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Aliases for CSN2 Gene

Aliases for CSN2 Gene

  • Casein Beta 2 3 5
  • CASB 3 4

External Ids for CSN2 Gene

Previous HGNC Symbols for CSN2 Gene

  • CASB

Previous GeneCards Identifiers for CSN2 Gene

  • GC04M070731
  • GC04M070869
  • GC04M071070
  • GC04M071136
  • GC04M071001
  • GC04M066618

Summaries for CSN2 Gene

Entrez Gene Summary for CSN2 Gene

  • This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for CSN2 Gene

CSN2 (Casein Beta) is a Protein Coding gene. Diseases associated with CSN2 include Mastitis and Cow Milk Allergy. Among its related pathways are Prolactin Signaling Pathway and Signaling events mediated by PTP1B. GO annotations related to this gene include calcium ion binding and enzyme inhibitor activity.

UniProtKB/Swiss-Prot for CSN2 Gene

  • Important role in determination of the surface properties of the casein micelles.

Gene Wiki entry for CSN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSN2 Gene

Genomics for CSN2 Gene

Regulatory Elements for CSN2 Gene


Genomic Location for CSN2 Gene

Chromosome:
4
Start:
69,955,256 bp from pter
End:
69,993,629 bp from pter
Size:
38,374 bases
Orientation:
Minus strand

Genomic View for CSN2 Gene

Genes around CSN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSN2 Gene

Proteins for CSN2 Gene

  • Protein details for CSN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05814-CASB_HUMAN
    Recommended name:
    Beta-casein
    Protein Accession:
    P05814
    Secondary Accessions:
    • Q4VAZ9
    • Q9UCM5

    Protein attributes for CSN2 Gene

    Size:
    226 amino acids
    Molecular mass:
    25382 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CSN2 Gene

Proteomics data for CSN2 Gene at MOPED

Post-translational modifications for CSN2 Gene

  • Form 1-P is phosphorylated once; half of the molecules are phosphorylated on Ser-24, half on Ser-25.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CSN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CSN2 Gene

Domains & Families for CSN2 Gene

Protein Domains for CSN2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CSN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05814

UniProtKB/Swiss-Prot:

CASB_HUMAN :
  • Belongs to the beta-casein family.
Family:
  • Belongs to the beta-casein family.
genes like me logo Genes that share domains with CSN2: view

No data available for Gene Families for CSN2 Gene

Function for CSN2 Gene

Molecular function for CSN2 Gene

GENATLAS Biochemistry:
casein,beta
UniProtKB/Swiss-Prot Function:
Important role in determination of the surface properties of the casein micelles.

Gene Ontology (GO) - Molecular Function for CSN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding TAS 2387396
genes like me logo Genes that share ontologies with CSN2: view
genes like me logo Genes that share phenotypes with CSN2: view

Animal Models for CSN2 Gene

MGI Knock Outs for CSN2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CSN2 Gene

Localization for CSN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSN2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSN2 Gene COMPARTMENTS Subcellular localization image for CSN2 gene
Compartment Confidence
extracellular 5
nucleus 2
chloroplast 1
cytoskeleton 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CSN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
genes like me logo Genes that share ontologies with CSN2: view

Pathways & Interactions for CSN2 Gene

genes like me logo Genes that share pathways with CSN2: view

Pathways by source for CSN2 Gene

1 GeneGo (Thomson Reuters) pathway for CSN2 Gene
1 Qiagen pathway for CSN2 Gene

Gene Ontology (GO) - Biological Process for CSN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043086 negative regulation of catalytic activity TAS 2387396
GO:1903488 negative regulation of lactation IBA --
genes like me logo Genes that share ontologies with CSN2: view

No data available for SIGNOR curated interactions for CSN2 Gene

Drugs & Compounds for CSN2 Gene

(16) Drugs for CSN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(39) Additional Compounds for CSN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CSN2: view

Transcripts for CSN2 Gene

mRNA/cDNA for CSN2 Gene

(3) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CSN2 Gene

Casein beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CSN2 Gene

No ASD Table

Relevant External Links for CSN2 Gene

GeneLoc Exon Structure for
CSN2
ECgene alternative splicing isoforms for
CSN2

Expression for CSN2 Gene

mRNA expression in normal human tissues for CSN2 Gene

mRNA differential expression in normal tissues according to GTEx for CSN2 Gene

This gene is overexpressed in Breast - Mammary Tissue (x52.1).

Protein differential expression in normal tissues from HIPED for CSN2 Gene

This gene is overexpressed in Milk (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CSN2 Gene



SOURCE GeneReport for Unigene cluster for CSN2 Gene Hs.2242

mRNA Expression by UniProt/SwissProt for CSN2 Gene

P05814-CASB_HUMAN
Tissue specificity: Mammary gland specific. Secreted in milk.
genes like me logo Genes that share expression patterns with CSN2: view

Protein tissue co-expression partners for CSN2 Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CSN2 Gene

Orthologs for CSN2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CSN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CSN2 35
  • 71.9 (n)
  • 54.9 (a)
CSN2 36
  • 56 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSN2 35
  • 79.87 (n)
  • 66.18 (a)
CSN2 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csn2 35
  • 66.67 (n)
  • 49.19 (a)
Csn2 16
Csn2 36
  • 46 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CSN2 35
  • 99.41 (n)
  • 98.67 (a)
CSN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csn2 35
  • 64.64 (n)
  • 44.2 (a)
Species with no ortholog for CSN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CSN2 Gene

ENSEMBL:
Gene Tree for CSN2 (if available)
TreeFam:
Gene Tree for CSN2 (if available)

Paralogs for CSN2 Gene

No data available for Paralogs for CSN2 Gene

Variants for CSN2 Gene

Sequence variations from dbSNP and Humsavar for CSN2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs812348 -- 69,968,723(-) TCTCC(A/G)CCATC intron-variant
rs976410 -- 69,971,759(-) GGAAT(G/T)AAAAC intron-variant
rs1126865 -- 69,960,065(-) AGCCT(C/G/T)TCAAG reference, synonymous-codon
rs923679 -- 69,967,969(-) CATTA(A/C)TTTAC intron-variant
rs926057 -- 69,968,148(-) AGAAC(G/T)CCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CSN2 Gene

Variant ID Type Subtype PubMed ID
nsv879455 CNV Loss 21882294
dgv5628n71 CNV Loss 21882294
dgv5629n71 CNV Loss 21882294
nsv879460 CNV Gain 21882294

Variation tolerance for CSN2 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.33% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CSN2 Gene

Disorders for CSN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CSN2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mastitis
  • breast inflammation
cow milk allergy
  • bos taurus milk allergy
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- elite association - COSMIC cancer census association via MalaCards
Search CSN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CSN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSN2
genes like me logo Genes that share disorders with CSN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSN2 Gene

Publications for CSN2 Gene

  1. Regional localization of human beta-casein gene (CSN2) to 4pter-q21. (PMID: 1577486) Menon R.S. … Ham R.G. (Genomics 1992) 2 3 23 67
  2. Derivatives of human beta-casein fragments (54-59) exhibit highly potent immunosuppressant activity. (PMID: 19463972) Puri A. … Haq W. (Int. Immunopharmacol. 2009) 3 23
  3. New functions of lactoferrin and beta-casein in mammalian milk as cysteine protease inhibitors. (PMID: 12788072) Ohashi A. … Katunuma N. (Biochem. Biophys. Res. Commun. 2003) 3 23
  4. Assignment of the gene for beta-casein (CSN2) to 4q13 --> q21 in humans and 3p13 --> p12 in chimpanzees. (PMID: 8565637) McConkey E.H. … Sutherland G.R. (Cytogenet. Cell Genet. 1996) 3 23
  5. Kappa-casein and beta-caseins in human milk micelles: structural studies. (PMID: 7979373) Dev B.C. … Slattery C.W. (Arch. Biochem. Biophys. 1994) 3 23

Products for CSN2 Gene

Sources for CSN2 Gene

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