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
- GC11M050775
- GC11M051570
- GC11M052232
- GC11M052892
- GC11M053560
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 Potocki-Shaffer Syndrome and Parietal Foramina. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is PHF21B.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for PHF21A at DataMed
- Search for PHF21A at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHF21A Gene
Genomics for PHF21A Gene
GeneHancer (GH) Regulatory Elements for PHF21A Gene
Promoters and enhancers for PHF21A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PHF21A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for PHF21A Gene
Genomic Locations for PHF21A Gene
- chr11:45,929,319-46,121,434
- (GRCh38/hg38)
- Size:
- 192,116 bases
- Orientation:
- Minus strand
- chr11:45,950,870-46,142,985
- (GRCh37/hg19)
Genomic View for PHF21A Gene
Genes around PHF21A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by Ensembl
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
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; Positions=Several; Evidence={ECO:0000305}; Sequence=BAB21787.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for PHF21A Gene
Post-translational modifications for PHF21A Gene
No Post-translational modifications
Other Protein References for PHF21A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- 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
- 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_011518471.1
- XP_011518475.1
- 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_016873392.1
- XP_016873393.1
- XP_016873394.1
- XP_016873395.1
- XP_016873396.1
- XP_016873397.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PHF21A
- Novus Biologicals Antibodies for PHF21A
-
Abcam antibodies for PHF21A
- Invitrogen Antibodies for PHF21A
- Search GeneTex for Antibodies for PHF21A
-
Santa Cruz Biotechnology (SCBT) 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
- Search GeneTex for Proteins for PHF21A
-
Abcam proteins for PHF21A
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for PHF21A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IBA,IEA | -- |
| GO:0003712 | transcription cofactor activity | IBA | -- |
| GO:0004407 | histone deacetylase activity | TAS | -- |
Phenotypes for PHF21A Gene
- MGI mutant phenotypes for PHF21A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PHF21A:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
- Increased HPV16-GFP infection
- Increased cell death HMECs cells
- Increased epidermal growth factor receptor (EGFR) surface abundance
- Increased Sindbis virus (SINV) infection
Animal Models for PHF21A Gene
- MGI Knock Outs for PHF21A:
-
- Phf21a tm1Tba
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for PHF21A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PHF21A gene
- Search ViGene Biosciences for PHF21A
CRISPR Products
-
OriGene CRISPR knockouts for PHF21A
- genomics-online: gRNA clones - Search results for available PHF21A gene related products
- Applied Biological Materials CRISPR for PHF21A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHF21A
- GenScript: Design CRISPR guide RNA sequences for PHF21A
miRNA for PHF21A Gene
- miRTarBase miRNAs that target PHF21A
-
- hsa-mir-335-5p (MIRT016996)
- hsa-mir-221-3p (MIRT046927)
- 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
- Search ViGene Biosciences for PHF21A
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHF21A
- Browse OriGene Inhibitory RNA Products For PHF21A
- genomics-online: shRNA clones - Search results for available PHF21A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PHF21A gene
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PHF21A in any vector
- NM_016621.3
- XM_011520170.1
- XM_011520167.1
- XM_011520180.1
- XM_011520164.1
- XM_011520178.1
- XM_011520161.1
- XM_011520175.1
- XM_011520158.1
- XM_011520173.1
- NM_001101802.1
- XM_011520171.1
- XM_011520168.1
- XM_011520181.1
- XM_011520165.1
- XM_006718248.2
- XM_011520162.1
- XM_011520176.1
- XM_011520159.1
- XM_011520174.1
- XM_011520172.1
- XM_011520169.1
- XM_011520182.1
- XM_011520166.1
- XM_011520179.1
- XM_011520163.1
- XM_011520177.1
- XM_011520160.1
- XM_005252965.3
- XM_011520157.1
- XM_005252962.3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available PHF21A gene related products
- orf clones - Search results for available PHF21A gene related products
- Applied Biological Materials Clones for PHF21A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PHF21A
-
ViGene Biosciences adenoviral particle packaged cDNA for PHF21A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PHF21A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PHF21A gene
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 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PHF21A Gene
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
IID
UniProtKB
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IBA | -- |
| GO:0007596 | blood coagulation | TAS | -- |
| GO:0016569 | covalent chromatin modification | IEA | -- |
| GO:0016575 | histone deacetylation | IEA | -- |
No data available for SIGNOR curated interactions for PHF21A Gene
Transcripts for PHF21A Gene
mRNA/cDNA for PHF21A Gene
- (50) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (274) Selected AceView cDNA sequences:
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PHF21A Gene
- PHD finger protein 21A:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PHF21A
- genomics-online: gRNA clones - Search results for available PHF21A gene related products
- Applied Biological Materials CRISPR for PHF21A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHF21A
- GenScript: Design CRISPR guide RNA sequences for PHF21A
miRNA Products
- Search ViGene Biosciences for PHF21A
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHF21A
- Browse OriGene Inhibitory RNA Products For PHF21A
- genomics-online: shRNA clones - Search results for available PHF21A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PHF21A gene
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PHF21A in any vector
- NM_016621.3
- XM_011520170.1
- XM_011520167.1
- XM_011520180.1
- XM_011520164.1
- XM_011520178.1
- XM_011520161.1
- XM_011520175.1
- XM_011520158.1
- XM_011520173.1
- NM_001101802.1
- XM_011520171.1
- XM_011520168.1
- XM_011520181.1
- XM_011520165.1
- XM_006718248.2
- XM_011520162.1
- XM_011520176.1
- XM_011520159.1
- XM_011520174.1
- XM_011520172.1
- XM_011520169.1
- XM_011520182.1
- XM_011520166.1
- XM_011520179.1
- XM_011520163.1
- XM_011520177.1
- XM_011520160.1
- XM_005252965.3
- XM_011520157.1
- XM_005252962.3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available PHF21A gene related products
- orf clones - Search results for available PHF21A gene related products
- Applied Biological Materials Clones for PHF21A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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, PaxDb, MaxQB, and MOPED for PHF21A Gene
NURSA nuclear receptor signaling pathways regulating expression of PHF21A Gene:
PHF21ASOURCE 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. Expressed at much lower level in other tissues.
Evidence on tissue expression from TISSUES for PHF21A Gene
- Nervous system(4.7)
- Bone marrow(4.2)
- 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
Organs:
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 and template standards for PHF21A
-
OriGene qPCR primer pairs for PHF21A
- genomics-online: primer clones - Search results for available PHF21A gene related 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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PHF21A 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PHF21A 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PHF21A 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Phf21a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Phf21a 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PHF21A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PHF21A 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PHF21A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | phf21a 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | phf21ab 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RCO1 34 |
|
OneToMany |
- Species where no ortholog for PHF21A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for PHF21A Gene
(4) SIMAP similar genes for PHF21A Gene using alignment to 11 proteins:
Variants for PHF21A Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs35995547 | benign, not specified | 45,935,742(-) | AAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAA/AAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAA | intron_variant | |
| rs1000017334 | -- | 46,024,830(-) | G/A | intron_variant | |
| rs1000017605 | -- | 46,060,650(-) | C/T | intron_variant | |
| rs1000059557 | -- | 46,064,630(-) | C/A | intron_variant | |
| rs1000072370 | -- | 46,022,631(-) | T/C | intron_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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHF21A Gene
Disorders for PHF21A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| potocki-shaffer syndrome |
|
|
| parietal foramina |
|
|
| articulation disorder |
|
|
| speech disorder |
|
|
Search PHF21A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PHF21A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and 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 58
- 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 58
- 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 44 58
- Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58
- The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex. (PMID: 19439607) Klajn A … D'Alessandro R (The Journal of neuroscience : the official journal of the Society for Neuroscience 2009) 3 22 58
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Sources for PHF21A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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- (42) GenAtlas
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- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
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- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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