Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]
DPF2 (Double PHD Fingers 2) is a Protein Coding gene. Diseases associated with DPF2 include Coffin-Siris Syndrome 7 and Coffin-Siris Syndrome 1. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is DPF1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0003714 | transcription corepressor activity | TAS | 28533407 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0042393 | histone binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IDA | 28533407 |
GO:0005634 | nucleus | IEA,IDA | 29429572 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | 28533407 |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006915 | apoptotic process | TAS | 8812431 |
GO:0007399 | nervous system development | IBA | 21873635 |
GO:0045892 | negative regulation of transcription, DNA-templated | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DPF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DPF2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DPF2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DPF2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dpf2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dpf2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DPF2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DPF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dpf2 30 |
|
||
Str.10851 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | req-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dpf2l 31 |
|
OneToMany | |
dpf2 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | d4 31 |
|
ManyToMany | |
tth 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | dpff-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12010 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
930733 | Uncertain Significance: Coffin-Siris syndrome 7 | 65,341,461(+) |
C/G NM_006268.5(DPF2):c.364C>G (p.Leu122Val) |
MISSENSE | |
985019 | Pathogenic: Inborn genetic diseases | 65,346,059(+) |
G/A NM_006268.5(DPF2):c.904+1G>A |
SPLICE_DONOR | |
985278 | Uncertain Significance: Inborn genetic diseases | 65,345,975(+) |
A/C NM_006268.5(DPF2):c.821A>C (p.Asp274Ala) |
MISSENSE | |
985546 | Uncertain Significance: Inborn genetic diseases | 65,344,033(+) |
A/C NM_006268.5(DPF2):c.601A>C (p.Ile201Leu) |
MISSENSE | |
985635 | Uncertain Significance: Inborn genetic diseases | 65,346,018(+) |
A/C NM_006268.5(DPF2):c.864A>C (p.Gln288His) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
coffin-siris syndrome 7 |
|
|
coffin-siris syndrome 1 |
|
|
multiple endocrine neoplasia |
|
|
flinders island spotted fever |
|
|
small-cell carcinoma of the ovary of hypercalcemic type |
|
|