PHF21B
PHD Finger Protein 21B
Gene Information Card
| Symbol | PHF21B |
|---|---|
| Full Name | PHD Finger Protein 21B |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 112869 ncbi.nlm.nih.gov/gene/112869 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q96EK6 |
| OMIM ID | 618365 |
| HGNC ID | 25236 |
| Aliases | BHC80B, PHF21B, dJ104K13.1 |
Description
PHF21B (PHD Finger Protein 21B) encodes a protein containing a PHD-type zinc finger domain, which is involved in chromatin-mediated transcriptional regulation. The protein is part of the BHC (BRAF35-HDAC) complex and may function in histone deacetylation and gene repression. PHF21B is expressed in multiple tissues and has been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function variants in PHF21B are associated with autosomal dominant intellectual disability, likely due to disrupted chromatin remodeling. | ClinVar, OMIM |
| Potocki-Shaffer syndrome (overlap) | Deletions encompassing PHF21B on 22q13.31 may contribute to the phenotype, though the primary gene is PHF21A. | OMIM |
| Cancer (various) | Somatic mutations and altered expression of PHF21B have been reported in several cancer types, suggesting a role in tumor suppression or oncogenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney |
| K562 | 7.1 | Leukemia |
| HeLa | 5.6 | Cervical cancer |
| HepG2 | 4.2 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; likely pathogenic |
| c.2003A>G (p.Asn668Ser) | Missense | 0.001% (gnomAD) | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature termination and likely haploinsufficiency.
Gain of Function (GOF)
No evidence for gain-of-function mutations in PHF21B.
Dominant Negative (DN)
Not described for PHF21B.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • metal ion binding |
| • nucleus | • regulation of transcription |
| • DNA-templated | • histone deacetylase complex |
Pathways
• Chromatin modifying enzymes
• HDAC complex (BHC complex)
Protein Summary
PHF21B is a 668-amino acid protein containing a PHD finger domain that mediates chromatin binding. It is a component of the BHC histone deacetylase complex, which represses transcription by deacetylating histones. The protein is predominantly nuclear and is expressed in brain and other tissues. Mutations in PHF21B are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF21B Knockout HEK293 Cell Line | EDJ-KQ7400 | Human | 112885 | Details Get a Quote |
| PHF21B Knockout HeLa Cell Line | EDJ-KQ57900 | Human | 112885 | Details Get a Quote |
| PHF21B Knockout A-549 Cell Line | EDJ-KQ66393 | Human | 112885 | Details Get a Quote |
| PHF21B Knockout HCT 116 Cell Line | EDJ-KQ74819 | Human | 112885 | Details Get a Quote |
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