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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNG6 Gene

protein-coding   GIFtS: 54
GCID: GC19P054495

calcium channel, voltage-dependent, gamma subunit 6

 Explore 1 disease affiliated with
CACNG6 via our new
 Human Malady Compendium 
Biological research products
for CACNG6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, Gamma Subunit 61 2
Neuronal Voltage-Gated Calcium Channel Gamma-6 Subunit2 3
Voltage-Dependent Calcium Channel Gamma-6 Subunit2

External Ids:    HGNC: 136251   Entrez Gene: 592852   Ensembl: ENSG000001304337   OMIM: 6068985   UniProtKB: Q9BXT23   

Export aliases for CACNG6 gene to outside databases

Previous GC identifers: GC19P055141 GC19P054920 GC19P059170 GC19P059187 GC19P050811


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CACNG6:
Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of
these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral
membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of
a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with
two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing
results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma.
(provided by RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: CCG6_HUMAN, Q9BXT2
Function: Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNG6 gene promoter:
         AhR   AP-2gamma   YY1   C/EBPalpha   CBF-A   AP-2beta   AP-2alpha   AP-2alphaA   ATF6   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNG6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNG6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNG6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

CACNG6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNG6 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P054495:  view genomic region     (about GC identifiers)

Start:
54,495,542 bp from pter      End:
54,515,923 bp from pter
Size:
20,382 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CCG6_HUMAN, Q9BXT2 (See protein sequence)
Recommended Name: Voltage-dependent calcium channel gamma-6 subunit  
Size: 260 amino acids; 28129 Da
Subunit: The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)

Explore the universe of human proteins at neXtProt for CACNG6: NX_Q9BXT2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BXT2

  • CACNG6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_114103.2  NP_665813.1  NP_665814.1  

    ENSEMBL proteins: 
     ENSP00000252729   ENSP00000319097   ENSP00000319135  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891voltage-gated calcium channel complex NAS11170751
    GO:0016020membrane ----


    CACNG6 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CACNG6 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR008368 VDCC_gsu
     IPR008370 VDCC_g6su

    Graphical View of Domain Structure for InterPro Entry Q9BXT2

    ProtoNet protein and cluster: Q9BXT2

    1 Blocks protein family: IPB006187 Claudin family signature

    UniProtKB/Swiss-Prot: CCG6_HUMAN, Q9BXT2
    Similarity: Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CCG6_HUMAN, Q9BXT2
    Function: Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity)

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    hsa-miR-296-5p hsa-miR-1282 hsa-miR-450b-5p hsa-miR-3144-5p
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity NAS11170751


    CACNG6 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CACNG6:
     Increased gamma-H2AX phosphory 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cacng6):
     normal 

    CACNG6 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/21 super-pathways (see all 21About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression1.00
    Caspase Cascade0.24
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.22
    nNOS Signaling in Skeletal Muscle0.37
    2PKC-Theta Pathway
    PKC-Theta Pathway1.00
    Fc-EpsilonRI Pathway0.42
    TCR Signaling0.68
    PDGF Pathway0.35
    ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    5NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy1.00
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CACNG6
        Transcription CREB pathway

    5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNG6 (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNG6
        Transcription CREB pathway

    1 BioSystems Pathway for CACNG6 
        Arrhythmogenic right ventricular cardiomyopathy


    5         Kegg Pathways  (Kegg details for CACNG6):
        MAPK signaling pathway
    Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    CACNG6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNG6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/46 Interacting proteins for CACNG6 (ENSP000002527294) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1DENSP000002881394STRING: ENSP00000288139
    CACNA1FENSP000003654414STRING: ENSP00000365441
    CACNA2D1ENSP000003493204STRING: ENSP00000349320
    CACNB3ENSP000003010504STRING: ENSP00000301050
    CACNB4ENSP000003435634STRING: ENSP00000343563
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006816calcium ion transport NAS11170751
    GO:0051925regulation of calcium ion transport via voltage-gated calcium channel activity ----


    CACNG6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CACNG6

    1 HMDB Compound for CACNG6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about CACNG6 / CCG6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CACNG6 gene (3 alternative transcripts): 
    NM_031897.2  NM_145814.1  NM_145815.1  

    Unigene Cluster for CACNG6:

    Calcium channel, voltage-dependent, gamma subunit 6
    Hs.631560  [show with all ESTs]
    Unigene Representative Sequence: BC021552
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252729(uc002qct.3 uc002qcu.3 uc002qcv.3) ENST00000346968
    ENST00000352529

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    hsa-miR-296-5p hsa-miR-1282 hsa-miR-450b-5p hsa-miR-3144-5p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF288386.1 AF361352.1 BC021552.1 

    2 DOTS entries:

    DT.95146493  DT.100019152 

    13 AceView cDNA sequences:

    NM_031897 BC021552 NM_145815 AF361352 NM_145814 AF288386 BX281606 BI831770 
    BG910745 BX117478 AI864617 AA329387 BE258800 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CACNG6    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:                                    
    SP2:        -           -               


    ECgene alternative splicing isoforms for CACNG6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACNG6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTTTTACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CACNG6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CACNG6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNG6

    SOURCE GeneReport for Unigene cluster: Hs.631560
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNG6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CACNG6 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacng61 , 5 calcium channel, voltage-dependent, gamma subunit 61, 5 83.46(n)1
    86.33(a)1
      7 (2.00 cM)5
    543781  NM_133183.11  NP_573446.11 
     34246625 
    lizard
    (Anolis carolinensis)
    Reptilia CACNG66
    --
    51(a)
    1 ↔ 1
    GL343329.1(414905-446737)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000032201 voltage-dependent calcium channel gamma-6 subunit-like 57.4(n)
    49.79(a)
      100003220  XM_001342797.2  XP_001342833.1 


    ENSEMBL Gene Tree for CACNG6 (if available)
    TreeFam Gene Tree for CACNG6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNG6 gene
    CACNG12  
    1 SIMAP similar gene for CACNG6 using alignment to 3 protein entries:     CCG6_HUMAN (see all proteins):
    CACNG1

    CACNG6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/561 NCBI SNPs in CACNG6 are shown (see all 561    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1859424431,2
    --54494123(+) CCCCAA/GCCCCT 3 -- us2k10--------
    rs583155721,2
    --54494208(+) CCTCCC/TTCAGA 3 -- us2k10--------
    rs584871221,2
    --54494255(+) CCCAGA/GAGTCC 3 -- us2k10--------
    rs116669511,2
    C,H,--54494266(+) aggccC/Tcagtc 3 -- us2k10--------
    rs557860171,2
    --54494287(+) CAGACC/TCAGGA 3 -- us2k10--------
    rs1390991411,2
    --54494313(+) CTCCTC/TCCTCA 3 -- us2k10--------
    rs559380351,2
    --54494329(+) AGGAGC/TCCAGA 3 -- us2k10--------
    rs1509628941,2
    --54494330(+) GGAGTC/TCAGAC 3 -- us2k10--------
    rs558562741,2
    --54494334(+) TCCAGA/C/GCCCCA 3 -- us2k10--------
    rs1498335321,2
    --54494365(+) AGGAGC/TTCAGG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for CACNG6 (54495542 - 54515923 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CACNG6
         3 CNVs: 78264 5115 78265

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CACNG6 for disorders           About GeneDecksing

    OMIM gene information: 606898    OMIM disorders: --

    1 disease for CACNG6:    About MalaCards
    asthma

    Human Genome Epidemiology (HuGE) Navigator: CACNG6 (1 document)

    Export disorders for CACNG6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CACNG6 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CACNG6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A cluster of three novel Ca(2+) channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. (PubMed id 11170751)1, 2, 3 Burgess D.L.... Noebels J.L. (2001)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Calcium channel gamma subunits provide insights into the evolution of this gene family. (PubMed id 11738816)1, 2 Chu P.-J.... Best P.M. (2001)
    4. Association of CACNG6 polymorphisms with aspirin-into lerance asthmatics in a Korean population. (PubMed id 20860846)1 Lee J.S....Shin H.D. (2010)
    5. Calcium channel gamma subunits: a functionally divers e protein family. (PubMed id 17652770)1 Chen R.S....Best P.M. (2007)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. A critical GxxxA motif in the gamma6 calcium channel subunit mediates its inhibitory effect on Cav3.1 calcium current. (PubMed id 18818244)9 Lin Z....Best P.M. (2008)
    8. Calcium channel gamma6 subunits are unique modulators of low voltage-activated (Cav3.1) calcium current. (PubMed id 15572045)9 Hansen J.P....Best P.M. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 59285 HGNC: 13625 AceView: CACNG6 Ensembl:ENSG00000130433 euGenes: HUgn59285
    ECgene: CACNG6 Kegg: 59285 H-InvDB: CACNG6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNG6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for CACNG6 gene:
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