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Aliases for CABP2 Gene

Aliases for CABP2 Gene

  • Calcium Binding Protein 2 2 3 5
  • DFNB93 3
  • CaBP2 4

External Ids for CABP2 Gene

Previous GeneCards Identifiers for CABP2 Gene

  • GC11M069809
  • GC11M068982
  • GC11M067061
  • GC11M067043
  • GC11M067286
  • GC11M063615

Summaries for CABP2 Gene

Entrez Gene Summary for CABP2 Gene

  • This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for CABP2 Gene

CABP2 (Calcium Binding Protein 2) is a Protein Coding gene. Diseases associated with CABP2 include deafness, autosomal recessive 93 and autosomal recessive non-syndromic sensorineural deafness type dfnb. Among its related pathways are Visual Cycle in Retinal Rods. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TNNC2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CABP2 Gene

Genomics for CABP2 Gene

Regulatory Elements for CABP2 Gene

Enhancers for CABP2 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 CABP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CABP2 Gene

Chromosome:
11
Start:
67,518,912 bp from pter
End:
67,523,614 bp from pter
Size:
4,703 bases
Orientation:
Minus strand

Genomic View for CABP2 Gene

Genes around CABP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABP2 Gene

Proteins for CABP2 Gene

  • Protein details for CABP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPB3-CABP2_HUMAN
    Recommended name:
    Calcium-binding protein 2
    Protein Accession:
    Q9NPB3

    Protein attributes for CABP2 Gene

    Size:
    220 amino acids
    Molecular mass:
    24482 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CABP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CABP2 Gene

Proteomics data for CABP2 Gene at MOPED

Post-translational modifications for CABP2 Gene

No Post-translational modifications

Other Protein References for CABP2 Gene

No data available for DME Specific Peptides for CABP2 Gene

Domains & Families for CABP2 Gene

Gene Families for CABP2 Gene

Protein Domains for CABP2 Gene

Suggested Antigen Peptide Sequences for CABP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NPB3

UniProtKB/Swiss-Prot:

CABP2_HUMAN :
  • Contains 4 EF-hand domains.
Domain:
  • Contains 4 EF-hand domains.
genes like me logo Genes that share domains with CABP2: view

Function for CABP2 Gene

Phenotypes for CABP2 Gene

GenomeRNAi human phenotypes for CABP2:
genes like me logo Genes that share phenotypes with CABP2: view

Human Phenotype Ontology for CABP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CABP2 Gene

miRTarBase miRNAs that target CABP2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CABP2 Gene

Localization for CABP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABP2 Gene

Cytoplasm, perinuclear region. Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CABP2 Gene COMPARTMENTS Subcellular localization image for CABP2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for CABP2 Gene

Pathways & Interactions for CABP2 Gene

SuperPathways for CABP2 Gene

genes like me logo Genes that share pathways with CABP2: view

Pathways by source for CABP2 Gene

1 Qiagen pathway for CABP2 Gene

Gene Ontology (GO) - Biological Process for CABP2 Gene

None

No data available for SIGNOR curated interactions for CABP2 Gene

Drugs & Compounds for CABP2 Gene

No Compound Related Data Available

Transcripts for CABP2 Gene

mRNA/cDNA for CABP2 Gene

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

Unigene Clusters for CABP2 Gene

Calcium binding protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CABP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1:
SP2:

Relevant External Links for CABP2 Gene

GeneLoc Exon Structure for
CABP2
ECgene alternative splicing isoforms for
CABP2

Expression for CABP2 Gene

mRNA expression in normal human tissues for CABP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for CABP2 Gene Hs.278984

mRNA Expression by UniProt/SwissProt for CABP2 Gene

Q9NPB3-CABP2_HUMAN
Tissue specificity: Retina.
genes like me logo Genes that share expression patterns with CABP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CABP2 Gene

Orthologs for CABP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CABP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CABP2 35
  • 92.39 (n)
  • 95.3 (a)
CABP2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CABP2 35
  • 89.24 (n)
  • 88.64 (a)
CABP2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cabp2 35
  • 85.34 (n)
  • 89.81 (a)
Cabp2 16
Cabp2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CABP2 35
  • 99.55 (n)
  • 99.09 (a)
CABP2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cabp2 35
  • 85.49 (n)
  • 90.28 (a)
oppossum
(Monodelphis domestica)
Mammalia CABP2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CABP2 35
  • 75.66 (n)
  • 72.56 (a)
CABP2 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CABP2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487419 35
  • 68.62 (n)
  • 77.19 (a)
zebrafish
(Danio rerio)
Actinopterygii cabp2a 35
  • 73.3 (n)
  • 75.57 (a)
cabp2a 36
  • 60 (a)
OneToMany
cabp2b 36
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11638 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-8 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for CABP2:
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 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)

Evolution for CABP2 Gene

ENSEMBL:
Gene Tree for CABP2 (if available)
TreeFam:
Gene Tree for CABP2 (if available)

Paralogs for CABP2 Gene

genes like me logo Genes that share paralogs with CABP2: view

Variants for CABP2 Gene

Sequence variations from dbSNP and Humsavar for CABP2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs2276118 - 67,521,123(-) AGACC(A/G)GGACG reference, missense
rs652221 -- 67,519,345(-) TGTTT(G/T)TCCCC intron-variant
rs682208 -- 67,518,604(+) TCTTA(A/C/T)AGTAC downstream-variant-500B
rs685350 -- 67,519,998(+) AGCCC(C/T)TCACT intron-variant
rs687058 -- 67,520,372(+) AACTT(A/C)TTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CABP2 Gene

Variant ID Type Subtype PubMed ID
nsv897797 CNV Loss 21882294
nsv897801 CNV Loss 21882294
dgv1193n71 CNV Loss 21882294
dgv1194n71 CNV Loss 21882294
nsv521723 CNV Loss 19592680
nsv527056 CNV Loss 19592680
esv2422195 CNV Duplication 17116639

Variation tolerance for CABP2 Gene

Residual Variation Intolerance Score: 53.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.85; 94.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CABP2 Gene

HapMap Linkage Disequilibrium report
CABP2
Human Gene Mutation Database (HGMD)
CABP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CABP2 Gene

Disorders for CABP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CABP2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 93
  • deafness, autosomal recessive, 93
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
amebiasis
  • amoebiasis
- elite association - COSMIC cancer census association via MalaCards
Search CABP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CABP2_HUMAN
  • Deafness, autosomal recessive, 93 (DFNB93) [MIM:614899]: A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram. {ECO:0000269 PubMed:22981119}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CABP2

Genetic Association Database (GAD)
CABP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CABP2
genes like me logo Genes that share disorders with CABP2: view

No data available for Genatlas for CABP2 Gene

Publications for CABP2 Gene

  1. Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. (PMID: 10625670) Haeseleer F. … Palczewski K. (J. Biol. Chem. 2000) 2 3 4 67
  2. A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. (PMID: 22981119) Schrauwen I. … Van Camp G. (Am. J. Hum. Genet. 2012) 3
  3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3
  4. Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8. (PMID: 19338761) McCue H.V. … Haynes L.P. (Biochem. Biophys. Res. Commun. 2009) 3
  5. Xenopus SMOC-1 Inhibits bone morphogenetic protein signaling downstream of receptor binding and is essential for postgastrulation development in Xenopus. (PMID: 19414592) Thomas J.T. … Moos M. (J. Biol. Chem. 2009) 23

Products for CABP2 Gene

Sources for CABP2 Gene

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