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This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]
VWC2 (Von Willebrand Factor C Domain Containing 2) is a Protein Coding gene. Diseases associated with VWC2 include Epilepsy, Familial Temporal Lobe, 4 and Spastic Paraplegia 20, Autosomal Recessive. An important paralog of this gene is VWC2L.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH07J049773 | Promoter/Enhancer | 1.4 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 618.5 | +1.1 | 1063 | 3.4 | BACH1 EZH2 ZSCAN29 SIN3A | VWC2 HSALNG0057928 piR-38051-256 SPATA48 | |
GH07J049778 | Enhancer | 0.5 | dbSUPER | 8.6 | +5.3 | 5336 | 0.9 | RUNX3 BCLAF1 BATF ATF2 SPI1 IKZF2 | VWC2 piR-38051-256 SPATA48 | |
GH07J049802 | Enhancer | 0.3 | dbSUPER | 11.8 | +30.1 | 30069 | 2.3 | SMARCA4 | VWC2 piR-38051-256 SPATA48 | |
GH07J049799 | Enhancer | 0.2 | dbSUPER | 11.6 | +26.8 | 26792 | 0.9 | VWC2 piR-38051-256 SPATA48 | ||
GH07J049797 | Enhancer | 0.2 | dbSUPER | 11.6 | +25.2 | 25240 | 1.8 | VWC2 CDC14C piR-38051-256 SPATA48 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005604 | basement membrane | IEA | -- |
GO:0005614 | interstitial matrix | IEA | -- |
GO:0005615 | extracellular space | IEA,ISS | 17400546 |
GO:0030054 | cell junction | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010811 | positive regulation of cell-substrate adhesion | IEA | -- |
GO:0030514 | negative regulation of BMP signaling pathway | ISS | 17400546 |
GO:0045666 | positive regulation of neuron differentiation | ISS | 17400546 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | VWC2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | VWC2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | VWC2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Vwc2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Vwc2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | VWC2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | VWC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | VWC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | VWC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | vwc2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | vwc2 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs769604 | - | p.Ala120Gly |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, familial temporal lobe, 4 |
|
|
spastic paraplegia 20, autosomal recessive |
|
|