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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 transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tight junction |
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 | -- |
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 |
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 |
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 |
|
|