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
External Ids for CBARP Gene
- HGNC: 28617
- Entrez Gene: 255057
- Ensembl: ENSG00000099625
- UniProtKB: Q8N350
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 , CIViC 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CBARP on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 19p13.3 by Ensembl
- 19p13.3 by Entrez Gene
- 19p13.3 by HGNC
CBARP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Post-translational modifications for CBARP Gene
Other Protein References for CBARP Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CBARP
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-
Abcam antibodies for CBARP
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-
Santa Cruz Biotechnology (SCBT) Antibodies for CBARP
Protein Products
-
OriGene Purified Proteins for CBARP
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- Search GeneTex for Proteins for CBARP
Assay Products
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
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0044325 | ion channel binding | ISS | -- |
Phenotypes for CBARP Gene
- GenomeRNAi human phenotypes for CBARP:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for CBARP gene
-
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CRISPR Products
-
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miRNA Products
- Search ViGene Biosciences for CBARP
Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for CBARP gene
Clone Products
-
OriGene ORF clones in human for CBARP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- VectorBuilder custom plasmid, inducible vectors for CBARP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBARP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CBARP
-
ViGene Biosciences adenoviral particle packaged cDNA for CBARP gene
-
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-
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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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| 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 | -- |
Pathways & Interactions for CBARP Gene
No Data Available
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for CBARP Gene
Transcripts for CBARP Gene
mRNA/cDNA for CBARP Gene
- (9) REFSEQ mRNAs :
- (47) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for CBARP
- GenScript: Design CRISPR guide RNA sequences for CBARP
miRNA Products
- Search ViGene Biosciences for CBARP
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CBARP
- Browse OriGene Inhibitory RNA Products For CBARP
-
ViGene Biosciences ready-to-package AAV shRNAs for CBARP gene
Clone Products
-
OriGene ORF clones in human for CBARP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CBARP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBARP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for CBARP Gene
NURSA nuclear receptor signaling pathways regulating expression of CBARP Gene:
CBARPEvidence on tissue expression from TISSUES for CBARP Gene
- Nervous system(4.2)
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs and template standards for CBARP
-
OriGene qPCR primer pairs for CBARP
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C19H19orf26 34 |
|
||
| C19orf26 35 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Dos 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | C19orf26 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | C19orf26 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | C19orf26 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | C19orf26 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | C19orf26 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | C22H19orf26 (1 of 2) 35 |
|
OneToMany | |
| C22H19orf26 (2 of 2) 35 |
|
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)
Paralogs for CBARP Gene
No data available for Paralogs for CBARP Gene
Variants for CBARP Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs111773256 | Likely benign | 1,228,261(+) | GACCC(A/C)AGAGA | downstream-variant-500B, utr-variant-3-prime | |
| rs535975204 | Likely benign | 1,227,941(+) | CCCGC(A/C/G)GCAGA | nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime | |
| rs577030468 | Likely benign | 1,228,070(+) | TTTTT(A/T)AAGAA | nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime | |
| rs886054224 | Likely benign | 1,228,059(+) | TTTTT(-/CT)TTTTT | nc-transcript-variant, downstream-variant-500B, reference, utr-variant-3-prime, frameshift-variant | |
| rs886054226 | Likely benign | 1,228,419(+) | AAGCT(-/TGGGAAGCT)TGGAC | downstream-variant-500B, utr-variant-3-prime, cds-indel |
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| meibomian cyst |
|
|
| morgagni cataract |
|
|
| miller-dieker lissencephaly syndrome |
|
|
| alternating hemiplegia of childhood |
|
|
Search CBARP in MalaCards
View complete list of genes associated with diseases
Relevant External Links for CBARP
No data available for UniProtKB/Swiss-Prot and Genatlas for CBARP Gene
Publications for CBARP Gene
- BARP suppresses voltage-gated calcium channel activity and Ca2+-evoked exocytosis. (PMID: 24751537) BAcguin P. … Hunziker W. (J. Cell Biol. 2014) 2 3 64
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
- The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
- 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
- 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
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- Custom Antibody ServicesOriGene Antibodies for CBARP
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- ViGene Biosciences adenoviral particle packaged cDNA for CBARP gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for CBARP
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- Horizon Cell Lines for CBARP
- Cyagen custom Knockout/knockin (KOKI) mouse models for CBARP
- VectorBuilder custom plasmid, inducible vectors for CBARP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBARP
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CBARP Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer