Details for: CSN2

Gene ID: 1447

Symbol: CSN2

Ensembl ID: ENSG00000135222

Description: casein beta

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.65
    Marker Score: 8227
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 6.55
    Marker Score: 3626
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 4.14
    Marker Score: 2351
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.73
    Marker Score: 6793
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.46
    Marker Score: 2477
  • Cell Name: T cell (CL0000084)
    Fold Change: 2.26
    Marker Score: 3903
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.99
    Marker Score: 2225
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.28
    Marker Score: 1215
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.24
    Marker Score: 391.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7692
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.09
    Marker Score: 396.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.08
    Marker Score: 570
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.07
    Marker Score: 396.5
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 1
    Marker Score: 6447
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 0.99
    Marker Score: 71451.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47685
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.99
    Marker Score: 397.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5342
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.91
    Marker Score: 1475
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.86
    Marker Score: 501
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.79
    Marker Score: 723
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 405
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.75
    Marker Score: 1203
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.74
    Marker Score: 389.5
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.73
    Marker Score: 705
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.69
    Marker Score: 551
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.65
    Marker Score: 394.5
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.63
    Marker Score: 819.5
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.63
    Marker Score: 264
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.63
    Marker Score: 293.5
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.63
    Marker Score: 390
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.62
    Marker Score: 335.5
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.59
    Marker Score: 392.5
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.59
    Marker Score: 390
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.58
    Marker Score: 392
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.52
    Marker Score: 398
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.48
    Marker Score: 286
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.45
    Marker Score: 345.5
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.45
    Marker Score: 398.5
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.43
    Marker Score: 389
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.41
    Marker Score: 398.5
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.4
    Marker Score: 396.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.39
    Marker Score: 391.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.35
    Marker Score: 373
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.35
    Marker Score: 388
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.34
    Marker Score: 398.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.33
    Marker Score: 386
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.33
    Marker Score: 217.5
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.33
    Marker Score: 578
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.28
    Marker Score: 393.5
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.28
    Marker Score: 397.5
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.25
    Marker Score: 339.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.24
    Marker Score: 545
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.24
    Marker Score: 386.5
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.24
    Marker Score: 398.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.23
    Marker Score: 386.5
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.22
    Marker Score: 399
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.2
    Marker Score: 398.5
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.18
    Marker Score: 545
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.17
    Marker Score: 398.5
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.16
    Marker Score: 261.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.16
    Marker Score: 374
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.15
    Marker Score: 316
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.14
    Marker Score: 365
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.13
    Marker Score: 355.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.12
    Marker Score: 421
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.12
    Marker Score: 481
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1
    Marker Score: 398.5
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1
    Marker Score: 398.5
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.08
    Marker Score: 398.5
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.08
    Marker Score: 397.5
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.07
    Marker Score: 697
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.04
    Marker Score: 398.5
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.03
    Marker Score: 401
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.02
    Marker Score: 398.5
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.02
    Marker Score: 339.5
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.02
    Marker Score: 396.5
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.01
    Marker Score: 396.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.01
    Marker Score: 392.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.01
    Marker Score: 397.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.01
    Marker Score: 394.5
  • Cell Name: mural cell (CL0008034)
    Fold Change: 0
    Marker Score: 398.5

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Other Information

**Key characteristics:** * Beta-casein is a large protein (145 kDa) that is found in the cytoplasm of cells. * It is a calcium-binding protein, which means that it binds to calcium ions and undergoes conformational changes in response to changes in calcium concentration. * Beta-casein is a key regulator of calcium signaling, and its expression is often associated with cell growth, differentiation, and apoptosis. * It is also involved in the regulation of inflammation and cell migration. **Pathways and functions:** * Beta-casein is a key regulator of calcium signaling. It is expressed in many tissues in the body, including oligodendrocyte precursor cells, erythrocytes, megakaryocytes, microglial cells, blood vessel endothelial cells, T cells, plasma cells, B cells, and renal beta-intercalated cells. * In the resting state, beta-casein is bound to calcium ions and is inactive. * When calcium ions bind to beta-casein, it undergoes a conformational change that exposes a hydrophobic pocket that can bind to the calcium ion. This binding activates beta-casein, which then acts as a chaperone for other calcium-dependent proteins. * Activated beta-casein can also bind to a number of other proteins, including MAPKAPK, MAPKK, and PDK1. This binding can activate these proteins, which can then regulate cell growth, differentiation, and apoptosis. **Clinical significance:** * Mutations in the CSN2 gene have been linked to a number of human diseases, including cerebral palsy, epilepsy, and cancer. * In one study, mutations in the CSN2 gene were found to be associated with an increased risk of stroke in people over the age of 65. * Another study found that mutations in the CSN2 gene were associated with an increased risk of multiple sclerosis in people under the age of 40. **Conclusion:** Beta-casein is a key regulator of calcium signaling, and its expression is often associated with cell growth, differentiation, and apoptosis. Mutations in the CSN2 gene have been linked to a number of human diseases, including cerebral palsy, epilepsy, and cancer.

Genular Protein ID: 613173947

Symbol: CASB_HUMAN

Name: Beta-casein

UniProtKB Accession Codes:

P05814 Q4VAZ9 Q9UCM5

Database IDs:

AGR 1 Allergome 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 3 SMR 1 STRING 1 SignaLink 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2387396

Title: Cloning and sequencing of a cDNA encoding human milk beta-casein.

PubMed ID: 2387396

DOI: 10.1016/0014-5793(90)81142-b

PubMed ID: 8112603

Title: Structure of the human beta-casein encoding gene.

PubMed ID: 8112603

DOI: 10.1016/0378-1119(94)90754-4

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6715339

Title: Human beta-casein. Amino acid sequence and identification of phosphorylation sites.

PubMed ID: 6715339

DOI: 10.1016/s0021-9258(17)42966-8

PubMed ID: 18847231

Title: Analysis of the human casein phosphoproteome by 2-D electrophoresis and MALDI-TOF/TOF MS reveals new phosphoforms.

PubMed ID: 18847231

DOI: 10.1021/pr800387s

PubMed ID: 2717418

Title: Human beta-casein: partial cDNA sequence and apparent polymorphism.

PubMed ID: 2717418

DOI: 10.1093/nar/17.7.2869

PubMed ID: 1369431

Title: Plasmin cleavage of human beta-casein.

PubMed ID: 1369431

DOI: 10.1271/bbb.56.1140

Sequence Information:

  • Length: 226
  • Mass: 25382
  • Checksum: 2619C524EA1358E8
  • Sequence:
    • MKVLILACLV ALALARETIE SLSSSEESIT EYKQKVEKVK HEDQQQGEDE HQDKIYPSFQ 
PQPLIYPFVE PIPYGFLPQN ILPLAQPAVV LPVPQPEIME VPKAKDTVYT KGRVMPVLKS 
PTIPFFDPQI PKLTDLENLH LPLPLLQPLM QQVPQPIPQT LALPPQPLWS VPQPKVLPIP 
QQVVPYPQRA VPVQALLLNQ ELLLNPTHQI YPVTQPLAPV HNPISV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.