KEGG   Homo sapiens (human): 10369Help
Entry
10369             CDS       T01001                                 

Gene name
CACNG2, MRD10
Definition
(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 (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00773  Autosomal dominant mental retardation
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 diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    10369 (CACNG2)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    10369 (CACNG2)
   05414 Dilated cardiomyopathy (DCM)
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PMP22_Claudin Claudin_2 AA_permease_2 CD20
Motif
Other DBs
NCBI-GeneID: 10369
NCBI-ProteinID: NP_006069
OMIM: 602911
HGNC: 1406
Ensembl: ENSG00000166862
Vega: OTTHUMG00000030612
Pharos: Q9Y698(Tbio)
UniProt: Q9Y698
Position
22q12.3
AA seq 323 aa AA seqDB search
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTH
SGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGL
CIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSF
YFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
NCIQKENKDSLHSNTANRRTTPV
NT seq 972 nt NT seq  +upstreamnt  +downstreamnt
atggggctgtttgatcgaggtgttcaaatgcttttaaccaccgttggtgctttcgctgcc
ttcagcctgatgaccatagctgtgggaaccgactattggctctactccagaggggtttgc
aagaccaaaagtgtcagtgagaatgaaaccagcaaaaagaacgaggaagttatgacccat
tccggattatggagaacctgctgcctagaagggaatttcaaaggtctgtgcaagcaaatt
gatcacttcccagaggatgcagattacgaagctgacacagcagaatatttcctccgggcc
gtgagggcctccagcattttcccaatcctgagtgtgattctgcttttcatgggtggcctc
tgcatcgcagccagcgagttctacaaaactcgacacaacatcatcctgagtgccggcatc
ttcttcgtgtctgcaggtctgagtaacatcattggcatcatagtgtacatatctgccaat
gccggagacccctccaagagcgactccaaaaagaatagttactcatacggctggtccttc
tacttcggggccctgtccttcatcatcgccgagatggtcggggtgctggcggtgcacatg
tttatcgaccggcacaaacagctgcgggccacggcccgcgccacggactacctccaggcc
tctgccatcacccgcatccccagctaccgctaccgctaccagcgccgcagccgctccagc
tcgcgctccacggagccctcacactccagggacgcctcccccgtgggcatcaagggcttc
aacaccctgccgtccacggagatctccatgtacacgctcagcagggaccccctgaaggcc
gccaccacgcccaccgccacctacaactccgacagggataacagcttcctccaggttcac
aactgtatccagaaggagaacaaggactctctccactccaacacagccaaccgccggacc
acccccgtataa

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