Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CALB2 Gene

Aliases for CALB2 Gene

  • Calbindin 2 2 3 5
  • 29 KDa Calbindin 3 4
  • CAB29 3 4
  • CR 3 4
  • Testicular Secretory Protein Li 8 3
  • Calbindin 2, 29kDa (Calretinin) 2
  • Calbindin 2, (29kD, Calretinin) 3
  • Calbindin D29K 3
  • Calretinin 2
  • CAL2 3

External Ids for CALB2 Gene

Previous GeneCards Identifiers for CALB2 Gene

  • GC16P062284
  • GC16P072115
  • GC16P071128
  • GC16P071168
  • GC16P069950
  • GC16P057160

Summaries for CALB2 Gene

Entrez Gene Summary for CALB2 Gene

  • This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

GeneCards Summary for CALB2 Gene

CALB2 (Calbindin 2) is a Protein Coding gene. Diseases associated with CALB2 include Adenomatoid Tumor and Sertoli Cell Tumor. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SCGN.

UniProtKB/Swiss-Prot for CALB2 Gene

  • Calretinin is a calcium-binding protein which is abundant in auditory neurons.

Gene Wiki entry for CALB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALB2 Gene

Genomics for CALB2 Gene

Regulatory Elements for CALB2 Gene

Enhancers for CALB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CALB2 on UCSC Golden Path with GeneCards custom track

Promoters for CALB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CALB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CALB2 Gene

Chromosome:
16
Start:
71,358,713 bp from pter
End:
71,390,438 bp from pter
Size:
31,726 bases
Orientation:
Plus strand

Genomic View for CALB2 Gene

Genes around CALB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALB2 Gene

Proteins for CALB2 Gene

  • Protein details for CALB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22676-CALB2_HUMAN
    Recommended name:
    Calretinin
    Protein Accession:
    P22676
    Secondary Accessions:
    • A8K4Y1
    • Q53HD2
    • Q96BK4

    Protein attributes for CALB2 Gene

    Size:
    271 amino acids
    Molecular mass:
    31540 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CALB2 Gene

Proteomics data for CALB2 Gene at MOPED

Post-translational modifications for CALB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CALB2 Gene

Antibody Products

No data available for DME Specific Peptides for CALB2 Gene

Domains & Families for CALB2 Gene

Gene Families for CALB2 Gene

Protein Domains for CALB2 Gene

Suggested Antigen Peptide Sequences for CALB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22676

UniProtKB/Swiss-Prot:

CALB2_HUMAN :
  • Contains 6 EF-hand domains.
  • Belongs to the calbindin family.
Domain:
  • Contains 6 EF-hand domains.
Family:
  • Belongs to the calbindin family.
genes like me logo Genes that share domains with CALB2: view

Function for CALB2 Gene

Molecular function for CALB2 Gene

GENATLAS Biochemistry:
calbindin (29kDa),vitamin D dependent calcium binding protein 2,from the intestine
UniProtKB/Swiss-Prot Function:
Calretinin is a calcium-binding protein which is abundant in auditory neurons.
genes like me logo Genes that share phenotypes with CALB2: view

Animal Models for CALB2 Gene

MGI Knock Outs for CALB2:

Animal Model Products

miRNA for CALB2 Gene

miRTarBase miRNAs that target CALB2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CALB2 Gene

Localization for CALB2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CALB2 Gene COMPARTMENTS Subcellular localization image for CALB2 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 3
extracellular 2
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CALB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA,IBA --
GO:0005921 gap junction IEA --
GO:0045202 synapse IBA --
genes like me logo Genes that share ontologies with CALB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CALB2 Gene

Pathways & Interactions for CALB2 Gene

SuperPathways for CALB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CALB2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CALB2 Gene

Drugs & Compounds for CALB2 Gene

(18) Drugs for CALB2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(15) Additional Compounds for CALB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CALB2: view

Transcripts for CALB2 Gene

Unigene Clusters for CALB2 Gene

Calbindin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CALB2 Gene

No ASD Table

Relevant External Links for CALB2 Gene

GeneLoc Exon Structure for
CALB2
ECgene alternative splicing isoforms for
CALB2

Expression for CALB2 Gene

mRNA expression in normal human tissues for CALB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CALB2 Gene

This gene is overexpressed in Brain - Hypothalamus (x11.9), Adipose - Visceral (Omentum) (x4.4), Brain - Cerebellum (x4.3), and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for CALB2 Gene

This gene is overexpressed in Testis (29.9), Nasopharynx (10.2), and Fetal testis (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CALB2 Gene



SOURCE GeneReport for Unigene cluster for CALB2 Gene Hs.106857

mRNA Expression by UniProt/SwissProt for CALB2 Gene

P22676-CALB2_HUMAN
Tissue specificity: Brain.
genes like me logo Genes that share expression patterns with CALB2: view

Primer Products

No data available for Protein tissue co-expression partners for CALB2 Gene

Orthologs for CALB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CALB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CALB2 35
  • 91.39 (n)
  • 96.68 (a)
CALB2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CALB2 35
  • 93.68 (n)
  • 98.42 (a)
CALB2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Calb2 35
  • 91.02 (n)
  • 98.52 (a)
Calb2 16
Calb2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Calb2 35
  • 91.14 (n)
  • 98.89 (a)
oppossum
(Monodelphis domestica)
Mammalia CALB2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALB2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CALB2 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves CALB2 35
  • 81.04 (n)
  • 86.99 (a)
CALB2 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia calb2 35
  • 72.68 (n)
  • 79.32 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
calb2a 35
  • 73.36 (n)
  • 77.32 (a)
calb2a 36
  • 76 (a)
OneToMany
calb2b 36
  • 72 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.698 35
fruit fly
(Drosophila melanogaster)
Insecta Cbp53E 37
  • 46 (a)
Cbp53E 36
  • 41 (a)
OneToMany
Species with no ortholog for CALB2:
  • 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)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CALB2 Gene

ENSEMBL:
Gene Tree for CALB2 (if available)
TreeFam:
Gene Tree for CALB2 (if available)

Paralogs for CALB2 Gene

Paralogs for CALB2 Gene

(3) SIMAP similar genes for CALB2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CALB2: view

Variants for CALB2 Gene

Sequence variations from dbSNP and Humsavar for CALB2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4404075 -- 71,357,665(+) GGTAA(G/T)GTGTC upstream-variant-2KB
rs9745319 -- 71,366,026(+) tctct(C/T)ttttt intron-variant
rs889704 -- 71,358,159(-) GTCTT(G/T)CAGAG upstream-variant-2KB
rs9934519 -- 71,362,269(+) ATTTT(A/G)CTGAC intron-variant
rs62055045 -- 71,362,758(+) ATAGC(A/G)GCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CALB2 Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
esv2640068 CNV Insertion 19546169

Variation tolerance for CALB2 Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.87; 79.42% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CALB2 Gene

Disorders for CALB2 Gene

MalaCards: The human disease database

(62) MalaCards diseases for CALB2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adenomatoid tumor
  • adenomatoid tumor nos
sertoli cell tumor
  • tubular androblastoma nos
sex cord-gonadal stromal tumor
  • malignant testicular sex cord-stromal tumor
sertoli-leydig cell tumor
  • sertoli-leydig cell tumors
malignant pleural mesothelioma
  • malignant mesothelioma of pleura
- elite association - COSMIC cancer census association via MalaCards
Search CALB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CALB2

Genetic Association Database (GAD)
CALB2
Human Genome Epidemiology (HuGE) Navigator
CALB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CALB2
genes like me logo Genes that share disorders with CALB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CALB2 Gene

Publications for CALB2 Gene

  1. Heterozygosity of SNP513 in intron 9 of the human calretinin gene (CALB2) is a risk factor for colon cancer. (PMID: 18214032) Vonlanthen S. … Schwaller B. (Anticancer Res. 2007) 3 23 48 67
  2. The human calbindin D28k (CALB1) and calretinin (CALB2) genes are located at 8q21.3----q22.1 and 16q22----q23, respectively, suggesting a common duplication with the carbonic anhydrase isozyme loci. (PMID: 1906795) Parmentier M. … Mattei M.G. (Cytogenet. Cell Genet. 1991) 2 3 23
  3. A bipartite butyrate-responsive element in the human calretinin (CALB2) promoter acts as a repressor in colon carcinoma cells but not in mesothelioma cells. (PMID: 19998412) HAoner K. … Schwaller B. (J. Cell. Biochem. 2010) 3 23
  4. Differentiating the undifferentiated: immunohistochemical profile of medullary carcinoma of the colon with an emphasis on intestinal differentiation. (PMID: 18992917) Winn B. … Resnick M.B. (Hum. Pathol. 2009) 3 23
  5. SV40-induced expression of calretinin protects mesothelial cells from asbestos cytotoxicity and may be a key factor contributing to mesothelioma pathogenesis. (PMID: 19435792) Henzi T. … Schwaller B. (Am. J. Pathol. 2009) 3 23

Products for CALB2 Gene

Sources for CALB2 Gene

Content