CSN2 - casein beta Gene

Also Known as CASB; PDC213

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1447

About CSN2

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:69,955,256-69,965,728 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele and 86 orthologues. Low expression observed in reference dataset.

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]

CSN2 Products (3)

mRNA Protein Name
NM_001302770.2 NP_001289699.1 beta-casein isoform 2 precursor
NM_001385731.1 NP_001372660.1 beta-casein isoform 3 precursor
NM_001891.4 NP_001882.1 beta-casein isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables cysteine-type endopeptidase inhibitor activity IDA
IDA: Inferred from direct assay
12788072 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
31515488 GOA
Biological Process GO Annotation Evidence References Source
involved in lactation IDA
IDA: Inferred from direct assay
7979373 GOA
involved in negative regulation of cysteine-type endopeptidase activity IDA
IDA: Inferred from direct assay
12788072 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
7979373 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CSN2 Protein Structure

Casein

Casein: Casein (129 - 212)

  • 0
  • 100
  • 200
  • 226 a.a.
Protein Preferred Names Protein Names

beta-casein

CSN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CSN2 P05814 FHL2 Homo sapiens Q14192 32296183
Intra
CSN2 P05814 FHL2 Homo sapiens Q14192 32296183
Intra
CSN2 P05814 FHL2 Homo sapiens Q14192 31515488
Intra
CSN2 P05814 FHL2 Homo sapiens Q14192 32296183
Intra
CSN2 P05814 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
CSN2 P05814 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
CSN2 P05814 UBQLN2 Homo sapiens Q9UHD9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

CSN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81091 Beta casein Antibody (YA3483) WB, IP Human

Related Diseases

Diseases Alias
Milk Allergy
  • Milk Allergic Reaction

  • Milk Hypersensitivity

  • Allergy Milk

Mastitis
  • Breast Inflammation

  • Inflammatory Breast Disease

  • Inflammatory Disease Of Breast

  • Inflammation Of Non-Human Mammary Gland

  • Inflammatory Disorder Of Breast

  • Mastitis Nos

  • Acute Mastitis Nos

  • Acute Nonpuerperal Mastitis

  • Nonpuerperal Mastitis Nos

  • Subacute Mastitis Nos

Goat Milk Allergy
  • Capra Hircus Milk Allergy

Cow Milk Allergy
  • Bos Taurus Milk Allergy

  • Cow'S Milk Protein Sensitivity

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Lactose Intolerance
  • Lactose Malabsorption

  • Lm - Lactose Malabsorption

  • Alactasia

  • Dairy Product Intolerance

  • Hypolactasia

  • Milk Sugar Intolerance

  • Cow Milk Enteropathy

  • Intolerance Or Malabsorption Of Lactose

  • Lm - [Lactose Malabsorption]

  • Milk Intolerance

Epilepsy, Juvenile Absence 1
  • Epilepsy, Juvenile Absence, Susceptibility To, 1

  • EJA1

  • JAE1

  • Juvenile Absence Epilepsy 1

  • Susceptibility To Juvenile Absence Epilepsy 1

  • Epilepsy, Juvenile Absence, Susceptibility To, Type 1

  • Absence Epilepsy

Polyposis Syndrome, Hereditary Mixed, 2
  • HMPS2

  • Hereditary Mixed Polyposis Syndrome 2

  • Polyposis Syndrome, Mixed Hereditary 2

  • Polyposis Syndrome, Hereditary Mixed, Type 2

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CSN2 RGD RGD:61981
Mus musculus CSN2 MGD MGI:88541
Felis catus CSN2 VGNC VGNC:78476
Macaca mulatta CSN2 VGNC VGNC:71523
Canis familiaris CSN2 VGNC VGNC:39665
Bos taurus CSN2 VGNC VGNC:27764