KEGG   Homo sapiens (human): 79628Help
Entry
79628             CDS       T01001                                 

Gene name
SH3TC2, CMT4C, MNMN
Definition
SH3 domain and tetratricopeptide repeats 2
Organism
hsa  Homo sapiens (human)
Disease
H00264  
Charcot-Marie-Tooth disease (CMT)
Class
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
UniProt: 
Position
5q32
AA seq 1288 aa AA seqDB search
MGGCFCIPRERSLTRGPGKETPSKDPTVSSECIASSEYKEKCFLPQNINPDLTLSFCVKS
RSRRCVNGPLQEAARRRLWALENEDQEVRMLFKDLSARLVSIQSQRAQFLITFKTMEEIW
KFSTYLNLGYVSMCLEHLLFDHKYWLNCILVEDTEIQVSVDDKHLETIYLGLLIQEGHFF
CRALCSVTPPAEKEGECLTLCKNELISVKMAEAGSELEGVSLVTGQRGLVLVSALEPLPL
PFHQWFLKNYPGSCGLSRKRDWTGSYQIGRGRCKALTGYEPGEKDELNFYQGESIEIIGF
VIPGLQWFIGKSTSSGQVGFVPTRNIDPDSYSPMSRNSAFLSDEERCSLLALGSDKQTEC
SSFLHTLARTDITSVYRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSS
SSEDSSLEEELLSATSDSYRLPEPDDLDDPELLMDLSTGQEEEAENFAPILAFLDHEGYA
DHFKSLYDFSFSFLTSSFYSFSEEDEFVAYLEASRKWAKKSHMTWAHARLCFLLGRLSIR
KVKLSQARVYFEEAIHILNGAFEDLSLVATLYINLAAIYLKQRLRHKGSALLEKAGALLA
CLPDRESSAKHELDVVAYVLRQGIVVGSSPLEARACFLAIRLLLSLGRHEEVLPFAERLQ
LLSGHPPASEAVASVLSFLYDKKYLPHLAVASVQQHGIQSAQGMSLPIWQVHLVLQNTTK
LLGFPSPGWGEVSALACPMLRQALAACEELADRSTQRALCLILSKVYLEHRSPDGAIHYL
SQALVLGQLLGEQESFESSLCLAWAYLLASQAKKALDVLEPLLCSLKETESLTQRGVIYN
LLGLALQGEGRVNRAAKSYLRALNRAQEVGDVHNQAVAMANLGHLSLKSWAQHPARNYLL
QAVRLYCELQASKETDMELVQVFLWLAQVLVSGHQLTHGLLCYEMALLFGLRHRHLKSQL
QATKSLCHFYSSVSPNPEACITYHEHWLALAQQLRDREMEGRLLESLGQLYRNLNTARSL
RRSLTCIKESLRIFIDLGETDKAAEAWLGAGRLHYLMQEDELVELCLQAAIQTALKSEEP
LLALKLYEEAGDVFFNGTRHRHHAVEYYRAGAVPLARRLKAVRTELRIFNKLTELQISLE
GYEKALEFATLAARLSTVTGDQRQELVAFHRLATVYYSLHMYEMAEDCYLKTLSLCPPWL
QSPKEALYYAKVYYRLGRLTFCQLKDAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNI
CQSPLWHSRPSGCSSERARWLSGGGLAL
NT seq 3867 nt NT seq  +upstreamnt  +downstreamnt
atgggtggctgcttctgcatccccagggagcggagtctgacccggggcccaggtaaagaa
actccttccaaggatccaactgtatcgagtgagtgtatagcctcatctgaatacaaggaa
aaatgttttctgccacagaacattaatccagacctgacactctccttctgtgtaaagagc
cgctccaggaggtgtgtaaatggacccctacaggaagctgctcggaggcggctctgggca
ctggagaatgaggaccaggaggtgcgcatgctgtttaaggacctctcagcaaggttggtc
agtatccagtctcagagggcccagtttctcatcaccttcaagaccatggaggaaatctgg
aagttctccacctaccttaatttaggctacgtatccatgtgtctagaacatctcctcttt
gaccacaagtactggctcaactgcatattggtggaggatacagagatccaagtgtctgta
gatgataaacacctggaaacaatatacctgggactcctgatacaggaaggccacttcttc
tgcagagccctgtgctccgtgactccaccagccgagaaggaaggggaatgcttgacactt
tgcaagaatgagttaatctcagtgaagatggcagaagctggctccgagttggaaggcgtg
tctttggtgacaggtcagcggggcctggtactggtgtcagccttggagcctctgcctctc
cctttccaccagtggttcctaaagaattatccaggaagctgtggcctttccaggaagagg
gattggacaggctcctatcagattggcagaggacgctgtaaggccttgacgggttatgag
ccaggagaaaaggatgaactgaatttctaccagggagaaagcattgagatcatcggcttt
gtcatacctgggcttcagtggttcattggaaagtcgacaagttcaggacaagtgggcttt
gtccccaccaggaacatagatcctgattcttattccccaatgagcaggaactctgccttt
ctcagtgatgaggagagatgctccctgttggccctgggaagtgataagcagactgagtgt
tccagcttcctccacactcttgctcgcactgacatcacatctgtctaccggctcagtggg
tttgaatccatccagaatcctccaaatgatctgagtgcatcccagcctgaaggtttcaag
gaggtcaggcctggcagagcctgggaggagcatcaggccgtggggtccagacagtccagc
agctctgaggactccagcctggaggaggagctcctctcggccacctcagacagctatcgc
ctgccggagcctgatgaccttgatgacccggaactgctcatggacctaagcactggtcag
gaggaggaggctgagaacttcgcccccatattggcttttctggatcatgagggttatgct
gaccactttaagagtctctatgacttctccttctctttcctcacttcttccttttatagc
ttctctgaggaggatgagtttgtggcctacctggaggcatcaagaaagtgggccaagaag
agccacatgacctgggcccatgcccgtctctgcttcctcctgggccggctgagcatcagg
aaggtcaaactctctcaggccagggtgtacttcgaggaggccatccacattctcaatgga
gcatttgaggacctatccttggtggccactctgtacatcaatttggctgccatctacctg
aaacagaggctgagacataaaggctccgccctgttggaaaaggcaggtgccctgctggcc
tgcctgcctgaccgtgagtctagtgccaagcatgaactcgacgtggtggcctacgtgctg
cgccaggggattgtggtgggcagcagcccgctggaggccagggcctgctttctggccatc
cgcttgctcctgagcctaggccggcacgaggaggtcctgccctttgccgagcgcctgcag
ctcctctctggacaccctcctgcctctgaggctgtggccagtgttttgagttttctgtat
gacaagaaatatcttccacaccttgcagtggcctctgtccagcaacatggtatccagagt
gcccaagggatgtctcttcctatttggcaggtccaccttgtcctccagaacacaaccaag
ctccttggctttccttccccaggctggggtgaagtttctgccttggcctgcccaatgctc
agacaggccctggctgcctgtgaggaactagcagaccggagcacccagagggccctgtgt
ctcatcctttccaaagtgtacctcgagcacaggtctcctgacggtgccatccactacctg
agccaggccttggtgctagggcagctgctgggtgagcaggaatcctttgagtcttctctc
tgcctggcatgggcctatctcttagccagccaggccaagaaggctttggatgtgcttgag
ccactgctatgctccctgaaggagacagagagtctcactcaaaggggagtcatctataac
ctcctgggacttgcactccaaggtgaaggccgggtgaacagggcagccaagagctatctt
cgggccttgaacagagcccaggaggtgggagatgtgcataaccaggcagtggctatggcc
aatcttggccacctgagccttaagtcctgggctcagcatccagccagaaactatctcctg
caggctgtacgactctattgtgaacttcaggccagtaaggagacagacatggaattagta
caggtgtttctctggttggcccaagttctggtgtctggacaccagctgacccatggcctt
ctttgttatgaaatggcattgctgtttggcttaaggcatcgacatctaaagagtcagctt
caggccaccaaatccctctgccatttctacagctctgtgtccccaaaccctgaggcatgc
atcacctaccatgagcactggctggccctggctcagcaactcagggaccgggagatggaa
gggaggctgctggagtccctggggcagctttatcggaacctaaataccgccaggtccctc
aggaggtcactcacatgcatcaaggagagcctgcgtatcttcattgacctgggggagaca
gacaaggctgctgaggcctggcttggggcggggcgactccactacctcatgcaggaagac
gagctggtggagctgtgcctgcaggcagccatccagacagccctgaagtcagaggagcct
ttgctggctctcaaactttatgaagaagcaggtgatgtgttcttcaatgggacccgccac
aggcatcatgcagtggagtactaccgagctggagctgttcctttagcaaggaggttgaag
gcggtgagaactgagctccggattttcaataagctgacagagctgcagattagcctcgaa
ggctatgagaaggctttggaatttgccaccctggccgccaggctcagcacagtcacagga
gatcagaggcaagagctggtggcctttcaccgcctggctacagtgtactactccctgcac
atgtatgagatggctgaggactgctacctgaagaccctgtccctctgtccaccatggctg
cagagtcccaaggaggccctgtactatgccaaggtgtattatcgcctgggcagactcacc
ttctgccagctgaaggatgcccatgatgccactgagtacttccttctggccctggcagca
gcggtcctgctgggtgatgaggagcttcaggacaccattaggagcaggctggacaacatc
tgccagagccccctgtggcacagcaggccctccgggtgctcctcagagagggcgcggtgg
ctgagtggtggtggcctggccctctga

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