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CSN3 Gene(Protein Coding)

Casein Kappa

GCID:
GC04P070242
GIFtS:
42
Genes Participants
UDN Logo

Aliases for CSN3 Gene

Aliases for CSN3 Gene

  • Casein Kappa 2 3 5
  • CSN10 3 4
  • CSNK 3 4
  • Casein, Kappa 2
  • Kappa-Casein 3
  • CNS10 3
  • CASK 4
  • KCA 3

External Ids for CSN3 Gene

Previous HGNC Symbols for CSN3 Gene

  • CSN10

Previous GeneCards Identifiers for CSN3 Gene

  • GC04P071156
  • GC04P071358
  • GC04P071423
  • GC04P071289
  • GC04P066910

Summaries for CSN3 Gene

GeneCards Summary for CSN3 Gene

CSN3 (Casein Kappa) is a Protein Coding gene. Diseases associated with CSN3 include Milk Allergy and Food Allergy.

UniProtKB/Swiss-Prot for CSN3 Gene

  • Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk.

Gene Wiki entry for CSN3 Gene

Additional gene information for CSN3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSN3 Gene

Genomics for CSN3 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CSN3 Gene

Promoters and enhancers for CSN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J070238 Promoter 0.5 EPDnew 650.7 +0.1 57 0.1 CSN3 CABS1
GH04J070242 Promoter 0.5 EPDnew 650.7 +4.3 4272 0.1 CSN3 CABS1
GH04J070226 Promoter 0.5 EPDnew 0.4 -12.2 -12201 0.1 FDCSP CSN3
GH04J070295 Enhancer 0.5 dbSUPER 0.2 +59.9 59852 5.7 ZNF316 MAFF MAFG EMSY MAFK CABS1 CSN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSN3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSN3 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • AML1a
  • TBP
  • TFIID
  • POU2F1a
  • POU2F1
  • RORalpha1
  • HNF-3beta

Genomic Locations for CSN3 Gene

Genomic Locations for CSN3 Gene
chr4:70,238,306-70,251,432
(GRCh38/hg38)
Size:
13,127 bases
Orientation:
Plus strand
chr4:71,108,305-71,117,145
(GRCh37/hg19)
Size:
8,841 bases
Orientation:
Plus strand

Genomic View for CSN3 Gene

Genes around CSN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSN3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CSN3 Gene

Proteins for CSN3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CSN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07498-CASK_HUMAN
    Recommended name:
    Kappa-casein
    Protein Accession:
    P07498
    Secondary Accessions:
    • Q13575

    Protein attributes for CSN3 Gene

    Size:
    182 amino acids
    Molecular mass:
    20305 Da
    Quaternary structure:
    • Heteromultimers composed of alpha-s1 casein and kappa casein linked by disulfide bonds.

neXtProt entry for CSN3 Gene

Protein Expression for CSN3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CSN3 Gene

  • The N-terminus is blocked.
  • Glycosylation at Thr178, Thr169, Thr167, Thr157, Thr151, Thr148, posLast=143143, and Thr133
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CASK_HUMAN (308)

Other Protein References for CSN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CSN3 Gene

Domains & Families for CSN3 Gene

Gene Families for CSN3 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for CSN3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CSN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07498

UniProtKB/Swiss-Prot:

CASK_HUMAN :
  • Belongs to the kappa-casein family.
Family:
  • Belongs to the kappa-casein family.
genes like me logo Genes that share domains with CSN3: view

Function for CSN3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CSN3 Gene

UniProtKB/Swiss-Prot Function:
Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk.

Phenotypes From GWAS Catalog for CSN3 Gene

Gene Ontology (GO) - Molecular Function for CSN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CSN3: view
genes like me logo Genes that share phenotypes with CSN3: view

Animal Models for CSN3 Gene

MGI Knock Outs for CSN3:
  • Csn3 Csn3<tm1Kuma>

Animal Model Products

miRNA for CSN3 Gene

miRTarBase miRNAs that target CSN3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSN3 Gene

Localization for CSN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSN3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSN3 gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CSN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 7979373
genes like me logo Genes that share ontologies with CSN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSN3 Gene

Pathways & Interactions for CSN3 Gene

SuperPathways for CSN3 Gene

PathCards logo More details on SuperPathways for CSN3
No Data Available

Gene Ontology (GO) - Biological Process for CSN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007595 lactation IDA 7979373
GO:0050821 protein stabilization IDA 7979373
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with CSN3: view

No data available for Pathways by source and SIGNOR curated interactions for CSN3 Gene

Drugs & Compounds for CSN3 Gene

Products:

  1. Drug

(7) Drugs for CSN3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0

(13) Additional Compounds for CSN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CSN3: view

Transcripts for CSN3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CSN3 Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CSN3 Gene

Casein kappa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSN3 Gene

No ASD Table

Relevant External Links for CSN3 Gene

GeneLoc Exon Structure for
CSN3
ECgene alternative splicing isoforms for
CSN3

Expression for CSN3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSN3 Gene

mRNA expression in normal human tissues for CSN3 Gene
mRNA expression by GTEx for CSN3 GenemRNA expression by BioGPS for CSN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSN3 Gene

This gene is overexpressed in Breast - Mammary Tissue (x33.3) and Minor Salivary Gland (x19.4).

Protein differential expression in normal tissues from HIPED for CSN3 Gene

This gene is overexpressed in Milk (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CSN3 Gene



Protein tissue co-expression partners for CSN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CSN3 Gene:

CSN3

SOURCE GeneReport for Unigene cluster for CSN3 Gene:

Hs.54415

mRNA Expression by UniProt/SwissProt for CSN3 Gene:

P07498-CASK_HUMAN
Tissue specificity: Mammary gland specific. Secreted in milk.

Evidence on tissue expression from TISSUES for CSN3 Gene

  • Nervous system(4.4)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with CSN3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CSN3 Gene

Orthologs for CSN3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CSN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CSN3 34 33
  • 99.27 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CSN3 34 33
  • 80.16 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CSN3 34 33
  • 73.82 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Csn3 33
  • 62.25 (n)
mouse
(Mus musculus)
 Mammalia Csn3 16 34 33
  • 61.51 (n)
Species where no ortholog for CSN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CSN3 Gene

ENSEMBL:
Gene Tree for CSN3 (if available)
TreeFam:
Gene Tree for CSN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSN3: view image

Paralogs for CSN3 Gene

No data available for Paralogs for CSN3 Gene

Variants for CSN3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CSN3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000872162 -- 70,236,568(+) T/C upstream_transcript_variant
rs1000965362 -- 70,240,766(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001119941 -- 70,246,966(+) G/A intron_variant
rs1001300702 -- 70,247,221(+) A/C intron_variant
rs1001305828 -- 70,243,260(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CSN3 Gene

Variant ID Type Subtype PubMed ID
nsv1012495 CNV gain 25217958
nsv594646 CNV gain 21841781
nsv822612 CNV loss 20364138
nsv829963 CNV gain 17160897
nsv998828 CNV gain 25217958

Variation tolerance for CSN3 Gene

Residual Variation Intolerance Score: 81.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSN3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSN3 Gene

Disorders for CSN3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CSN3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
milk allergy
  • milk allergic reaction
food allergy
  • food hypersensitivity
mastitis
  • breast inflammation
renal pelvis carcinoma
  • carcinoma of kidney pelvis
dentin sensitivity
  • sensitive dentin
- elite association - COSMIC cancer census association via MalaCards
Search CSN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSN3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSN3 Gene

Publications for CSN3 Gene

  1. Structural features of a peptide corresponding to human kappa-casein residues 84-101 by 1H-nuclear magnetic resonance spectroscopy. (PMID: 10191473) Plowman JE … Cross JJ (The Journal of dairy research 1999) 3 4 22 58
  2. Structure of the human kappa-casein gene. (PMID: 8863730) Edlund A … Hansson L (Gene 1996) 2 3 4 58
  3. Cloning and sequencing of human kappa-casein cDNA. (PMID: 1296818) Bergström S … Strömqvist M (DNA sequence : the journal of DNA sequencing and mapping 1992) 3 4 22 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Suspension of the calcium-sensitive human beta-caseins by human kappa-casein. (PMID: 12146463) Sood SM … Slatter CW (Journal of dairy science 2002) 3 22 58

Products for CSN3 Gene

Sources for CSN3 Gene

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