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    Csn2 casein beta [ Mus musculus (house mouse) ]

    Gene ID: 12991, updated on 17-Dec-2024

    Summary

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    Official Symbol
    Csn2provided by MGI
    Official Full Name
    casein betaprovided by MGI
    Primary source
    MGI:MGI:88541
    See related
    Ensembl:ENSMUSG00000063157 AllianceGenome:MGI:88541
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Csnb
    Summary
    Predicted to enable cysteine-type endopeptidase inhibitor activity. Predicted to be involved in lactation and negative regulation of cysteine-type endopeptidase activity. Located in extracellular region. Is expressed in mammary gland. Orthologous to human CSN2 (casein beta). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward thymus adult (RPKM 9.8) See more
    Orthologs
    human all
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    Genomic context

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    See Csn2 in Genome Data Viewer
    Location:
    5 E1; 5 43.56 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (87840478..87847288, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (87692619..87699429, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene pleckstrin and Sec7 domain containing 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_13561 Neighboring gene casein alpha s1 Neighboring gene STARR-seq mESC enhancer starr_13562 Neighboring gene predicted gene, 25066 Neighboring gene predicted gene, 24314

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Developmental regulation of the ovine beta-lactoglobulin/human serum albumin transgene is distinct from that of the beta-lactoglobulin and the endogenous beta-casein genes in the mammary gland of transgenic mice. Baruch A, et al. Dev Genet, 1995. PMID 7796533
    2. The liver-enriched inhibitory protein isoform of CCAAT/enhancer-binding protein beta, but not nuclear factor-kappaB, mediates the transcriptional inhibition of beta-casein by tumor necrosis factor-alpha. Zhang H, et al. Endocrinology, 2004 Jun. PMID 14976147
    3. The first intron of the murine beta-casein gene contains a functional promoter. Kolb A. Biochem Biophys Res Commun, 2003 Jul 11. PMID 12821156
    4. Trichostatin A inhibits beta-casein expression in mammary epithelial cells. Pujuguet P, et al. J Cell Biochem, 2001. PMID 11746508, Free PMC Article
    5. Mammary gland tumor in transgenic mice expressing targeted beta-casein/HPV16E6 fusion gene. Hwang DY, et al. Int J Oncol, 2000 Dec. PMID 11078793

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results indicate that PRL, EGF and glucocorticoids have distinct roles in the establishment of beta-casein secretion pathway.
      Title: Distinct roles of prolactin, epidermal growth factor, and glucocorticoids in β-casein secretion pathway in lactating mammary epithelial cells.
    2. Dexamethasone signaling upregulates Claudin-3 and -4 without beta-casein expression. Prolactin and dexamethasone signaling synergistically upregulate beta-casein expression.
      Title: Prolactin and glucocorticoid signaling induces lactation-specific tight junctions concurrent with β-casein expression in mammary epithelial cells.
    3. octamer-binding transcription factor-1 may serve as a master regulator that facilitates the DNA binding of both signal transducer and activator of transcription 5 and glucocorticoid receptor in hormone-induced beta-casein expression
      Title: Interactions of the ubiquitous octamer-binding transcription factor-1 with both the signal transducer and activator of transcription 5 and the glucocorticoid receptor mediate prolactin and glucocorticoid-induced β-casein gene expression in mammary epithelial cells.
    4. It was found that both IGF-1 and IGF-2 activate the expression of milk protein beta-casein in the presence of prolactin and hydrocortisone. It was found that beta-casein expression is accompanied by cyclin D1 coexpression.
      Title: Insulin-like growth factors 1 and 2 regulate expression of β-casein in vitro in mouse mammary epithelial cells.
    5. mammary cells express beta-casein in response to prolactin in a pathway that involves gap junction intracellular communication and OCT-1 and is independent of STAT5 nuclear translocation
      Title: Gap junctions mediate STAT5-independent β-casein expression in CID-9 mammary epithelial cells.
    6. Progesterone receptor directly inhibits beta-casein gene transcription in mammary epithelial cells through promoting promoter and enhancer repressive chromatin modifications
      Title: Progesterone receptor directly inhibits β-casein gene transcription in mammary epithelial cells through promoting promoter and enhancer repressive chromatin modifications.
    7. Our data thus suggest that the degradation of beta-casein occurs via the microautophagic pathway.
      Title: Oleate and linoleate stimulate degradation of β-casein in prolactin-treated HC11 mouse mammary epithelial cells.
    8. the interaction of glucocorticoid receptor with Oct-1 on the beta-casein gene promoter
      Title: Oct-1 functions as a transactivator in the hormonal induction of beta-casein gene expression.
    9. The developmental regulation of DNA looping between the beta-casein regulatory regions was observed in lactating but not in virgin mouse mammary glands.
      Title: Lactogenic hormonal induction of long distance interactions between beta-casein gene regulatory elements.
    10. These results demonstrate that TGF-beta abrogates prolactin-stimulated beta-casein gene expression in mammary epithelial cells through, at least in part, a Smad3-dependent mechanism.
      Title: TGF-beta inhibits prolactin-induced expression of beta-casein by a Smad3-dependent mechanism.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in lactation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    beta-casein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286020.1 → NP_001272949.1  beta-casein isoform b precursor

      See identical proteins and their annotated locations for NP_001272949.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AC074046, AK085698
      Consensus CDS
      CCDS80317.1
      UniProtKB/TrEMBL
      Q3TP33, Q8BGL0
      Related
      ENSMUSP00000080976.7, ENSMUST00000082370.10
      Conserved Domains (1) summary
      pfam00363
      Location:143 → 218
      Casein; Casein

    2. NM_001286021.1 → NP_001272950.1  beta-casein isoform b precursor

      See identical proteins and their annotated locations for NP_001272950.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AC074046, AK085698
      Consensus CDS
      CCDS80317.1
      UniProtKB/TrEMBL
      Q3TP33, Q8BGL0
      Related
      ENSMUSP00000143709.2, ENSMUST00000198057.5
      Conserved Domains (1) summary
      pfam00363
      Location:143 → 218
      Casein; Casein

    3. NM_001286022.1 → NP_001272951.1  beta-casein isoform c precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC074046, AK085698
      UniProtKB/TrEMBL
      A0A0G2JE86
      Related
      ENSMUSP00000142673.2, ENSMUST00000196163.2
      Conserved Domains (1) summary
      pfam00363
      Location:135 → 210
      Casein; Casein

    4. NM_001286023.1 → NP_001272952.1  beta-casein isoform d precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (d) that is shorter than isoform a.
      Source sequence(s)
      AC074046, AK052805
      UniProtKB/TrEMBL
      A0A0G2JE86
      Conserved Domains (1) summary
      pfam00363
      Location:129 → 204
      Casein; Casein

    5. NM_001286024.1 → NP_001272953.1  beta-casein isoform e precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate in-frame exons in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AC074046, AK085698
      Consensus CDS
      CCDS80315.1
      UniProtKB/TrEMBL
      A0A0G2JE86, A0A0G2JF04
      Related
      ENSMUSP00000142971.2, ENSMUST00000196869.5
      Conserved Domains (1) summary
      pfam00363
      Location:128 → 203
      Casein; Casein

    6. NM_009972.2 → NP_034102.1  beta-casein isoform a precursor

      See identical proteins and their annotated locations for NP_034102.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC074046, AK052805
      Consensus CDS
      CCDS39131.1
      UniProtKB/Swiss-Prot
      P10598, Q543D9, Q8VCT6, Q8VCU8, Q91VI5, Q922Y5, Q9D1U6, Q9D1U7
      UniProtKB/TrEMBL
      Q3TP33
      Related
      ENSMUSP00000143341.2, ENSMUST00000197422.5
      Conserved Domains (1) summary
      pfam00363
      Location:144 → 219
      Casein; Casein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      87840478..87847288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_389259.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10598.1 GenPept UniProtKB/Swiss-Prot:P10598

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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