Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



EFHC2 Gene

protein-coding   GIFtS: 50
GCID: GC0XM044007

EF-Hand Domain (C-Terminal) Containing 2

(Previous names: mental retardation, X-linked 74)
(Previous symbol: MRX74)
  See EFHC2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
EF-Hand Domain (C-Terminal) Containing 21 2
MRX741 2
Mental Retardation, X-Linked 741 2
dJ1158H2.12
EF-Hand Domain-Containing Family Member C22

External Ids:    HGNC: 262331   Entrez Gene: 802582   Ensembl: ENSG000001836907   OMIM: 3008175   UniProtKB: Q5JST63   

Export aliases for EFHC2 gene to outside databases

Previous GC identifers: GC0XM043764 GC0XM043892 GC0XM041736


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

TryGeneCards Plus

Entrez Gene summary for EFHC2 Gene:
This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related
protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the
development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in
individuals with Turner syndrome. (provided by RefSeq, Aug 2011)

GeneCards Summary for EFHC2 Gene:
EFHC2 (EF-hand domain (C-terminal) containing 2) is a protein-coding gene. Diseases associated with EFHC2 include turner syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHC1.




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EFHC2 gene promoter:
         RFX1   CUTL1   MIF-1   NF-AT   NF-AT4   POU2F1   NF-AT2   POU2F1a   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEFHC2 promoter sequence
   Search Chromatin IP Primers for EFHC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFHC2


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

Entrez Gene cytogenetic band: Xp11.3   Ensembl cytogenetic band:  Xp11.3   HGNC cytogenetic band: Xp11

EFHC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFHC2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM044007:  view genomic region     (about GC identifiers)

Start:
44,007,128 bp from pter      End:
44,202,923 bp from pter
Size:
195,796 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: EFHC2_HUMAN, Q5JST6 (See protein sequence)
Recommended Name: EF-hand domain-containing family member C2  
Size: 749 amino acids; 87397 Da
Sequence caution: Sequence=CAI40213.1; Type=Erroneous initiation; Sequence=CAI42234.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for EFHC2:
2Z13 (3D)        2Z14 (3D)    
Secondary accessions: Q5JST8 Q68DK4 Q8NEI0 Q9H653
Alternative splicing: 2 isoforms:  Q5JST6-1   Q5JST6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFHC2: NX_Q5JST6

Explore proteomics data for EFHC2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys547

  • See EFHC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079460.2  
    ENSEMBL proteins: 
     ENSP00000404232  

    EFHC2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for EFHC2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for EFHC2
    GenScript Custom Purified and Recombinant Proteins Services for EFHC2
    Novus Biologicals EFHC2 Protein
    Novus Biologicals EFHC2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EFHC2

     
    Search eBioscience for Proteins for EFHC2 

     
    antibodies-online proteins for EFHC2 (3 products) 

     
    antibodies-online peptides for EFHC2

    EFHC2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for EFHC2
    Novus Biologicals EFHC2 Antibodies
    Abcam antibodies for EFHC2
    Cloud-Clone Corp. Antibodies for EFHC2
    ThermoFisher Antibody for EFHC2
    antibodies-online antibodies for EFHC2 (22 products) 

    EFHC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EFHC2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EFHC2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EFHC2
    Cloud-Clone Corp. CLIAs for EFHC2
    Search eBioscience for ELISAs for EFHC2 
    antibodies-online kits for EFHC2 (3 products) 


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

    TryGeneCards Plus
    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 Q5JST6

    ProtoNet protein and cluster: Q5JST6

    UniProtKB/Swiss-Prot: EFHC2_HUMAN, Q5JST6
    Similarity: Contains 3 DM10 domains
    Similarity: Contains 1 EF-hand domain


    Find genes that share domains with EFHC2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with EFHC2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for EFHC2:
     Decreased Tat-dependent transc  Decreased p24 protein expressi 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EFHC2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat EFHC2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate EFHC2:
    hsa-miR-187* hsa-miR-137 hsa-miR-3121-3p hsa-miR-876-5p hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmidEFHC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EFHC2
    Predesigned siRNA for gene silencing in human, mouse, rat EFHC2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EFHC2

    Clone
    Products:
         
    OriGene clones in human, mouse for EFHC2 (see all 7)
    OriGene ORF clones in mouse, rat for EFHC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EFHC2 (NM_025184)
    Sino Biological Human cDNA Clone for EFHC2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EFHC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHC2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EFHC2
    Browse ESI BIO Cell Lines and PureStem Progenitors for EFHC2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    nucleus1

    (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).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EFHC2
    Interactions:

        Search GeneGlobe Interaction Network for EFHC2

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

    4 Interacting proteins for EFHC2 (Q5JST63 ENSP000004042324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMB4P280703, ENSP000002905414I2D: score=2 STRING: ENSP00000290541
    EXOC8Q8IYI63, ENSP000003535644I2D: score=1 STRING: ENSP00000353564
    TUBGCP4Q9UGJ13, ENSP000002603834I2D: score=1 STRING: ENSP00000260383
    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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EFHC2



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for EFHC2 gene: 
    NM_025184.3  

    Unigene Cluster for EFHC2:

    EF-hand domain (C-terminal) containing 2
    Hs.521953  [show with all ESTs]
    Unigene Representative Sequence: NM_025184
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343571 ENST00000420999
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EFHC2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate EFHC2:
    hsa-miR-187* hsa-miR-137 hsa-miR-3121-3p hsa-miR-876-5p hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmidEFHC2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EFHC2
    Predesigned siRNA for gene silencing in human, mouse, rat EFHC2
    Clone
    Products:
         
    OriGene clones in human, mouse for EFHC2 (see all 7)
    OriGene ORF clones in mouse, rat for EFHC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EFHC2 (NM_025184)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EFHC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHC2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EFHC2
    OriGene qSTAR qPCR primer pairs in human, mouse for EFHC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EFHC2
      QuantiTect SYBR Green Assays in human, mouse, rat EFHC2
      QuantiFast Probe-based Assays in human, mouse, rat EFHC2

    Additional mRNA sequence: 

    AK026254.1 AK026496.1 AK291187.1 AK292967.1 AK297714.1 BC031039.1 CR749363.1 

    4 DOTS entries:

    DT.91674159  DT.75185185  DT.121306720  DT.121306716 

    12 AceView cDNA sequences:

    AV755842 AI565965 CN479103 AK026254 CA311019 AV723389 CR749363 BF966897 
    NM_025184 BC031039 BG215741 AK026496 

    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)
    About This Section

    TryGeneCards Plus

    EFHC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EFHC2 Expression
    About this image


    EFHC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Testis (Reproductive System)
    EFHC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EFHC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521953
        Custom PCR Arrays for EFHC2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EFHC2
    OriGene qSTAR qPCR primer pairs in human, mouse for EFHC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EFHC2
    QuantiTect SYBR Green Assays in human, mouse, rat EFHC2
    QuantiFast Probe-based Assays in human, mouse, rat EFHC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for EFHC2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efhc21 , 5 EF-hand domain (C-terminal) containing 21, 5 80.41(n)1
    74.3(a)1
      X (12.34 cM)5
    744051  NM_028916.41  NP_083192.21 
     171320495 
    chicken
    (Gallus gallus)
    Aves EFHC21 EF-hand domain (C-terminal) containing 2 65.23(n)
    56.64(a)
      418559  NM_001037829.1  NP_001032918.1 
    lizard
    (Anolis carolinensis)
    Reptilia EFHC26
    EF-hand domain (C-terminal) containing 2
    55(a)
    1 ↔ 1
    3(135343159-135439502)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia efhc21 EF-hand domain (C-terminal) containing 2 62.48(n)
    53.51(a)
      100126059  NM_001142661.1  NP_001136133.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.138202 Transcribed sequence with weak similarity to protein more 69.38(n)    BQ419929.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Efhc1.21 EFHC1 homologue 2 45.68(n)
    36.35(a)
      37284  NM_137615.2  NP_611459.1 


    ENSEMBL Gene Tree for EFHC2 (if available)
    TreeFam Gene Tree for EFHC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for EFHC2 gene
    EFHC12  
    1 SIMAP similar gene for EFHC2 using alignment to 1 protein entry:     EFHC2_HUMAN:
    EFHC1

    Find genes that share paralogs with EFHC2           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for EFHC2 (see all 2238)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401298571,2
    --43925281(+) GGAGCA/GTCTAT 1 -- int10--------
    rs43103481,2
    F--43925429(+) GACACA/C/TGCTGC 1 -- int10--------
    rs45827021,2
    C--43925430(+) ACACTG/TCTGCA 1 -- int12Minor allele frequency- T:0.00NA 4
    rs1904132951,2
    --43925478(+) TTGAGA/GTGTCA 1 -- int10--------
    rs1499551731,2
    C--43925736(+) AAATGC/TAGGGG 1 -- ut310--------
    rs1812342601,2
    --43925786(+) GGGGCA/GCGTGG 1 -- ut310--------
    rs1866077661,2
    --43925899(+) AATTAC/TACACA 1 -- ut310--------
    rs1451410911,2
    C--43925914(+) CATATA/CTTCCT 1 -- ut310--------
    rs1491129861,2
    C--43925942(+) TTAGAC/TAGAAA 1 -- ut310--------
    rs1895432641,2
    --43925998(+) TGCACA/GTGCGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EFHC2 (44007128 - 44202923 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EFHC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33270CNV Gain17666407

    Human Gene Mutation Database (HGMD): EFHC2
    Locus Specific Mutation Databases (LSDB): EFHC2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EFHC2
    DNA2.0 Custom Variant and Variant Library Synthesis for EFHC2

    (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

    TryGeneCards Plus
    OMIM gene information: 300817    OMIM disorders: --

    1 disease for EFHC2:    
    About MalaCards
    turner syndrome

    1 disease from the University of Copenhagen DISEASES database for EFHC2:
    Turner syndrome

    Find genes that share disorders with EFHC2           About GenesLikeMe

    Genetic Association Database (GAD): EFHC2
    Human Genome Epidemiology (HuGE) Navigator: EFHC2 (3 documents)

    Export disorders for EFHC2 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

    TryGeneCards Plus

    PubMed articles for EFHC2 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with EFHC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. (PubMed id 19429002)1, 4 Blaya C....Smoller J.W. (Neurosci. Lett. 2009)
    2. EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. (PubMed id 17948898)1, 4 Zinn A.R....Ross J.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    3. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. (PubMed id 17221867)1, 3 de Brouwer A.P....Hamel B.C. (Hum. Mutat. 2007)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. (PubMed id 16112844)1, 2 Gu W.... Steinlein O.K. (Epilepsy Res. 2005)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)
    9. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    10. Identification of host proteins required for HIV infection through a functional genomic screen. (PubMed id 18187620)1 Brass A.L....Elledge S.J. (Science 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 80258 HGNC: 26233 AceView: EFHC2 Ensembl:ENSG00000183690 euGenes: HUgn80258
    ECgene: EFHC2 H-InvDB: EFHC2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for EFHC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for EFHC2 gene:
    Search GeneIP for patents involving EFHC2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for EFHC2  
     OriGene qPCR primer pairs and template standards for EFHC2   OriGene Protein Over-expression Lysate for EFHC2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for EFHC2  
     OriGene qSTAR qPCR primer pairs in human, mouse for EFHC2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for EFHC2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EFHC2   OriGene Custom Protein Services for EFHC2  

     
     
     Block miRNA regulation of human, mouse, rat EFHC2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing EFHC2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFHC2 Predesigned siRNA for gene silencing in human, mouse, rat EFHC2
     QuantiFast Probe-based Assays in human, mouse, rat EFHC2 QuantiTect SYBR Green Assays in human, mouse, rat EFHC2
     Custom PCR Arrays for EFHC2 Search Chromatin IP Primers for EFHC2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EFHC2  Search GeneGlobe Interaction Network for EFHC2
     Regulatory tfbs in EFHC2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for EFHC2 GenScript cDNA clones with any tag delivered in your preferred vector for EFHC2
     GenScript Custom Assay Services for EFHC2 GenScript Custom overexpressing Cell Line Services for EFHC2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for EFHC2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for EFHC2
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     EFHC2 antibodies
     EFHC2 proteins
     EFHC2 lysates
     Antibodies for EFHC2
     See all of Abcam's Antibodies, Kits and Proteins for EFHC2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for EFHC2
     Antibodies for EFHC2
     ELISAs for EFHC2
     CLIAs for EFHC2



     Browse ESI BIO Cell Lines and PureStem Progenitors for EFHC2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC2
     SwitchGear 3'UTR luciferase reporter plasmids for EFHC2
     SwitchGear Promoter luciferase reporter plasmids for EFHC2
     ThermoFisher Antibody for EFHC2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHC2
     Browse compounds at ApexBio
     Search Addgene for plasmids for EFHC2
      Search eBioscience for proteins for EFHC2
      Search eBioscience for elisas for EFHC2
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for EFHC2
     antibodies-online antibodies for EFHC2 (22 products)
     antibodies-online kits for EFHC2 (3 products)
     antibodies-online peptides for EFHC2
     antibodies-online proteins for EFHC2 (3 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      EFHC2 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4