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Aliases for CABP4 Gene

Aliases for CABP4 Gene

  • Calcium Binding Protein 4 2 3 5
  • CSNB2B 3
  • CaBP4 4
  • CRSD 3

External Ids for CABP4 Gene

Previous GeneCards Identifiers for CABP4 Gene

  • GC11M069718
  • GC11P068916
  • GC11P067469
  • GC11P066995
  • GC11P066998
  • GC11P066976
  • GC11P067222
  • GC11P063553

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 cone-rod synaptic disorder, congenital nonprogressive and congenital stationary night blindness, type 2b. 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

Regulatory Elements for CABP4 Gene

Genomic Location for CABP4 Gene

Chromosome:
11
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

Genes around CABP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CABP4

No data available for DME Specific Peptides for CABP4 Gene

Domains & Families for CABP4 Gene

Gene Families for CABP4 Gene

Protein Domains for CABP4 Gene

Suggested Antigen Peptide Sequences for CABP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57796

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for CABP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CABP4 Gene

MGI Knock Outs for CABP4:

Animal Model Products

miRNA for CABP4 Gene

miRTarBase miRNAs that target CABP4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
genes like me logo Genes that share ontologies with CABP4: view

Pathways & Interactions 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:0007601 visual perception IMP 16960802
GO:0046549 retinal cone cell development IEA --
GO:0060040 retinal bipolar neuron differentiation IEA --
genes like me logo Genes that share ontologies with CABP4: view

No data available for SIGNOR curated interactions for CABP4 Gene

Drugs & Compounds for CABP4 Gene

No Compound Related Data Available

Transcripts 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 (x10.3).

Protein differential expression in normal tissues from HIPED for CABP4 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CABP4: view

Protein tissue co-expression partners for CABP4 Gene

Primer Products

In Situ Assay Products

Orthologs for CABP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CABP4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CABP4 35
  • 84.24 (n)
  • 78.91 (a)
CABP4 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CABP4 35
  • 82.48 (n)
  • 77.74 (a)
CABP4 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cabp4 35
  • 80.44 (n)
  • 77.99 (a)
Cabp4 16
Cabp4 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CABP4 35
  • 99.64 (n)
  • 99.64 (a)
CABP4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cabp4 35
  • 78.45 (n)
  • 75.29 (a)
oppossum
(Monodelphis domestica)
Mammalia CABP4 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves CABP4 35
  • 66.82 (n)
  • 64.29 (a)
CABP4 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CABP4 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC147450 35
  • 54.47 (n)
  • 48.97 (a)
zebrafish
(Danio rerio)
Actinopterygii cabp4 35
  • 56.86 (n)
  • 52.94 (a)
cabp4 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11638 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-8 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(11) 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
rs121917828 Cone-rod synaptic disorder, congenital non-progressive (CRSD) 67,456,191(+) AGGAC(C/T)GCGAA reference, missense
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

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

Variation tolerance for CABP4 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CABP4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CABP4 Gene

Disorders for CABP4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CABP4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CABP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CABP4_HUMAN
  • Cone-rod synaptic disorder, congenital non-progressive (CRSD) [MIM:610427]: A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. {ECO:0000269 PubMed:16960802}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CABP4

Genetic Association Database (GAD)
CABP4
Human Genome Epidemiology (HuGE) Navigator
CABP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CABP4
genes like me logo Genes that share disorders with CABP4: view

No data available for Genatlas for CABP4 Gene

Publications for CABP4 Gene

  1. 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 67
  2. A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. (PMID: 20157620) Aldahmesh M.A. … Alkuraya F.S. (Mol. Vis. 2010) 3 23
  3. 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. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. (PMID: 23714322) Bijveld M.M. … van Genderen M.M. (Ophthalmology 2013) 3
  5. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). (PMID: 22936811) Shaltiel L. … Wahl-Schott C.A. (J. Biol. Chem. 2012) 3

Products for CABP4 Gene

Sources for CABP4 Gene

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