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 tr... See more...

Aliases for BVES Gene

Aliases for BVES Gene

  • Blood Vessel Epicardial Substance 2 3 4 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
  • LGMDR25 3
  • CARICK 3
  • 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 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2X. Among its related pathways are Tight junction. Gene Ontology (GO) annotations related to this gene include structural molecule activity and cAMP binding. An important paralog of this gene is POPDC2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for BVES Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BVES Gene

Genomics for BVES Gene

GeneHancer (GH) Regulatory Elements for BVES Gene

Promoters and enhancers for BVES 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
GH06J105136 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 521.2 +0.7 673 3.4 PHF8 ZNF639 ZIC2 ZNF423 ZBTB26 CUX1 CTCF POLR2A SMC3 ZBTB17 BVES BVES-AS1 POPDC3 PREP
GH06J105160 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 23.6 -28.4 -28441 10.4 TRIM28 RFX1 ATF2 MXI1 ZNF316 ZBTB17 TCF7L2 MAFF FOS MAFK BVES POPDC3 PREP lnc-POPDC3-1 RF00017-5690 BVES-AS1
GH06J105176 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 20.1 -39.4 -39431 0.7 REST NFYB RBM25 SRF POLR2H FOXM1 PRDM10 MEIS2 ZBTB33 ATF1 POPDC3 RF00017-5690 BVES lnc-POPDC3-1
GH06J105177 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.1 -42.0 -41991 3.7 FOS POLR2A GABPA ZBTB26 ZNF341 ZNF316 ZBTB17 CTCF ZNF76 ZBTB11 POPDC3 lnc-POPDC3-1 BVES RF00017-5690
GH06J105174 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.9 -37.6 -37582 0.9 FOS POLR2A JUND STAT3 BVES RF00017-5690 POPDC3 lnc-POPDC3-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BVES on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BVES

Genomic Locations for BVES Gene

Genomic Locations for BVES Gene
chr6:105,096,822-105,137,174
(GRCh38/hg38)
Size:
40,353 bases
Orientation:
Minus strand
chr6:105,544,697-105,585,049
(GRCh37/hg19)
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 Asn2 and Asn30
  • Modification sites at PhosphoSitePlus

Other Protein References for BVES Gene

No data available for DME Specific Peptides for BVES Gene

Domains & Families for BVES Gene

Gene Families for BVES Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for BVES Gene

Suggested Antigen Peptide Sequences for BVES Gene

GenScript: Design optimal peptide antigens:
  • Popeye domain-containing protein 1 (POPD1_HUMAN)

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

Function for BVES Gene

Molecular function for BVES Gene

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.
GENATLAS Biochemistry:
mouse Bves homolog,expressed in developing and adult heart and skeletal muscle

Phenotypes From GWAS Catalog for BVES Gene

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 IBA 21873635
genes like me logo Genes that share ontologies with BVES: view
genes like me logo Genes that share phenotypes with BVES: view

Human Phenotype Ontology for BVES Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BVES Gene

MGI Knock Outs for BVES:
  • Bves Bves<tm1Tbd>
  • Bves Bves<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for BVES Gene

miRTarBase miRNAs that target BVES

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BVES

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
See all subcellular structures

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 IBA 21873635
GO:0016021 integral component of membrane NAS 10441744
genes like me logo Genes that share ontologies with BVES: view

Pathways & Interactions for BVES Gene

PathCards logo

SuperPathways 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

SIGNOR curated interactions for BVES Gene

Activates:

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

Drugs & Compounds for BVES Gene

No Compound Related Data Available

Transcripts for BVES Gene

mRNA/cDNA for BVES Gene

3 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BVES

Clone Products

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

No ASD Table

Relevant External Links for BVES Gene

GeneLoc Exon Structure for
BVES

Expression for BVES Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BVES 31 30
  • 92.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BVES 31 30
  • 90.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bves 17 31 30
  • 85.1 (n)
rat
(Rattus norvegicus)
Mammalia Bves 30
  • 83.52 (n)
oppossum
(Monodelphis domestica)
Mammalia BVES 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BVES 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves BVES 31 30
  • 76.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BVES 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bves 30
  • 71.39 (n)
Str.19588 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398323 30
zebrafish
(Danio rerio)
Actinopterygii bves 31 30
  • 64.56 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bves 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BVES: view image

Paralogs for BVES Gene

Paralogs for BVES Gene

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

  • POPD1_HUMAN
genes like me logo Genes that share paralogs with BVES: view

Variants for BVES Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BVES Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
719099 Benign: not provided 105,115,676(-) G/A INTRON_VARIANT
720950 Benign: not provided 105,133,535(-) T/C MISSENSE_VARIANT
731903 Likely Benign: not provided 105,124,621(-) T/C MISSENSE_VARIANT
776144 Benign: not provided 105,116,809(-) T/G SYNONYMOUS_VARIANT
778247 Benign: not provided 105,125,545(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BVES Gene

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)

Additional Variant Information for BVES Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BVES Gene

MalaCards: The human disease database

(6) MalaCards diseases for BVES Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, autosomal recessive 25
  • lgmdr25
autosomal recessive limb-girdle muscular dystrophy type 2x
  • muscular dystrophy, limb-girdle, type 2x
muscular dystrophy
  • muscular dystrophies
autosomal recessive limb-girdle muscular dystrophy type 2w
  • muscular dystrophy, limb-girdle, type 2w
tetralogy of fallot
  • tof
- 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
  • Muscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25) [MIM:616812]: An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise. {ECO:0000269 PubMed:26642364}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BVES

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Andrée B … Brand T (Developmental biology 2000) 2 3 4 23 54
  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 DE … Bader DM (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3 4 54
  3. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. (PMID: 26642364) Schindler RF … Ferlini A (The Journal of clinical investigation 2016) 3 4 54
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 41 54
  5. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. (PMID: 19448622) Sulem P … Stefansson K (Nature genetics 2009) 3 41 54

Products for BVES Gene

Sources for BVES Gene