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GIFtS

CSN3 Gene

protein-coding   GIFtS: 53
GCID: GC04P071156

casein kappa

(Previous names: casein, kappa )
(Previous symbol: CSN10)
 Explore 15 diseases affiliated with
CSN3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CSN3    

Aliases
for CSN3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Casein Kappa1 2     KCA2
CSN101 2 3 5     Kappa-Casein1
CSNK2 3     CASK3
Casein, Kappa1     

External Ids:    HGNC: 24461   Entrez Gene: 14482   Ensembl: ENSG000001712097   OMIM: 6016955   UniProtKB: P074983   

Export aliases for CSN3 gene to outside databases

Previous GC identifers: GC04P071358 GC04P071423 GC04P071289 GC04P066910


Summaries
for CSN3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: CASK_HUMAN, P07498
Function: Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk

Gene Wiki entry for CSN3


Genomic Views
for CSN3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_022778.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CSN3 gene promoter:
         TBP   AML1a   AP-1   ATF-2   HNF-3beta   RORalpha1   POU2F1   TFIID   POU2F1a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CSN3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CSN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSN3


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

Entrez Gene cytogenetic band: 4q21.1   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q21.1

CSN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSN3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071156:  view genomic region     (about GC identifiers)

Start:
 71,108,305 bp from pter      End:
 71,117,145 bp from pter
Size:
 8,841 bases      Orientation:
 plus strand

Proteins
for CSN3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CASK_HUMAN, P07498 (See protein sequence)
Recommended Name: Kappa-casein precursor  
Size: 182 amino acids; 20305 Da
Subunit: Heteromultimers composed of alpha-s1 casein and kappa casein linked by disulfide bonds
Subcellular location: Secreted
Secondary accessions: Q13575

Explore the universe of human proteins at neXtProt for CSN3: NX_P07498

Post-translational modifications:

  • The N-terminus is blocked1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07498

    • CSN3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005203.2  
    ENSEMBL proteins: 
     ENSP00000304822  

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    Uscn Proteins for CSN3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS--


    CSN3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CSN3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CSN3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000117 Casein_kappa

    Graphical View of Domain Structure for InterPro Entry P07498

    ProtoNet protein and cluster: P07498

    1 Blocks protein family: IPB000117 Kappa casein

    UniProtKB/Swiss-Prot: CASK_HUMAN, P07498
    Similarity: Belongs to the kappa-casein family


    Function
    for CSN3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CASK_HUMAN, P07498
    Function: Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSN3
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    SwitchGear 3'UTR luciferase reporter plasmid: CSN3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Animal Models:
         Mouse knock-out Csn3tm1Kuma for CSN3
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Csn3):
     endocrine/exocrine gland  integument 

    CSN3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CSN3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSN3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/19 Interacting proteins for CSN3 (P074981, 2, 3 ENSP000003048224) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRNPP041561, 3EBI-2602175,EBI-977302 I2D: score=1 
    CSNK2A2P197843, ENSP000002625064I2D: score=1 STRING: ENSP00000262506
    MAPRE1Q156913, ENSP000003647214I2D: score=1 STRING: ENSP00000364721
    CSN2P058143, ENSP000003410304I2D: score=1 STRING: ENSP00000341030
    COPS7AQ9UBW83, ENSP000002292514I2D: score=1 STRING: ENSP00000229251
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007595lactation IEA--


    CSN3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CSN3 gene

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

    CSN3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CSN3
    10/19 Novoseek chemical compound relationships for CSN3 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rennet 90.1 7 9839241 (1), 15747733 (1), 16674841 (1), 17658821 (1) (see all 6)
    whey 83.3 31 17658821 (3), 18701003 (2), 11358252 (2), 14705892 (2) (see all 19)
    glucono-delta-lactone 79.6 1 14664539 (1)
    sodium caseinate 71.9 6 19505156 (3)
    allergens 47.1 4 18307527 (1), 10594547 (1), 11529896 (1)
    peptone 36.5 1 12018413 (1)
    polyacrylamide 34.5 1 15545371 (1)
    lactose 33.4 2 15591397 (1)
    hydroxyapatite 31.8 3 10601790 (2), 7717888 (1)
    sodium dodecylsulfate 28 4 15545361 (1), 18155889 (1)

    Search CenterWatch for drugs/clinical trials and news about CSN3 / CASK 

    Transcripts
    for CSN3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CSN3 gene: 
    NM_005212.2  

    Unigene Cluster for CSN3:

    Casein kappa
    Hs.54415  [show with all ESTs]
    Unigene Representative Sequence: BF667812
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000304954(uc003hfe.4)

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CSN3:
    hsa-miR-3136-5p hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmid: CSN3 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    BC010935.1 X66417.1 

    2 DOTS entries:

    DT.103940  DT.121249472 

    12 AceView cDNA sequences:

    BG199886 BG191674 BG204492 H25114 BC010935 NM_005212 BG217189 M73628 
    BX283897 X66417 BF667812 BG210286 

    GeneLoc Exon Structure


    Expression
    for CSN3 gene

    (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

    CSN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCACATTCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CSN3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CSN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CSN3

    SOURCE GeneReport for Unigene cluster: Hs.54415

    UniProtKB/Swiss-Prot: CASK_HUMAN, P07498
    Tissue specificity: Mammary gland specific. Secreted in milk

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    In Situ
    Assay Products:     
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    Orthologs
    for CSN3 gene

    (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 human and mouse.

    Orthologs for CSN3 gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Csn31 , 5 casein kappa1, 5 61.82(n)1
    38.55(a)1    		   5 (43.56 cM)5
    129941  NM_007786.41  NP_031812.21 
     879255795 


    ENSEMBL Gene Tree for CSN3 (if available)
    TreeFam Gene Tree for CSN3 (if available) 

    Paralogs
    for CSN3 gene

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

    Genomic Variants
    for CSN3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CSN3
         1 CNV: 4399
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CSN3

    Disorders / Diseases
    for CSN3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CSN3 for disorders           About GeneDecksing

    OMIM gene information: 601695    OMIM disorders: --

    15 diseases for CSN3:    About MalaCards
    mammary paget's disease    food allergy    dentin sensitivity    eosinophilic gastroenteritis
    haemophilus influenzae    atopic dermatitis    dermatitis    mastitis
    thrombosis    gastroenteritis    influenza    breast disease
    pneumonia    adenocarcinoma    carcinoma

    1 disease from the University of Copenhagen DISEASES database for CSN3:
    Hypersensitivity reaction type I disease

    8 Novoseek disease relationships for CSN3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    allergy milk 82.8 1 12170271 (1)
    allergy food 39 1 9316283 (1)
    allergy 27.4 2 12170271 (2)
    dermatitis atopic 17 4 17106206 (2), 9316283 (1)
    tumors 0.6 2 7970700 (1)
    autoimmune diseases 0 1 1724453 (1)
    thrombosis 0 2 11242453 (2)
    carcinoma 0 2 7680194 (1), 8450194 (1)

    Human Genome Epidemiology (HuGE) Navigator: CSN3 (1 document)

    Export disorders for CSN3 gene to outside databases

    Publications
    for CSN3 gene

    (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 CSN3 gene, integrated from 9 sources (see all 182):
    (articles sorted by number of sources associating them with CSN3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human kappa-casein gene. (PubMed id 8863730)1, 2, 3 Edlund A.... Hansson L. (1996)
    2. Structural features of a peptide corresponding to human kappa-casein residues 84-101 by 1H-nuclear magnetic resonance spectroscopy. (PubMed id 10191473)1, 2, 9 Plowman J.E.... Cross J.J. (1999)
    3. Cloning and sequencing of human kappa-casein cDNA. (PubMed id 1296818)1, 2, 9 Bergstroem S....Stroemqvist M. (1992)
    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. (2004)
    5. Genomic organization and chromosomal localization of the human casein gene family. (PubMed id 9050925)1, 3 Fujiwara Y....Ueda M. (1997)
    6. Preparation and amino acid sequence of human kappa-casein. (PubMed id 4018271)1, 2 Brignon G.... Ribadeau-Dumas B. (1985)
    7. Localisation and importance of the sugar part of human casein. (PubMed id 7460900)1, 2 Fiat A.M.... Jolles P. (1980)
    8. Suspension of the calcium-sensitive human beta-caseins by human kappa-casein. (PubMed id 12146463)1, 9 Sood S.M. and Slatter C.W. (2002)
    9. Rare variants in ischemic stroke: an exome pilot study . (PubMed id 22536414)1 Cole J.W....O'Connell J.R. (2012)
    10. Protein microarray analysis identifies human cellular prion protein interactors. (PubMed id 18482256)1 Satoh J....Tabunoki H. (2009)

    External Searches for CSN3 gene

    (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)

    Genome Databases showing CSN3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1448 HGNC: 2446 AceView: CSN3 Ensembl:ENSG00000171209 euGenes: HUgn1448
    ECgene: CSN3 H-InvDB: CSN3

    Other Databases showing CSN3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CSN3 gene

    (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 CSN3 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt016.shtml

    Intellectual Property
    for CSN3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CSN3 gene:
    Search GeneIP for patents involving CSN3

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



    Products
    for CSN3 gene

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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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