PHF21A (PHD finger protein 21A)

2014-08-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
BHC80,BM-006,IDDBCS,NEDMS
FUSION GENES

Other Information

Locus ID:

NCBI: 51317
MIM: 608325
HGNC: 24156
Ensembl: ENSG00000135365

Variants:

dbSNP: 51317
ClinVar: 51317
TCGA: ENSG00000135365
COSMIC: PHF21A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135365ENST00000323180Q96BD5
ENSG00000135365ENST00000418153Q96BD5
ENSG00000135365ENST00000524497E9PLU5
ENSG00000135365ENST00000525438E9PNW9
ENSG00000135365ENST00000525676H0YCM5
ENSG00000135365ENST00000527782E9PNN4
ENSG00000135365ENST00000529734E9PQM3
ENSG00000135365ENST00000529782E9PLV4
ENSG00000135365ENST00000530587H0YEK2
ENSG00000135365ENST00000531959A0A1B0GX09
ENSG00000135365ENST00000532010A0A1D5RMU1
ENSG00000135365ENST00000532028H0YCI1
ENSG00000135365ENST00000532883E9PS51
ENSG00000135365ENST00000533757E9PR02

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HDACs deacetylate histonesREACTOMER-HSA-3214815

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
227709802012Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.26
153252722004Characterization of BHC80 in BRAF-HDAC complex, involved in neuron-specific gene repression.17
194396072009The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex.13
281278652017Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.4
304876432019De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.2
285717212018Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells.0
316498092019Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.0

Citation

Dessen P

PHF21A (PHD finger protein 21A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54533/phf21a