Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51317
Gene name Gene Name - the full gene name approved by the HGNC.
PHD finger protein 21A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHF21A
Synonyms (NCBI Gene) Gene synonyms aliases
BHC80, BM-006, IDDBCS, NEDMS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDBCS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA 21873635
GO:0000118 Component Histone deacetylase complex IDA 15325272
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608325 24156 ENSG00000135365
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

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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypertension Hypertensive disease rs13306026
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Insomnia Insomnia GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
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