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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 Morgagni Cataract and Miller-Dieker Lissencephaly Syndrome.

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.

Additional gene information for CBARP Gene

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

Genomics for CBARP Gene

GeneHancer (GH) Regulatory Elements for CBARP Gene

Promoters and enhancers for CBARP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.4 -15.1 -15096 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I001442 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 4.5 -202.7 -202693 3.5 HDGF PKNOX1 CLOCK ARNT SIN3A FEZF1 DMAP1 ZNF2 POLR2B ZNF213 APC2 SF3A2 C19orf24 DAZAP1 C19orf25 PCSK4 REEP6 SCAMP4 MUM1 CBARP
GH19I001231 Enhancer 1 Ensembl ENCODE 8.8 +9.2 9168 1.9 NFIB KLF17 ZNF2 ZEB1 GLIS2 SCRT2 ZNF398 PPARG NR2F2 ZFP69B SBNO2 TCF3 PTBP1 TMEM259 ENSG00000267317 STK11 LOC100288123 DAZAP1 GRIN3B MED16
GH19I001725 Enhancer 1.3 FANTOM5 Ensembl ENCODE 2.9 -484.1 -484118 1.2 ELF3 ZFP64 ZNF133 ARID4B ZNF48 ZBTB40 ZNF335 ZNF121 SMARCA5 NFYA ENSG00000275642 ONECUT3 ATP8B3 REXO1 RNU6-1223P TCF3 APC2 MUM1 CBARP GC19M001732
GH19I001667 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.8 -426.7 -426667 2.5 HDGF SMAD1 YBX1 GLI4 ZNF48 ZEB1 ZNF155 ZNF335 GLIS2 ZNF366 GC19P001669 SF3A2 TMEM259 CIRBP LOC100288123 DAZAP1 PTBP1 TCF3 RNU6-1223P ATP8B3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CBARP on UCSC Golden Path with GeneCards custom track

Genomic Locations for CBARP Gene

Genomic Locations for CBARP Gene
chr19:1,228,287-1,241,763
(GRCh38/hg38)
Size:
13,477 bases
Orientation:
Minus strand
chr19:1,228,286-1,238,026
(GRCh37/hg19)

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

No data available for DME Specific Peptides for CBARP Gene

Domains & Families for CBARP Gene

Gene Families for CBARP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 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 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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , 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.

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 CBARP gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytoskeleton 1
peroxisome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 ISS --
genes like me logo Genes that share ontologies with CBARP: view

Pathways & Interactions for CBARP Gene

SuperPathways for CBARP Gene

No Data Available

Interacting Proteins for CBARP Gene

Selected Interacting proteins: Q8N350-CBARP_HUMAN for CBARP Gene via IID

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 ISS --
GO:1901386 negative regulation of voltage-gated calcium channel activity ISS --
GO:1903170 negative regulation of calcium ion transmembrane transport 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

Drugs & Compounds for CBARP Gene

No Compound Related Data Available

Transcripts for CBARP Gene

Inhibitory RNA 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

Evidence on tissue expression from TISSUES for CBARP Gene

  • Nervous system(4.2)
No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 98.07 (n)
C19orf26 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dos 34
  • 47 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C19orf26 34
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf26 34
  • 42 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C19orf26 34
  • 39 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C19orf26 34
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C19orf26 34
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C22H19orf26 (1 of 2) 34
  • 29 (a)
OneToMany
C22H19orf26 (2 of 2) 34
  • 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 Variation AA Info Type
rs10415095 benign, Peutz-Jeghers syndrome 1,228,192(-) T/C downstream_transcript_variant
rs111773256 likely-benign, Peutz-Jeghers syndrome 1,228,261(-) C/A downstream_transcript_variant
rs142990629 likely-benign, Peutz-Jeghers syndrome 1,228,414(-) AAGCTTGGGAAGCTTGG/AAGCTTGG 3_prime_UTR_variant, genic_downstream_transcript_variant
rs532639857 uncertain-significance, Peutz-Jeghers syndrome 1,228,254(-) G/A downstream_transcript_variant
rs533940465 uncertain-significance, Peutz-Jeghers syndrome 1,227,989(-) C/A downstream_transcript_variant

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)

Additional Variant Information for CBARP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CBARP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
morgagni cataract
  • hypermature cataract
miller-dieker lissencephaly syndrome
  • mdls
meibomian cyst
  • chalazion
- elite association - COSMIC cancer census association via MalaCards
Search CBARP in MalaCards View complete list of genes associated with diseases
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) Béguin P … Hunziker W (The Journal of cell biology 2014) 2 3 58
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CBARP Gene

Sources for CBARP Gene

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