KEGG   Homo sapiens (human): 88Help
Entry
88                CDS       T01001                                 

Gene name
ACTN2, CMD1AA, CMH23
Definition
(RefSeq) actinin alpha 2
  KO
K21073  
actinin alpha 2/3
Organism
hsa  Homo sapiens (human)
Pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Disease
H00294  
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Human Diseases
  Cardiovascular diseases
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    88 (ACTN2)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    88 (ACTN2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     88 (ACTN2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   88 (ACTN2)
  Exosomal proteins of colorectal cancer cells
   88 (ACTN2)
  Exosomal proteins of bladder cancer cells
   88 (ACTN2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
Pharos: 
P35609(Tbio)
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
1q43
AA seq 894 aa AA seqDB search
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIE
NIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAE
EIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSW
KDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP
DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT
IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAF
MPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK
EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN
DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQ
DMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS
TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEI
ARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI
RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRA
CLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS
DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL
NT seq 2685 nt NT seq  +upstreamnt  +downstreamnt
atgaaccagatagagcccggcgtgcagtacaactacgtgtacgacgaggatgagtacatg
atccaggaggaggagtgggaccgcgacctgctcctggacccagcctgggagaagcagcag
aggaagaccttcactgcctggtgtaactcccacctaaggaaagccggcacccagattgag
aacatcgaggaagacttcaggaatggccttaagctcatgctgcttttggaagtcatctca
ggggaaaggctgcccaaacctgaccggggaaaaatgcggttccacaaaattgctaatgtc
aacaaagctttggattacatagccagcaaaggggtgaaactggtgtccatcggcgctgaa
gaaattgttgatggcaatgtgaaaatgaccctgggtatgatctggaccatcatccttcgc
tttgctattcaggatatttcggttgaagaaacatctgccaaagaaggtctgctgctttgg
tgtcagaggaaaactgctccttatagaaatgtgaacattcagaacttccatactagctgg
aaagatggccttggactctgtgccctcatccaccgacaccggcctgacctcattgactac
tcaaagcttaacaaggatgaccccataggaaatattaacctggccatggaaatcgctgag
aagcacctggatattcctaaaatgttggatgctgaagacatcgtgaacacccctaaaccc
gatgaaagagccatcatgacgtacgtctcttgcttctaccacgcttttgcgggcgcggag
caggccgagacagcggctaacaggatatgtaaggttcttgctgtgaatcaagagaatgag
aggctgatggaagaatatgagaggctagcgagtgagcttttggaatggattcgtcgcacg
atcccctggctggagaaccggactcccgagaagaccatgcaagccatgcagaagaagctg
gaggacttccgggattaccgccggaagcacaagccacccaaggtgcaggagaaatgccag
ctggagatcaacttcaacacgctgcagaccaagctgcggatcagcaaccgtcctgccttc
atgccctccgagggcaagatggtgtcggatattgctggtgcctggcagaggctggagcag
gctgagaagggttacgaggagtggttgctcaatgagattcggagactggagcgcttggaa
cacctggctgagaagttcaggcagaaggcctcaacgcacgagacttgggcttatggcaaa
gagcagatcttgctgcagaaggattacgagtcggcgtcgctgacagaggtgcgggctctg
ctgcggaagcacgaggcgttcgagagcgacctggcagcgcaccaggaccgcgtggagcag
atcgcagccatcgcgcaggagctcaatgaactggactatcacgacgctgtgaatgtcaat
gatcggtgccagaaaatttgtgaccagtgggaccgactgggaacgcttactcagaagagg
agagaagccctagagagaatggagaaattgctagaaaccattgatcagcttcacctggag
tttgccaagagggctgctcctttcaacaattggatggagggcgctatggaggatctgcaa
gatatgttcattgtccacagcattgaggagatccagagtctgatcactgcgcatgagcag
ttcaaggccacgctgcccgaggcggacggagagcggcagtccatcatggccatccagaac
gaggtggagaaggtgattcagagctacaacatcagaatcagctcaagcaacccgtacagc
actgtcaccatggatgagctccggaccaagtgggacaaggtgaagcaactcgtgcccatc
cgcgatcaatccctgcaggaggagctggctcgccagcatgctaacgagcgtctgaggcgc
cagtttgctgcccaagccaatgccattgggccctggatccagaacaagatggaggagatt
gcccggagctccatccagatcacaggagccctggaagaccagatgaaccagctgaagcag
tatgagcacaacatcatcaactataagaacaacatcgacaagctggagggagaccatcag
ctcatccaggaggcccttgtctttgacaacaagcacacgaactacacgatggagcacatt
cgtgttggatgggagctgctgctgacaaccatcgccagaaccatcaatgaggtggagact
cagatcctgacgagagatgcgaagggcatcacccaggagcagatgaatgagttcagagcc
tccttcaaccactttgacaggaggaagaatggcctgatggatcatgaggatttcagagcc
tgcctgatttccatgggttatgacctgggtgaagccgaatttgcccgcattatgaccctg
gtagatcccaacgggcaaggcaccgtcaccttccaatccttcatcgacttcatgactaga
gagacggctgacaccgacactgccgagcaggtcatcgcctccttccggatcctggcttct
gataagccatacatcctggcggaggagctgcgtcgggagctgcccccggatcaggcccag
tactgcatcaagaggatgcccgcctactcgggcccaggcagtgtgcctggtgcactggat
tacgctgcgttctcttccgcactctacggggagagcgatctgtga

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