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This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]
DIP2B (Disco Interacting Protein 2 Homolog B) is a Protein Coding gene. Diseases associated with DIP2B include Mental Retardation, Fra12a Type and 46,Xx Sex Reversal 3. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is DIP2C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 15531550 |
GO:0005737 | cytoplasm | IDA | 15531550 |
GO:0016020 | membrane | HDA | 19946888 |
GO:0070062 | extracellular exosome | HDA | 20458337 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008150 | biological_process | ND | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - |
ExUns: | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DIP2B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | DIP2B 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | DIP2B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dip2b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dip2b 30 |
|
||
Chicken (Gallus gallus) |
Aves | DIP2B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DIP2B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dip2b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | DIP2B (2 of 2) 31 |
|
OneToMany | |
dip2ba 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | DIP2 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F28B3.1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToMany | |
CMR2 33 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.49 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715520 | Benign: not provided | 50,732,429(+) | G/A | MISSENSE_VARIANT | |
722129 | Likely Benign: not provided | 50,697,134(+) | G/A | SYNONYMOUS_VARIANT | |
725615 | Likely Benign: not provided | 50,714,427(+) | T/C | SYNONYMOUS_VARIANT | |
726087 | Benign: not provided | 50,739,564(+) | C/T | SYNONYMOUS_VARIANT | |
731362 | Benign: not provided | 50,626,019(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2619n54 | CNV | loss | 21841781 |
dgv2620n54 | CNV | loss | 21841781 |
dgv2621n54 | CNV | loss | 21841781 |
dgv289n67 | CNV | loss | 20364138 |
esv1512829 | CNV | deletion | 17803354 |
esv2678706 | CNV | deletion | 23128226 |
esv2745873 | CNV | deletion | 23290073 |
esv27734 | CNV | loss | 19812545 |
esv3400 | CNV | loss | 18987735 |
esv3549195 | CNV | deletion | 23714750 |
esv3629484 | CNV | loss | 21293372 |
esv9262 | CNV | loss | 19470904 |
nsv1068680 | CNV | deletion | 25765185 |
nsv1069664 | CNV | deletion | 25765185 |
nsv1113481 | CNV | deletion | 24896259 |
nsv476740 | CNV | novel sequence insertion | 20440878 |
nsv558842 | CNV | loss | 21841781 |
nsv558850 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, fra12a type |
|
|
46,xx sex reversal 3 |
|
|