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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs1565138763 RCV000760234
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PHF21A-related disorder Likely pathogenic; Pathogenic rs2498652640 RCV003404026
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHROMOSOME 11P11.2 DELETION SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 30910347
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia BEFREE 27124303
★☆☆☆☆
Found in Text Mining only
Aniridia cerebellar ataxia mental deficiency Aniridia-cerebellar ataxia-intellectual disability syndrome Pubtator 27124303 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 30487643, 31649809 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 30487643, 31649809
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 31649809 Associate
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma CTD_human_DG 28811376
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chromosome 11p11.2 Deletion Syndrome 11p11.2 Deletion Syndrome BEFREE 22770980, 23239541, 28127865, 28571721, 30487643
★★☆☆☆
Found in Text Mining + Unknown/Other Associations