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Aliases for CBARP Gene

Aliases for CBARP Gene

  • CACN Beta Subunit Associated Regulatory Protein 2 3 5
  • Calcium Channel, Voltage-Dependent, Beta Subunit Associated Regulatory Protein 2 3
  • VGCC Beta-Anchoring And -Regulatory Protein 2 3
  • C19orf26 3 4
  • Voltage-Dependent Calcium Channel Beta Subunit-Associated Regulatory Protein 3
  • Chromosome 19 Open Reading Frame 26 2
  • Downstream Of STK11 2
  • Downstream Of Stk11 3
  • Protein Dos 3
  • BARP 3
  • DOS 3

External Ids for CBARP Gene

Previous HGNC Symbols for CBARP Gene

  • C19orf26

Summaries for CBARP Gene

GeneCards Summary for CBARP Gene

CBARP (CACN Beta Subunit Associated Regulatory Protein) is a Protein Coding gene. Diseases associated with CBARP include Meibomian Cyst and Morgagni Cataract.

UniProtKB/Swiss-Prot for CBARP Gene

  • Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis.

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

Genomics for CBARP Gene

Regulatory Elements for CBARP Gene

Enhancers for CBARP 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
GH19F001236 1.3 FANTOM5 ENCODE 12.4 -15.1 -15096 41.1 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SF3A2 TMEM259 LOC100288123 C19orf24 MIER2 ENSG00000267317 MIDN CIRBP MUM1 RPS15
GH19F001231 1 Ensembl ENCODE 8.8 +9.2 9168 1.9 KLF17 ZNF2 ZEB1 GLIS2 SCRT2 PPARG NR2F2 ZFP69B ZNF292 GLIS1 TMEM259 ENSG00000267317 LOC100288123 GRIN3B SBNO2 STK11 CIRBP MIER2 CBARP ATP5D
GH19F001442 1.1 FANTOM5 ENCODE 4.5 -202.5 -202539 3.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 APC2 ENSG00000266990 RNA5SP462 C19orf24 C19orf25 PCSK4 REEP6 SCAMP4 MUM1 CBARP
GH19F001725 1.2 FANTOM5 Ensembl ENCODE 2.9 -484.1 -484080 1.3 ELF3 ZNF133 ZFP64 DEAF1 ARID4B ZNF48 ZBTB40 KAT2B ZNF335 ZNF121 ONECUT3 ATP8B3 MIR1909 REXO1 RNU6-1223P TCF3 APC2 MUM1 CBARP ENSG00000275642
GH19F001667 1.2 FANTOM5 Ensembl ENCODE 1.8 -426.7 -426667 2.5 HDGF GLI4 YBX1 ZBTB40 ZNF48 ZNF155 ZEB1 ZNF335 GLIS2 ZNF366 SF3A2 TMEM259 CIRBP LOC100288123 RNU6-1223P ATP8B3 MIR1909 REXO1 RPS15 GRIN3B
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CBARP on UCSC Golden Path with GeneCards custom track

Promoters for CBARP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001815138 -537 1801 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF263 SP3 ZHX2
ENSR00001815137 1363 801 HDGF ATF1 CREB3L1 SIN3A ZNF121 GLIS2 ELK1 ZNF143 ZNF207 FOS

Genomic Location for CBARP Gene

Chromosome:
19
Start:
1,228,287 bp from pter
End:
1,241,763 bp from pter
Size:
13,477 bases
Orientation:
Minus strand

Genomic View for CBARP Gene

Genes around CBARP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CBARP Gene

Proteins for CBARP Gene

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

    Protein Symbol:
    Q8N350-CBARP_HUMAN
    Recommended name:
    Voltage-dependent calcium channel beta subunit-associated regulatory protein
    Protein Accession:
    Q8N350
    Secondary Accessions:
    • K7EJP2
    • O43385

    Protein attributes for CBARP Gene

    Size:
    705 amino acids
    Molecular mass:
    73929 Da
    Quaternary structure:
    • Interacts with voltage-dependent calcium channels CACNB1, CACNB2, CACNB3 and CACNB4 beta subunits; prevents their interaction with the CACNA1C alpha subunit thereby negatively regulating the activity of the corresponding calcium channels.
    SequenceCaution:
    • Sequence=AAC04305.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH28156.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CBARP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBARP Gene

Post-translational modifications for CBARP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for CBARP

No data available for DME Specific Peptides for CBARP Gene

Domains & Families for CBARP Gene

Protein Domains for CBARP Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CBARP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CBARP: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CBARP Gene

Function for CBARP Gene

Molecular function for CBARP Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis.

Gene Ontology (GO) - Molecular Function for CBARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044325 ion channel binding IEA,ISS --
genes like me logo Genes that share ontologies with CBARP: view
genes like me logo Genes that share phenotypes with CBARP: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CBARP Gene

Localization for CBARP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBARP Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type III membrane protein. Cell membrane; Single-pass type III membrane protein. Cell projection, growth cone.

Gene Ontology (GO) - Cellular Components for CBARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0030141 secretory granule IEA,ISS --
genes like me logo Genes that share ontologies with CBARP: view

No data available for Subcellular locations from COMPARTMENTS for CBARP Gene

Pathways & Interactions for CBARP Gene

SuperPathways for CBARP Gene

No Data Available

Interacting Proteins for CBARP Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000215376%0d%0a9606.ENSP00000265094%0d%0a
Selected Interacting proteins: Q8N350-CBARP_HUMAN ENSP00000215376 for CBARP Gene via IID STRING

Gene Ontology (GO) - Biological Process for CBARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045955 negative regulation of calcium ion-dependent exocytosis IEA,ISS --
GO:1901386 negative regulation of voltage-gated calcium channel activity IEA,ISS --
GO:1903170 negative regulation of calcium ion transmembrane transport IEA,ISS --
genes like me logo Genes that share ontologies with CBARP: view

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

Transcripts for CBARP Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CBARP Gene

GeneLoc Exon Structure for
CBARP
ECgene alternative splicing isoforms for
CBARP

Expression for CBARP Gene

NURSA nuclear receptor signaling pathways regulating expression of CBARP Gene:

CBARP
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CBARP Gene

Orthologs for CBARP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBARP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf26 34
  • 98.07 (n)
C19orf26 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dos 35
  • 47 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C19orf26 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf26 35
  • 42 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C19orf26 35
  • 39 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C19orf26 35
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C19orf26 35
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C22H19orf26 (1 of 2) 35
  • 29 (a)
OneToMany
C22H19orf26 (2 of 2) 35
  • 10 (a)
OneToMany
Species where no ortholog for CBARP 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBARP Gene

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

Paralogs for CBARP Gene

No data available for Paralogs for CBARP Gene

Variants for CBARP Gene

Sequence variations from dbSNP and Humsavar for CBARP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10414700 -- 1,234,189(+) CCCTC(A/G)CCGAG utr-variant-3-prime, splice-donor-variant
rs10415095 -- 1,228,192(+) CACCC(C/T)GCTTT downstream-variant-500B, utr-variant-3-prime
rs111264919 -- 1,237,405(+) CCTGG(A/G)GGAGG intron-variant, upstream-variant-2KB
rs111317337 -- 1,229,506(+) GCCAG(A/G)GCCGG downstream-variant-500B, reference, synonymous-codon
rs111345780 -- 1,237,351(+) ATGGT(A/G)ACCGG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv136n111 CNV deletion 26073780
dgv6196n54 CNV loss 21841781
esv2758743 CNV gain+loss 17122850
nsv1058677 CNV loss 25217958
nsv1060536 CNV gain 25217958
nsv1071886 CNV deletion 25765185
nsv1143897 CNV deletion 24896259
nsv1160555 CNV deletion 26073780
nsv470103 CNV gain 18288195
nsv470104 CNV loss 18288195
nsv578268 CNV loss 21841781
nsv578272 CNV loss 21841781
nsv828368 CNV gain 20364138
nsv953941 CNV deletion 24416366
nsv9662 CNV gain 18304495

Variation tolerance for CBARP Gene

Residual Variation Intolerance Score: 47.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBARP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBARP

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

Disorders for CBARP Gene

MalaCards: The human disease database

(4) MalaCards diseases for CBARP Gene - From: DISEASES

Disorder Aliases PubMed IDs
meibomian cyst
  • chalazion
morgagni cataract
  • hypermature cataract
miller-dieker lissencephaly syndrome
  • mds
alternating hemiplegia of childhood
  • ahc
- elite association - COSMIC cancer census association via MalaCards
Search CBARP in MalaCards View complete list of genes associated with diseases

Relevant External Links for CBARP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBARP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBARP
genes like me logo Genes that share disorders with CBARP: view

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

Publications for CBARP Gene

  1. BARP suppresses voltage-gated calcium channel activity and Ca2+-evoked exocytosis. (PMID: 24751537) BAcguin P. … Hunziker W. (J. Cell Biol. 2014) 2 3 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
  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 64
  5. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3 64

Products for CBARP Gene

Sources for CBARP Gene

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