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, Type 2X and Muscular Dystrophy. 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 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
- Monarch Initiative
- Search for BVES at DataMed
- Search for BVES at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06J105135 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE | 671.3 | +0.3 | 273 | 2.2 | SIN3A ZNF2 ZNF335 GLIS2 EGR2 ZNF202 SP3 ZNF398 KLF16 GLIS1 | BVES BVES-AS1 POPDC3 PREP | |
| GH06J105136 | Enhancer | 0.7 | Ensembl ENCODE | 650.7 | +1.9 | 1893 | 0.5 | CTCF FOXA2 CUX1 PRDM1 SP7 ZBTB20 ZBTB17 | BVES-AS1 BVES POPDC3 PREP GC06P105082 | |
| GH06J105176 | Promoter/Enhancer | 1.3 | EPDnew ENCODE dbSUPER | 20.1 | -39.4 | -39431 | 0.7 | MEIS2 SRF ATF1 NRF1 ZNF384 REST E4F1 POLR2A NFYB ZNF350 | POPDC3 BVES GC06M105161 | |
| GH06J105160 | Enhancer | 1.1 | FANTOM5 ENCODE dbSUPER | 23.6 | -28.4 | -28386 | 10.3 | PKNOX1 ZBTB21 ZBTB40 ZNF316 POLR2A PRDM10 ATF7 FOS ZNF600 MAFK | GC06M105161 BVES POPDC3 PREP BVES-AS1 | |
| GH06J105177 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 8.1 | -42.0 | -41988 | 3.7 | ZSCAN4 MZF1 ZNF335 GLIS2 SCRT2 FOS ZBTB11 ZNF398 REST ZEB2 | POPDC3 BVES GC06M105161 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BVES on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for BVES Gene
Genes around BVES on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q21 by Entrez Gene
- 6q21 by HGNC
- 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
- R&D Systems Antibodies for BVES (BVES)
-
Custom Antibody ServicesOriGene Antibodies for BVES
- Novus Biologicals Antibodies for BVES
- Invitrogen Antibodies for BVES
- antibodies-online: Search results for available BVES related products ranked by validation data
- GeneTex BVES Antibody 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: Search results for 7 available BVES Proteins ranked by validation data
- Compare Top BVES Proteins
-
Quality Products:
- Search GeneTex for Proteins for BVES
Assay Products
- antibodies-online: Search results for available BVES related products ranked by validation data
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:
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:0005198 | structural molecule activity | IDA | 16188940 |
| GO:0005515 | protein binding | IPI | 26642364 |
| GO:0030552 | cAMP binding | IEA | -- |
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for BVES
-
CRISPR Products
-
OriGene CRISPR knockouts for BVES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BVES
- genomics-online: gRNA clones - Search results for available BVES gene related products
- Applied Biological Materials CRISPR for BVES
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BVES
- GenScript: Design CRISPR guide RNA sequences 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 sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available BVES gene related products
Clone Products
- Sino Biological Human cDNA Clone for BVES
- VectorBuilder custom plasmid, inducible vectors for BVES
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BVES
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BVES
- genomics-online: cdna clones - Search results for available BVES gene related products
- orf clones - Search results for available BVES gene related products
- Applied Biological Materials Clones for BVES
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| peroxisome | 2 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 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,IEA | -- |
| 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 | -- |
No data available for SIGNOR curated interactions for BVES Gene
Transcripts for BVES Gene
mRNA/cDNA for BVES Gene
- (59) Selected AceView cDNA sequences:
- (4) Additional mRNA sequences :
- (4) REFSEQ mRNAs :
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000314641 5567 bps (uc003pqy.4)
- ENST00000336775 1663 bps (uc003pqx.4)
- ENST00000446408 1500 bps (uc003pqw.4)
Unigene Clusters for BVES Gene
- Blood vessel epicardial substance:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for BVES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BVES
- genomics-online: gRNA clones - Search results for available BVES gene related products
- Applied Biological Materials CRISPR for BVES
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BVES
- GenScript: Design CRISPR guide RNA sequences for BVES
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available BVES gene related products
Clone Products
- Sino Biological Human cDNA Clone for BVES
- VectorBuilder custom plasmid, inducible vectors for BVES
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BVES
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BVES
- genomics-online: cdna clones - Search results for available BVES gene related products
- orf clones - Search results for available BVES gene related products
- Applied Biological Materials Clones for BVES
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of BVES Gene:
BVESSOURCE 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(4.1)
- Heart(2.6)
- Muscle(2.6)
Primer Products
-
OriGene qPCR primer pairs and template standards for BVES
-
OriGene qPCR primer pairs for BVES
- genomics-online: primer clones - Search results for available BVES gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BVES 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BVES 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bves 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bves 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BVES 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | BVES 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BVES 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BVES 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bves 33 |
|
||
| Str.19588 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398323 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | bves 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | bves 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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
Variants for BVES Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs869025337 | pathogenic, Muscular dystrophy, limb-girdle, type 2X, Limb-girdle muscular dystrophy 2X (LGMD2X) [MIM:616812] | 105,124,593(-) | G/A/C | coding_sequence_variant, missense_variant | |
| rs759745220 | likely-pathogenic, not provided | 105,116,783(-) | AAGAAAG/AAG | coding_sequence_variant, frameshift | |
| rs1000038949 | -- | 105,101,744(-) | G/A | intron_variant | |
| rs1000050551 | -- | 105,138,565(-) | T/C | upstream_transcript_variant | |
| rs1000062331 | -- | 105,123,767(-) | C/T | intron_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
(3) MalaCards diseases for BVES Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy, limb-girdle, type 2x |
|
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| muscular dystrophy |
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| tetralogy of fallot |
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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.
Additional Disease Information for BVES
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
- 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 58
- 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 58
- 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 44 58
- Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. (PMID: 19448622) Sulem P … Stefansson K (Nature genetics 2009) 3 44 58
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- antibodies-online: Search results for available BVES related products ranked by validation data
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