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CSN2 casein beta [ Homo sapiens (human) ]

Gene ID: 1447, updated on 5-Aug-2018

Summary

Official Symbol
CSN2provided by HGNC
Official Full Name
casein betaprovided by HGNC
Primary source
HGNC:HGNC:2447
See related
Ensembl:ENSG00000135222 MIM:115460; Vega:OTTHUMG00000129409
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
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CSN2 in Genome Data Viewer
Location:
4q13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (69955256..69965762, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (70820974..70826726, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sulfotransferase family 1E member 1 Neighboring gene casein alpha s1 Neighboring gene uncharacterized LOC105377269 Neighboring gene statherin

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
    Glucocorticoid receptor regulatory network, organism-specific biosystem
    Glucocorticoid receptor regulatory network
  • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
  • Prolactin signaling pathway, organism-specific biosystem (from KEGG)
    Prolactin signaling pathway, organism-specific biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
  • Prolactin signaling pathway, conserved biosystem (from KEGG)
    Prolactin signaling pathway, conserved biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by PTP1B, organism-specific biosystem
    Signaling events mediated by PTP1B

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
cysteine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
calcium ion transport TAS
Traceable Author Statement
more info
PubMed 
lactation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lactation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001302770.1NP_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, BC096194, BC096196, X55739
    UniProtKB/Swiss-Prot
    P05814
    Conserved Domains (1) summary
    pfam00363
    Location:130194
    Casein; Casein
  2. NM_001891.3NP_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 longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC063956, BC096196, BC096197, X55739
    Consensus CDS
    CCDS3532.1
    UniProtKB/Swiss-Prot
    P05814
    UniProtKB/TrEMBL
    W5RWE1
    Related
    ENSP00000341030.3, OTTHUMP00000159775, ENST00000353151.3, OTTHUMT00000251565
    Conserved Domains (1) summary
    pfam00363
    Location:131195
    Casein; Casein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    69955256..69965762 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007760.1XP_016863249.1  beta-casein isoform X1

    UniProtKB/Swiss-Prot
    P05814
    UniProtKB/TrEMBL
    W5RWE1
    Conserved Domains (1) summary
    pfam00363
    Location:131195
    Casein; Casein

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_013171801.1 Reference GRCh38.p12 PATCHES

    Range
    188..5898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001756926.1 RNA Sequence

  2. XR_001756927.1 RNA Sequence

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