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PHF21A Gene

protein-coding GIFtS: 57
GCID: GC11M045950

PHD Finger Protein 21A

See PHF21A-related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
PHD Finger Protein 21A¹ ²
BHC80² ³ ⁵
BHC80a² ³
BRAF35-HDAC Complex Protein BHC80² ³
KIAA1696³ ⁵
BRAF35/HDAC2 Complex (80 KDa)²

External Ids:	HGNC: 24156¹	Entrez Gene: 51317²	Ensembl: ENSG00000135365⁷	OMIM: 608325⁵	UniProtKB: Q96BD5³

Export aliases for PHF21A gene to outside databases

Previous GC identifers: GC11M045911 GC11M045657

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHF21A 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 restrictive silencer (NRS) (Hakimi et al., 2002 (PubMed 12032298)).(supplied

by OMIM, Nov 2010)

GeneCards Summary for PHF21A Gene:

PHF21A (PHD finger protein 21A) is a protein-coding gene. Diseases associated with PHF21A include potocki-shaffer syndrome. GO annotations related to this gene include chromatin binding. An important paralog of this gene is PHF21B.

UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5

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 histones, thereby acting as a chromatin modifier. In the BHC complex, it may act

as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in

demethylation regulation

Gene Wiki entry for PHF21A Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000011.9 NT_009237.19 NC_018922.2

Regulatory elements:

Regulatory transcription factor binding sites in the PHF21A gene promoter:
HOXA9B HOXA9 LCR-F1 C/EBPalpha CHOP-10 MZF-1 FOXO1a Meis-1a FOXO1 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHF21A promoter sequence

Search Chromatin IP Primers for PHF21A

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHF21A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2 Ensembl cytogenetic band: 11p11.2 HGNC cytogenetic band: 11p11.2

PHF21A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHF21A gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M045950: view genomic region (about GC identifiers)

Start:	45,950,870 bp from pter	End:	46,142,985 bp from pter
Size:	192,116 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5 (See protein sequence)

Recommended Name: PHD finger protein 21A

Size: 680 amino acids; 74854 Da

Subunit: Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A,

RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. In the

complex, it interacts directly with HDAC1, HDAC2, HMG20B/BRAF35, KDM1A and RCOR1/CoREST

Sequence caution: Sequence=AAF64262.1; Type=Frameshift; Positions=Several; Sequence=BAB21787.1; Type=Erroneous

initiation;

2 PDB 3D structures from and Proteopedia for PHF21A:

2PUY (3D)

2YQL (3D)

Secondary accessions: D3DQP5 Q6AWA2 Q9C0G7 Q9H8V9 Q9HAK6 Q9NZE9

Alternative splicing: 3 isoforms: Q96BD5-1 Q96BD5-2 Q96BD5-3

Explore the universe of human proteins at neXtProt for PHF21A: NX_Q96BD5

Explore proteomics data for PHF21A at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See PHF21A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001095272.1 NP_057705.3

ENSEMBL proteins:

ENSP00000323152 ENSP00000435984 ENSP00000398824 ENSP00000431964 ENSP00000431621

ENSP00000432094 ENSP00000431273 ENSP00000432916 ENSP00000436157 ENSP00000435121

ENSP00000432406 ENSP00000437110 ENSP00000434687 ENSP00000435645 ENSP00000257821

Reactome Protein details: Q96BD5

PHF21A Human Recombinant Protein Products:

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	Novus Biologicals PHF21A Protein Novus Biologicals PHF21A Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for PHF21A
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	antibodies-online proteins for PHF21A (2 products)
	antibodies-online peptides for PHF21A

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	antibodies-online antibodies for PHF21A (33 products)

PHF21A Assay Products:

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	antibodies-online kits for PHF21A (4 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PHF: Zinc fingers, PHD-type

Selected InterPro protein domains (see all 7):

IPR017956 AT_hook_DNA-bd_motif

IPR001841 Znf_RING

IPR001965 Znf_PHD

IPR013083 Znf_RING/FYVE/PHD

IPR019786 Zinc_finger_PHD-type_CS

Graphical View of Domain Structure for InterPro Entry Q96BD5

ProtoNet protein and cluster: Q96BD5

1 Blocks protein domain: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5

Similarity: Contains 1 A.T hook DNA-binding domain

Similarity: Contains 1 PHD-type zinc finger

Find genes that share domains with PHF21A About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PF21A_HUMAN, Q96BD5

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 histones, thereby acting as a chromatin modifier. In the BHC complex, it may act

as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in

demethylation regulation

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	IEA	--
GO:0005515	protein binding	--	--
GO:0008270	zinc ion binding	IEA	--

Find genes that share ontologies with PHF21A About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for PHF21A:

Increased cell death HMECs cel

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Phf21a):

behavior/neurological

mortality/aging

Find genes that share phenotypes with PHF21A About GenesLikeMe

Animal Models:
MGI mouse knock-out Phf21a^tm1Tba for PHF21A

genOway: Develop your customized and physiologically relevant rodent model for PHF21A

miRNA Products:		miRTarBase miRNAs that target PHF21A: hsa-mir-221-3p (MIRT046927), hsa-mir-335-5p (MIRT016996)

		Block miRNA regulation of human, mouse, rat PHF21A using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate PHF21A (see all 169):
		hsa-miR-411* hsa-miR-26a-2* hsa-miR-640 hsa-miR-938 hsa-miR-1260b hsa-miR-3653 hsa-miR-138-2* hsa-miR-877*

		SwitchGear 3'UTR luciferase reporter plasmid: PHF21A 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PHF21A
		Predesigned siRNA for gene silencing in human, mouse, rat PHF21A

Gene Editing
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DNA2.0 Custom Protein Engineering Service for PHF21A

Clone Products:		OriGene clones in human, mouse for PHF21A (see all 13) OriGene ORF clones in mouse, rat for PHF21A OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PHF21A (NM_016621)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHF21A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF21A

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		Browse ESI BIO Cell Lines and PureStem Progenitors for PHF21A

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF21A

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PF21A_HUMAN, Q96BD5: Nucleus (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	2

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000118	histone deacetylase complex	IDA	15325272
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--

Find genes that share ontologies with PHF21A About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PHF21A About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Hemostasis

Hemostasis

0.43

Factors involved in megakaryocyte development and platelet production

Factors involved in megakaryocyte development and platelet production

Find genes that share SuperPaths with PHF21A About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for PHF21A

Factors involved in megakaryocyte development and platelet production

Pathway & Disease-focused RT² Profiler PCR Array including PHF21A:

Epigenetic Chromatin Remodeling Factors in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for PHF21A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PHF21A (Q96BD5^{2, 3} ENSP00000398824⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
H3F3B	P84243²^,³	MINT-8089088 I2D: score=1
LPXN	O60711²^,³	MINT-66621 I2D: score=4
HIST2H3C	Q71DI3³, ENSP00000358154⁴	I2D: score=1 STRING: ENSP00000358154
H3F3A	P84243²^,³, ENSP00000355778⁴	MINT-8089088 I2D: score=1 STRING: ENSP00000355778
HIST2H3A	Q71DI3³	I2D: score=1

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Gene Ontology (GO): Selected biological process terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	15325272
GO:0001967	suckling behavior	IEA	--
GO:0006351	transcription, DNA-templated	IEA	--
GO:0006355	regulation of transcription, DNA-templated	IEA	--
GO:0007596	blood coagulation	TAS	--

Find genes that share ontologies with PHF21A About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PHF21A (PF21A)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for PHF21A gene (2 alternative transcripts):

NM_001101802.1 NM_016621.3

Unigene Cluster for PHF21A:

PHD finger protein 21A

Hs.502458 [show with all ESTs]

Unigene Representative Sequence: NM_001101802

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000527401(uc001nca.1) ENST00000323180 ENST00000530587 ENST00000418153

ENST00000525676 ENST00000532028 ENST00000534724 ENST00000527753 ENST00000534766

ENST00000532883 ENST00000525679 ENST00000524497 ENST00000531959 ENST00000529734

ENST00000529782 ENST00000533757 ENST00000525438 ENST00000527782

miRNA Products:		Block miRNA regulation of human, mouse, rat PHF21A using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate PHF21A (see all 169):
		hsa-miR-411* hsa-miR-26a-2* hsa-miR-640 hsa-miR-938 hsa-miR-1260b hsa-miR-3653 hsa-miR-138-2* hsa-miR-877*

		SwitchGear 3'UTR luciferase reporter plasmid: PHF21A 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PHF21A
		Predesigned siRNA for gene silencing in human, mouse, rat PHF21A

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		GenScript: all cDNA clones in your preferred vector (see all 2): PHF21A (NM_016621)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHF21A
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Primer Products:		OriGene qPCR primer pairs and template standards for PHF21A OriGene qSTAR qPCR primer pairs in human, mouse for PHF21A
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat PHF21A
		QuantiTect SYBR Green Assays in human, mouse, rat PHF21A
		QuantiFast Probe-based Assays in human, mouse, rat PHF21A

Additional mRNA sequence:

AB051483.1 AF208848.1 AK021530.1 AK023258.1 AL359593.1 AL359608.1 AL832258.1 AY090777.1

BC015714.2

20 DOTS entries:

DT.212580 DT.453970 DT.100780643 DT.95168886 DT.100780646 DT.92021628 DT.91886002 DT.100780647

DT.120759297 DT.120759302 DT.91749098 DT.95135258 DT.100650284 DT.106867 DT.120759191 DT.120759237

DT.120759315 DT.70103250 DT.100658944 DT.312600

Selected AceView cDNA sequences (see all 274):

AW136350 AW339601 AK023258 AA429411 AA464614 AI916080 CB044383 AI348295

BU785383 AA485181 BC015714 BE218518 AA721452 AA243540 BE042993 AB051483

BU737790 AA905840 CR624589 CK903619 AI096492 AI825211 BU076399 CA390555

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for PHF21A (see all 10) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^
SP1:							-		-		-		-										-				-		-
SP2:							-		-		-		-				-						-				-		-
SP3:							-		-		-		-				-						-				-		-																						-
SP4:							-		-		-		-				-						-				-		-																						-
SP5:													-										-				-		-

ExUns:	21	^	22	^	23	^	24	^	25	^	26a	·	26b	·	26c
SP1:	-		-
SP2:	-		-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for PHF21A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PHF21A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

PHF21A expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Blood (Hematopoietic System)
Granulocytes Peripheral Blood

PHF21A Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PHF21A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.502458

UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5

Tissue specificity: Highly expressed in brain. Expressed at much lower level in other tissues

Pathway & Disease-focused RT² Profiler PCR Array including PHF21A:

Epigenetic Chromatin Remodeling Factors in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for PHF21A OriGene qSTAR qPCR primer pairs in human, mouse for PHF21A
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat PHF21A
		QuantiTect SYBR Green Assays in human, mouse, rat PHF21A
		QuantiFast Probe-based Assays in human, mouse, rat PHF21A

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF21A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for PHF21A gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Phf21a^{1 , 5}	PHD finger protein 21A^{1, 5}	92.83(n)¹ 95.43(a)¹		2 (50.80 cM)⁵ 192285¹ NM_001109690.1¹ NP_001103160.1¹ 92184106⁵
chicken (Gallus gallus)	Aves	PHF21A¹	PHD finger protein 21A	85.48(n) 91.26(a)		423199 NM_001199647.1 NP_001186576.1
lizard (Anolis carolinensis)	Reptilia	PHF21A⁶	PHD finger protein 21A	87(a)	1 ↔ 1	1(47994223-48021222)
tropical clawed frog (Xenopus tropicalis)	Amphibia	phf21a¹	PHD finger protein 21A	76.85(n) 80.69(a)		100496525 XM_002934094.2 XP_002934140.2
zebrafish (Danio rerio)	Actinopterygii	phf21ab¹	PHD finger protein 21Ab	66.77(n) 66.61(a)		565544 XM_005174285.1 XP_005174342.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RCO1⁶	Essential subunit of the histone deacetylase Rpd3S...	10(a)	1 → many	XIII(413982-416036) YMR075W

ENSEMBL Gene Tree for PHF21A (if available)
TreeFam Gene Tree for PHF21A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PHF21A gene

PHF21B²

4 SIMAP similar genes for PHF21A using alignment to 11 protein entries: PF21A_HUMAN (see all proteins):

PHRF1 CHD4 KDM5A PHF12

Find genes that share paralogs with PHF21A About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs67737247^1,2	C	--	45689849(+)	`CGACA-/GT T/TGTTACAT`	4	--	int¹ cds¹		0	--	--	--	--
rs113392556^1,2	C,F	--	45951160(+)	`ACCCAC/TGGACA`	2	--	ut3¹		1		CSA	2
rs140358721^1,2	C	--	45951168(+)	`ACACCA/GGAGAG`	2	--	ut3¹		0	--	--	--	--
rs150340926^1,2		--	45951210(+)	`GTAGGA/GGGGTG`	2	--	ut3¹		0	--	--	--	--
rs78017238^1,2	C,F	--	45951282(+)	`TTCCGT/CTTAGA`	2	--	ut3¹		3		CSA WA	122
rs10838533^1,2	C,F,A,H	--	45951306(+)	`AGAGTT/CCCTAC`	2	--	ut3¹		9		NS NA CSA WA EA	488
rs78915745^1,2	C,F	--	45951480(+)	`CAGAGG/TGACAG`	2	--	ut3¹		1		EA	120
rs190272470^1,2		--	45951490(+)	`GGGGCA/GAGGTT`	2	--	ut3¹		0	--	--	--	--
rs61882483^1,2	C	--	45951743(+)	`TGATGG/ACCCCA`	2	--	ut3¹		2		NA	122
rs138098779^1,2		--	45951817(+)	`GACACA/GGTCAC`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PHF21A (45950870 - 46142985 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for PHF21A (see all 12): About this table

Variant ID	Type	Subtype	PubMed ID
esv2672569	CNV	Deletion	23128226
esv2744431	CNV	Deletion	23290073
esv4928	CNV	Deletion	18987735
esv2511558	CNV	Deletion	19546169
nsv897314	CNV	Loss	21882294
nsv38731	CNV	Loss	16902084
nsv516442	CNV	Loss	19592680
esv8587	CNV	Loss	19470904
esv987535	CNV	Loss	20482838
nsv522527	CNV	Loss	19592680

Human Gene Mutation Database (HGMD): PHF21A

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608325 OMIM disorders: --

1 disease for PHF21A:
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potocki-shaffer syndrome

Find genes that share disorders with PHF21A About GenesLikeMe

Genetic Association Database (GAD): PHF21A
Human Genome Epidemiology (HuGE) Navigator: PHF21A (1 document)

Export disorders for PHF21A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PHF21A gene, integrated from 10 sources (see all 30):
(articles sorted by number of sources associating them with PHF21A)

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world of online information

A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes. (PubMed id 12032298)^{1, 2, 3} Hakimi M.-A....Shiekhattar R. (Proc. Natl. Acad. Sci. U.S.A. 2002)
Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)^{1, 2, 3} Nagase T.... Ohara O. (DNA Res. 2000)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)^{1, 4} Elks C.E....Murray A. (Nat. Genet. 2010)
Regulation of LSD1 histone demethylase activity by its associated factors. (PubMed id 16140033)^{1, 2} Shi Y.-J.... Shi Y. (Mol. Cell 2005)
Characterization of BHC80 in BRAF-HDAC complex, involved in neuron- specific gene repression. (PubMed id 15325272)^{1, 2} Iwase S....Baba T. (Biochem. Biophys. Res. Commun. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. (PubMed id 12493763)^{1, 2} Hakimi M.-A.... Shiekhattar R. (J. Biol. Chem. 2003)
The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex. (PubMed id 19439607)^{1, 9} Klajn A....D'Alessandro R. (J. Neurosci. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 51317	HGNC: 24156	AceView: BHC80	Ensembl:ENSG00000135365	euGenes: HUgn51317
ECgene: PHF21A	H-InvDB: PHF21A

(According to HUGE)
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HUGE: KIAA1696

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PHF21A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PHF21A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PHF21A gene:
Search GeneIP for patents involving PHF21A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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PHD Finger Protein 21A

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