CSN2 casein beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSN2provided by HGNC
Official Full Name: casein betaprovided by HGNC
Primary source: HGNC:HGNC:2447
See related: Ensembl:ENSG00000135222 MIM:115460; AllianceGenome:HGNC:2447
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CASB; PDC213
Summary: 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. In addition, the C-terminal 14 aa of the protein has antimicrobial activity, especially in preterm milk, displaying antibacterial activity against S. aureus and Y. enterocolitica. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (69955256..69965728, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (73290050..73300523, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (70820974..70831446, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The PDC213 peptide derived from CSN2 displays antimicrobial activity against S. aureus and Y. enterocolitica.
Title: Antimicrobial activity and mechanism of PDC213, an endogenous peptide from human milk.
Data suggest that neurogenesis in neuronal stem cells is differentially affected by human and bovine beta-casein-derived opioid peptides BCM7 and BCM9; such neurogenic changes are accompanied by changes in glutathione/glutathione disulfide ratio and in S-adenosylmethionine/S-adenosylhomocysteine ratio, indicative of changes in redox and methylation states (including DNA methylation).
Title: Differential neurogenic effects of casein-derived opioid peptides on neuronal stem cells: implications for redox-based epigenetic changes.
Exogenous 5-HT decreased beta-casein expression in MCF-12A human mammary epithelial cells and was responsible for inhibiting phosphorylation of STAT5, resulting in a decline in lactational function.
Title: Serotonin suppresses β-casein expression via inhibition of the signal transducer and activator of transcription 5 (STAT5) protein phosphorylation in human mammary epithelial cells MCF-12A.
The acidic fragment of human Abeta (Abeta1-11) and a phosphorylated fragment of beta-Casein induced tau fibrillization in vitro.
Title: The role of anionic peptide fragments in 1N4R human tau protein aggregation.
Milk congestion gives rise to higher levels of beta-casomorphin-8 in milk and plasma than in lactating women without problems.
Title: Enhanced levels of immunoreactive β-casomorphin-8 in milk of breastfeeding women with mastitis.
derivatives of peptide fragment (54-59) exhibit immunosuppressant activity
Title: Derivatives of human beta-casein fragments (54-59) exhibit highly potent immunosuppressant activity.
New functions of lactoferrin and beta-casein in mammalian milk as cysteine protease inhibitors. They might play a role in antiseptic and antiinfectious functions due to cysteine protease inhibition of bacteria and viruses.
Title: New functions of lactoferrin and beta-casein in mammalian milk as cysteine protease inhibitors.
a negative cross talk between PR and Stat5a/GR may contribute to the physiological role of progesterone to repress lactogenic hormone induction of the beta-casein gene
Title: Progesterone receptor repression of prolactin/signal transducer and activator of transcription 5-mediated transcription of the beta-casein gene in mammary epithelial cells.
The RCM-kappa does form concentration-dependent micelles. Also, beta-CN phosphorylation level influences micelle formation. Complexes were low-temperature reversible and RCM-kappa fibrils were seen.
Title: Reconstituted micelle formation using reduced, carboxymethylated bovine kappa-casein and human beta-casein.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of casein beta (CSN2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-59528 (e-PCR)
- UniSTS:49172

CSN2_8285 (e-PCR)
- UniSTS:471402

GDB:193679 (e-PCR)
- UniSTS:155754

NoName (e-PCR)
- UniSTS:480973

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables cysteine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in lactation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

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)

NM_001302770.2 → NP_001289699.1 beta-casein isoform 2 precursor

See identical proteins and their annotated locations for NP_001289699.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC063956, AC108941

UniProtKB/Swiss-Prot

P05814

Conserved Domains (1) summary

pfam00363
Location:130 → 194

Casein; Casein
NM_001385731.1 → NP_001372660.1 beta-casein isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AC063956, AC108941

Conserved Domains (1) summary

pfam00363
Location:114 → 180

Casein
NM_001891.4 → NP_001882.1 beta-casein isoform 1 precursor

See identical proteins and their annotated locations for NP_001882.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC063956, AC108941

Consensus CDS

CCDS3532.1

UniProtKB/Swiss-Prot

P05814, Q4VAZ9, Q9UCM5

UniProtKB/TrEMBL

W5RWE1

Related

ENSP00000341030.3, ENST00000353151.4

Conserved Domains (1) summary

pfam00363
Location:131 → 195

Casein; Casein