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EFCAB2 Gene

protein-coding   GIFtS: 43
GCID: GC01P245133

EF-Hand Calcium Binding Domain 2

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(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 Calcium Binding Domain 21 2
EF-Hand Calcium-Binding Domain-Containing Protein 22

External Ids:    HGNC: 281661   Entrez Gene: 842882   Ensembl: ENSG000002036667   UniProtKB: Q5VUJ93   

Export aliases for EFCAB2 gene to outside databases

Previous GC identifers: GC01P241460 GC01P243199 GC01P215516


(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 EFCAB2 Gene:
The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be
determined. Alternatively spliced transcripts have been observed. (provided by RefSeq, Mar 2014)

GeneCards Summary for EFCAB2 Gene:
EFCAB2 (EF-hand calcium binding domain 2) is a protein-coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CETN2.




(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 at NCBI GenBank:
NC_000001.10  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EFCAB2 gene promoter:
         c-Fos   AP-1   c-Jun   POU6F1 (c2)   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEFCAB2 promoter sequence
   Search Chromatin IP Primers for EFCAB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFCAB2


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

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

EFCAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFCAB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P245133:  view genomic region     (about GC identifiers)

Start:
245,133,007 bp from pter      End:
245,290,466 bp from pter
Size:
157,460 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EFCB2_HUMAN, Q5VUJ9 (See protein sequence)
Recommended Name: EF-hand calcium-binding domain-containing protein 2  
Size: 269 amino acids; 29714 Da
Secondary accessions: B4DZE9 Q59G23 Q9BS36
Alternative splicing: 3 isoforms:  Q5VUJ9-1   Q5VUJ9-2   Q5VUJ9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFCAB2: NX_Q5VUJ9

Explore proteomics data for EFCAB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EFCAB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001137415.1  NP_001277256.1  NP_115704.1  

    ENSEMBL proteins: 
     ENSP00000355480   ENSP00000355479   ENSP00000408661   ENSP00000355478   ENSP00000447807  
     ENSP00000405269   ENSP00000397120  

    EFCAB2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EFCAB2

     
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    Search eBioscience for ELISAs for EFCAB2 


    (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

    2 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry Q5VUJ9

    ProtoNet protein and cluster: Q5VUJ9

    UniProtKB/Swiss-Prot: EFCB2_HUMAN, Q5VUJ9
    Similarity: Contains 2 EF-hand domains


    Find genes that share domains with EFCAB2           About GenesLikeMe


    (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, 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.)
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         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 EFCAB2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EFCAB2
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    Predesigned siRNA for gene silencing in human, mouse, rat EFCAB2

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    GenScript: all cDNA clones in your preferred vector (see all 2): EFCAB2 (NM_001143943)
    Browse Sino Biological Human cDNA Clones
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    (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
    cytosol3
    nucleus2
    peroxisome2
    extracellular1
    mitochondrion1
    plasma membrane1

    (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 EFCAB2
    Interactions:

        Search GeneGlobe Interaction Network for EFCAB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for EFCAB2 (ENSP000003554804) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACOT11ENSP000003603664STRING: ENSP00000360366
    CACNA1SENSP000003551924STRING: ENSP00000355192
    CNSTENSP000003554704STRING: ENSP00000355470
    OR2AK2ENSP000003554364STRING: ENSP00000355436
    PHLDA3ENSP000003562784STRING: ENSP00000356278
    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 EFCAB2 (EFCB2)



    (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 )
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    REFSEQ mRNAs for EFCAB2 gene (3 alternative transcripts): 
    NM_001143943.1  NM_001290327.1  NM_032328.3  

    Unigene Cluster for EFCAB2:

    EF-hand calcium binding domain 2
    Hs.134857  [show with all ESTs]
    Unigene Representative Sequence: NR_026586
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391837 ENST00000518607 ENST00000366523(uc001ibc.2 uc010pyo.1)
    ENST00000366522(uc001ibd.2 uc010pyp.1 uc001ibe.2) ENST00000497591
    ENST00000447569 ENST00000473686 ENST00000366521 ENST00000487845 ENST00000549220
    ENST00000495271 ENST00000479260 ENST00000551317 ENST00000425550 ENST00000427529
    ENST00000479923
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EFCAB2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFCAB2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EFCAB2
      QuantiTect SYBR Green Assays in human, mouse, rat EFCAB2
      QuantiFast Probe-based Assays in human, mouse, rat EFCAB2

    Additional mRNA sequence: 

    AB209286.1 AK001393.1 AK090927.1 AK095945.1 AK302883.1 BC005357.1 NR_026586.1 NR_026587.1 
    NR_026588.1 

    13 DOTS entries:

    DT.305535  DT.75176886  DT.408981  DT.206220  DT.92424643  DT.97812529  DT.86840262  DT.121364555 
    DT.86856077  DT.95154065  DT.121364562  DT.91673478  DT.91980559 

    Selected AceView cDNA sequences (see all 103):

    AI631792 AI038779 AK001393 AW514044 CD652592 BM807519 BF725561 BE550301 
    AI889463 BM684229 AW614013 AA854683 AA384884 AI470056 AW450764 BX108465 
    BI546509 AK090927 BM727348 BG527976 BU561099 BF725560 AA779931 BU602782 

    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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    EFCAB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAGATCTT
    EFCAB2 Expression
    About this image

    EFCAB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EFCAB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134857
        Custom PCR Arrays for EFCAB2
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    In Situ
    Assay Products:
     

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

    Orthologs for EFCAB2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efcab21 , 5 EF-hand calcium binding domain 21, 5 86.42(n)1
    85.8(a)1
      1 (83.16 cM)5
    682261  NM_026626.21  NP_080902.11 
     1784058815 
    chicken
    (Gallus gallus)
    Aves EFCAB21 EF-hand calcium binding domain 2 74.49(n)
    68.52(a)
      421491  XM_419538.4  XP_419538.3 
    lizard
    (Anolis carolinensis)
    Reptilia EFCAB26
    EF-hand calcium binding domain 2
    76(a)
    1 ↔ 1
    GL343285.1(1263440-1273912)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia efcab21 EF-hand calcium binding domain 2 73.91(n)
    74.53(a)
      100489608  XM_002931483.2  XP_002931529.1 
    zebrafish
    (Danio rerio)
    Actinopterygii efcab21 EF-hand calcium binding domain 2 66.05(n)
    67.08(a)
      558031  XM_681196.5  XP_686288.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG110416
    CG94066
    (see all 9)
    --
    44(a)
    32(a)
    (see all 9)
    1 ↔ many
    1 ↔ many
    (see all 9)
    2R(16033638-16034329)
    2R(17029873-17030766)
    worm
    (Caenorhabditis elegans)
    Secernentea cal-56
    tnc-26
    (see all 3)
    Protein TNC-2 (tnc-2) mRNA, complete cds
    (see all 3)
    22(a)
    21(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    X(5074396-5078070) WBGene00006861
    II(10466852-10468344) WBGene00006583
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC316
    Calcium-binding component of the spindle pole body...
    25(a)
    1 → many
    XV(811008-811493) YOR257W


    ENSEMBL Gene Tree for EFCAB2 (if available)
    TreeFam Gene Tree for EFCAB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EFCAB2 gene
    CETN22  CETN12  CETN32  
    12 SIMAP similar genes for EFCAB2 using alignment to 5 protein entries:     EFCB2_HUMAN (see all proteins):
    CALML3    CALM2    CALM1    CETN1    CALM3    CETN2
    MYL1    CETN3    TNNC1    TNNC2    CALML5    CALML6

    Find genes that share paralogs with EFCAB2           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)
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    Selected SNPs for EFCAB2 (see all 3569)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1126104451,2
    C,F--245131216(+) CCACAT/CTCGGC 1 -- us2k12Minor allele frequency- C:0.07CSA WA 120
    rs115875831,2
    C,H--245131284(+) aactcA/Ttgacc 2 -- us2k10--------
    rs1878080941,2
    C--245131304(+) CCACCC/TGCTTC 2 -- us2k10--------
    rs1113442441,2
    C--245131361(+) CAGTAC/ATTTTA 2 -- us2k12Minor allele frequency- A:0.03CSA WA 120
    rs109273601,2
    C,F,A,H--245131447(+) AAGTCT/ATTGAG 2 -- us2k18Minor allele frequency- A:0.49NA WA EA 370
    rs787330401,2
    F--245131512(+) TGTACT/CAGATA 2 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1931676701,2
    C--245131522(+) ACCGGA/GGATAT 2 -- us2k10--------
    rs1437211381,2
    --245131534(+) TAAACA/GAATAA 2 -- us2k10--------
    rs1155272711,2
    C,F--245131592(+) GTGAAC/GGAACG 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs356493761,2
    C,F--245131637(+) GCATGA/GGGCCA 5 -- us2k12Minor allele frequency- G:0.00NA 4

    HapMap Linkage Disequilibrium report for EFCAB2 (245133007 - 245290466 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EFCAB2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726740CNV Deletion23290073
    esv2726762CNV Deletion23290073
    esv2669322CNV Deletion23128226
    esv2673217CNV Deletion23128226
    esv2726729CNV Deletion23290073
    esv2726751CNV Deletion23290073
    esv2663617CNV Deletion23128226
    nsv5188CNV Insertion18451855
    esv269284CNV Insertion20981092
    esv273990CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EFCAB2
    DNA2.0 Custom Variant and Variant Library Synthesis for EFCAB2

    (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.)
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    Find genes that share disorders with EFCAB2           About GenesLikeMe

    Genetic Association Database (GAD): EFCAB2
    Human Genome Epidemiology (HuGE) Navigator: EFCAB2 (1 document)

    Export disorders for EFCAB2 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 EFCAB2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with EFCAB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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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: 84288 HGNC: 28166 AceView: MGC12458 Ensembl:ENSG00000203666 euGenes: HUgn84288
    ECgene: EFCAB2 H-InvDB: EFCAB2

    (According to HUGE)
    About This Section

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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 EFCAB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EFCAB2 gene:
    Search GeneIP for patents involving EFCAB2

    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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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