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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CALB1 Gene

protein-coding   GIFtS: 62
GCID: GC08M091070

Calbindin 1, 28kDa


(Previous symbol: CALB)
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)
About This Section

Aliases
Calbindin 1, 28kDa1 2     calbindin2
CALB1 2     Calbindin 1, (28kD)2
Calbindin D282 3     RTVL-H Protein2
Vitamin D-Dependent Calcium-Binding Protein, Avian-Type2 3     CAB273
D-28K2 3     

External Ids:    HGNC: 14341   Entrez Gene: 7932   Ensembl: ENSG000001043277   OMIM: 1140505   UniProtKB: P059373   

Export aliases for CALB1 gene to outside databases

Previous GC identifers: GC08M089502 GC08M090803 GC08M091027 GC08M091140 GC08M086281


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

Entrez Gene summary for CALB1 Gene:
Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a
27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of
vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that
presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease
are calbindin-depleted. (provided by RefSeq, Jul 2008)

GeneCards Summary for CALB1 Gene: 
CALB1 (calbindin 1, 28kDa) is a protein-coding gene. Diseases associated with CALB1 include thyroid medullary carcinoma, and placental insufficiency, and among its related super-pathways are Transcription Role of VDR in regulation of genes involved in osteoporosis. GO annotations related to this gene include vitamin D binding and calcium ion binding. An important paralog of this gene is SCGN.

UniProtKB/Swiss-Prot: CALB1_HUMAN, P05937
Function: Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide
phosphodiesterase




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CALB1 gene promoter:
         NRSF form 1   NRSF form 2   C/EBPalpha   CHOP-10   Nkx6-1   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCALB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CALB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CALB1


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

Entrez Gene cytogenetic band: 8q21.3   Ensembl cytogenetic band:  8q21.3   HGNC cytogenetic band: 8q21.3

CALB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CALB1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M091070:  view genomic region     (about GC identifiers)

Start:
91,070,836 bp from pter      End:
91,107,703 bp from pter
Size:
36,868 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CALB1_HUMAN, P05937 (See protein sequence)
Recommended Name: Calbindin  
Size: 261 amino acids; 30025 Da
Subunit: Interacts with RANBP9
Secondary accessions: B2R696

Explore the universe of human proteins at neXtProt for CALB1: NX_P05937

Explore proteomics data for CALB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05937

  • CALB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CALB1 Protein Expression
    REFSEQ proteins: NP_004920.1  
    ENSEMBL proteins: 
     ENSP00000265431   ENSP00000429602   ENSP00000429246   ENSP00000430281   ENSP00000430192  

    Human Recombinant Protein Products for CALB1: 
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    Novus Biologicals CALB1 Proteins
    Novus Biologicals CALB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CALB1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA16928804
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--
    GO:0030424axon ISS--

    CALB1 for ontologies           About GeneDecksing



    CALB1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CALB1
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    Abcam antibodies for CALB1
    Browse Antibodies at Cloud-Clone Corp. 
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    LSBio Antibodies in human, mouse, rat for CALB1 

    Assay Products for CALB1: 
    Browse Kits and Assays available from EMD Millipore
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    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)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

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

    Graphical View of Domain Structure for InterPro Entry P05937

    ProtoNet protein and cluster: P05937

    UniProtKB/Swiss-Prot: CALB1_HUMAN, P05937
    Domain: This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for
    calcium
    Similarity: Belongs to the calbindin family
    Similarity: Contains 5 EF-hand domains


    CALB1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CALB1_HUMAN, P05937
    Function: Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide
    phosphodiesterase

         Genatlas biochemistry entry for CALB1:
    calbindin (28kDa),vitamin D dependent calcium binding protein 1,from the intestine

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005499vitamin D binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI16763551
         
    CALB1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Calb1):
     behavior/neurological  hearing/vestibular/ear  nervous system 

    CALB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Calb1tm1Mpin for CALB1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CALB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CALB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CALB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CALB1 

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    hsa-miR-193a-3p hsa-miR-4254 hsa-miR-24-1* hsa-miR-4305 hsa-miR-301a hsa-miR-186 hsa-miR-376c hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidCALB1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALB1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CALB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Role of VDR in regulation of genes involved in osteoporosis0.80
    2Neuroscience
    Neuroscience
    3"Ca, cAMP and Lipid Signaling"
    "Ca, cAMP and Lipid Signaling"
    4Endocrine and other factor-regulated calcium reabsorption
    Endocrine and other factor-regulated calcium reabsorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CALB1
        Transcription Role of VDR in regulation of genes involved in osteoporosis


    2 Cell Signaling Technology (CST) Pathways for CALB1
        Ca, cAMP and Lipid Signaling
    Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for CALB1
        Transcription Role of VDR in regulation of genes involved in osteoporosis


    1         Kegg Pathway  (Kegg details for CALB1):
        Endocrine and other factor-regulated calcium reabsorption


    CALB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CALB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for CALB1 (P059371, 2, 3 ENSP000002654314) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRPV5Q9NQA52, 3, ENSP000002653104MINT-2834893 MINT-2834584 MINT-2834867 MINT-2834926 I2D: score=2 STRING: ENSP00000265310
    TRPV6Q9H1D02, 3, ENSP000003523584MINT-2834911 I2D: score=2 STRING: ENSP00000352358
    IKBKGQ9Y6K91, 3, ENSP000003586224EBI-4286943,EBI-81279 I2D: score=1 STRING: ENSP00000358622
    RANBP9Q96S593, ENSP000000116194I2D: score=2 STRING: ENSP00000011619
    CACNA1DQ016683, ENSP000002881394I2D: score=1 STRING: ENSP00000288139
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007611learning or memory IEA--
    GO:0007626locomotory behavior IEA--
    GO:0010842retina layer formation IEA--
    GO:0035502metanephric part of ureteric bud development IEA--
    GO:0048167regulation of synaptic plasticity IEA--

    CALB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CALB1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CALB1

    1 HMDB Compound for CALB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/42 Novoseek inferred chemical compound relationships for CALB1 gene (see all 42)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 65.3 47 16144628 (3), 2268180 (2), 17408434 (2), 1601089 (2) (see all 26)
    calcium 60.4 138 1539638 (4), 9930735 (4), 15225809 (3), 8836530 (3) (see all 77)
    choline 54.4 18 10392842 (2), 11512670 (1), 10996158 (1), 11079716 (1) (see all 17)
    happ 50.6 3 16237173 (1), 16237174 (1)
    glutamate 48.8 24 11489442 (3), 14729126 (2), 9169536 (1), 15088712 (1) (see all 21)
    vitamin d 44 11 1624101 (2), 15225809 (1), 2268180 (1), 2344392 (1) (see all 8)
    1,25 dihydroxy vitamin d3 40.2 2 1646742 (2)
    quinolinic acid 38.6 11 7777157 (3), 10392842 (3), 7523988 (3)
    tyrosine 38.4 29 17376613 (2), 8576447 (2), 20383714 (2), 16738224 (2) (see all 24)
    nmda 34.4 10 9930735 (3), 7777157 (2), 9674563 (1), 15990326 (1)

    Search CenterWatch for drugs/clinical trials and news about CALB1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CALB1 gene: 
    NM_004929.2  

    Unigene Cluster for CALB1:

    Calbindin 1, 28kDa
    Hs.65425  [show with all ESTs]
    Unigene Representative Sequence: BX537530
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469032 ENST00000265431(uc011lge.1 uc003yel.1) ENST00000518457
    ENST00000497376 ENST00000522070 ENST00000523716(uc003yem.1) ENST00000520613
    ENST00000482702 ENST00000476853 ENST00000473670 ENST00000514406
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate CALB1 (see all 39):
    hsa-miR-193a-3p hsa-miR-4254 hsa-miR-24-1* hsa-miR-4305 hsa-miR-301a hsa-miR-186 hsa-miR-376c hsa-miR-130b
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    Additional mRNA sequence: 

    AK054881.1 AK295585.1 AK312491.1 AK315959.1 BC006478.1 BC020864.1 BX537530.1 S46006.1 
    X06661.1 

    6 DOTS entries:

    DT.95173951  DT.412786  DT.100667391  DT.97840993  DT.40114745  DT.102822674 

    24/153 AceView cDNA sequences (see all 153):

    BX537530 CB134794 BI821325 NM_004929 AI769475 AI222505 CB135574 X06661 
    BX503716 BX479729 BM849730 AI795912 AA894722 BM763570 AI222700 BC006478 
    AA886660 BC020864 AW250744 AI421936 F01934 BU733469 CB109104 AW044445 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CALB1    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
    SP1:        -     -     -                 -                                               -                     
    SP2:        -     -                       -                                                                     
    SP3:                                      -                                                                     
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for CALB1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CALB1 expression in normal human tissues (normalized intensities)      CALB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTGCAAAT
    CALB1 Expression
    About this image


    CALB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 35 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Globus Pallidus
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 9 entries
             Telencephalon
             brain/midbrain/lateral wall   
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Ureteric Bud Cells Ureteric Bud
             Ureteric Bud
             kidney ; cells in tubules   
             visceral organ/metanephros/renal cortex   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Horizontal Cells Inner Nuclear Layer
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             hIPS1

    See CALB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CALB1

    SOURCE GeneReport for Unigene cluster: Hs.65425
        SABiosciences Expression via Pathway-Focused PCR Arrays including CALB1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Nephrotoxicity in human mouse rat
              Huntington's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALB1

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for CALB1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Calb11 , 5 calbindin 11, 5 92.46(n)1
    98.47(a)1
      4 (6.66 cM)5
    123071  NM_009788.41  NP_033918.11 
     158812645 
    chicken
    (Gallus gallus)
    Aves CALB11 calbindin 1, 28kDa 78.85(n)
    79.62(a)
      396519  NM_205513.1  NP_990844.1 
    lizard
    (Anolis carolinensis)
    Reptilia CALB16
    Uncharacterized protein
    75(a)
    1 ↔ 1
    4(21412363-21443997)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.4592 Xenopus laevis calbindin D28k mRNA, complete cds 81.38(n)    U76636.1 
    zebrafish
    (Danio rerio)
    Actinopterygii calb11 calbindin 1 69.78(n)
    70.43(a)
      100001650  XM_001341568.1  XP_001341604.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cbp53E3 calcium ion homeostasis calcium ion
    binding
    44(a)   53E4   --


    ENSEMBL Gene Tree for CALB1 (if available)
    TreeFam Gene Tree for CALB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CALB1 gene
    SCGN2  CALB22  
    2 SIMAP similar genes for CALB1 using alignment to 5 protein entries:     CALB1_HUMAN (see all proteins):
    CALB2    SCGN

    CALB1 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/512 SNPs in CALB1 are shown (see all 512)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904284931,2
    --91231053(+) AGTTAA/GCTGGG 1 -- ds50010--------
    rs69856611,2
    C,F--91231067(+) ggtggC/Tgggca 1 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1819120261,2
    --91231114(+) GAATCA/GCTTGA 1 -- ds50010--------
    rs1870632141,2
    --91231148(+) GAGCCA/GAGACC 1 -- ds50010--------
    rs715287391,2
    C,F--91231194(+) ATTCCA/GTCTTG 1 -- ds50015Minor allele frequency- G:0.28NA CSA EA 246
    rs1420349251,2
    --91231358(+) TTTACA/GTTTAT 1 -- ds50010--------
    rs788679831,2
    C,F--91231371(+) AGATTC/ACTTAG 1 -- ds50011Minor allele frequency- A:0.08EA 120
    rs797103271,2
    C--91231418(+) CATCAA/TAGATT 1 -- ds50010--------
    rs18058711,2
    C,F,O,A,H--91231419(+) ATCATA/GGATTG 1 -- ds500123Minor allele frequency- N:0.00NS EA NA WA CSA 1430
    rs1910783411,2
    --91231578(+) TGTTGA/GATTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CALB1 (91070836 - 91107703 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CALB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv891183CNV Gain21882294
    essv1701CNV CNV17122850
    essv345CNV CNV17122850

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    (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.)
    About This Section
    OMIM gene information: 114050    OMIM disorders: --

    20/46 diseases for CALB1 (see all 46):    About MalaCards
    thyroid medullary carcinoma    placental insufficiency    endometritis    subependymal giant cell astrocytoma
    labyrinthitis    huntington's disease    adenomyosis    neuronal migration disorders
    tuberous sclerosis complex    status epilepticus    acquired immunodeficiency syndrome    olivopontocerebellar atrophy
    toxic encephalopathy    temporal lobe epilepsy    febrile seizures    ganglioglioma
    clear cell renal cell carcinoma    optic atrophy    encephalitis    motor neuron disease

    3 diseases from the University of Copenhagen DISEASES database for CALB1:
    Neurodegenerative disease     Brain disease     Schizophrenia

    CALB1 for disorders           About GeneDecksing


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

    10/23 Novoseek inferred disease relationships for CALB1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease 48.9 8 7777157 (6), 7678366 (1), 15990326 (1)
    epilepsy temporal lobe 42.4 2 9015323 (1), 10805100 (1)
    neuron loss 41.6 1 19399237 (1)
    gliosis 40.4 2 11153665 (1), 8930964 (1)
    hiv encephalitis 36.2 1 7745434 (1)
    neurodegeneration 35.4 2 15043712 (1), 15525338 (1)
    schizophrenia 34.7 11 12372661 (2), 14751422 (1), 8771223 (1), 15927548 (1) (see all 5)
    neuropathology 27.5 1 11153665 (1)
    alzheimers disease 22.4 5 1999232 (2), 8515868 (1), 11679085 (1), 8309638 (1)
    parkinson disease 20.2 7 10430829 (1), 18568448 (1), 15181237 (1), 1382801 (1) (see all 7)

    Genetic Association Database (GAD): CALB1
    Human Genome Epidemiology (HuGE) Navigator: CALB1 (2 documents)

    Export disorders for CALB1 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

    PubMed articles for CALB1 gene, integrated from 9 sources (see all 401):
    (articles sorted by number of sources associating them with CALB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease. (PubMed id 18568448)1, 4, 9 Mizuta I....Toda T. (2008)
    2. Calbindin-1 association and Parkinson's disease. (PubMed id 19674066)1, 4, 9 Soto-Ortolaza A.I....Ross O.A. (2010)
    3. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2004)
    6. Calbindin D28K interacts with Ran-binding protein M: identification of interacting domains by NMR spectroscopy. (PubMed id 12684061)1, 2 Lutz W.... Kumar R. (2003)
    7. The human calbindin 27-kDa gene: structural organization of the 5' and 3' regions, chromosomal assignment, and restriction fragment length polymorphism. (PubMed id 2565876)1, 2 Parmentier M.... Vassart G. (1989)
    8. Human 27-kDa calbindin complementary DNA sequence. Evolutionary and functional implications. (PubMed id 3691519)1, 2 Parmentier M.... Vassart G. (1987)
    9. Calbindin positive Purkinje cells in the pathology of human cerebellum occurring at the time of its development. (PubMed id 20054781)1, 9 Laure-Kamionowska M. and MaA9liA8ska D. (2009)
    10. Myo-inositol monophosphatase is an activated target of calbindin D28k. (PubMed id 12176979)1, 9 Berggard T....Linse S. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 793 HGNC: 1434 AceView: CALB1 Ensembl:ENSG00000104327 euGenes: HUgn793
    ECgene: CALB1 Kegg: 793 H-InvDB: CALB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CALB1 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.)
    About This Section
    Patent Information for CALB1 gene:
    Search GeneIP for patents involving CALB1

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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