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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] See more...
Aliases for PHF21A Gene
Aliases for PHF21A Gene
External Ids for PHF21A Gene
- HGNC: 24156
- Entrez Gene: 51317
- Ensembl: ENSG00000135365
- OMIM: 608325
- UniProtKB: Q96BD5
Previous GeneCards Identifiers for PHF21A Gene
- GC11M045911
- GC11M045950
- GC11M045657
- GC11M047071
- GC11M047918
- GC11M055785
- GC11M055992
- GC11M056145
- GC11M059667
- GC11M050775
- GC11M051570
- GC11M052232
- GC11M052892
- GC11M053560
- GC11M054226
- GC11M054892
- GC11M055589
Summaries 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 Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures and Potocki-Shaffer Syndrome. Among its related pathways are Chromatin organization and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is PHF21B.
UniProtKB/Swiss-Prot Summary for PHF21A Gene
-
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.
Additional gene information for PHF21A Gene
- HGNC(24156)
- Entrez Gene(51317)
- Ensembl(ENSG00000135365)
- OMIM(608325)
- UniProtKB(Q96BD5)
- Open Targets Platform(ENSG00000135365)
- Monarch Initiative
- Search for PHF21A at DataMed
- Search for PHF21A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHF21A Gene
Genomics for PHF21A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PHF21A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PHF21A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHF21A
- Top Transcription factor binding sites by QIAGEN in the PHF21A gene promoter:
-
- C/EBPalpha
- CHOP-10
- FOXO1
- FOXO1a
- HOXA9
- HOXA9B
- LCR-F1
- Meis-1
- Meis-1a
- MZF-1
Genomic Locations for PHF21A Gene
Genomic Locations for PHF21A Gene
- chr11:45,929,319-46,121,454
- (GRCh38/hg38)
- Size:
- 192,136 bases
- Orientation:
- Minus strand
- chr11:45,950,870-46,142,985
- (GRCh37/hg19)
- Size:
- 192,116 bases
- Orientation:
- Minus strand
Genomic View for PHF21A Gene
Genes around PHF21A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
PHF21A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PHF21A Gene
Proteins for PHF21A Gene
-
Protein details for PHF21A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96BD5-PF21A_HUMAN
- Recommended name:
- PHD finger protein 21A
- Protein Accession:
- Q96BD5
- D3DQP5
- Q6AWA2
- Q9C0G7
- Q9H8V9
- Q9HAK6
- Q9NZE9
Protein attributes for PHF21A Gene
- Size:
- 680 amino acids
- Molecular mass:
- 74854 Da
- Quaternary structure:
-
- 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.
- SequenceCaution:
-
- Sequence=AAF64262.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB21787.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for PHF21A Gene
Post-translational modifications for PHF21A Gene
Other Protein References for PHF21A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005253022.1
- XP_011518459.1
- XP_011518460.1
- XP_011518462.1
- XP_011518463.1
- XP_011518464.1
- XP_011518466.1
- XP_011518467.1
- XP_011518468.1
- XP_011518469.1
- XP_011518470.1
- XP_011518476.1
- XP_011518477.1
- XP_011518481.1
- XP_016873374.1
- XP_016873375.1
- XP_016873376.1
- XP_016873377.1
- XP_016873378.1
- XP_016873379.1
- XP_016873380.1
- XP_016873381.1
- XP_016873382.1
- XP_016873383.1
- XP_016873384.1
- XP_016873385.1
- XP_016873386.1
- XP_016873387.1
- XP_016873388.1
- XP_016873389.1
- XP_016873390.1
- XP_016873391.1
- XP_016873394.1
- XP_016873395.1
- XP_016873396.1
- XP_016873397.1
- XP_024304342.1
- XP_024304343.1
- XP_024304344.1
- XP_024304345.1
- XP_024304346.1
- NP_001095272.1
- NP_001338954.1
- NP_001338955.1
- NP_001338956.1
- NP_001338957.1
- NP_001338958.1
- NP_001338959.1
- NP_001338960.1
- NP_001338961.1
- NP_057705.3
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PHF21A
- Novus Biologicals Antibodies for PHF21A
-
Abcam antibodies for PHF21A
- Invitrogen Antibodies for PHF21A (AFLGC-Phf21a)
-
Boster Bio Antibodies for PHF21A
-
Santa Cruz Biotechnology (SCBT) Antibodies for PHF21A
- Sino Biological Antibodies for PHF21A
Protein Products
-
OriGene Purified Proteins for PHF21A
- Search Origene for MassSpec and Protein Over-expression Lysates for PHF21A
- Origene Custom Protein Services for PHF21A
-
Signalway Proteins for PHF21A
-
Abcam proteins for PHF21A
No data available for DME Specific Peptides for PHF21A Gene
Domains & Families for PHF21A Gene
Gene Families for PHF21A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PHF21A Gene
- InterPro:
- Blocks:
-
- Zn-finger, RING
- ProtoNet:
Suggested Antigen Peptide Sequences for PHF21A Gene
- GenScript: Design optimal peptide antigens:
-
- BRAF35-HDAC complex protein BHC80 (PF21A_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PHF21A Gene
Function for PHF21A Gene
Molecular function for PHF21A Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for PHF21A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for PHF21A Gene
- MGI mutant phenotypes for PHF21A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PHF21A:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased cell death HMECs cells
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- shRNA abundance <= 25%
- Increased epidermal growth factor receptor (EGFR) surface abundance
- Increased hepcidin::fluc mRNA expression
- Decreased epidermal growth factor (EGF) endocytosis
- Decreased Sindbis virus (SINV) infection
- Increased HPV16-GFP infection
Animal Models for PHF21A Gene
- MGI Knock Outs for PHF21A:
-
- Phf21a Phf21a<tm1Tba>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHF21A - Select products 50% OFF >
- * PHF21A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHF21A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHF21A
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHF21A
miRNA for PHF21A Gene
- miRTarBase miRNAs that target PHF21A
-
- mmu-miR-223-3p (MIRT009636)
- hsa-miR-335-5p (MIRT016996)
- hsa-miR-221-3p (MIRT046927)
- mmu-miR-5101 (MIRT589304)
- hsa-miR-548c-3p (MIRT655157)
- hsa-miR-7855-5p (MIRT655158)
- hsa-miR-216a-5p (MIRT655159)
- hsa-miR-129-5p (MIRT655160)
- hsa-miR-1909-3p (MIRT738365)
- hsa-miR-4270 (MIRT743587)
- hsa-miR-4441 (MIRT744554)
- hsa-miR-4468 (MIRT744931)
- hsa-miR-6081 (MIRT751774)
- hsa-miR-6132 (MIRT752327)
- hsa-miR-6722-3p (MIRT753878)
- hsa-miR-6754-5p (MIRT754729)
- hsa-miR-6836-5p (MIRT757221)
- hsa-miR-759 (MIRT759420)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHF21A
- Browse OriGene Inhibitory RNA Products For PHF21A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHF21A
Clone Products
- Applied Biological Materials (abm): Clones for PHF21A - Select products 50% OFF >
- * PHF21A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208813
- MG223342
- MG224824
- MR208813
- MR208813L3
- MR208813L4
- MR223342
- MR223342L3
- MR223342L4
- MR224824
- MR224824L3
- MR224824L4
- RC213929
- RC213929L1
- RC213929L2
- RC213929L3
- RC213929L4
- RC214381
- RC214381L3
- RC214381L4
- RG213929
- RG214381
- MR208813L3V
- MR208813L4V
- MR223342L3V
- MR223342L4V
- MR224824L3V
- MR224824L4V
- RC213929L1V
- RC213929L2V
- RC213929L3V
- RC213929L4V
- RC214381L3V
- RC214381L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PHF21A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHF21A
Cell Line Products
-
Horizon Cell Lines for PHF21A
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PHF21A Gene
Localization for PHF21A Gene
Subcellular locations from UniProtKB/Swiss-Prot for PHF21A Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000118 | histone deacetylase complex | IDA | 15325272 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:1990391 | DNA repair complex | IDA | 24217620 |
Pathways & Interactions for PHF21A Gene
Pathways by source for PHF21A Gene
5 Reactome pathways for PHF21A Gene
Interacting Proteins for PHF21A Gene
Selected Interacting proteins:
Q96BD5-PF21A_HUMAN
ENSP00000398824
for PHF21A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PHF21A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0007596 | blood coagulation | TAS | -- |
No data available for SIGNOR curated interactions for PHF21A Gene
Transcripts for PHF21A Gene
mRNA/cDNA for PHF21A Gene
- 10 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000323180 3675 nts (view in UCSC)
- ENST00000418153 2730 nts (view in UCSC)
- ENST00000524497 555 nts (view in UCSC)
- ENST00000525438 577 nts (view in UCSC)
- ENST00000525676 550 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHF21A - Select products 50% OFF >
- * PHF21A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHF21A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHF21A
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHF21A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHF21A
- Browse OriGene Inhibitory RNA Products For PHF21A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHF21A
Clone Products
- Applied Biological Materials (abm): Clones for PHF21A - Select products 50% OFF >
- * PHF21A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208813
- MG223342
- MG224824
- MR208813
- MR208813L3
- MR208813L4
- MR223342
- MR223342L3
- MR223342L4
- MR224824
- MR224824L3
- MR224824L4
- RC213929
- RC213929L1
- RC213929L2
- RC213929L3
- RC213929L4
- RC214381
- RC214381L3
- RC214381L4
- RG213929
- RG214381
- MR208813L3V
- MR208813L4V
- MR223342L3V
- MR223342L4V
- MR224824L3V
- MR224824L4V
- RC213929L1V
- RC213929L2V
- RC213929L3V
- RC213929L4V
- RC214381L3V
- RC214381L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PHF21A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHF21A
| 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: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | · | 26c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||
| SP2: | - | - | |||||||||||||
| SP3: | |||||||||||||||
| SP4: | |||||||||||||||
| SP5: | |||||||||||||||
| SP6: | |||||||||||||||
| SP7: | - | ||||||||||||||
| SP8: | |||||||||||||||
| SP9: | |||||||||||||||
| SP10: |
Relevant External Links for PHF21A Gene
- GeneLoc Exon Structure for
- PHF21A
Expression for PHF21A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
mRNA differential expression in normal tissues according to GTEx for PHF21A Gene
This gene is overexpressed in Whole Blood (x7.7).
This gene is overexpressed in Pancreas (61.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHF21A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHF21A
SOURCE GeneReport for Unigene cluster for PHF21A Gene:
Hs.502458mRNA Expression by UniProt/SwissProt for PHF21A Gene:
Q96BD5-PF21A_HUMAN
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).
Evidence on tissue expression from TISSUES for PHF21A Gene
- Nervous system(4.7)
- Bone marrow(4.2)
- Skin(2.2)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PHF21A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
- penis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- hair
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for PHF21A
-
OriGene qPCR primer pairs and template standards for PHF21A
Gene Expression Assay Products
Orthologs for PHF21A Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PHF21A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PHF21A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PHF21A 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PHF21A 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Phf21a 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Phf21a 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PHF21A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PHF21A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PHF21A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phf21a 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | phf21ab 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RCO1 31 |
|
OneToMany |
- Species where no ortholog for PHF21A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for PHF21A Gene
- ENSEMBL:
- Gene Tree for PHF21A (if available)
- TreeFam:
- Gene Tree for PHF21A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PHF21A: view image
Paralogs for PHF21A Gene
(4) SIMAP similar genes for PHF21A Gene using alignment to 11 proteins:
- PF21A_HUMAN
- E9PLU5_HUMAN
- E9PLV4_HUMAN
- E9PNN4_HUMAN
- E9PNW9_HUMAN
- E9PQM3_HUMAN
- E9PR02_HUMAN
- E9PS51_HUMAN
- H0YCI1_HUMAN
- H0YCM5_HUMAN
- H0YEK2_HUMAN
Variants for PHF21A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHF21A Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 711461 | Likely Benign: not provided | 45,979,820(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 719351 | Likely Benign: not provided | 45,934,034(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 719617 | Likely Benign: not provided | 45,965,546(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 723317 | Likely Benign: not provided | 45,971,329(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 780143 | Likely Benign: not provided | 45,934,201(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv24317 | CNV | gain | 19812545 |
| esv2511558 | CNV | deletion | 19546169 |
| esv2672569 | CNV | deletion | 23128226 |
| esv2744431 | CNV | deletion | 23290073 |
| esv3547697 | CNV | deletion | 23714750 |
| esv4928 | CNV | loss | 18987735 |
| esv8587 | CNV | loss | 19470904 |
| esv987535 | CNV | loss | 20482838 |
| nsv1070027 | CNV | deletion | 25765185 |
| nsv1070028 | CNV | deletion | 25765185 |
| nsv1113386 | CNV | deletion | 24896259 |
| nsv38731 | CNV | deletion | 16902084 |
| nsv475047 | CNV | novel sequence insertion | 20440878 |
| nsv516442 | CNV | loss | 19592680 |
| nsv522527 | CNV | loss | 19592680 |
| nsv523952 | CNV | gain | 19592680 |
| nsv554200 | CNV | gain | 21841781 |
| nsv951609 | CNV | duplication | 24416366 |
| nsv957182 | CNV | deletion | 24416366 |
| nsv972947 | CNV | duplication | 23825009 |
| nsv972948 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.85;
83.58% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PHF21A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHF21A Gene
Disorders for PHF21A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
|
|
| potocki-shaffer syndrome |
|
|
| meier-gorlin syndrome 1 |
|
|
| parietal foramina |
|
|
| autism |
|
|
Search PHF21A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PF21A_HUMAN- Neurodevelopmental disorder with macrocephaly and with or without seizures (NEDMS) [MIM:618725]: An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit hyperactivity disorder. {ECO:0000269 PubMed:30487643, ECO:0000269 PubMed:31649809}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PHF21A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PHF21A Gene
Publications for PHF21A Gene
- A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes. (PMID: 12032298) Hakimi MA … Shiekhattar R (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4
- 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. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
- Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. (PMID: 31649809) Kim HG … Kim CH (Molecular autism 2019) 3 4
- De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. (PMID: 30487643) Hamanaka K … Matsumoto N (European journal of human genetics : EJHG 2019) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
ExternalLinks
Products for PHF21A Gene
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- antibodies-online: Show 15 available PHF21A Antibodies ranked by validation data
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- antibodies-online: Show 3 available PHF21A Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for PHF21A
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHF21A
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- Browse Boster Bio ELISA Kits
- Signalway Proteins for PHF21A
Sources for PHF21A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
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- (44) Atlas
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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