Gene Gene information from NCBI Gene database.
Entrez ID 51317
Gene name PHD finger protein 21A
Gene symbol PHF21A
Synonyms (NCBI Gene)
BHC80BM-006IDDBCSNEDMS
Chromosome 11
Chromosome location 11p11.2
Summary 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
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs1554988946 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs1591092743 C>T Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1591102099 ->G Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs1591407093 AG>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs1591407315 ->TT Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
412
miRTarBase ID miRNA Experiments Reference
MIRT016996 hsa-miR-335-5p Microarray 18185580
MIRT046927 hsa-miR-221-3p CLASH 23622248
MIRT655160 hsa-miR-129-5p HITS-CLIP 23824327
MIRT655159 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT655158 hsa-miR-7855-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0000118 Component Histone deacetylase complex IDA 15325272
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15325272
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608325 24156 ENSG00000135365
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00628 PHD 490 535 PHD-finger Domain
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
MELQTLQEALKVEIQVHQKLVAQMKQDPQNADLKKQLHELQAKITALSEKQKRVVEQLRK
NLIVKQEQPDKFQIQPLPQSENKLQTAQQQPLQQLQQQQQYHHHHAQQSAAASPNLTASQ
KTVTTASMITTKTLPLVLKAATATMPASVVGQRPTIAMVTAINSQKAVLSTDVQNTPVNL
QTSSKVTGPGAEAVQIVAKNTVTLVQATPPQPIKVPQFIPPPRLTPRPNFLPQVRPKPVA
QNNIPIAPAPPPMLAAPQLIQRPVMLTKFTPTTLPTSQNSIHPVRVVNGQTATIAKTFPM
AQLTSIVIATPGTRLAGPQTVQLSKPSLEKQTVKSHTETDEKQTESRTITPPAAPKPKRE
ENPQKLAFMVSLGLVTHDHLEEIQSKRQERKRRTTANPVYSGAVFEPERKKSAVTYLNST
MHPGTRKRGRPPKYNAVLGFGALTPTSPQSSHPDSPENEKTETTFTFPAPVQPVSLPSPT
STDGDIHEDFCSVCRKSGQLLMCDTCSRVYHLDCLDPPLKTIPKGMWICPRCQDQMLKKE
EAIPWPGTLAIVHSYIAYKAAKEEEKQKLLKWSSDLKQEREQLEQKVKQLSNSISKCMEM
KNTILARQKEMHSSLEKVKQLIRLIHGIDLSKPVDSEATVGAISNGPDCTPPANAATSTP
APSPSSQSCTANCNQGEETK
Sequence length 680
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDACs deacetylate histones
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
60
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures Pathogenic; Likely pathogenic rs2135465689, rs2135936249, rs2136047144, rs2134991780, rs2504489983, rs2495614521, rs2497897075, rs2497635596, rs2504765197, rs761575760, rs1554988946, rs1565138763, rs1591102099, rs1591407315, rs1591092743
View all (1 more)
RCV001775317
RCV001807961
RCV002052210
RCV002086745
RCV002287615
RCV002795893
RCV002795918
RCV003322688
RCV003330310
RCV003387572
RCV005051803
RCV000984882
RCV000984880
RCV000984881
RCV000984883
RCV002471072
Intellectual disability Likely pathogenic; Pathogenic rs1565138763 RCV000760234
PHF21A-related disorder Likely pathogenic; Pathogenic rs2498652640 RCV003404026
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2495850699 RCV003127407
See cases Uncertain significance rs1590864380, rs2088828407 RCV002252503
RCV002252645
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aniridia cerebellar ataxia mental deficiency Associate 27124303
Autism Spectrum Disorder Associate 30487643, 31649809
Autistic Disorder Associate 31649809
Brachydactyly type A3 Associate 31649809
Colorectal Neoplasms Associate 38167072
Congenital Abnormalities Associate 36555772
Craniofacial Abnormalities Associate 28571721, 30487643, 31649809, 36555772
Drug Related Side Effects and Adverse Reactions Associate 27383371
Epilepsy Associate 30487643, 31649809, 36555772
Glioma Associate 29362722