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EFHC1 Gene

protein-coding   GIFtS: 56
GCID: GC06P052284

EF-Hand Domain (C-Terminal) Containing 1

(Previous names: epilepsy, juvenile myoclonic 1)
(Previous symbols: EJM1, EJM)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
EF-Hand Domain (C-Terminal) Containing 11 2     EF-Hand Domain-Containing Protein 12
EJM11 2 5     Myoclonin-13
myoclonin-11 2     EJA15
EJM1     FLJ104665
Epilepsy, Juvenile Myoclonic 11     JAE5
dJ304B14.22     

External Ids:    HGNC: 164061   Entrez Gene: 1143272   Ensembl: ENSG000000960937   OMIM: 6088155   UniProtKB: Q5JVL43   

Export aliases for EFHC1 gene to outside databases

Previous GC identifers: GC00U991099 GC06U900420 GC06P052331 GC06P052393 GC06P052116


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EFHC1 Gene:
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in
calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic
epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. (provided
by RefSeq, Feb 2010)

GeneCards Summary for EFHC1 Gene:
EFHC1 (EF-hand domain (C-terminal) containing 1) is a protein-coding gene. Diseases associated with EFHC1 include efhc1-related juvenile myoclonic epilepsy, and juvenile absence epilepsy. GO annotations related to this gene include protein C-terminus binding and calcium ion binding. An important paralog of this gene is EFHC2.

UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
Function: May enhance calcium influx through CACNA1E and stimulate programmed cell death

Gene Wiki entry for EFHC1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the EFHC1 gene promoter:
         GR   RFX1   USF1   AML1a   Nkx2-2   POU2F1   USF-1   STAT3   ZIC2/Zic2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EFHC1 promoter sequence
   Search Chromatin IP Primers for EFHC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFHC1


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

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.2   HGNC cytogenetic band: 6p12.3

EFHC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFHC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P052284:  view genomic region     (about GC identifiers)

Start:
52,284,994 bp from pter      End:
52,387,892 bp from pter
Size:
102,899 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4 (See protein sequence)
Recommended Name: EF-hand domain-containing protein 1  
Size: 640 amino acids; 73990 Da
Subunit: Interacts with the C-terminus of CACNA1E
Secondary accessions: B4DMU3 F5GZD8 Q5XKM4 Q6E1U7 Q6E1U8 Q8WUL2 Q9NVW6
Alternative splicing: 3 isoforms:  Q5JVL4-1   Q5JVL4-2   Q5JVL4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFHC1: NX_Q5JVL4

Explore proteomics data for EFHC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EFHC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165891.1  NP_060570.2  

    ENSEMBL proteins: 
     ENSP00000434498   ENSP00000360107   ENSP00000444521   ENSP00000416492  

    EFHC1 Human Recombinant Protein Products:

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    Novus Biologicals EFHC1 Proteins
    Novus Biologicals EFHC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EFHC1

    EFHC1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for EFHC1

    EFHC1 Assay Products:

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    Cloud-Clone Corp. ELISAs for EFHC1
    Cloud-Clone Corp. CLIAs for EFHC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR010554 DUF1126
     IPR006602 Uncharacterised_DM10

    Graphical View of Domain Structure for InterPro Entry Q5JVL4

    ProtoNet protein and cluster: Q5JVL4

    UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
    Similarity: Contains 3 DM10 domains
    Similarity: Contains 1 EF-hand domain


    EFHC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EFHC1_HUMAN, Q5JVL4
    Function: May enhance calcium influx through CACNA1E and stimulate programmed cell death

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008022protein C-terminus binding ISS--
         
    EFHC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EFHC1:
     Decreased viability of wild-ty 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Efhc1):
     behavior/neurological  muscle  nervous system 

    EFHC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Efhc1tm1Kzy for EFHC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EFHC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EFHC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EFHC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EFHC1

    miRNA
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    miRTarBase miRNAs that target EFHC1:
    hsa-mir-17-5p (MIRT050971)

    Block miRNA regulation of human, mouse, rat EFHC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EFHC1 (see all 14):
    hsa-miR-485-5p hsa-miR-136 hsa-miR-3607-3p hsa-miR-607 hsa-miR-222* hsa-miR-331-3p hsa-miR-488 hsa-miR-548b-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EFHC1

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    GenScript: all cDNA clones in your preferred vector (see all 2): EFHC1 (NM_018100)
    Sino Biological Human cDNA Clone for EFHC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EFHC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHC1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium ----
    GO:0005930axoneme ISS--
    GO:0043025neuronal cell body ISS--

    EFHC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EFHC1
    Interactions:

        GeneGlobe Interaction Network for EFHC1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for EFHC1 (Q5JVL42, 3 ENSP000003601074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TEX11Q8IYF32, 3, ENSP000003409954MINT-66318 I2D: score=4 STRING: ENSP00000340995
    CACNA1EQ158783, ENSP000003565454I2D: score=2 STRING: ENSP00000356545
    PSMB4ENSP000002905414STRING: ENSP00000290541
    TDRD1ENSP000002518644STRING: ENSP00000251864
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EFHC1

    1 HMDB Compound for EFHC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for EFHC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 10.3 1 16572395 (1)



    EFHC1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EFHC1 gene (2 alternative transcripts): 
    NM_001172420.1  NM_018100.3  

    Unigene Cluster for EFHC1:

    EF-hand domain (C-terminal) containing 1
    Hs.403171  [show with all ESTs]
    Unigene Representative Sequence: NR_033327
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480623 ENST00000371068 ENST00000491749 ENST00000481466 ENST00000538167(uc003pap.4 uc011dww.2)
    ENST00000433625(uc011dwv.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat EFHC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EFHC1 (see all 14):
    hsa-miR-485-5p hsa-miR-136 hsa-miR-3607-3p hsa-miR-607 hsa-miR-222* hsa-miR-331-3p hsa-miR-488 hsa-miR-548b-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EFHC1
    Predesigned siRNA for gene silencing in human, mouse, rat EFHC1
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    OriGene ORF clones in mouse, rat for EFHC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EFHC1 (NM_018100)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EFHC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHC1
    Primer
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    OriGene qPCR primer pairs and template standards for EFHC1
    OriGene qSTAR qPCR primer pairs in human, mouse for EFHC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EFHC1
      QuantiTect SYBR Green Assays in human, mouse, rat EFHC1
      QuantiFast Probe-based Assays in human, mouse, rat EFHC1

    Additional mRNA sequence: 

    AK001328.1 AK094609.1 AK225543.1 AK295064.1 AK297632.1 AL122084.1 AY608689.1 BC012921.1 
    BC020210.1 EU520261.1 NR_033327.1 

    12 DOTS entries:

    DT.215610  DT.207736  DT.97784374  DT.95362352  DT.70104517  DT.100025000  DT.100659305  DT.100659307 
    DT.121389191  DT.121389225  DT.121389232  DT.95125733 

    Selected AceView cDNA sequences (see all 202):

    F01968 CB215558 AA053290 AW503355 AA454139 CR606154 BM978821 AI963736 
    BP375730 AL526877 CN478555 AA287162 AU280496 BM836789 CA312725 AA330970 
    BC012921 AI081858 BQ574334 CB160191 AI609176 BE048965 AA774082 BC020210 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EFHC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAGGCAA
    EFHC1 Expression
    About this image

    EFHC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EFHC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.403171

    UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
    Tissue specificity: Widely expressed. Not detected in lymphocytes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EFHC1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efhc11 , 5 EF-hand domain (C-terminal) containing 11, 5 83.49(n)1
    84.69(a)1
      1 (6.50 cM)5
    718771  NM_027974.11  NP_082250.11 
     209516265 
    chicken
    (Gallus gallus)
    Aves EFHC11 EF-hand domain (C-terminal) containing 1 67.24(n)
    67.08(a)
      422041  XM_420047.4  XP_420047.2 
    lizard
    (Anolis carolinensis)
    Reptilia EFHC16
    EF-hand domain (C-terminal) containing 1
    62(a)
    1 ↔ 1
    1(122922338-122946181)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.110872 Xenopus laevis transcribed sequence with weak similarity to protein refNP_060570.1 (H.sapiens) hypothetical protein FLJ10466 [Homo sapiens] less 71.81(n)    CF547854.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639312 similar to EF-hand domain (C-terminal) containing 1 less 70.35(n)   393942  BC054573.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0038051 AgaP_AGAP003805 48.58(n)
    44.28(a)
      1271542  XM_310360.7  XP_310360.7 
    worm
    (Caenorhabditis elegans)
    Secernentea Y49A10A.16
    Protein Y49A10A.1 (Y49A10A.1) mRNA, complete cds
    24(a)
    1 ↔ 1
    X(10358476-10360550) WBGene00013028


    ENSEMBL Gene Tree for EFHC1 (if available)
    TreeFam Gene Tree for EFHC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EFHC1 gene
    EFHC22  
    1 SIMAP similar gene for EFHC1 using alignment to 3 protein entries:     EFHC1_HUMAN (see all proteins):
    EFHC2

    EFHC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EFHC1 (see all 1582)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1490553341,2,,4
    C,FJuvenile myoclonic epilepsy 1 (EJM1)4 other152201631(+) GCCAAC/ACTAAA 5 /T /P mis11Minor allele frequency- A:0.01NA 4548
    rs797611831,2,,4
    C,FJuvenile myoclonic epilepsy 1 (EJM1)4 other152230300(+) TCTTCG/ATAAGT 5 /H /R mis12Minor allele frequency- A:0.01WA NA 4668
    VAR_0236254
    Juvenile myoclonic epilepsy 1 (EJM1)4--see VAR_0236252 D Y mis40--------
    VAR_0236224
    Juvenile myoclonic epilepsy 1 (EJM1)4--see VAR_0236222 D N mis40--------
    VAR_0431574
    Juvenile myoclonic epilepsy 1 (EJM1)4--see VAR_0431572 R W mis40--------
    rs38045051,2,,4
    C,F,Hother152216087(-) CAACGC/TGGAAA 5 H R mis1 ese326Minor allele frequency- T:0.04NS EA NA EU 8747
    rs1378527761,2,,4
    C,Fother152230323(+) CAGACT/CTTGAT 5 /L /F mis12Minor allele frequency- C:0.00NA EU 5873
    rs3709916281,2
    C--52130983(+) AGACC-/AT    
       
    /ATAT
    ATATA
    3 -- int10--------
    rs598027691,2
    C--52131003(+) ATATA-/TATA  
     
    /TATATA
    CATAC
    5 -- int1 cds10--------
    rs768847851,2
    C--52139716(+) ATTTCT/CGAGGG 3 -- int11Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for EFHC1 (52284994 - 52387892 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EFHC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522674CNV Loss19592680
    nsv517935CNV Loss19592680

    Human Gene Mutation Database (HGMD): EFHC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EFHC1
    DNA2.0 Custom Variant and Variant Library Synthesis for EFHC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608815   
    OMIM disorders: 254770  607631  
    UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
  • Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]: A subtype of idiopathic generalized epilepsy. Patients
    have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which
    usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Juvenile absence epilepsy 1 (JAE1) [MIM:607631]: A subtype of idiopathic generalized epilepsy
    characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS
    on awakening, and myoclonic seizures. Note=Disease susceptibility is associated with variations affecting the
    gene represented in this entry

  • 15 diseases for EFHC1:    About MalaCards
    efhc1-related juvenile myoclonic epilepsy    juvenile absence epilepsy    epilepsy, juvenile absence, susceptibility to, 1    unverricht-lundborg syndrome
    epilepsy, juvenile myoclonic 8    juvenile myoclonic epilepsy    epilepsy with generalized tonic-clonic seizures    idiopathic generalized epilepsy
    myoclonus    migraine    pulmonary function    multiple myeloma
    myeloma    malaria    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for EFHC1:
    Idiopathic generalized epilepsy     Juvenile absence epilepsy     Unverricht-Lundborg syndrome     Epilepsy with generalized tonic-clonic seizures

    EFHC1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for EFHC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myoclonic epilepsy juvenile 93.9 8 16824517 (2), 17634063 (2), 17054699 (1), 16839746 (1) (see all 6)
    epilepsy, idiopathic generalized 79.5 1 17336771 (1)
    epilepsy generalized 68.8 2 16049035 (1), 16278970 (1)

    Genetic Association Database (GAD): EFHC1
    Human Genome Epidemiology (HuGE) Navigator: EFHC1 (7 documents)

    Export disorders for EFHC1 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)
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    PubMed articles for EFHC1 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with EFHC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in EFHC1 cause juvenile myoclonic epilepsy. (PubMed id 15258581)1, 2, 3, 4 Suzuki T....Yamakawa K. (Nat. Genet. 2004)
    2. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. (PubMed id 17634063)1, 2, 9 Annesi F....Quattrone A. (Epilepsia 2007)
    3. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PubMed id 16839746)1, 4, 9 Ma S....Hedera P. (Epilepsy Res. 2006)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    6. DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. (PubMed id 18823326)1, 4 Bai D....Delgado-Escueta A.V. (Epilepsia 2009)
    7. Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG. (PubMed id 16378686)1, 4 Norberg A....Holmberg M. (Neurosci. Lett. 2006)
    8. Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. (PubMed id 17159113)1, 2 Stogmann E.... Zimprich A. (Neurology 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114327 HGNC: 16406 AceView: EFHC1 Ensembl:ENSG00000096093 euGenes: HUgn114327
    ECgene: EFHC1 H-InvDB: EFHC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EFHC1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EFHC1 gene:
    Search GeneIP for patents involving EFHC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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