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The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]
PHF21A (PHD Finger Protein 21A) is a Protein Coding gene. Diseases associated with PHF21A include Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures and Potocki-Shaffer Syndrome. Among its related pathways are Chromatin organization and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is PHF21B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000118 | histone deacetylase complex | IDA | 15325272 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:1990391 | DNA repair complex | IDA | 24217620 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006325 | chromatin organization | IEA | -- |
GO:0007596 | blood coagulation | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | · | 26c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||
SP2: | - | - | |||||||||||||
SP3: | |||||||||||||||
SP4: | |||||||||||||||
SP5: | |||||||||||||||
SP6: | |||||||||||||||
SP7: | - | ||||||||||||||
SP8: | |||||||||||||||
SP9: | |||||||||||||||
SP10: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PHF21A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PHF21A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PHF21A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PHF21A 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Phf21a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Phf21a 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PHF21A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PHF21A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PHF21A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phf21a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | phf21ab 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RCO1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711461 | Likely Benign: not provided | 45,979,820(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
719351 | Likely Benign: not provided | 45,934,034(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
719617 | Likely Benign: not provided | 45,965,546(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
723317 | Likely Benign: not provided | 45,971,329(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
780143 | Likely Benign: not provided | 45,934,201(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv24317 | CNV | gain | 19812545 |
esv2511558 | CNV | deletion | 19546169 |
esv2672569 | CNV | deletion | 23128226 |
esv2744431 | CNV | deletion | 23290073 |
esv3547697 | CNV | deletion | 23714750 |
esv4928 | CNV | loss | 18987735 |
esv8587 | CNV | loss | 19470904 |
esv987535 | CNV | loss | 20482838 |
nsv1070027 | CNV | deletion | 25765185 |
nsv1070028 | CNV | deletion | 25765185 |
nsv1113386 | CNV | deletion | 24896259 |
nsv38731 | CNV | deletion | 16902084 |
nsv475047 | CNV | novel sequence insertion | 20440878 |
nsv516442 | CNV | loss | 19592680 |
nsv522527 | CNV | loss | 19592680 |
nsv523952 | CNV | gain | 19592680 |
nsv554200 | CNV | gain | 21841781 |
nsv951609 | CNV | duplication | 24416366 |
nsv957182 | CNV | deletion | 24416366 |
nsv972947 | CNV | duplication | 23825009 |
nsv972948 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
|
|
potocki-shaffer syndrome |
|
|
meier-gorlin syndrome 1 |
|
|
parietal foramina |
|
|
autism |
|
|