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NECAB2 Gene

protein-coding   GIFtS: 49
GCID: GC16P084002

N-Terminal EF-Hand Calcium Binding Protein 2

(Previous name: EF-hand calcium binding protein 2)
(Previous symbol: EFCBP2)
  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
N-Terminal EF-Hand Calcium Binding Protein 21 2     EF Hand Calcium Binding Protein 22
EFCBP21 2 3     N-Terminal EF-Hand Calcium-Binding Protein 22
EF-Hand Calcium Binding Protein 21 2     Neuronal Calcium Binding 22
Neuronal Calcium-Binding Protein 22 3     stip-22
Synaptotagmin-Interacting Protein 22 3     Stip-23
EF-Hand Calcium-Binding Protein 22 3     

External Ids:    HGNC: 237461   Entrez Gene: 545502   Ensembl: ENSG000001031547   UniProtKB: Q7Z6G33   

Export aliases for NECAB2 gene to outside databases

Previous GC identifers: GC16P083744 GC16P082560 GC16P069754


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NECAB2 Gene:
NECAB2 (N-terminal EF-hand calcium binding protein 2) is a protein-coding gene. Diseases associated with NECAB2 include neuronitis, and retinitis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NECAB1.

Gene Wiki entry for NECAB2 (EFCBP2) 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_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NECAB2 gene promoter:
         ER-alpha   HOXA3   AML1a   MyoD   HNF-4alpha2   E47   YY1   HNF-4alpha1   GATA-2   MZF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNECAB2 promoter sequence
   Search Chromatin IP Primers for NECAB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NECAB2


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

Entrez Gene cytogenetic band: 16q23.3   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q23.3-q24.1

NECAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NECAB2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P084002:  view genomic region     (about GC identifiers)

Start:
84,002,237 bp from pter      End:
84,036,381 bp from pter
Size:
34,145 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NECA2_HUMAN, Q7Z6G3 (See protein sequence)
Recommended Name: N-terminal EF-hand calcium-binding protein 2  
Size: 386 amino acids; 43194 Da
Sequence caution: Sequence=AAI31616.1; Type=Erroneous initiation; Sequence=BAC86948.1; Type=Erroneous initiation;
Secondary accessions: A2RRG3 O75547 Q6ZSK0

Explore the universe of human proteins at neXtProt for NECAB2: NX_Q7Z6G3

Explore proteomics data for NECAB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NECAB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061938.2  
    ENSEMBL proteins: 
     ENSP00000307449   ENSP00000457354   ENSP00000455322   ENSP00000455713  

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

    5 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR007138 Antibiotic_mOase
     IPR011008 Dimeric_a/b-barrel
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q7Z6G3

    ProtoNet protein and cluster: Q7Z6G3

    1 Blocks protein domain: IPB007138 Antibiotic biosynthesis monooxygenase

    UniProtKB/Swiss-Prot: NECA2_HUMAN, Q7Z6G3
    Similarity: Contains 1 ABM domain
    Similarity: Contains 2 EF-hand domains


    NECAB2 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI17689978
         
    NECAB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NECAB2:
     Synthetic lethal with Ras 

    Animal Models:
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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 UniProtKB/Swiss-Prot
    NECA2_HUMAN, Q7Z6G3: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    nucleus2
    lysosome1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    NECAB2 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 NECAB2
    Interactions:

        Search GeneGlobe Interaction Network for NECAB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for NECAB2 (Q7Z6G31, 2, 3 ENSP000003074494) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LNX1Q8TBB12, 3, ENSP000002639254MINT-67459 I2D: score=5 STRING: ENSP00000263925
    CCNKO759092, 3, ENSP000003745294MINT-66195 I2D: score=4 STRING: ENSP00000374529
    CENPOQ9BU642, 3, ENSP000002606624MINT-66522 I2D: score=4 STRING: ENSP00000260662
    FXR2P511162, 3, ENSP000002501134MINT-68287 I2D: score=4 STRING: ENSP00000250113
    TEX11Q8IYF32, 3, ENSP000003409954MINT-67182 I2D: score=4 STRING: ENSP00000340995
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----

    NECAB2 for ontologies           About GeneDecksing



    (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 NECAB2 (NECA2)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NECAB2 gene: 
    NM_019065.2  

    Unigene Cluster for NECAB2:

    N-terminal EF-hand calcium binding protein 2
    Hs.140950  [show with all ESTs]
    Unigene Representative Sequence: BC016979
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305202(uc002fhd.3) ENST00000565691(uc002fhe.3) ENST00000566836
    ENST00000567703 ENST00000564166
    miRNA
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    Additional mRNA sequence: 

    AF070637.1 AF193758.1 AK127376.1 AY299331.1 BC016979.1 BC131615.1 

    3 DOTS entries:

    DT.429654  DT.100752382  DT.100752381 

    Selected AceView cDNA sequences (see all 27):

    BC016979 AF070637 AF193758 BI488593 BI755862 AK127376 NM_019065 AY299331 
    BX281338 BI488688 BI488426 BM809002 BM887712 BI819305 BM995261 BF529612 
    BM807800 BI551955 CB156405 BF345121 T80509 BI753891 AI244349 R56588 

    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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    NECAB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCTGTAGT
    NECAB2 Expression
    About this image


    NECAB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
    NECAB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NECAB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.140950

    UniProtKB/Swiss-Prot: NECA2_HUMAN, Q7Z6G3
    Tissue specificity: Expressed in brain

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NECAB2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Necab21 , 5 N-terminal EF-hand calcium binding protein 21, 5 83.68(n)1
    85.49(a)1
      8 (67.73 cM)5
    1171481  NM_054095.21  NP_473436.11 
     1194467195 
    chicken
    (Gallus gallus)
    Aves NECAB21 N-terminal EF-hand calcium binding protein 2 71.87(n)
    66.15(a)
      415705  XM_414072.2  XP_414072.1 
    lizard
    (Anolis carolinensis)
    Reptilia NECAB26
    N-terminal EF-hand calcium binding protein 2
    85(a)
    1 ↔ 1
    LGc(6949793-7121366)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017319151 N-terminal EF-hand calcium-binding protein 2-like 70.85(n)
    69.85(a)
      101731915  XM_004913591.1  XP_004913648.1 
    zebrafish
    (Danio rerio)
    Actinopterygii necab21 N-terminal EF-hand calcium binding protein 2 67.86(n)
    66.82(a)
      565258  NM_001030195.1  NP_001025366.1 


    ENSEMBL Gene Tree for NECAB2 (if available)
    TreeFam Gene Tree for NECAB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NECAB2 gene
    NECAB12  NECAB32  
    2 SIMAP similar genes for NECAB2 using alignment to 5 protein entries:     NECA2_HUMAN (see all proteins):
    NECAB1    NECAB3

    NECAB2 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 NECAB2 (see all 1857)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs790877561,2
    C,F--84000482(+) TGCAGT/CTTTTT 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1859383671,2
    --84000634(+) ACCTCA/GCCCAG 1 -- us2k10--------
    rs1429413101,2
    --84000665(+) AGAGAC/TGGGGT 1 -- us2k10--------
    rs1466302021,2
    --84000700(+) TTGAAC/GTCCTG 1 -- us2k10--------
    rs1887558981,2
    --84000831(+) TGGCTC/GTGCCC 1 -- us2k10--------
    rs1414530081,2
    --84000870(+) GAGACC/GAAGTA 1 -- us2k10--------
    rs1810822531,2
    --84000874(+) CCAAGC/TACACC 1 -- us2k10--------
    rs1861260991,2
    --84000975(+) GGATGC/GATGGA 1 -- us2k10--------
    rs1907934761,2
    --84000991(+) GGATGG/TGTGGG 1 -- us2k10--------
    rs1836592701,2
    --84001345(+) GATGGA/GTGGAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NECAB2 (84002237 - 84036381 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NECAB2 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv357n27CNV Loss19166990
    nsv528396CNV Loss19592680
    nsv457594CNV Loss19166990
    esv28321CNV Loss19812545
    nsv827780CNV Loss20364138
    dgv2928n71CNV Loss21882294
    nsv457591CNV Loss19166990
    nsv907040CNV Loss21882294
    nsv907038CNV Gain21882294
    nsv471106CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for NECAB2:    
    About MalaCards
    neuronitis    retinitis    ataxia


    NECAB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NECAB2
    Human Genome Epidemiology (HuGE) Navigator: NECAB2 (2 documents)

    Export disorders for NECAB2 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 NECAB2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with NECAB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NECABs: a family of neuronal Ca(2+)-binding proteins with an unusual domain structure and a restricted expression pattern. (PubMed id 12044471)1, 2, 3 Sugita S.... Suedhof T.C. (Neuroscience 2002)
    2. 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)
    3. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    7. The association of metabotropic glutamate receptor type 5 with the neuronal Ca2+-binding protein 2 modulates receptor function. (PubMed id 19694902)1 Canela L....Ciruela F. (J. Neurochem. 2009)
    8. The neuronal Ca(2+) -binding protein 2 (NECAB2) interacts with the adenosine A(2A) receptor and modulates the cell surface expression and function of the receptor. (PubMed id 17689978)1 Canela L....Ciruela F. (Mol. Cell. Neurosci. 2007)
    9. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)

    (in PubMed, OMIM, and 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: 54550 HGNC: 23746 AceView: EFCBP2 Ensembl:ENSG00000103154 euGenes: HUgn54550
    ECgene: NECAB2 H-InvDB: NECAB2

    (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 NECAB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NECAB2 gene:
    Search GeneIP for patents involving NECAB2

    GeneCards and IP:
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