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Aliases for BVES Gene

Aliases for BVES Gene

  • Blood Vessel Epicardial Substance 2 3 5
  • Popeye Domain-Containing Protein 1 3 4
  • POPDC1 3 4
  • HBVES 3 4
  • POP1 3 4
  • Popeye Domain Containing 1 2
  • Popeye Protein 1 4
  • LGMD2X 3

External Ids for BVES Gene

Previous GeneCards Identifiers for BVES Gene

  • GC06M105408
  • GC06M105571
  • GC06M105594
  • GC06M105652
  • GC06M102987

Summaries for BVES Gene

Entrez Gene Summary for BVES Gene

  • This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for BVES Gene

BVES (Blood Vessel Epicardial Substance) is a Protein Coding gene. Diseases associated with BVES include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2X and Tetralogy Of Fallot. Among its related pathways are Tight junction. GO annotations related to this gene include structural molecule activity and cAMP binding. An important paralog of this gene is POPDC2.

UniProtKB/Swiss-Prot for BVES Gene

  • Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury.

Gene Wiki entry for BVES Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BVES Gene

Genomics for BVES Gene

Regulatory Elements for BVES Gene

Enhancers for BVES 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
GH06G105160 1.4 FANTOM5 ENCODE dbSUPER 23.6 -28.4 -28387 10.3 PKNOX1 SIN3A ZBTB40 ZNF766 FOS ZEB2 ZNF592 ZNF589 MAFF SMARCA4 BVES POPDC3 PREP GC06M105161
GH06G105136 0.9 ENCODE 21.2 +0.2 162 2.0 SIN3A ZNF2 GLIS2 ZNF391 EGR2 ZNF263 ZNF202 SP3 ZNF398 KLF16 BVES POPDC3 PREP BVES-AS1
GH06G105176 0.9 ENCODE dbSUPER 20.1 -39.4 -39445 0.7 ATF1 L3MBTL2 NFYA NRF1 ZNF384 REST POLR2H FOXM1 POLR2A NFYB BVES POPDC3 GC06M105161
GH06G105177 1.4 Ensembl ENCODE dbSUPER 8.1 -42.0 -41988 3.7 ZSCAN4 ZNF76 ZBTB40 GLIS2 SCRT2 FOS IKZF2 JUNB REST ZEB2 POPDC3 BVES GC06M105161
GH06G105174 0.7 ENCODE dbSUPER 11.8 -37.5 -37465 0.7 JUND FOS BVES POPDC3 GC06M105161
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BVES on UCSC Golden Path with GeneCards custom track

Promoters for BVES Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200404 273 2199 SIN3A ZNF2 RAD21 GLIS2 ZNF391 EGR2 ZNF263 ZNF202 SP3 ZNF398

Genomic Location for BVES Gene

Chromosome:
6
Start:
105,096,822 bp from pter
End:
105,137,174 bp from pter
Size:
40,353 bases
Orientation:
Minus strand

Genomic View for BVES Gene

Genes around BVES on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BVES Gene

Proteins for BVES Gene

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

    Protein Symbol:
    Q8NE79-POPD1_HUMAN
    Recommended name:
    Blood vessel epicardial substance
    Protein Accession:
    Q8NE79
    Secondary Accessions:
    • A8K1R4
    • E1P5D8
    • Q5T550
    • Q5T551
    • Q8IWC6
    • Q9HBV0
    • Q9UNG6

    Protein attributes for BVES Gene

    Size:
    360 amino acids
    Molecular mass:
    41451 Da
    Quaternary structure:
    • Homodimer. Homodimerization requires the C-terminus cytoplasmic region. Interacts (via the C-terminus cytoplasmic tail) with TJP1. Interacts (via the C-terminus cytoplasmic tail) with ARHGEF25/GEFT (via the DH domain). Interacts (via the C-terminus cytoplasmic tail) with VAMP3 (By similarity). Interacts with KCNK2; the interaction enhances KCNK2 surface expression and is inhibited by cAMP (By similarity) (PubMed:26642364). Interacts with CAV3 (By similarity).

neXtProt entry for BVES Gene

Post-translational modifications for BVES Gene

  • Glycosylation at posLast=22 and Asn30
  • Modification sites at PhosphoSitePlus

Other Protein References for BVES Gene

Antibody Products

  • Abcam antibodies for BVES

No data available for DME Specific Peptides for BVES Gene

Domains & Families for BVES Gene

Protein Domains for BVES Gene

Suggested Antigen Peptide Sequences for BVES Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NE79

UniProtKB/Swiss-Prot:

POPD1_HUMAN :
  • Belongs to the popeye family.
Family:
  • Belongs to the popeye family.
genes like me logo Genes that share domains with BVES: view

No data available for Gene Families for BVES Gene

Function for BVES Gene

Molecular function for BVES Gene

GENATLAS Biochemistry:
mouse Bves homolog,expressed in developing and adult heart and skeletal muscle
UniProtKB/Swiss-Prot Function:
Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury.

Gene Ontology (GO) - Molecular Function for BVES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 16188940
GO:0005515 protein binding IPI 26642364
GO:0030552 cAMP binding IEA --
genes like me logo Genes that share ontologies with BVES: view
genes like me logo Genes that share phenotypes with BVES: view

Animal Models for BVES Gene

MGI Knock Outs for BVES:

Animal Model Products

CRISPR Products

miRNA for BVES Gene

miRTarBase miRNAs that target BVES

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BVES Gene

Localization for BVES Gene

Subcellular locations from UniProtKB/Swiss-Prot for BVES Gene

Lateral cell membrane. Cell junction, tight junction. Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma. Membrane, caveola. Note=Colocalizes with VAMP3 at the cell-cell contact in cardiac and skeletal muscle (By similarity). Its movement from the cytoplasm to membrane is an early event occurring concurrently with cell-cell contact. Colocalizes in epithelial cells with OCLN and TJP1 in an apical-lateral position within the z axis. Detected at cell-cell contact but never observed at the free surface of epithelial cells. {ECO:0000250 UniProtKB:Q9ES83}.

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 BVES gene
Compartment Confidence
plasma membrane 5
peroxisome 2
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for BVES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0005901 caveola ISS --
GO:0005923 bicellular tight junction IDA,IEA 16188940
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10441744
genes like me logo Genes that share ontologies with BVES: view

Pathways & Interactions for BVES Gene

SuperPathway Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with BVES: view

Pathways by source for BVES Gene

1 KEGG pathway for BVES Gene

Gene Ontology (GO) - Biological Process for BVES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling ISS --
GO:0002027 regulation of heart rate IEA --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0002931 response to ischemia ISS --
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with BVES: view

No data available for SIGNOR curated interactions for BVES Gene

Transcripts for BVES Gene

Unigene Clusters for BVES Gene

Blood vessel epicardial substance:
Representative Sequences:

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

No ASD Table

Relevant External Links for BVES Gene

GeneLoc Exon Structure for
BVES
ECgene alternative splicing isoforms for
BVES

Expression for BVES Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BVES Gene

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

This gene is overexpressed in Muscle - Skeletal (x8.5) and Heart - Left Ventricle (x6.4).

Protein differential expression in normal tissues from HIPED for BVES Gene

This gene is overexpressed in Fetal heart (31.9) and Liver (29.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BVES Gene



NURSA nuclear receptor signaling pathways regulating expression of BVES Gene:

BVES

SOURCE GeneReport for Unigene cluster for BVES Gene:

Hs.221660

mRNA Expression by UniProt/SwissProt for BVES Gene:

Q8NE79-POPD1_HUMAN
Tissue specificity: Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle.

Evidence on tissue expression from TISSUES for BVES Gene

  • Lung(4.1)
  • Heart(2.6)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with BVES: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BVES Gene

Orthologs for BVES Gene

This gene was present in the common ancestor of animals.

Orthologs for BVES Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BVES 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia BVES 34 35
  • 92.78 (n)
cow
(Bos Taurus)
Mammalia BVES 34 35
  • 90.09 (n)
mouse
(Mus musculus)
Mammalia Bves 34 16 35
  • 85.1 (n)
rat
(Rattus norvegicus)
Mammalia Bves 34
  • 83.52 (n)
oppossum
(Monodelphis domestica)
Mammalia BVES 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BVES 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves BVES 34 35
  • 76.06 (n)
lizard
(Anolis carolinensis)
Reptilia BVES 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bves 34
  • 71.39 (n)
Str.19588 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398323 34
zebrafish
(Danio rerio)
Actinopterygii bves 34 35
  • 64.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta bves 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for BVES was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for BVES Gene

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

Paralogs for BVES Gene

Paralogs for BVES Gene

(2) SIMAP similar genes for BVES Gene using alignment to 1 proteins:

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

Variants for BVES Gene

Sequence variations from dbSNP and Humsavar for BVES Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs869025337 Pathogenic, Limb-girdle muscular dystrophy 2X (LGMD2X) [MIM:616812] 105,124,593(-) AGATT(C/T)TCCTG reference, missense
rs1000038949 -- 105,101,744(+) GAAAG(A/G)CCAGG intron-variant
rs1000050551 -- 105,138,565(+) GTTTC(C/T)TTCTA intron-variant, upstream-variant-2KB
rs1000062331 -- 105,123,767(+) AACTT(C/T)GTTCT intron-variant
rs1000113547 -- 105,116,102(+) TCCAG(A/G)TAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv216e55 CNV gain 17911159
dgv3356n106 CNV deletion 24896259
esv1920969 CNV deletion 18987734
esv2614469 CNV deletion 19546169
esv2732533 CNV deletion 23290073
esv2759461 CNV gain 17122850
esv3540255 CNV deletion 23714750
esv3610250 CNV gain 21293372
esv3610251 CNV gain 21293372
esv3772 CNV loss 18987735
esv6261 CNV loss 19470904
esv993961 CNV deletion 20482838
nsv1074421 CNV deletion 25765185
nsv1150456 CNV deletion 26484159
nsv7950 CNV gain 18304495
nsv818450 CNV gain 17921354
nsv830754 CNV gain 17160897
nsv956931 CNV deletion 24416366

Variation tolerance for BVES Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BVES Gene

Human Gene Mutation Database (HGMD)
BVES
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BVES

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

Disorders for BVES Gene

MalaCards: The human disease database

(2) MalaCards diseases for BVES Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive limb-girdle muscular dystrophy type 2x
  • lgmd2x
tetralogy of fallot
  • tetrology of fallot
- elite association - COSMIC cancer census association via MalaCards
Search BVES in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POPD1_HUMAN
  • Limb-girdle muscular dystrophy 2X (LGMD2X) [MIM:616812]: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2X patients also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life. {ECO:0000269 PubMed:26642364}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BVES

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

No data available for Genatlas for BVES Gene

Publications for BVES Gene

  1. Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart. (PMID: 10882522) Andree B. … Brand T. (Dev. Biol. 2000) 2 3 4 22 64
  2. Cloning and expression of hbves, a novel and highly conserved mRNA expressed in the developing and adult heart and skeletal muscle in the human. (PMID: 10441744) Reese D.E. … Bader D.M. (Mamm. Genome 1999) 2 3 4 64
  3. POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking. (PMID: 26642364) Schindler R.F. … Ferlini A. (J. Clin. Invest. 2016) 3 4 64
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  5. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. (PMID: 19448622) Sulem P. … Stefansson K. (Nat. Genet. 2009) 3 46 64

Products for BVES Gene

Sources for BVES Gene

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