Human Gene CSN2 (uc003hes.4)
  Description: Homo sapiens casein beta (CSN2), mRNA.
RefSeq Summary (NM_001891): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:70,820,974-70,826,726 Size: 5,753 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr4:70,822,068-70,826,713 Size: 4,646 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:70,820,974-70,826,726)mRNA (may differ from genome)Protein (226 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CASB_HUMAN
DESCRIPTION: RecName: Full=Beta-casein; Flags: Precursor;
FUNCTION: Important role in determination of the surface properties of the casein micelles.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Mammary gland specific. Secreted in milk.
PTM: Form 1-P is phosphorylated once; half of the molecules are phosphorylated on Ser-24, half on Ser-25.
SIMILARITY: Belongs to the beta-casein family.
WEB RESOURCE: Name=Protein Spotlight; Note=Of buttons, digestion and glue - Issue 16 of November 2001; URL="http://web.expasy.org/spotlight/back_issues/sptlt016.shtml";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CSN2
Diseases sorted by gene-association score: milk allergy (7), mastitis (4), breast cancer (2), diabetes mellitus, insulin-dependent (1), lipid-rich carcinoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.22 RPKM in Minor Salivary Gland
Total median expression: 0.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -69.25373-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001588 - Casein
IPR016345 - Casein_beta

Pfam Domains:
PF00363 - Casein

ModBase Predicted Comparative 3D Structure on P05814
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004857 enzyme inhibitor activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0005509 calcium ion binding

Biological Process:
GO:0006816 calcium ion transport
GO:0007595 lactation
GO:1903488 negative regulation of lactation
GO:2000117 negative regulation of cysteine-type endopeptidase activity

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  A30262 - H.sapiens beta-casein cDNA.
X55739 - Homo sapiens mRNA for beta-casein.
X13766 - Human beta-casein mRNA 3'-terminal fragment.
X17070 - Human mRNA for beta-casein.
JD562817 - Sequence 543841 from Patent EP1572962.
BC096194 - Homo sapiens casein beta, mRNA (cDNA clone MGC:116846 IMAGE:40004178), complete cds.
BC096196 - Homo sapiens casein beta, mRNA (cDNA clone MGC:116848 IMAGE:40004180), complete cds.
BC096197 - Homo sapiens casein beta, mRNA (cDNA clone MGC:116849 IMAGE:40004181), complete cds.
BC069554 - Homo sapiens casein beta, mRNA (cDNA clone MGC:96987 IMAGE:7262196), complete cds.
BC096195 - Homo sapiens casein beta, mRNA (cDNA clone MGC:116847 IMAGE:40004179), complete cds.
JD551026 - Sequence 532050 from Patent EP1572962.
KF751868 - Homo sapiens casein beta mRNA, complete cds.
KJ890983 - Synthetic construct Homo sapiens clone ccsbBroadEn_00377 CSN2 gene, encodes complete protein.
JD204304 - Sequence 185328 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P05814 (Reactome details) participates in the following event(s):

R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-1236394 Signaling by ERBB4
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: CASB, CASB_HUMAN, NM_001891, NP_001882, P05814, Q4VAZ9, Q9UCM5
UCSC ID: uc003hes.4
RefSeq Accession: NM_001891
Protein: P05814 (aka CASB_HUMAN)
CCDS: CCDS3532.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001891.2
exon count: 7CDS single in 3' UTR: no RNA size: 1078
ORF size: 681CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1562.00frame shift in genome: no % Coverage: 98.98
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.