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Aliases for CABP2 Gene

Aliases for CABP2 Gene

  • Calcium Binding Protein 2 2 3 5
  • Calcium-Binding Protein 2 3
  • 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 Dfnb93 Nonsyndromic Hearing Loss And Deafness. 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 CABP1.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F068255 1.3 Ensembl ENCODE 16.2 -732.5 -732500 2.3 HDGF ARID4B DMAP1 ZNF48 KLF7 KLF13 DEK SP5 MXD4 REST C11orf24 OR7E145P CABP2 NDUFS8 UNC93B1 PIR35627
GH11F066615 1.1 ENCODE 16.2 +906.6 906583 4.8 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ACTN3 LOC105369351 CABP2 RBM4 RAD9A RBM4B RIN1 PIR51437 PIR40941
GH11F067560 1.2 Ensembl ENCODE 11.7 -38.4 -38368 3.9 PKNOX1 ATF1 GATA2 FOS JUNB REST TBX21 ZNF592 CREB3 MEF2D PTPRCAP AIP NDUFV1 ENSG00000258297 CLCF1 RBM4B CABP2 C11orf72 ENSG00000255119 DOC2GP
GH11F067593 0.2 ENCODE 10.8 -69.2 -69188 0.2 ENSG00000255318 NUDT8 CABP2 GC11P067588 ENSG00000255119
GH11F067529 0.7 Ensembl 0.4 -5.2 -5184 0.2 HDAC1 HLF TAL1 NRF1 CEBPB CEBPG DPF2 ARID1B IRF9 NCOR1 ENSG00000283257 CABP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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:
67,524,517 bp from pter
Size:
5,606 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

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

Gene Ontology (GO) - Molecular Function for CABP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CABP2: view

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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 CABP2 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CABP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 19338761
GO:0005886 plasma membrane IDA 19338761
GO:0016020 membrane IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with CABP2: view

Pathways & Interactions for CABP2 Gene

SuperPathways for CABP2 Gene

SuperPathway Contained pathways
1 Visual Cycle in Retinal Rods
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 10625670
genes like me logo Genes that share ontologies with CABP2: view

No data available for SIGNOR curated interactions for CABP2 Gene

Transcripts for CABP2 Gene

mRNA/cDNA for CABP2 Gene

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

Unigene Clusters for CABP2 Gene

Calcium binding protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for CABP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CABP2 Gene:

CABP2

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
chimpanzee
(Pan troglodytes)
Mammalia CABP2 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia CABP2 34 35
  • 92.39 (n)
dog
(Canis familiaris)
Mammalia CABP2 34 35
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Cabp2 34
  • 85.49 (n)
mouse
(Mus musculus)
Mammalia Cabp2 34 16 35
  • 85.34 (n)
oppossum
(Monodelphis domestica)
Mammalia CABP2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CABP2 34 35
  • 75.66 (n)
lizard
(Anolis carolinensis)
Reptilia CABP2 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487419 34
  • 68.62 (n)
zebrafish
(Danio rerio)
Actinopterygii cabp2a 34 35
  • 73.3 (n)
cabp2b 35
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11638 35
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-8 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for CABP2 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)
  • 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
rs111868974 -- 67,524,569(+) TCCCC(A/G)TGGCC upstream-variant-2KB
rs112250583 -- 67,521,717(+) GCCCT(A/G)TCACC intron-variant
rs112972069 -- 67,522,203(+) TGGGC(C/T)GTCCT intron-variant
rs114359066 -- 67,522,074(+) CCCAC(A/G)ATCCA intron-variant
rs114505827 -- 67,523,257(+) CCTGG(C/T)CTGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv527056 CNV loss 19592680
nsv521723 CNV loss 19592680
esv2422195 CNV duplication 17116639
dgv52n111 CNV deletion 26073780
dgv1977n54 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
CABP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABP2

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

Disorders for CABP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 93
  • autosomal recessive nonsyndromic deafness 93
dfnb93 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 93
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
amebiasis
  • amoebiasis
hodgkin's lymphoma, nodular sclerosis
  • classical hodgkin lymphoma, nodular sclerosis
- 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 64
  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 4 64
  3. 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 4 64
  4. Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease. (PMID: 11108966) Sokal I. … Palczewski K. (Biochim. Biophys. Acta 2000) 3 4 64
  5. 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 64

Products for CABP2 Gene

Sources for CABP2 Gene

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