PHF21A (PHD finger protein 21A)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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51317 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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PHD finger protein 21A |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PHF21A |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BHC80, BM-006, IDDBCS, NEDMS |
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Chromosome
Chromosome number
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11 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11p11.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q96BD5 | ||||||||||
| Protein name | PHD finger protein 21A (BHC80a) (BRAF35-HDAC complex protein BHC80) | ||||||||||
| Protein function | Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on | ||||||||||
| PDB | 2PUY , 2YQL | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in brain (PubMed:31649809). Expressed at lower level in other tissues, including heart, kidney, liver, lung and skeletal muscle (PubMed:31649809). Abundantly expressed in fetal brain (PubMed:31649809). {ECO:0000269|Pub | ||||||||||
| Sequence |
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| Sequence length | 680 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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