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CACNB2

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CACNB2
Identifikatori
AliasiCACNB2
Vanjski ID-jeviOMIM: 600003 MGI: 894644 HomoloGene: 75191 GeneCards: CACNB2
Lokacija gena (čovjek)
Hromosom 10 (čovjek)
Hrom.Hromosom 10 (čovjek)[1]
Hromosom 10 (čovjek)
Genomska lokacija za CACNB2
Genomska lokacija za CACNB2
Bend10p12.33-p12.31Početak18,140,424 bp[1]
Kraj18,543,557 bp[1]
Lokacija gena (miš)
Hromosom 2 (miš)
Hrom.Hromosom 2 (miš)[2]
Hromosom 2 (miš)
Genomska lokacija za CACNB2
Genomska lokacija za CACNB2
Bend2 A2|2 10.7 cMPočetak14,607,899 bp[2]
Kraj14,992,719 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija calcium channel activity
voltage-gated ion channel activity
high voltage-gated calcium channel activity
GO:0001948, GO:0016582 vezivanje za proteine
voltage-gated calcium channel activity involved in AV node cell action potential
voltage-gated calcium channel activity
voltage-gated calcium channel activity involved in cardiac muscle cell action potential
actin filament binding
voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels
Ćelijska komponenta L-type voltage-gated calcium channel complex
membrana
ćelijska membrana
integral component of plasma membrane
Sarkolema
Naponom kontrolirani kalcijev kanal
photoreceptor ribbon synapse
presynapse
Biološki proces regulation of voltage-gated calcium channel activity
calcium ion import
regulation of ion transmembrane transport
ion transport
neuromuscular junction development
calcium ion transmembrane transport
calcium ion transport
Vid
positive regulation of calcium ion transport
chemical synaptic transmission
positive regulation of high voltage-gated calcium channel activity
regulation of heart rate by cardiac conduction
membrane depolarization during atrial cardiac muscle cell action potential
membrane depolarization during AV node cell action potential
positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
protein localization to plasma membrane
positive regulation of presynaptic cytosolic calcium concentration
induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration
cardiac conduction
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_000724
NM_001167945
NM_201570
NM_201571
NM_201572

NM_201590
NM_201593
NM_201596
NM_201597
NM_001330060

NM_001252533
NM_023116
NM_001309519

RefSeq (bjelančevina)
NP_000715
NP_001161417
NP_001316989
NP_963864
NP_963865

NP_963866
NP_963884
NP_963887
NP_963890
NP_963891

NP_001239462
NP_001296448
NP_075605
NP_001393019
NP_001393020

NP_001393021
NP_001393022
NP_001393023
NP_001393024
NP_001393025
NP_001393026
NP_001393027

Lokacija (UCSC)Chr 10: 18.14 – 18.54 MbChr 2: 14.61 – 14.99 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Podjedinica beta-2 naponski-ovisnog L-tipa kalcijskog kanala jest protein koji je kod ljudi kodiran genom CACNB2 sa hromosoma 10.[5][6][7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 660 aminokiselina, a molekulska težina 73.581 Da.[7]

1020304050
MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKN
RFKGSDGSTSSDTTSNSFVRQGSADSYTSRPSDSDVSLEEDREAVRREAE
RQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVPVPGMAISFEAKDFLHV
KEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKS
GGNSSSSLGDIVPSSRKSTPPSSAIDIDATGLDAEENDIPANHRSPKPSA
NSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMM
QKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSS
LAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISS
PKVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDAC
EHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQG
DQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLS
RQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDH
RHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAG
EWNRDVYIRQ

Klinički značaj[uredi | uredi izvor]

Mutacija gena CACNB2 povezana je sa Brugadainovim sindromom, autizmom, poremećajem pažnje i hiperaktivnosti (ADHD), bipolarnim poremećajem, veliki mdepresivnim poremećajem i shizofrenijom.[8]

Također pogledajte[uredi | uredi izvor]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165995 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057914 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P (Sep 1997). "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23". Hum Genet. 100 (2): 151–4. doi:10.1007/PL00008704. PMID 9254841. S2CID 5689556.
  6. ^ Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM (Jun 1993). "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol. 33 (1): 113–20. doi:10.1002/ana.410330126. PMID 8494331. S2CID 24241609.
  7. ^ a b "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
  8. ^ Cross-Disorder Group of the Psychiatric Genomics Consortium (2013). "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]