CSN2

Protein-coding gene in the species Homo sapiens
CSN2
Identifiers
AliasesCSN2, CASB, casein beta, PDC213
External IDsOMIM: 115460; MGI: 88541; HomoloGene: 1426; GeneCards: CSN2; OMA:CSN2 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for CSN2
Genomic location for CSN2
Band4q13.3Start69,955,256 bp[1]
End69,965,728 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for CSN2
Genomic location for CSN2
Band5 E1|5 43.56 cMStart87,840,483 bp[2]
End87,847,489 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • tonsil

  • salivary gland

  • minor salivary glands

  • olfactory zone of nasal mucosa

  • islet of Langerhans

  • smooth muscle tissue

  • placenta

  • urinary bladder

  • skeletal muscle
Top expressed in
  • lactiferous gland

  • parotid gland

  • muscle of thigh

  • thymus

  • mesenteric lymph nodes

  • belly cord

  • tibiofemoral joint

  • dorsal striatum

  • choroid plexus of fourth ventricle

  • sexually immature organism
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
  • enzyme inhibitor activity
  • transporter activity
  • cysteine-type endopeptidase inhibitor activity
Cellular component
  • extracellular region
  • extracellular space
Biological process
  • negative regulation of lactation
  • lactation
  • calcium ion transport
  • negative regulation of cysteine-type endopeptidase activity
  • transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1447

12991

Ensembl

ENSG00000135222
ENSG00000283030

ENSMUSG00000063157

UniProt

P05814

P10598

RefSeq (mRNA)

NM_001302770
NM_001891
NM_001385731

NM_001286020
NM_001286021
NM_001286022
NM_001286023
NM_001286024

NM_009972

RefSeq (protein)

NP_001289699
NP_001882

NP_001272949
NP_001272950
NP_001272951
NP_001272952
NP_001272953

NP_034102

Location (UCSC)Chr 4: 69.96 – 69.97 MbChr 5: 87.84 – 87.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Beta-casein is a protein that in humans is encoded by the CSN2 gene.[5][6] It is in the class of phosphoproteins and generally occurs in mammalian milk.


References

  1. ^ a b c ENSG00000283030 GRCh38: Ensembl release 89: ENSG00000135222, ENSG00000283030 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063157 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Menon RS, Chang YF, Jeffers KF, Jones C, Ham RG (Jun 1992). "Regional localization of human beta-casein gene (CSN2) to 4pter-q21". Genomics. 13 (1): 225–6. doi:10.1016/0888-7543(92)90227-J. PMID 1577486.
  6. ^ "Entrez Gene: CSN2 casein beta".

Further reading

  • Letwin K, Mizzen L, Motro B, et al. (1992). "A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells". EMBO J. 11 (10): 3521–31. doi:10.1002/j.1460-2075.1992.tb05435.x. PMC 556810. PMID 1382974.
  • Lönnerdal B, Bergström S, Andersson Y, et al. (1990). "Cloning and sequencing of a cDNA encoding human milk beta-casein". FEBS Lett. 269 (1): 153–6. doi:10.1016/0014-5793(90)81142-B. PMID 2387396. S2CID 84999340.
  • Menon RS, Ham RG (1989). "Human beta-casein: partial cDNA sequence and apparent polymorphism". Nucleic Acids Res. 17 (7): 2869. doi:10.1093/nar/17.7.2869. PMC 317677. PMID 2717418.
  • Greenberg R, Groves ML, Dower HJ (1984). "Human beta-casein. Amino acid sequence and identification of phosphorylation sites". J. Biol. Chem. 259 (8): 5132–8. doi:10.1016/S0021-9258(17)42966-8. PMID 6715339.
  • Chen CS, Bejcek BE, Kersey JH (1995). "A mapping study of 13 genes on human chromosome bands 4q11→q25". Cytogenet. Cell Genet. 69 (3–4): 260–5. doi:10.1159/000133976. PMID 7698025.
  • Hansson L, Edlund A, Johansson T, et al. (1994). "Structure of the human beta-casein encoding gene". Gene. 139 (2): 193–9. doi:10.1016/0378-1119(94)90754-4. PMID 8112603.
  • McConkey EH, Menon R, Williams G, et al. (1996). "Assignment of the gene for beta-casein (CSN2) to 4q13 → q21 in humans and 3p13 → p12 in chimpanzees". Cytogenet. Cell Genet. 72 (1): 60–2. doi:10.1159/000134163. PMID 8565637.
  • Wilmouth RC, Clifton IJ, Robinson CV, et al. (1997). "Structure of a specific acyl-enzyme complex formed between beta-casomorphin-7 and porcine pancreatic elastase". Nat. Struct. Biol. 4 (6): 456–62. doi:10.1038/nsb0697-456. PMID 9187653. S2CID 46268643.
  • Winklehner-Jennewein P, Geymayer S, Lechner J, et al. (1998). "A distal enhancer region in the human beta-casein gene mediates the response to prolactin and glucocorticoid hormones". Gene. 217 (1–2): 127–39. doi:10.1016/S0378-1119(98)00380-1. PMID 9795185.
  • Gray CW, Ward RV, Karran E, et al. (2000). "Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response". Eur. J. Biochem. 267 (18): 5699–710. doi:10.1046/j.1432-1327.2000.01589.x. PMID 10971580.
  • Sood SM, Slatter CW (2003). "Suspension of the calcium-sensitive human beta-caseins by human kappa-casein". J. Dairy Sci. 85 (6): 1353–6. doi:10.3168/jds.S0022-0302(02)74200-8. PMID 12146463.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ohashi A, Murata E, Yamamoto K, et al. (2003). "New functions of lactoferrin and beta-casein in mammalian milk as cysteine protease inhibitors". Biochem. Biophys. Res. Commun. 306 (1): 98–103. doi:10.1016/S0006-291X(03)00917-3. PMID 12788072.
  • Reimer T, Weiwad M, Schierhorn A, et al. (2003). "Phosphorylation of the N-terminal domain regulates subcellular localization and DNA binding properties of the peptidyl-prolyl cis/trans isomerase hPar14". J. Mol. Biol. 330 (5): 955–66. doi:10.1016/S0022-2836(03)00713-7. PMID 12860119.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Miller SL, DeMaria JE, Freier DO, et al. (2005). "Novel association of Vav2 and Nek3 modulates signaling through the human prolactin receptor". Mol. Endocrinol. 19 (4): 939–49. doi:10.1210/me.2004-0443. PMID 15618286.
  • Sood SM, Lekic T, Jhawar H, et al. (2007). "Reconstituted micelle formation using reduced, carboxymethylated bovine kappa-casein and human beta-casein". Protein J. 25 (5): 352–60. doi:10.1007/s10930-006-9022-7. PMID 16947075. S2CID 84941322.
  • Buser AC, Gass-Handel EK, Wyszomierski SL, et al. (2007). "Progesterone receptor repression of prolactin/signal transducer and activator of transcription 5-mediated transcription of the beta-casein gene in mammary epithelial cells". Mol. Endocrinol. 21 (1): 106–25. doi:10.1210/me.2006-0297. PMID 16973758.


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