KEGG   Homo sapiens (human): 10369
Entry
10369             CDS       T01001                                 
Symbol
CACNG2, MRD10
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 2
  KO
K04867  voltage-dependent calcium channel gamma-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
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    10369 (CACNG2)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    10369 (CACNG2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    10369 (CACNG2)
   04261 Adrenergic signaling in cardiomyocytes
    10369 (CACNG2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    10369 (CACNG2)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    10369 (CACNG2)
   05414 Dilated cardiomyopathy
    10369 (CACNG2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    10369 (CACNG2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   10369 (CACNG2)
SSDB
Motif
Pfam: PMP22_Claudin Claudin_2 CD20 DUF2053
Other DBs
NCBI-GeneID: 10369
NCBI-ProteinID: NP_006069
OMIM: 602911
HGNC: 1406
Ensembl: ENSG00000166862
UniProt: Q9Y698
Structure
Position
22:complement(36560857..36703752)
AA seq 323 aa
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTH
SGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGL
CIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSF
YFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
NCIQKENKDSLHSNTANRRTTPV
NT seq 972 nt   +upstreamnt  +downstreamnt
atggggctgtttgatcgaggtgttcaaatgcttttaaccaccgttggtgctttcgctgcc
ttcagcctgatgaccatagctgtgggaaccgactattggctctactccagaggggtttgc
aagaccaaaagtgtcagtgagaatgaaaccagcaaaaagaacgaggaagttatgacccat
tccggattatggagaacctgctgcctagaagggaatttcaaaggtctgtgcaagcaaatt
gatcacttcccagaggatgcagattacgaagctgacacagcagaatatttcctccgggcc
gtgagggcctccagcattttcccaatcctgagtgtgattctgcttttcatgggtggcctc
tgcatcgcagccagcgagttctacaaaactcgacacaacatcatcctgagtgccggcatc
ttcttcgtgtctgcaggtctgagtaacatcattggcatcatagtgtacatatctgccaat
gccggagacccctccaagagcgactccaaaaagaatagttactcatacggctggtccttc
tacttcggggccctgtccttcatcatcgccgagatggtcggggtgctggcggtgcacatg
tttatcgaccggcacaaacagctgcgggccacggcccgcgccacggactacctccaggcc
tctgccatcacccgcatccccagctaccgctaccgctaccagcgccgcagccgctccagc
tcgcgctccacggagccctcacactccagggacgcctcccccgtgggcatcaagggcttc
aacaccctgccgtccacggagatctccatgtacacgctcagcagggaccccctgaaggcc
gccaccacgcccaccgccacctacaactccgacagggataacagcttcctccaggttcac
aactgtatccagaaggagaacaaggactctctccactccaacacagccaaccgccggacc
acccccgtataa

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