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This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
BEND2 (BEN Domain Containing 2) is a Protein Coding gene. Diseases associated with BEND2 include Astroblastoma. An important paralog of this gene is SELENON.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ018220 | Promoter | 0.3 | EPDnew | 600.7 | -0.1 | -53 | 0.1 | BEND2 lnc-BEND2-3 SCML2 | ||
GH0XJ018353 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 0.1 | -133.6 | -133597 | 2.6 | RNF2 ZIC2 RBFOX2 POLR2A PATZ1 NR2C1 CTCF YY1 SOX6 GATAD2B | SCML2 lnc-CDKL5-1 RF00017-8189 RF00017-8188 BEND2 | |
GH0XJ018212 | Enhancer | 0.3 | Ensembl | 0.4 | +8.2 | 8203 | 1 | SPI1 | RF00017-8186 BEND2 RAI2 | |
GH0XJ018098 | Enhancer | 0.8 | ENCODE | 0.1 | +121.4 | 121375 | 1.5 | CREB1 ZNF629 TARDBP ZIC2 GTF2F1 ZNF341 ATF7 ARNT HES1 ZBTB20 | LINC01456 piR-52368-174 piR-33422-465 BEND2 RAI2 | |
GH0XJ018103 | Promoter | 0.7 | EPDnew Ensembl | 0.1 | +116.8 | 116803 | 1.8 | LINC01456 piR-52368-174 piR-57176-670 SCML1 piR-33422-465 BEND2 RAI2 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | |||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BEND2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BEND2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BEND2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BEND2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BEND2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BEND2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | BEND2 (1 of 2) 31 |
|
OneToMany | |
BEND2 (2 of 2) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
783905 | Benign: not provided | 18,165,057(-) | C/T | SYNONYMOUS_VARIANT | |
783906 | Benign: not provided | 18,203,626(-) | A/C | MISSENSE_VARIANT | |
783907 | Benign: not provided | 18,203,860(-) | C/A | MISSENSE_VARIANT | |
786703 | Benign: not provided | 18,175,985(-) | C/A | MISSENSE_VARIANT | |
786704 | Benign: not provided | 18,203,814(-) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2230e212 | CNV | loss | 25503493 |
dgv2231e212 | CNV | gain | 25503493 |
esv3573621 | CNV | loss | 25503493 |
esv3573622 | CNV | loss | 25503493 |
esv3573624 | CNV | loss | 25503493 |
nsv510818 | CNV | deletion | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
astroblastoma |
|
|