| Entry |
|
| Gene name |
MYH8, MyHC-peri, MyHC-pn, gtMHC-F
|
| Definition |
myosin, heavy chain 8, skeletal muscle, perinatal
|
| Orthology |
|
| Organism |
|
| Pathway |
| Tight junction | | Viral myocarditis |
|
| Disease |
| Distal arthrogryposis (DA) | | Trismus-pseudocamptodactyly syndrome |
|
| Class |
Cellular Processes; Cell communication; Tight junction [PATH: hsa04530]
Human Diseases; Cardiovascular diseases; Viral myocarditis [PATH: hsa05416]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
17p13.1
|
| AA seq |
1937 aa  
MSASSDAEMAVFGEAAPYLRKSEKERIEAQNKPFDAKTSVFVAEPKESYVKSTIQSKEGG
KVTVKTEGGATLTVREDQVFPMNPPKYDKIEDMAMMTHLHEPGVLYNLKERYAAWMIYTY
SGLFCVTVNPYKWLPVYKPEVVAAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILIT
GESGAGKTVNTKRVIQYFATIAVTGEKKKDESGKMQGTLEDQIISANPLLEAFGNAKTVR
NDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQITSNKKPDL
IEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIDILGFTPEEKVSIYKLTGAVM
HYGNMKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTV
QQVYNAVGALAKAVYEKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLC
INFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPLGIFSILEEE
CMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFSLIHYAGTVDYNITGWLDKN
KDPLNDTVVGLYQKSAMKTLASLFSTYASAEADSSAKKGAKKKGSSFQTVSALFRENLNK
LMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYGD
FKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVFFKAGLLGLLEEMR
DEKLAQIITRTQAVCRGFLMRVEYQKMLQRREALFCIQYNVRAFMNVKHWPWMKLFFKIK
PLLKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQSEADS
LADAEERCEQLIKNKIQLEAKIKEVTERAEEEEEINAELTAKKRKLEDECSELKKDIDDL
ELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLSKEKKALQETHQQTLDDLQAEEDKV
NILTKAKTKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESTMDMENDKQQLD
EKLEKKEFEISNLISKIEDEQAVEIQLQKKIKELQARIEELGEEIEAERASRAKAEKQRS
DLSRELEEISERLEEAGGATSAQVELNKKREAEFQKLRRDLEEATLQHEAMVAALRKKHA
DSMAELGEQIDNLQRVKQKLEKEKSELKMETDDLSSNAEAISKAKGNLEKMCRSLEDQVS
ELKTKEEEQQRLINDLTAQRARLQTEAGEYSRQLDEKDALVSQLSRSKQASTQQIEELKH
QLEEETKAKNALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYET
DAIQRTEELEEAKKKLAQRLQEAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERSNA
ACAALDKKQRNFDKVLSEWKQKYEETQAELEASQKESRSLSTELFKVKNVYEESLDQLET
LRRENKNLQQEISDLTEQIAEGGKQIHELEKIKKQVEQEKCEIQAALEEAEASLEHEEGK
ILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHTRVVETMQSTLDAEIRSRNDALRVKKK
MEGDLNEMEIQLNHANRLAAESLRNYRNTQGILKETQLHLDDALRGQEDLKEQLAIVERR
ANLLQAEIEELWATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLENDVSQL
QSEVEEVIQESRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRL
DEAEQLALKGGKKQIQKLEARVRELEGEVENEQKRNAEAVKGLRKHERRVKELTYQTEED
RKNVLRLQDLVDKLQAKVKSYKRQAEEAEEQSNANLSKFRKLQHELEEAEERADIAESQV
NKLRVKSREVHTKISAE |
| NT seq |
5814 nt  +upstreamnt +downstreamnt
atgagtgcgagctcagacgctgagatggctgtttttggcgaagctgctccctaccttcga
aaatcagaaaaggagcggattgaggcccaaaacaagccgtttgatgctaaaacatctgtc
tttgtggcggagcccaaggaatcctatgtgaagagcactatacaaagcaaagaaggaggg
aaagtaaccgtaaagactgaaggtggagcaactctaactgtcagggaagaccaagtcttc
cctatgaaccctccgaaatatgacaaaattgaggacatggccatgatgactcatctacac
gagcctggagtgctgtacaacctcaaagagcgctatgcagcctggatgatctacacctac
tcaggcctcttctgtgtcaccgtcaacccctacaagtggctgccggtgtacaagcccgag
gtggtggctgcctacagaggcaaaaagcgccaggaggccccgccccacatcttctccatc
tctgacaatgcctatcagttcatgttgactgatcgagagaatcagtccatcctgatcacc
ggagaatctggtgccggaaagactgtgaacaccaagcgtgtcatccaatactttgcaaca
attgcagttactggagagaagaagaaggatgaatctggcaaaatgcaggggactctggaa
gatcaaatcatcagcgccaatcccctactggaggcctttggcaatgccaaaactgtgagg
aatgacaactcctctcgctttggtaaattcattagaatccactttggtactacagggaag
ctggcatctgctgatatagaaacatatcttttagaaaagtccagagttactttccagcta
aaggcggaaagaagctaccatattttttatcagatcacttccaataagaagccagatcta
attgaaatgctcctgatcaccaccaacccatatgactatgccttcgtcagtcagggggag
atcacagttcccagtattgatgaccaagaagagttgatggccactgatagtgccattgac
atcctgggcttcactcctgaagagaaagtgtccatctataaactcacaggggctgtgatg
cattatgggaacatgaaattcaagcaaaagcagcgtgaggagcaagctgagccagatggc
acagaagtcgctgacaaggcagcctatctccagagtctgaactctgcagacctactcaaa
gccctctgctaccctagggtcaaggttggcaatgagtatgtcaccaaaggccagactgtg
cagcaggtgtacaatgcggtgggtgctctggccaaagccgtctacgagaagatgttcctg
tggatggtcacccgcatcaaccagcagctggacaccaagcagcccaggcagtacttcatc
ggggtcttggacattgctggctttgaaatctttgattttaacagcctggagcagctgtgc
atcaacttcaccaacgagaaactgcaacagtttttcaaccaccacatgtttgtgctagag
caggaggagtacaagaaggaaggcatcgagtggacgttcattgactttgggatggacctg
gctgcctgcattgagctcattgagaagccactgggcatcttctccatcctggaagaggag
tgcatgttccctaaggcaacggacacctccttcaagaacaagctgtatgaccagcacctg
ggcaagtctgccaacttccagaagcccaaggtggtcaaaggcaaggctgaggcccacttc
tctctgattcactatgctggcactgtggactacaacattactggctggctggacaaaaat
aaggaccccctgaatgatactgtggttgggctgtaccagaagtctgcaatgaagactcta
gccagtctcttttccacgtatgctagtgctgaagcagatagcagcgcgaagaaaggtgct
aagaaaaagggctcttctttccagactgtgtctgcccttttcagggaaaatttaaataaa
ttgatgacgaatctgaggagcacacaccctcacttcgtacggtgtatcattcccaatgaa
accaaaactcctggggcaatggaacatgaacttgtgttgcaccagctgaggtgtaatggt
gtgctggaaggcatccgcatctgtaggaaaggattcccaagcagaatcttatatggtgat
ttcaaacaaagatacaaggttttaaatgcaagtgctattccagagggacagttcattgac
agcaagaaggcttctgagaaacttcttgcatctattgatattgatcatactcaatataaa
tttggacataccaaggttttcttcaaagctggacttctgggtcttctggaagaaatgaga
gatgaaaaattagcccaaattataacaagaacacaagctgtctgtaggggattcctaatg
agggtagaatatcagaagatgttgcaaaggagagaagcacttttctgcatccagtataat
gtccgtgccttcatgaacgtcaagcactggccctggatgaaactctttttcaagattaag
cccctcctcaagagtgcagagaccgagaaagagatggccaccatgaaggaagaattccag
aaaaccaaagatgaactcgccaagtcagaggcaaaacggaaggagctagaggaaaaaatg
gtcactctcttaaaagagaaaaatgacctgcaactccaggttcaatctgaagcagatagc
ttggctgatgcagaggaaaggtgtgagcaactgattaaaaacaaaatccaacttgaggcc
aaaatcaaagaggtgactgaaagagctgaggaggaggaagagatcaatgctgagctgaca
gccaagaagagaaaactggaggatgaatgttcagaactcaagaaagacattgatgacctt
gagctgacactggccaaggttgagaaggagaaacatgccacggagaacaaggtgaaaaat
cttacagaagagatggcaggcctggatgaaaccattgcaaaactgtccaaggagaagaag
gctctccaagagacccaccagcagaccctggatgacctgcaggcagaggaggacaaagtc
aacatcctgaccaaagctaaaaccaagctagaacagcaagtggatgatcttgaagggtct
ctggaacaagaaaagaagcttcgaatggatctagaaagagcaaagcggaaactggagggt
gacctcaaattggcccaagaatccacaatggatatggaaaatgacaaacagcaacttgat
gaaaagcttgaaaagaaagaatttgaaatcagcaatttgataagcaaaattgaagatgag
caagctgtagaaattcaactacagaagaagatcaaagagttgcaggcccgcattgaggag
ctgggggaagaaatcgaggcagagagggcgtcccgagccaaagcggagaagcagcgctct
gacctctcccgggaactggaggagatcagcgagaggctggaagaagccggtggggcaact
tctgctcaggtggaattgaacaagaagcgggaggctgagtttcagaaactgcgcagggac
ctggaggaggccaccctgcagcatgaagctatggtggctgctcttcggaagaagcacgca
gacagtatggctgagcttggggagcagattgacaacttgcagcgggtcaaacagaagctg
gagaaggagaagagtgagctgaagatggagactgatgacctcagcagtaacgcagaggcc
atttccaaagccaagggaaaccttgaaaagatgtgccgctctctagaagatcaagtgagt
gagcttaagaccaaggaagaggagcagcagcggctgatcaatgacctcacagcacagaga
gcgcgcctgcagacagaagcgggtgaatattctcgacaattagatgagaaagatgcttta
gtctctcagctttcaaggagcaagcaagcatctactcagcagattgaagagctgaaacat
caactagaggaagaaactaaagccaagaacgccctggcacacgccctgcagtcctcccgc
catgactgcgacctgctgcgggaacagtatgaggaagagcaggaaggcaaagctgagctg
cagagggcgctgtccaaggccaacagtgaggttgcccagtggagaaccaaatacgagacg
gatgccatccagcgcacagaggagctggaggaggccaagaaaaagttggcccagcgcctg
caagaagctgaggaacatgtagaagctgtgaacgccaaatgtgcttcccttgagaagacg
aagcagcggctccagaatgaagttgaagacctcatgcttgatgtggaaaggtctaatgca
gcctgtgcagcccttgataagaagcaaaggaactttgacaaggtcctatcagaatggaag
cagaagtatgaggaaactcaggctgaacttgaggcctcccagaaggagtcacgttctctt
agcactgagctgttcaaggtgaagaatgtctatgaggaatccctggatcaactcgaaacg
ctaagaagagaaaataagaacttgcaacaggagatttctgacctcactgagcagattgca
gagggaggaaagcaaattcatgaattggagaaaataaagaagcaagtagaacaagagaaa
tgtgaaattcaggctgctttagaggaagcagaggcatctcttgaacatgaagaaggaaag
attctgcgtatccagcttgagttaaaccaagtcaagtctgaagttgatagaaaaatcgca
gaaaaggatgaggaaattgaccagctgaagagaaaccacactagagtcgtggagacaatg
cagagcacgctggatgcagagattagaagcagaaatgatgctctgagagtcaagaagaaa
atggaaggagatctgaatgaaatggaaatccagctgaaccatgccaatcgcttagctgca
gagagtttaaggaactacaggaacacccaaggaatcctgaaggaaacccagctccacctg
gatgatgctctccggggccaggaggacctcaaggaacagctggcaattgtggagcgcaga
gccaacctgctgcaggctgagatcgaggagctgtgggccactctggaacagacagagaga
agcaggaaaatcgccgaacaggagctcctggatgccagtgagcgtgtccagctcctccac
acccagaataccagtctcattaacaccaagaagaaattagaaaatgacgtttcccaactc
caaagtgaagtggaagaagtaatccaagaatcacgcaatgcagaagagaaagccaagaag
gccatcactgatgctgccatgatggctgaggagctgaagaaggaacaggacaccagcgcc
cacctggagcggatgaagaagaacctggagcagacggtgaaggacctgcagcatcgtcta
gatgaggccgagcagctggcgctgaagggtgggaagaagcagatccagaaactggaggcc
agggtacgtgagcttgaaggagaggttgaaaatgaacagaaacgtaatgcagaggctgtt
aaaggtttacggaaacatgagcgacgagtaaaagaactcacctaccagactgaagaagat
cgcaagaatgttctcaggctgcaggacttggtagataaattacaggcgaaggtgaaatca
tacaagagacaagctgaggaggctgaggaacaatccaatgctaatctatctaaattccgc
aaactccagcatgagctggaggaggccgaggaacgggctgacattgctgagtcccaggtc
aacaaattgcgagtgaagagccgagaggttcacacaaaaatcagtgcagagtaa |