KEGG   Homo sapiens (human): 88
Entry
88                CDS       T01001                                 
Symbol
ACTN2, CMD1AA, CMH23, MPD6, MYOCOZ
Name
(RefSeq) actinin alpha 2
  KO
K21073  actinin alpha 2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H01810  Congenital myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy
    88 (ACTN2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    88 (ACTN2)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    88 (ACTN2)
   04147 Exosome [BR:hsa04147]
    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)
SSDB
Motif
Pfam: Spectrin CH EFhand_Ca_insen CAMSAP_CH EF-hand_1 EF-hand_8 EF-hand_7 EF-hand_6 Nsp1_C EF-hand_11 HisKA_2 XisI
Other DBs
NCBI-GeneID: 88
NCBI-ProteinID: NP_001094
OMIM: 102573
HGNC: 164
Ensembl: ENSG00000077522
Pharos: P35609(Tbio)
UniProt: P35609
Structure
Position
1:236686499..236764631
AA seq 894 aa
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIE
NIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAE
EIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSW
KDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP
DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT
IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAF
MPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK
EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN
DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQ
DMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS
TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEI
ARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI
RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRA
CLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS
DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL
NT seq 2685 nt   +upstreamnt  +downstreamnt
atgaaccagatagagcccggcgtgcagtacaactacgtgtacgacgaggatgagtacatg
atccaggaggaggagtgggaccgcgacctgctcctggacccagcctgggagaagcagcag
aggaagaccttcactgcctggtgtaactcccacctaaggaaagccggcacccagattgag
aacatcgaggaagacttcaggaatggccttaagctcatgctgcttttggaagtcatctca
ggggaaaggctgcccaaacctgaccggggaaaaatgcggttccacaaaattgctaatgtc
aacaaagctttggattacatagccagcaaaggggtgaaactggtgtccattggcgctgaa
gaaattgttgatggcaacgtgaaaatgaccctgggtatgatctggaccatcatccttcgc
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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