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CALB2 Gene

protein-coding   GIFtS: 59
GCID: GC16P071392

Calbindin 2

(Previous names: calbindin 2, 29kDa (calretinin))
Microbiology & Infectious Diseases Congress
  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
Calbindin 21 2     Calbindin 2, 29kDa (Calretinin)1
calretinin1 2     CAL22
29 KDa Calbindin2 3     Calbindin 2, (29kD, Calretinin)2
CAB292 3     Calbindin D29K2
CR2 3     

External Ids:    HGNC: 14351   Entrez Gene: 7942   Ensembl: ENSG000001721377   OMIM: 1140515   UniProtKB: P226763   

Export aliases for CALB2 gene to outside databases

Previous GC identifers: GC16P062284 GC16P072115 GC16P071128 GC16P071168 GC16P069950 GC16P057160


(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 CALB2 Gene:
This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of
this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular
functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of
neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and
some cancers. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jun 2010)

GeneCards Summary for CALB2 Gene:
CALB2 (calbindin 2) is a protein-coding gene. Diseases associated with CALB2 include mixed germ cell-sex cord neoplasm, and cystadenofibroma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SCGN.

UniProtKB/Swiss-Prot: CALB2_HUMAN, P22676
Function: Calretinin is a calcium-binding protein which is abundant in auditory neurons

Gene Wiki entry for CALB2 (Calretinin) 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  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CALB2 gene promoter:
         Max1   CREB   AML1a   MyoD   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   MIF-1   LyF-1   POU3F2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCALB2 promoter sequence
   Search Chromatin IP Primers for CALB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CALB2


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

Entrez Gene cytogenetic band: 16q22.2   Ensembl cytogenetic band:  16q22.2   HGNC cytogenetic band: 16q22.2

CALB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CALB2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P071392:  view genomic region     (about GC identifiers)

Start:
71,392,616 bp from pter      End:
71,424,341 bp from pter
Size:
31,726 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: CALB2_HUMAN, P22676 (See protein sequence)
Recommended Name: Calretinin  
Size: 271 amino acids; 31540 Da
Secondary accessions: A8K4Y1 Q53HD2 Q96BK4

Explore the universe of human proteins at neXtProt for CALB2: NX_P22676

Explore proteomics data for CALB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CALB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001731.2  NP_009019.1  

    ENSEMBL proteins: 
     ENSP00000307508   ENSP00000454639   ENSP00000454467   ENSP00000340294  

    CALB2 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
    OriGene Purified Protein for CALB2
    OriGene Protein Over-expression Lysate for CALB2
    OriGene MassSpec for CALB2
    OriGene Custom Protein Services for CALB2
    GenScript Custom Purified and Recombinant Proteins Services for CALB2
    Novus Biologicals CALB2 Proteins
    Novus Biologicals CALB2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CALB2
    Browse Proteins at Cloud-Clone Corp.

    CALB2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CALB2
    R&D Systems Antibodies for CALB2 (Calretinin)
    OriGene Antibodies for CALB2
    OriGene Custom Antibody Services for CALB2
    Novus Biologicals CALB2 Antibodies
    Abcam antibodies for CALB2
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for CALB2
    LSBio Antibodies in human, mouse, rat for CALB2

    CALB2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CALB2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CALB2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P22676

    ProtoNet protein and cluster: P22676

    UniProtKB/Swiss-Prot: CALB2_HUMAN, P22676
    Similarity: Belongs to the calbindin family
    Similarity: Contains 6 EF-hand domains


    CALB2 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: CALB2_HUMAN, P22676
    Function: Calretinin is a calcium-binding protein which is abundant in auditory neurons

         Genatlas biochemistry entry for CALB2:
    calbindin (29kDa),vitamin D dependent calcium binding protein 2,from the intestine

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    CALB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CALB2:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Calb2):
     behavior/neurological  nervous system  normal 

    CALB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Calb2tm1Map for CALB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CALB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CALB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CALB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CALB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CALB2:
    hsa-mir-335-5p (MIRT018745)

    Block miRNA regulation of human, mouse, rat CALB2 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CALB2:
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-30d hsa-miR-30a hsa-miR-9 hsa-miR-30b hsa-miR-3670 hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidCALB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CALB2
    Predesigned siRNA for gene silencing in human, mouse, rat CALB2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CALB2

    Clone
    Products:
         
    OriGene clones in human, mouse for CALB2 (see all 18)
    OriGene ORF clones in mouse, rat for CALB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CALB2 (NM_007088)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CALB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALB2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CALB2
    Browse ESI BIO Cell Lines and PureStem Progenitors for CALB2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALB2


    (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
    cytosol4
    cytoskeleton3
    nucleus3
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005921gap junction IEA--

    CALB2 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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        Pathway & Disease-focused RT2 Profiler PCR Array including CALB2: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CALB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CALB2 (P226763 ENSP000003075084) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT1P042643, ENSP000002522444I2D: score=2 STRING: ENSP00000252244
    TUBA4AP683663, ENSP000002484374I2D: score=2 STRING: ENSP00000248437
    GRIN2BQ132243I2D: score=1 
    KCNMA1Q127913I2D: score=1 
    GLI2ENSP000003545864STRING: ENSP00000354586
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051480cytosolic calcium ion homeostasis IEA--

    CALB2 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 CALB2

    1 HMDB Compound for CALB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for CALB2 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    b 723 79.9 32 16188134 (4), 16415794 (3), 16056246 (3), 12883236 (3) (see all 19)
    co 115 73.8 3 8864572 (2), 9042211 (1)
    gaba 61.6 68 10996158 (3), 8646756 (3), 18361442 (2), 19492025 (2) (see all 31)
    choline 55.3 28 1721693 (2), 9423187 (1), 10495446 (1), 12692854 (1) (see all 24)
    calcium 49.2 171 9368033 (7), 18044987 (7), 11440160 (5), 10082975 (4) (see all 67)
    progesterone 46.4 25 15084844 (2), 12217766 (1), 15086841 (1), 15206556 (1) (see all 25)
    mucicarmine 45 3 11710688 (2), 15239680 (1)
    glutamate 43.1 28 10430473 (2), 10684887 (1), 17439984 (1), 10392842 (1) (see all 18)
    estrogen 41.7 25 17667535 (2), 15084844 (2), 12217766 (1), 15086841 (1) (see all 24)
    carbocyanine 40.8 1 16125175 (1)



    CALB2 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 CALB2 gene (3 alternative transcripts): 
    NM_001740.4  NM_007088.3  NM_007087.2  

    Unigene Cluster for CALB2:

    Calbindin 2
    Hs.106857  [show with all ESTs]
    Unigene Representative Sequence: NM_001740
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302628(uc002faa.4 uc010vme.2) ENST00000562305 ENST00000490520
    ENST00000467817 ENST00000349553(uc002fac.4)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CALB2 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CALB2:
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-30d hsa-miR-30a hsa-miR-9 hsa-miR-30b hsa-miR-3670 hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidCALB2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CALB2
    Predesigned siRNA for gene silencing in human, mouse, rat CALB2
    Clone
    Products:
         
    OriGene clones in human, mouse for CALB2 (see all 18)
    OriGene ORF clones in mouse, rat for CALB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CALB2 (NM_007088)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CALB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALB2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CALB2
    OriGene qSTAR qPCR primer pairs in human, mouse for CALB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CALB2
      QuantiTect SYBR Green Assays in human, mouse, rat CALB2
      QuantiFast Probe-based Assays in human, mouse, rat CALB2

    Additional mRNA sequence: 

    AK222495.1 AK222648.1 AK291096.1 BC015484.2 NR_027910.2 X56667.1 

    6 DOTS entries:

    DT.310185  DT.100762092  DT.92421171  DT.92058224  DT.120660982  DT.92421172 

    Selected AceView cDNA sequences (see all 88):

    BM784590 CB154546 BM696239 AI871063 F06729 BM848443 BQ639244 BM708345 
    F05058 F02994 T28148 BM664507 BM761240 BQ935407 AI199351 BM795396 
    BM664668 BM703170 CB269223 NM_007087 BI753708 BE877787 BI916589 BI914964 

    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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    CALB2 expression in normal human tissues (normalized intensities)      CALB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACCACCCA
    CALB2 Expression
    About this image


    CALB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Cholinergic Amacrine Cells Inner Nuclear Layer
             Retinal cells
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Midbrain tegmentum
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     NULL (Sensory Organs)
             Retinal cells
    CALB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CALB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.106857

    UniProtKB/Swiss-Prot: CALB2_HUMAN, P22676
    Tissue specificity: Brain

        Pathway & Disease-focused RT2 Profiler PCR Array including CALB2: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CALB2
    OriGene qSTAR qPCR primer pairs in human, mouse for CALB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CALB2
    QuantiTect SYBR Green Assays in human, mouse, rat CALB2
    QuantiFast Probe-based Assays in human, mouse, rat CALB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALB2

    (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 CALB2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Calb21 , 5 calbindin 21, 5 91.02(n)1
    98.52(a)1
      8 (57.44 cM)5
    123081  NM_007586.11  NP_031612.11 
     1101425395 
    chicken
    (Gallus gallus)
    Aves CALB21 calbindin 2, 29kDa (calretinin) 81.04(n)
    86.99(a)
      396255  NM_205316.1  NP_990647.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia calb21 calbindin 2 72.68(n)
    79.32(a)
      100496513  XM_002931684.2  XP_002931730.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059479.12   -- 78.2(n)   393691  BC059479.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cbp53E3 calcium ion homeostasis calcium ion
    binding
    46(a)   53E4   --


    ENSEMBL Gene Tree for CALB2 (if available)
    TreeFam Gene Tree for CALB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CALB2 gene
    SCGN2  CALB12  
    3 SIMAP similar genes for CALB2 using alignment to 4 protein entries:     CALB2_HUMAN (see all proteins):
    CALB1    SCGN    PLS1

    CALB2 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 CALB2 (see all 842)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862721581,2
    --71390656(+) TTAATC/TCTCAG 3 -- us2k10--------
    rs1396016631,2
    C--71390738(+) AGTGGC/TGCGAT 3 -- us2k10--------
    rs356624801,2
    C--71390872(+) TTTTT-/T/T   
       TTTTT
    AGTAG
    3 -- us2k11NA 2
    rs1497565841,2
    C--71390969(+) AGGATA/TACAGG 3 -- us2k10--------
    rs345440641,2
    C--71391024(+) CACATG/ACCCAT 3 -- us2k13Minor allele frequency- A:0.37NA EA 242
    rs1446761641,2
    --71391039(+) CAGAAA/GAGAAA 3 -- us2k10--------
    rs1146902381,2
    C,F--71391099(+) TTCTGG/CGATTC 3 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1180494461,2
    F--71391145(+) TAACCA/TCTGAG 3 -- us2k11Minor allele frequency- T:0.03EA 120
    rs99405071,2
    C,F,H--71391170(+) TAGGGG/ACTTTG 3 -- us2k1 tfbs326Minor allele frequency- A:0.08NS EA NA WA CSA 2352
    rs1903925201,2
    --71391196(+) AGGTGA/GATGGG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for CALB2 (71392616 - 71424341 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CALB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2640068CNV Insertion19546169
    nsv7285OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CALB2
    DNA2.0 Custom Variant and Variant Library Synthesis for CALB2

    (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: 114051    OMIM disorders: --

    Selected diseases for CALB2 (see all 129):    About MalaCards
    mixed germ cell-sex cord neoplasm    cystadenofibroma    ovarian serous cystadenofibroma    inverted follicular keratosis
    trisomy 22    ovarian fibrothecoma    heart cancer    steatocystoma multiplex
    monophasic synovial sarcoma    pseudo-meigs syndrome    malignant biphasic mesothelioma    pericardial mesothelioma
    sex cord-gonadal stromal tumor    pleomorphic liposarcoma    mixed epithelial stromal tumour    ovarian small cell carcinoma
    meigs syndrome    adenofibroma    tenosynovial giant cell tumor    sarcomatoid mesothelioma

    10 diseases from the University of Copenhagen DISEASES database for CALB2:
    Benign mesothelioma     Malignant mesothelioma     Sex cord-gonadal stromal tumor     Sertoli cell tumor
    Carcinoma     Malignant pleural mesothelioma     Malignant peritoneal mesothelioma     Adenofibroma
    Sertoli-Leydig cell tumor     Schizophrenia

    CALB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CALB2 gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mesothelioma 89 153 17916095 (5), 10896333 (5), 15188136 (5), 11299732 (4) (see all 63)
    malignant mesothelioma 87.9 35 14652817 (3), 8764740 (3), 14608532 (2), 17361207 (2) (see all 22)
    sex cord-stromal tumor 85.4 16 11603218 (2), 15256111 (2), 19550372 (2), 15626916 (1) (see all 12)
    sertoli-leydig cell tumor 84.1 8 15754297 (2), 11603218 (2), 12409724 (1), 19033865 (1) (see all 5)
    adenomatoid tumor 82.8 4 19543245 (2), 14608532 (1), 10414506 (1)
    epithelial mesothelioma 81.3 6 9796717 (2), 15093134 (1), 15064170 (1), 11381372 (1) (see all 5)
    sertoli cell tumor 80.4 6 17721194 (4), 19033865 (1)
    granulosa cell tumor 78.6 8 19115695 (2), 12409724 (1), 15381902 (1), 15754297 (1) (see all 6)
    pleural malignant mesothelioma 74.3 14 10697265 (2), 17279584 (2), 9796717 (2), 10595711 (1) (see all 11)
    thecoma 70.8 2 12409724 (1), 15754297 (1)

    Genetic Association Database (GAD): CALB2
    Human Genome Epidemiology (HuGE) Navigator: CALB2 (1 document)

    Export disorders for CALB2 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 CALB2 gene, integrated from 10 sources (see all 700):
    (articles sorted by number of sources associating them with CALB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterozygosity of SNP513 in intron 9 of the human calretinin gene (CALB2) is a risk factor for colon cancer. (PubMed id 18214032)1, 4, 9 Vonlanthen S....Schwaller B. (Anticancer Res. 2007)
    2. Structure of the human brain calcium-binding protein calretinin and its expression in bacteria. (PubMed id 2001709)1, 2, 9 Parmentier M. and Lefort A. (Eur. J. Biochem. 1991)
    3. The human calbindin D28k (CALB1) and calretinin (CALB2) genes are located at 8q21.3----q22.1 and 16q22----q23, respectively, suggesting a common duplication with the carbonic anhydrase isozyme loci. (PubMed id 1906795)1, 3, 9 Parmentier M....Mattei M.G. (Cytogenet. Cell Genet. 1991)
    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. The human calbindins: cDNA and gene cloning. (PubMed id 2618861)1, 2 Parmentier M. (Adv. Exp. Med. Biol. 1989)
    6. Association between the calcium-binding protein calretinin and cytoskeletal components in the human colon adenocarcinoma cell line WiDr. (PubMed id 10942575)1, 9 Marilley D. and Schwaller B. (Exp. Cell Res. 2000)
    7. A bipartite butyrate-responsive element in the human calretinin (CALB2) promoter acts as a repressor in colon carcinoma cells but not in mesothelioma cells. (PubMed id 19998412)1, 9 HAoner K....Schwaller B. (J. Cell. Biochem. 2010)
    8. Calretinin and CD34 immunoreactivity of the endometrial stroma in normal endometrium and change of the immunoreactivity in dysfunctional uterine bleeding with evidence of 'disordered endometrial stroma'. (PubMed id 18604736)1, 9 Mai K.T....Veinot J.P. (Pathology 2008)
    9. Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease. (PubMed id 19648883)1, 9 Guinard-Samuel V....Berrebi-Binczak D. (Mod. Pathol. 2009)
    10. Calretinin expression in the differential diagnosis of human ameloblastoma and keratocystic odontogenic tumor. (PubMed id 18223328)1, 9 DeVilliers P....Wright T. (Am. J. Surg. Pathol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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: 794 HGNC: 1435 AceView: CALB2 Ensembl:ENSG00000172137 euGenes: HUgn794
    ECgene: CALB2 H-InvDB: CALB2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CALB2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Calbindin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CALB2 gene:
    Search GeneIP for patents involving CALB2

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



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