Identity
HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
BHC80,BM-006,IDDBCS,NEDMS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51317
MIM: 608325
HGNC: 24156
Ensembl: ENSG00000135365
Variants:
dbSNP: 51317
ClinVar: 51317
TCGA: ENSG00000135365
COSMIC: PHF21A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36843358 | 2023 | A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations. | 0 |
| 36843358 | 2023 | A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations. | 0 |
| 36305691 | 2022 | PHF21A expression as a biomarker of hepatocellular carcinoma progression and prognosis. | 1 |
| 36305691 | 2022 | PHF21A expression as a biomarker of hepatocellular carcinoma progression and prognosis. | 1 |
| 30487643 | 2019 | De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. | 8 |
| 30910347 | 2019 | RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression. | 13 |
| 31649809 | 2019 | Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. | 17 |
| 30487643 | 2019 | De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. | 8 |
| 30910347 | 2019 | RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression. | 13 |
| 31649809 | 2019 | Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. | 17 |
| 28571721 | 2018 | Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells. | 4 |
| 28571721 | 2018 | Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells. | 4 |
| 28127865 | 2017 | Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. | 8 |
| 28127865 | 2017 | Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. | 8 |
| 22770980 | 2012 | Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. | 44 |
Citation
Dessen P
PHF21A (PHD finger protein 21A)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54533/phf21a-(phd-finger-protein-21a)
