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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
External Ids for BVES Gene
- HGNC: 1152
- Entrez Gene: 11149
- Ensembl: ENSG00000112276
- OMIM: 604577
- UniProtKB: Q8NE79
Previous GeneCards Identifiers for BVES Gene
- GC06M105408
- GC06M105571
- GC06M105594
- GC06M105652
- GC06M102987
Summaries 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.
Additional gene information for BVES Gene
- HGNC(1152)
- Entrez Gene(11149)
- Ensembl(ENSG00000112276)
- OMIM(604577)
- UniProtKB(Q8NE79)
- Open Targets Platform(ENSG00000112276)
- Monarch Initiative
- Search for BVES at DataMed
- Search for BVES at HumanCyc
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 Pubs
Promoters and enhancers for BVES Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BVES
Genomic Locations for BVES Gene
Genomic Locations for BVES Gene
- chr6:105,096,822-105,137,157
- (GRCh38/hg38)
- Size:
- 40,336 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:
-
- 6q21 by HGNC
- 6q21 by Entrez Gene
- 6q21 by Ensembl
BVES 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 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
- 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).
Protein Expression for BVES Gene
Post-translational modifications for BVES Gene
Other Protein References for BVES Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ BVES Antibody
-
Custom Antibody ServicesOriGene Antibodies for BVES
- Novus Biologicals Antibodies for BVES
-
Abcam antibodies for BVES
- Invitrogen Antibodies for BVES (AFLGC-BVES)
-
Biorbyt antibodies for BVES
-
Boster Bio Antibodies for BVES
-
Santa Cruz Biotechnology (SCBT) Antibodies for BVES
- Sino Biological Antibodies for BVES
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for BVES
- Origene Custom Protein Services for BVES
- Novus Biologicals proteins for BVES
- Sino Biological Recombinant Proteins for BVES
- Browse Sino Biological Cell Lysates
- antibodies-online: Show 7 available BVES Proteins ranked by validation data
- Compare Top BVES Proteins
-
Quality Products:
-
Abcam proteins for BVES
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the popeye family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005198 | structural molecule activity | IDA | 16188940 |
| GO:0005515 | protein binding | IPI | 26642364 |
| GO:0030552 | cAMP binding | IBA | 21873635 |
Phenotypes for BVES Gene
- MGI mutant phenotypes for BVES:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BVES:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BVES - Select products 50% OFF >
- * BVES CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BVES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BVES
-
Santa Cruz Biotechnology (SCBT) CRISPR for BVES
miRNA for BVES Gene
- miRTarBase miRNAs that target BVES
-
- hsa-miR-615-3p (MIRT016150)
- hsa-miR-124-3p (MIRT022303)
- hsa-miR-18a-5p (MIRT050715)
- hsa-miR-383-3p (MIRT238704)
- hsa-miR-1277-5p (MIRT504520)
- hsa-miR-297 (MIRT504521)
- hsa-miR-3924 (MIRT504522)
- hsa-miR-190a-3p (MIRT504523)
- hsa-miR-567 (MIRT504524)
- hsa-miR-511-3p (MIRT504525)
- hsa-miR-5011-5p (MIRT504526)
- hsa-miR-4528 (MIRT509775)
- hsa-miR-6867-5p (MIRT509776)
- hsa-miR-223-5p (MIRT509777)
- hsa-miR-574-5p (MIRT517891)
- hsa-miR-3613-3p (MIRT544921)
- hsa-miR-6780a-5p (MIRT670621)
- hsa-miR-6779-5p (MIRT670622)
- hsa-miR-3689c (MIRT670623)
- hsa-miR-3689b-3p (MIRT670624)
- hsa-miR-3689a-3p (MIRT670625)
- hsa-miR-30b-3p (MIRT670626)
- hsa-miR-1273h-5p (MIRT670627)
- hsa-miR-4314 (MIRT670628)
- hsa-miR-7977 (MIRT670629)
- hsa-miR-1295a (MIRT670630)
- hsa-miR-3178 (MIRT670631)
- hsa-miR-6799-5p (MIRT670632)
- hsa-miR-6883-5p (MIRT670633)
- hsa-miR-6785-5p (MIRT670634)
- hsa-miR-4728-5p (MIRT670635)
- hsa-miR-149-3p (MIRT670636)
- hsa-miR-7106-5p (MIRT670637)
- hsa-miR-24-3p (MIRT670638)
- hsa-miR-4284 (MIRT670639)
- hsa-miR-6506-5p (MIRT670640)
- hsa-miR-619-5p (MIRT670641)
- hsa-miR-3192-5p (MIRT670642)
- hsa-miR-4646-5p (MIRT670643)
- hsa-miR-204-3p (MIRT670644)
- hsa-miR-330-5p (MIRT670645)
- hsa-miR-326 (MIRT670646)
- hsa-miR-6499-5p (MIRT670647)
- hsa-miR-514a-5p (MIRT670648)
- hsa-miR-6505-5p (MIRT681492)
- hsa-miR-3688-3p (MIRT681493)
- hsa-miR-8076 (MIRT681494)
- hsa-miR-665 (MIRT694765)
- hsa-miR-510-5p (MIRT694766)
- hsa-miR-6771-5p (MIRT694767)
- hsa-miR-5192 (MIRT694768)
- hsa-miR-7160-5p (MIRT694769)
- hsa-miR-4722-5p (MIRT694770)
- hsa-miR-6884-5p (MIRT694771)
- hsa-miR-485-5p (MIRT694772)
- hsa-miR-1827 (MIRT694773)
- hsa-miR-4693-3p (MIRT694774)
- hsa-miR-4649-3p (MIRT694775)
- hsa-miR-6746-5p (MIRT694776)
- hsa-miR-4768-3p (MIRT694777)
- hsa-miR-5690 (MIRT694778)
- hsa-miR-2114-5p (MIRT694779)
- hsa-miR-5588-3p (MIRT694780)
- hsa-miR-940 (MIRT694781)
- hsa-miR-6893-5p (MIRT694782)
- hsa-miR-6808-5p (MIRT694783)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BVES
- Browse OriGene Inhibitory RNA Products For BVES
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BVES
Clone Products
- Applied Biological Materials (abm): Clones for BVES - Select products 50% OFF >
- * BVES as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BVES
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BVES
Cell Line Products
-
Horizon Cell Lines for BVES
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cell Junctions (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | ISS | -- |
| GO:0005901 | caveola | ISS | -- |
| GO:0005923 | bicellular tight junction | IEA,IDA | 16188940 |
| GO:0016020 | membrane | IBA | 21873635 |
| GO:0016021 | integral component of membrane | NAS | 10441744 |
Pathways & Interactions for BVES Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Tight junction | ||
Pathways by source for BVES Gene
1 KEGG pathway for BVES Gene
Interacting Proteins for BVES Gene
GPS-Prot Interaction Network for BVES
| 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 | -- |
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 :
-
- ENST00000314641 5550 nts (view in UCSC)
- ENST00000336775 1663 nts (view in UCSC)
- ENST00000446408 1500 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BVES - Select products 50% OFF >
- * BVES CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BVES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BVES
-
Santa Cruz Biotechnology (SCBT) CRISPR for BVES
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BVES
- Browse OriGene Inhibitory RNA Products For BVES
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BVES
Clone Products
- Applied Biological Materials (abm): Clones for BVES - Select products 50% OFF >
- * BVES as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BVES
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BVES
Relevant External Links for BVES Gene
- GeneLoc Exon Structure for
- BVES
Expression for BVES Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Epicardial Progenitors Cells Epicardium
- Proepicardial Progenitor cells Proepicardium
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Proepicardial Progenitor cells Proepicardium
-
Skeletal Muscle (Muscoskeletal System)
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).
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.221660mRNA 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(4.2)
- Muscle(2.8)
- Heart(2.8)
Primer Products
-
OriGene qPCR primer pairs for BVES
-
OriGene qPCR primer pairs and template standards for BVES
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BVES 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BVES 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BVES 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bves 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bves 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | BVES 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BVES 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BVES 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BVES 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bves 30 |
|
||
| Str.19588 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398323 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | bves 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | bves 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for BVES was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BVES Gene
Disorders for BVES Gene
(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 |
|
|
| autosomal recessive limb-girdle muscular dystrophy type 2x |
|
|
| muscular dystrophy |
|
|
| autosomal recessive limb-girdle muscular dystrophy type 2w |
|
|
| tetralogy of fallot |
|
|
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
- Open Targets Platform
No data available for Genatlas for BVES Gene
Publications for BVES Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for BVES Gene
- Custom Antibody ServicesOriGene Antibodies for BVES
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for BVES
- Origene Custom Protein Services for BVES
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BVES
- Browse OriGene Inhibitory RNA Products For BVES
- OriGene qPCR primer pairs for BVES
- OriGene qPCR primer pairs and template standards for BVES
- OriGene CRISPR knockouts for BVES
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BVES
- Sino Biological Human cDNA Clone for BVES
- Sino Biological Recombinant Proteins for BVES
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for BVES
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for BVES
- Novus Biologicals proteins for BVES
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for BVES
- Abcam proteins for BVES
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for BVES (AFLGC-BVES)
- VectorBuilder Custom and pre-made DNA vectors for BVES (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for BVES (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for BVES (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for BVES CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BVES
- antibodies-online: Show 16 available BVES Antibodies ranked by validation data
- Compare Top BVES Antibodies
- antibodies-online: Search results for available BVES related products ranked by validation data
- antibodies-online: Show 7 available BVES Proteins ranked by validation data
- Compare Top BVES Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for BVES
- Search Santa Cruz Biotechnology (SCBT) for BVES siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BVES
- Horizon Cell Lines for BVES
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BVES
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BVES
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BVES
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BVES
- Boster Bio Antibodies for BVES
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for BVES
Sources for BVES Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB