctggag
gaggaggttaaggcgaagaacgccctggcccacgcactgcagtcggcccggcatgactgc
gacctgctgcgggagcagtacgaggaggagacggaggccaaggccgagctgcagcgcgtc
ctttccaaggccaactcggaggtggcccagtggaggaccaagtatgagacggacgccatt
cagcggactgaggagctcgaggaggccaagaagaagctggcccagcggctgcaggaagct
gaggaggccgtggaggctgttaatgccaagtgctcctcgctggagaagaccaagcaccgg
ctacagaatgagatcgaggacttgatggtggacgtagagcgctccaatgctgctgctgca
gccctggacaagaagcagaggaacttcgacaagatcctggccgagtggaagcagaagtat
gaggagtcgcagtcggagctggagtcctcgcagaaggaggctcgctccctcagcacagag
ctcttcaaactcaagaacgcctatgaggagtccctggaacatctggagaccttcaagcgg
gagaacaaaaacctgcaggaggagatctccgacttgactgagcagttgggttccagcgga
aagactatccatgagctggagaaggtccgaaagcagctggaggccgagaagatggagctg
cagtcagccctggaggaggccgaggcctccctggagcacgaggagggcaagatcctccgg
gcccagctggagttcaaccagatcaaggcagagatcgagcggaagctggcagagaaggac
gaggagatggaacaggccaagcgcaaccacctgcgggtggtggactcgctgcagacctcc
ctggacgcagagacacgcagccgcaacgaggccctgagggtgaagaagaagatggaagga
gacctcaatgagatggagatccagctcagccacgccaaccgcatggccgccgaggcccag
aagcaagtcaagagcctccagagcttgttgaaggacacccagattcagctggacgatgca
gtccgtgccaacgacgacctgaaggagaacatcgccatcgtggagcggcgcaacaacctg
ctgcaggctgagctggaggagttgcgtgccgtggtggagcagacagagcggtcccggaag
ctggcggagcaggagctgattgagactagtgagcgggtgcagctgctgcattcccagaac
accagcctcatcaaccagaagaagaagatggatgctgacctgtcccagctccagactgaa
gtggaggaggcagtgcaggagtgcaggaatgctgaggagaaggccaagaaggccatcacg
gatgccgccatgatggcagaggagctgaagaaggagcaggacaccagcgcccacctggag
cgcatgaagaagaacatggaacagaccattaaggacctgcagcaccggctggacgaagcc
gagcagatcgccctcaagggcggcaagaagcagctgcagaagctggaagcgcgggtgcgg
gagctggagaatgagctggaggccgagcagaagcgcaacgcagagtcggtgaagggcatg
aggaagagcgagcggcgcatcaaggagctcacctaccagacggaggaggacaggaaaaac
ctgctgcggctgcaggacctggtagacaagctgcagctaaaggtcaaggcctacaagcgc
caggccgaggaggcggaggagcaagccaacaccaacctgtccaagttccgcaaggtgcag
cacgagctggatgaggcagaggagcgggcggacatcgccgagtcccaggtcaacaagctg
cgggccaagagccgtgacattggcacgaagggcttgaatgaggagtag

KEGG   Homo sapiens (human): 4633Help
Entry
4633              CDS       T01001                                 

Gene name
MYL2, CMH10, MLC-2s/v, MLC2
Definition
(RefSeq) myosin light chain 2
  KO
K10351  myosin regulatory light chain 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04371  Apelin signaling pathway
hsa04510  Focal adhesion
hsa04530  Tight junction
hsa04670  Leukocyte transendothelial migration
hsa04810  Regulation of actin cytoskeleton
hsa05131  Shigellosis
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00292  Hypertrophic cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    4633 (MYL2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    4633 (MYL2)
   04530 Tight junction
    4633 (MYL2)
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    4633 (MYL2)
 09150 Organismal Systems
  09151 Immune system
   04670 Leukocyte transendothelial migration
    4633 (MYL2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    4633 (MYL2)
   04261 Adrenergic signaling in cardiomyocytes
    4633 (MYL2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    4633 (MYL2)
   05414 Dilated cardiomyopathy (DCM)
    4633 (MYL2)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    4633 (MYL2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4633 (MYL2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Myosins
     4633 (MYL2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: EF-hand_1 EF-hand_6 EF-hand_7 EF-hand_8 EF-hand_5
Motif
Other DBs
NCBI-GeneID: 4633
NCBI-ProteinID: NP_000423
OMIM: 160781
HGNC: 7583
Ensembl: ENSG00000111245
Vega: OTTHUMG00000169535
Pharos: P10916(Tbio)
UniProt: P10916 Q6IB42
Structure
PDB: 

Position
12q24.11
AA seq 166 aa AA seqDB search
MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVN
VKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVR
EMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD
NT seq 501 nt NT seq  +upstreamnt  +downstreamnt
atggcacctaagaaagcaaagaagagagccgggggcgccaactccaacgtgttctccatg
ttcgaacagacccaaatccaggaatttaaggaggccttcactatcatggaccagaacagg
gatggcttcattgacaagaacgatctgagagacacctttgctgcccttgggcgagtgaac
gtgaaaaatgaagaaattgatgaaatgatcaaggaggctccgggtccaattaactttact
gtgttcctcacaatgtttggggagaaacttaagggagcggaccctgaggaaaccattctc
aacgcattcaaagtgtttgaccctgaaggcaaaggggtgctgaaggctgattacgttcgg
gaaatgctgaccacgcaggcggagaggttttccaaggaggaggttgaccagatgttcgcc
gccttcccccctgacgtgactggcaacttggactacaagaacctggtgcacatcatcacc
cacggagaagagaaggactag

KEGG   Homo sapiens (human): 4634Help
Entry
4634              CDS       T01001                                 

Gene name
MYL3, CMH8, MLC-lV/sb, MLC1SB, MLC1V, VLC1, VLCl
Definition
(RefSeq) myosin light chain 3
  KO
K12749  myosin light chain 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04371  Apelin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00292  Hypertrophic cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    4634 (MYL3)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    4634 (MYL3)
   04261 Adrenergic signaling in cardiomyocytes
    4634 (MYL3)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    4634 (MYL3)
   05414 Dilated cardiomyopathy (DCM)
    4634 (MYL3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4634 (MYL3)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Myosins
     4634 (MYL3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: EF-hand_6 EF-hand_1 EF-hand_7
Motif
Other DBs
NCBI-GeneID: 4634
NCBI-ProteinID: NP_000249
OMIM: 160790
HGNC: 7584
Ensembl: ENSG00000160808
Vega: OTTHUMG00000133516
Pharos: P08590(Tbio)
UniProt: P08590 A0A024R2Q5
Structure
PDB: 

Position
3p21.31
AA seq 195 aa AA seqDB search
MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFML
FDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQH
ISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSN
GCINYEAFVKHIMSS
NT seq 588 nt NT seq  +upstreamnt  +downstreamnt
atggcccccaaaaagccagagcccaagaaggatgatgccaaggcagcccccaaggcagct
ccagctcccgcacctccccctgagcctgagcgccctaaggaggtcgagtttgatgcttcc
aagatcaagattgagttcacacctgagcagattgaagagttcaaggaagccttcatgctg
ttcgaccgcacacccaagtgtgagatgaagatcacctacgggcagtgtggggatgtcctg
cgggcgctgggccagaaccccacacaggcagaagtgctccgtgtcctggggaagccaaga
caggaagagctcaataccaagatgatggactttgaaactttcctgcctatgctccagcac
atttccaagaacaaggacacaggcacctatgaggacttcgtggaggggctgcgggtcttc
gacaaggagggcaatggcactgtcatgggtgctgagcttcgccacgtgctggccacgctg
ggtgagaggctgacagaagacgaagtggagaagttgatggctgggcaagaggactccaat
ggctgcatcaactatgaagcatttgtgaagcacatcatgtccagctaa

KEGG   Homo sapiens (human): 4635Help
Entry
4635              CDS       T01001                                 

Gene name
MYL4, ALC1, AMLC, GT1, PRO1957
Definition
(RefSeq) myosin light chain 4
  KO
K12750  myosin light chain 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04371  Apelin signaling pathway
Disease
H00731  Atrial fibrillation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    4635 (MYL4)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    4635 (MYL4)
   04261 Adrenergic signaling in cardiomyocytes
    4635 (MYL4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4635 (MYL4)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Myosins
     4635 (MYL4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: EF-hand_6 EF-hand_1 EF-hand_9 EF-hand_7 DUF5525
Motif
Other DBs
NCBI-GeneID: 4635
NCBI-ProteinID: NP_001002841
OMIM: 160770
HGNC: 7585
Ensembl: ENSG00000198336
Vega: OTTHUMG00000178232
Pharos: P12829(Tbio)
UniProt: P12829
Position
17q21.32
AA seq 197 aa AA seqDB search
MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKIDFTADQIEEFKEAF
SLFDRTPTGEMKITYGQCGDVLRALGQNPTNAEVLRVLGKPKPEEMNVKMLDFETFLPIL
QHISRNKEQGTYEDFVEGLRVFDKESNGTVMGAELRHVLATLGEKMTEAEVEQLLAGQED
ANGCINYEAFVKHIMSG
NT seq 594 nt NT seq  +upstreamnt  +downstreamnt
atggctcccaagaagcctgagcctaagaaggaggcagccaagccagctccagctccagct
ccagcccctgcaccagcccctgccccagctcctgaggctcccaaggaacctgcctttgac
cccaagagtgtaaagatagacttcactgccgaccagattgaagagttcaaagaggccttt
tcattgtttgaccggaccccgactggagagatgaagatcacctacggccagtgcggggat
gtactgcgggccctgggccagaaccctaccaatgccgaggtgctgcgtgtgctgggcaag
cccaagcctgaagagatgaatgtcaagatgctggactttgagacgttcttgcccatcctg
cagcacatttcccgcaacaaggagcagggcacctatgaggacttcgtggagggcctgcgt
gtctttgacaaggagagcaatggcacggtcatgggtgctgagcttcggcacgtccttgcc
accctgggagagaagatgactgaggctgaagtggagcagctgttagctgggcaagaggat
gccaatggctgcatcaattatgaagcctttgtcaagcacatcatgtcagggtga

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