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Aliases for CABP4 Gene

Aliases for CABP4 Gene

  • Calcium Binding Protein 4 2 3
  • CSNB2B 3 6
  • Calcium-Binding Protein 4 3
  • CaBP4 4

External Ids for CABP4 Gene

Summaries for CABP4 Gene

Entrez Gene Summary for CABP4 Gene

  • This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for CABP4 Gene

CABP4 (Calcium Binding Protein 4) is a Protein Coding gene. Diseases associated with CABP4 include night blindness, congenital stationary , 2b, autosomal recessive and retinal disease. 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 CABP2.

UniProtKB/Swiss-Prot for CABP4 Gene

  • Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CABP4 Gene

Genomics for CABP4 Gene

Genomic Location for CABP4 Gene

Start:
67,452,406 bp from pter
End:
67,461,774 bp from pter
Size:
9,369 bases
Orientation:
Plus strand

Genomic View for CABP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CABP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABP4 Gene

Regulatory Elements for CABP4 Gene

Proteins for CABP4 Gene

  • Protein details for CABP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57796-CABP4_HUMAN
    Recommended name:
    Calcium-binding protein 4
    Protein Accession:
    P57796
    Secondary Accessions:
    • Q8N4Z2
    • Q8WWY5

    Protein attributes for CABP4 Gene

    Size:
    275 amino acids
    Molecular mass:
    30433 Da
    Quaternary structure:
    • Interacts with CACNA1F and CACNA1D (via IQ domain) in a calcium independent manner. Interacts (via N-terminus) with UNC119.

    Alternative splice isoforms for CABP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CABP4 Gene

Proteomics data for CABP4 Gene at MOPED

Post-translational modifications for CABP4 Gene

  • Phosphorylated. Phosphorylation levels change with the light conditions and regulate the activity (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CABP4 Gene

No data available for DME Specific Peptides for CABP4 Gene

Domains for CABP4 Gene

Gene Families for CABP4 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for CABP4 Gene

UniProtKB/Swiss-Prot:

CABP4_HUMAN
Domain:
  • Contains 4 EF-hand domains.:
    • P57796
genes like me logo Genes that share domains with CABP4: view

Function for CABP4 Gene

Molecular function for CABP4 Gene

UniProtKB/Swiss-Prot Function: Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity).

Gene Ontology (GO) - Molecular Function for CABP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding TAS 15452577
genes like me logo Genes that share ontologies with CABP4: view

Phenotypes for CABP4 Gene

genes like me logo Genes that share phenotypes with CABP4: view

Animal Models for CABP4 Gene

MGI Knock Outs for CABP4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CABP4 Gene

Localization for CABP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABP4 Gene

Cytoplasm. Note=Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CABP4 Gene COMPARTMENTS Subcellular localization image for CABP4 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3

Gene Ontology (GO) - Cellular Components for CABP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 16960802
GO:0005829 cytosol IDA 19338761
GO:0043195 terminal bouton TAS 15452577
GO:0045202 synapse TAS 16960802
genes like me logo Genes that share ontologies with CABP4: view

Pathways for CABP4 Gene

SuperPathways for CABP4 Gene

genes like me logo Genes that share pathways with CABP4: view

Pathways by source for CABP4 Gene

1 Qiagen pathway for CABP4 Gene

Gene Ontology (GO) - Biological Process for CABP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 10625670
GO:0007601 visual perception IMP 16960802
GO:0007602 phototransduction IEA --
GO:0008594 photoreceptor cell morphogenesis IEA --
GO:0046549 retinal cone cell development IEA --
genes like me logo Genes that share ontologies with CABP4: view

Transcripts for CABP4 Gene

mRNA/cDNA for CABP4 Gene

Unigene Clusters for CABP4 Gene

Calcium binding protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CABP4 Gene

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

Relevant External Links for CABP4 Gene

GeneLoc Exon Structure for
CABP4
ECgene alternative splicing isoforms for
CABP4

Expression for CABP4 Gene

mRNA expression in normal human tissues for CABP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CABP4 Gene

This gene is overexpressed in Spleen (10.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CABP4 Gene

SOURCE GeneReport for Unigene cluster for CABP4 Gene Hs.143036

mRNA Expression by UniProt/SwissProt for CABP4 Gene

P57796-CABP4_HUMAN
Tissue specificity: Expressed in retina and in the inner hair cells (IHC) of the cochlea
genes like me logo Genes that share expressions with CABP4: view

Orthologs for CABP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CABP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CABP4 36
  • 99.64 (n)
  • 99.64 (a)
CABP4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CABP4 36
  • 84.24 (n)
  • 78.91 (a)
CABP4 37
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CABP4 36
  • 82.48 (n)
  • 77.74 (a)
CABP4 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cabp4 36
  • 80.44 (n)
  • 77.99 (a)
Cabp4 16
Cabp4 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CABP4 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cabp4 36
  • 78.45 (n)
  • 75.29 (a)
chicken
(Gallus gallus)
Aves CABP4 36
  • 66.82 (n)
  • 64.29 (a)
CABP4 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CABP4 37
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC147450 36
  • 54.47 (n)
  • 48.97 (a)
zebrafish
(Danio rerio)
Actinopterygii cabp4 36
  • 56.86 (n)
  • 52.94 (a)
cabp4 37
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11638 37
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-8 37
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToMany
Species with no ortholog for CABP4:
  • 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 CABP4 Gene

ENSEMBL:
Gene Tree for CABP4 (if available)
TreeFam:
Gene Tree for CABP4 (if available)

Paralogs for CABP4 Gene

Selected SIMAP similar genes for CABP4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CABP4: view

Variants for CABP4 Gene

Sequence variations from dbSNP and Humsavar for CABP4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs949255 -- 67,450,795(-) AAGGC(C/T)CTGGT upstream-variant-2KB
rs1624189 -- 67,457,833(+) TCACT(A/C)CCAGC intron-variant, downstream-variant-500B
rs1625032 -- 67,456,807(+) GCACC(C/T)TCTCT intron-variant
rs1625892 -- 67,456,904(+) CCACC(C/T)ATGCC intron-variant
rs1630068 -- 67,457,368(+) ACTTG(C/G)GTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CABP4 Gene

Variant ID Type Subtype PubMed ID
nsv897797 CNV Loss 21882294
nsv897801 CNV Loss 21882294
nsv897804 CNV Gain 21882294
dgv1193n71 CNV Loss 21882294
dgv1194n71 CNV Loss 21882294
nsv521723 CNV Loss 19592680
nsv524096 CNV Loss 19592680
nsv468604 CNV Loss 19166990
nsv527056 CNV Loss 19592680
nsv528976 CNV Loss 19592680

Relevant External Links for CABP4 Gene

HapMap Linkage Disequilibrium report
CABP4
Human Gene Mutation Database (HGMD)
CABP4

Disorders for CABP4 Gene

(1) OMIM Diseases for CABP4 Gene (608965)

UniProtKB/Swiss-Prot

CABP4_HUMAN
  • Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269 PubMed:16960802}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CABP4 Gene

Relevant External Links for CABP4

Genetic Association Database (GAD)
CABP4
Human Genome Epidemiology (HuGE) Navigator
CABP4
genes like me logo Genes that share disorders with CABP4: view

Publications for CABP4 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
  2. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PMID: 16960802) Zeitz C. … Berger W. (Am. J. Hum. Genet. 2006) 2 3 4
  3. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. (PMID: 15452577) Haeseleer F. … Palczewski K. (Nat. Neurosci. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3 4

Products for CABP4 Gene

Sources for CABP4 Gene

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