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This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
PHF2 (PHD Finger Protein 2) is a Protein Coding gene. Diseases associated with PHF2 include Dissociative Disorder and Culler-Jones Syndrome. Among its related pathways are Chromatin Regulation / Acetylation and Chromatin organization. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and methylated histone binding. An important paralog of this gene is PHF8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0003713 | transcription coactivator activity | IDA | 21532585 |
GO:0005506 | iron ion binding | IDA | 21167174 |
GO:0005515 | protein binding | IPI | 21532585 |
GO:0008270 | zinc ion binding | IDA | 20129925 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | kinetochore | IEA,IDA | 20813266 |
GO:0000777 | condensed chromosome kinetochore | IEA | -- |
GO:0000785 | chromatin | IBA | -- |
GO:0005634 | nucleus | TAS | 10051327 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Chromatin Regulation / Acetylation | ||
3 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001889 | liver development | TAS | 21532585 |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006482 | protein demethylation | IBA,IDA | 21532585 |
GO:0033169 | histone H3-K9 demethylation | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 18c | ^ | 19a | · | 19b | · | 19c |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | - | - | |||||
SP7: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PHF2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PHF2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PHF2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Phf2 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PHF2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Phf2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PHF2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PHF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PHF2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phf2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | phf2 30 31 |
|
OneToOne | |
wufa14c10 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | F29B9.2a 32 |
|
|
|
F29B9.2b 32 |
|
|
|||
spt-3 32 |
|
|
|||
jmjd-1.1 31 |
|
ManyToMany | |||
jmjd-1.2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | JHD1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
993631 | Uncertain Significance: none provided | 93,676,611(+) |
GAA/G NM_005392.4(PHF2):c.2857_2858del (p.Lys953fs) |
FRAMESHIFT | |
rs10992837 | Benign: not provided | 93,660,207(+) |
G/A NM_005392.4(PHF2):c.1345G>A (p.Val449Ile) |
MISSENSE | |
rs10992855 | Benign: not provided | 93,676,725(+) |
G/T NM_005392.4(PHF2):c.2964G>T (p.Pro988=) |
SYNONYMOUS | |
rs138464551 | Benign: not provided | 93,663,633(+) |
C/T NM_005392.4(PHF2):c.1935C>T (p.Leu645=) |
SYNONYMOUS | |
rs140677384 | Benign: not provided | 93,673,594(+) |
G/A NM_005392.4(PHF2):c.2358G>A (p.Pro786=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4485e59 | CNV | duplication | 20981092 |
dgv7688n100 | CNV | gain | 25217958 |
esv1581383 | CNV | deletion | 17803354 |
esv2631126 | CNV | insertion | 19546169 |
esv2668862 | CNV | deletion | 23128226 |
esv2738788 | CNV | deletion | 23290073 |
esv2738789 | CNV | deletion | 23290073 |
esv2738790 | CNV | deletion | 23290073 |
esv2738791 | CNV | deletion | 23290073 |
esv2738792 | CNV | deletion | 23290073 |
esv28910 | CNV | loss | 19812545 |
esv3350789 | CNV | duplication | 20981092 |
esv3358961 | CNV | duplication | 20981092 |
esv3421237 | CNV | duplication | 20981092 |
esv3440136 | CNV | duplication | 20981092 |
esv3573292 | CNV | loss | 25503493 |
nsv1036609 | CNV | gain | 25217958 |
nsv1076192 | CNV | deletion | 25765185 |
nsv1110039 | CNV | deletion | 24896259 |
nsv1137483 | CNV | deletion | 24896259 |
nsv1139996 | CNV | duplication | 24896259 |
nsv1145256 | CNV | deletion | 24896259 |
nsv1149043 | CNV | duplication | 26484159 |
nsv509311 | CNV | insertion | 20534489 |
nsv512992 | CNV | insertion | 21212237 |
nsv519449 | CNV | loss | 19592680 |
nsv824984 | CNV | gain | 20364138 |
nsv824985 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dissociative disorder |
|
|
culler-jones syndrome |
|
|
autism spectrum disorder |
|
|