KEGG   Homo sapiens (human): 9254
Entry
9254              CDS       T01001                                 
Symbol
CACNA2D2, CACNA2D, CASVDD
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit alpha2delta 2
  KO
K04859  voltage-dependent calcium channel alpha-2/delta-2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H02645  Cerebellar atrophy with seizures and variable developmental delay
Drug target
Gabapentin (DG01245): D00332<JP/US> D09539<JP/US>
Mirogabalin (DG02947): D10790<JP> D11203
Pregabalin: D02716<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    9254 (CACNA2D2)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    9254 (CACNA2D2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    9254 (CACNA2D2)
   04261 Adrenergic signaling in cardiomyocytes
    9254 (CACNA2D2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    9254 (CACNA2D2)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    9254 (CACNA2D2)
   05414 Dilated cardiomyopathy
    9254 (CACNA2D2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    9254 (CACNA2D2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   9254 (CACNA2D2)
SSDB
Motif
Pfam: VGCC_alpha2 VWA_N VWA VWA_3 VWA_2 dCache_1 T6SS_FHA_C Cache_3-Cache_2 dCache_2 DUF5610 VWA_CoxE
Other DBs
NCBI-GeneID: 9254
NCBI-ProteinID: NP_001167522
OMIM: 607082
HGNC: 1400
Ensembl: ENSG00000007402
UniProt: Q9NY47
Position
3:complement(50362613..50504244)
AA seq 1150 aa
MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGAS
AYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVA
GDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVER
GSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNELNWTEALENVFMENRR
QDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSG
SVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAV
QGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEA
KQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPN
YTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGN
KGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQV
KLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSK
QCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVFPNKAAEDWTE
NPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPA
VVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLV
LSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVF
VPTVADFLNLAWWTSAAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQY
YFGSVNASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEAGRLLQKETHSDGP
EQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVSLQLLLLLGLPPRPQP
QVLVHASRRL
NT seq 3453 nt   +upstreamnt  +downstreamnt
atggcggtgccggctcggacctgcggcgcctctcggcccggcccagcgcggactgcgcgc
ccctggcccggctgcggcccccaccctggccccggcacccggcgcccgacgtccgggccc
ccgcgcccgctgtggctgctgctgccgcttctaccgctgctcgccgcccccggcgcctct
gcctacagcttcccccagcagcacacgatgcagcactgggcccggcgtctggagcaggag
gtcgacggcgtgatgcggatttttggaggcgtccagcagctccgtgagatttacaaggac
aaccggaacctgttcgaggtacaggagaatgagcctcagaagttggtggagaaggtggca
ggggacattgagagccttctggacaggaaggtgcaggccctgaagagactggctgatgct
gcagagaacttccagaaagcacaccgctggcaggacaacatcaaggaggaagacatcgtg
tactatgacgccaaggctgacgctgagctggacgaccctgagagtgaggatgtggaaagg
gggtctaaggccagcaccctaaggctggacttcatcgaggacccaaacttcaagaacaag
gtcaactattcatacgcggctgtacagatccctacggacatctacaaaggctccactgtc
atcctcaatgagctcaactggacagaggccctggagaatgtgttcatggaaaaccgcaga
caagaccccacactgctgtggcaggtcttcggcagcgccacaggagtcactcgctactac
ccggccaccccgtggcgagcccccaagaagatcgacctgtacgatgtccgaaggagaccc
tggtatatccagggggcctcgtcacccaaagacatggtcatcatcgtggatgtgagtggc
agtgtgagcggcctgaccctgaagctgatgaagacatctgtctgcgagatgctggacacg
ctgtctgatgatgactatgtgaatgtggcctcgttcaacgagaaggcacagcctgtgtca
tgcttcacacacctggtgcaggccaatgtgcgcaacaagaaggtgttcaaggaagctgtg
cagggcatggtggccaagggcaccacaggctacaaggccggctttgagtatgcctttgac
cagctgcagaactccaacatcactcgggccaactgcaacaagatgatcatgatgttcacg
gatggtggtgaggaccgcgtgcaggacgtctttgagaagtacaattggccaaaccggacg
gtgcgcgtgtttactttctccgtggggcagcataactatgacgtcacaccgctgcagtgg
atggcctgtgccaacaaaggctactattttgagatcccttccatcggagccatccgcatc
aacacacaggaatatctagatgtgttgggcaggcccatggtgctggcaggcaaggaggcc
aagcaggtgcagtggaccaacgtgtatgaggatgcactgggactggggttggtggtaaca
gggaccctccctgttttcaacctgacacaggatggccctggggaaaagaagaaccagctg
atcctgggcgtgatgggcattgacgtggctctgaatgacatcaagaggctgacccccaac
tacacgcttggagccaacggctatgtgtttgccattgacctgaacggctacgtgttgctg
caccccaatctcaagccccagaccaccaacttccgggagcctgtgactctggacttcctg
gatgcggagctagaggatgagaacaaggaagagatccgtcggagcatgattgatggcaac
aagggccacaagcagatcagaacgttggtcaagtccctggatgagaggtacatagatgag
gtgacacggaactacacctgggtgcctataaggagcactaactacagcctggggctggtg
ctcccaccctacagcaccttctacctccaagccaatctcagtgaccagatcctgcaggtc
aagttgccaatcagcaaactgaaggattttgagttcctgctccccagcagctttgagtct
gaaggacacgttttcattgctcccagagagtactgcaaggacctgaatgcctcagacaac
aacaccgagttcctgaaaaactttattgagctcatggagaaagtgactccagactccaag
cagtgcaacaacttccttctgcacaacctgatcttggacacgggcatcacgcagcagctg
gtagagcgtgtgtggagggaccaggatctcaacacgtacagcctactggccgtgttcgct
gccacagacggtggcatcacccgagtcttccccaacaaggcagctgaggactggacagag
aaccctgagcccttcaatgccagcttctaccgccgcagcctggataaccacggttatgtc
ttcaagcccccacaccaggatgccctgttaaggccgctggagctggagaatgacactgtg
ggcatcctcgtcagcacagctgtggagctcagcctaggcaggcgcacactgaggccagca
gtggtgggcgtcaagctggacctagaggcttgggctgagaagttcaaggtgctagccagc
aaccgtacccaccaagaccagcctcagaagtgcggccccaacagccactgtgagatggac
tgcgaggttaacaatgaggacttactctgtgtcctcattgatgatggaggattcctggtg
ctgtcaaaccagaaccatcagtgggaccaggtgggcaggttcttcagtgaggtggatgcc
aacctgatgctggcactctacaataactccttctacacccgcaaggagtcctatgactat
caggcagcctgtgcccctcagccccctggcaacctgggtgctgcaccccggggtgtcttt
gtgcccaccgttgcagatttccttaacctggcctggtggacctctgctgccgcctggtcc
ctgttccagcagcttctctacggcctcatctaccacagctggttccaagcagaccccgcg
gaggccgaggggagccccgagacgcgcgagagcagctgcgtcatgaaacagacccagtac
tacttcggctcggtaaacgcctcctacaacgccatcatcgactgcggaaactgctccagg
ctgttccacgcgcagagactgaccaacaccaatcttctctttgtggtggccgagaagccg
ctgtgcagccagtgcgaggctggccggctgctgcagaaggagacgcactcggacggcccg
gagcagtgtgagctagtgcagagaccgcgataccggagaggcccgcacatctgcttcgac
tacaacgcgacagaagatacctcagactgtggccgcggggcctccttcccgccgtcgctg
ggcgtcctggtctccctgcaactgctgctcctcctgggcctgccgccccggccgcagcct
caagtcctcgtccacgcctctcgccgcctctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (7)   
   KEGG PATHWAY (7)   
Network (4)   
   KEGG NETWORK (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (5)   
   KEGG DRUG (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (37)   
   KEGG ORTHOLOGY (1)   
   RefGene (31)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (33)   
   RefSeq(nuc) (7)   
   GenBank (13)   
   EMBL (13)   
Protein domain (11)   
   Pfam (11)   
All databases (112)   

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