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

CACNG5 Gene

protein-coding   GIFtS: 53
GCID: GC17P064873

calcium channel, voltage-dependent, gamma subunit 5

 Explore 2 diseases affiliated with
CACNG5 via our new
 Human Malady Compendium 
Biological research products
for CACNG5
    

(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 51 2
Neuronal Voltage-Gated Calcium Channel Gamma-5 Subunit2 3
Transmembrane AMPAR Regulatory Protein Gamma-52 3
TARP Gamma-52 3
Voltage-Dependent Calcium Channel Gamma-5 Subunit2

External Ids:    HGNC: 14091   Entrez Gene: 270912   Ensembl: ENSG000000754297   OMIM: 6064055   UniProtKB: Q9UF023   

Export aliases for CACNG5 gene to outside databases

Previous GC identifers: GC17M063533 GC17M066599 GC17P065290 GC17P065423 GC17P062303 GC17P060262


(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 CACNG5:
The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate
both trafficking and channel gating of the AMPA receptors. 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, a type I TARP and
a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. (provided
by RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: CCG5_HUMAN, Q9UF02
Function: Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating
properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA
receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. 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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNG5 gene promoter:
         C/EBPbeta   Brachyury   Lmo2   IRF-1   Cdc5   RORalpha2   Evi-1   S8   ZIC2/Zic2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNG5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNG5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNG5


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

Entrez Gene cytogenetic band: 17q24   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24

CACNG5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNG5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P064873:  view genomic region     (about GC identifiers)

Start:
64,831,235 bp from pter      End:
64,881,603 bp from pter
Size:
50,369 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: CCG5_HUMAN, Q9UF02 (See protein sequence)
Recommended Name: Voltage-dependent calcium channel gamma-5 subunit  
Size: 275 amino acids; 30903 Da
Subunit: The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an
auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4,
CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG7 and CACNG8. Interacts with GRIA1, GRIA2, GRIA3 and GRIA4 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (By similarity). Cell junction, synapse, postsynaptic cell
membrane, postsynaptic density (By similarity)
Secondary accessions: A8K2A6 Q547R3 Q8WXS7 Q9UHM3

Explore the universe of human proteins at neXtProt for CACNG5: NX_Q9UF02

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UF02

  • CACNG5 Protein expression data from MOPED and PaxDb:    About this image 
    CACNG5 Protein Expression
    REFSEQ proteins: NP_665810.1  
    ENSEMBL proteins: 
     ENSP00000436836   ENSP00000303092   ENSP00000169565  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014069postsynaptic density ISS--
    GO:0030054cell junction IEA--
    GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex ISS--
    GO:0045211postsynaptic membrane IEA--

    CACNG5 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

    CACNG5 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR008368 VDCC_gsu
     IPR004031 PMP22/EMP/MP20/Claudin
     IPR008369 VDCC_g5su

    Graphical View of Domain Structure for InterPro Entry Q9UF02

    ProtoNet protein and cluster: Q9UF02

    1 Blocks protein family: IPB008369 Voltage-dependent calcium channel gamma-5 subunit signature

    UniProtKB/Swiss-Prot: CCG5_HUMAN, Q9UF02
    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, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCG5_HUMAN, Q9UF02
    Function: Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating
    properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA
    receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the
    calcium channel in an inactivated (closed) state (By similarity)

         Genatlas biochemistry entry for CACNG5:
    calcium channel,voltage-dependent,gamma subunit 5

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity TAS10613843
    GO:0005515protein binding ----
    GO:0015075ion transmembrane transporter activity TAS10613843
         
    CACNG5 for ontologies           About GeneDecksing


    Animal Models:
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    (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 CACNG5
        Transcription CREB pathway

    5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNG5 (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNG5
        Transcription CREB pathway

    1 BioSystems Pathway for CACNG5 
        Arrhythmogenic right ventricular cardiomyopathy


    5         Kegg Pathways  (Kegg details for CACNG5):
        MAPK signaling pathway
    Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    CACNG5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNG5

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

    5/34 Interacting proteins for CACNG5 (ENSP000001695654) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKACAENSP000003095914STRING: ENSP00000309591
    PRKACBENSP000003597194STRING: ENSP00000359719
    PRKACGENSP000003664884STRING: ENSP00000366488
    PRKXENSP000002628484STRING: ENSP00000262848
    RASGRF1ENSP000004059634STRING: ENSP00000405963
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS10613843
    GO:0034220ion transmembrane transport ----
    GO:0051925regulation of calcium ion transport via voltage-gated calcium channel activity ----
    GO:2000311regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity ISS--

    CACNG5 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
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    Browse Tocris compounds for CACNG5

    1 HMDB Compound for CACNG5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about CACNG5 / CCG5 

    (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, Sirion Biotech, 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 CACNG5 gene (2 alternative transcripts): 
    NM_145811.2  NM_014404.1  

    Unigene Cluster for CACNG5:

    Calcium channel, voltage-dependent, gamma subunit 5
    Hs.278907  [show with all ESTs]
    Unigene Representative Sequence: AK290171
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533854(uc010wqi.2 uc010wqj.2) ENST00000307139 ENST00000169565


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    Additional cDNA sequence: 

    AF361351.1 AF458898.1 AK290171.1 BC101607.1 BC101633.1 

    2 DOTS entries:

    DT.97824194  DT.75104055 

    5 AceView cDNA sequences:

    AF148220 AF361351 NM_145811 AF458898 NM_014404 

    GeneLoc Exon Structure


    (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

    CACNG5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACAGGCCCC
    CACNG5 Expression
    About this image
    See CACNG5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNG5

    SOURCE GeneReport for Unigene cluster: Hs.278907
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    In Situ
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    (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 CACNG5 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008596141 voltage-dependent calcium channel gamma-5 subunit-like 83.15(n)
    93.82(a)
      100859614  XM_003642343.1  XP_003642391.1 
    lizard
    (Anolis carolinensis)
    Reptilia CACNG56
    --
    93(a)
    1 ↔ 1
    GL343250.1(45257-73260)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7974091 voltage-dependent calcium channel gamma-5 subunit-like 77.33(n)
    90.18(a)
      797409  XM_001337836.3  XP_001337872.1 


    ENSEMBL Gene Tree for CACNG5 (if available)
    TreeFam Gene Tree for CACNG5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNG5 gene
    CACNG42  CACNG72  CACNG22  CACNG82  CACNG32  
    3 SIMAP similar genes for CACNG5 using alignment to 1 protein entry:     CCG5_HUMAN:
    CACNG7    CACNG4    CACNG8

    CACNG5 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

    10/224 NCBI SNPs in CACNG5 are shown (see all 224    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1147724491,2
    F--64871431(+) TTTCAT/CTTCTC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1914289601,2
    --64871543(+) AGCCAA/GTATAT 1 -- us2k10--------
    rs1507727361,2
    --64871625(+) GCCAGC/TGTGCA 1 -- us2k10--------
    rs1154728311,2
    --64871677(+) CTCTCC/TTCCTA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs37602651,2
    C,F,A,H--64871721(-) AAATGG/AACAGA 1 -- us2k126Minor allele frequency- A:0.32EA NS NA WA CSA 3961
    rs1146439561,2
    F--64871863(+) CCCAAA/GCATCA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs728433661,2
    C,F--64871868(+) ACATCA/GCTAAC 1 -- us2k12Minor allele frequency- G:0.08WA NA 238
    rs98900011,2
    C--64871902(+) TTGCAA/GTATTG 1 -- us2k12Minor allele frequency- G:0.05WA 120
    rs1843286291,2
    --64871906(+) AATATA/TGCAAG 1 -- us2k10--------
    rs1897408891,2
    --64871930(+) ATGCCA/GACAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CACNG5 (64831235 - 64881603 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CACNG5
         1 CNV: 5027

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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

    CACNG5 for disorders           About GeneDecksing

    OMIM gene information: 606405    OMIM disorders: --

    2 diseases for CACNG5:    About MalaCards
    bipolar disorder    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: CACNG5 (1 document)

    Export disorders for CACNG5 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 CACNG5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CACNG5)
        Utopia: connect your pdf to the dynamic
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    1. Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication. (PubMed id 10613843)1, 2, 3 Burgess D.L.... Noebels J.L. (1999)
    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. The novel product of a five-exon stargazin-related gene abolishes CaV2.2 calcium channel expression. (PubMed id 11927536)1, 2 Moss F.J.... Dolphin A.C. (2002)
    4. 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)
    5. Case-case genome-wide association analysis shows mark ers differentially associated with schizophrenia and bipolar disorder and impli cates calcium channel genes. (PubMed id 21057379)1 Curtis D....Gurling H.M. (2011)
    6. Calcium channel gamma subunits: a functionally divers e protein family. (PubMed id 17652770)1 Chen R.S....Best P.M. (2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. 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)
    9. 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 Burgess D.L.... Noebels J.L. (2001)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27091 HGNC: 1409 AceView: CACNG5 Ensembl:ENSG00000075429 euGenes: HUgn27091
    ECgene: CACNG5 Kegg: 27091 H-InvDB: CACNG5

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for CACNG5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for CACNG5 gene:
    Search GeneIP for patents involving CACNG5

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