PHF8 Gene
protein-coding GIFtS: 57
GCID: GC0XM053979
|
|
PHD finger protein 8
| |
Aliases
for PHF8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| PHD Finger Protein 81 2 3 | | EC 1.14.11.273 8 | | ZNF4221 2 3 5 | | MRXSSD2 5 | | KIAA11111 3 5 | | Histone Lysine Demethylase PHF82 | | JHDM1F1 2 | | Jumonji C Domain-Containing Histone Demethylase 1F2 |
Export aliases for PHF8 gene to outside databasesPrevious GC identifers: GC0XM052930 GC0XM053846 GC0XM051017 |
Summaries
for PHF8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PHF8:
The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethylor dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity.Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcriptvariants encoding different isoforms have been found for this gene. (provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: PHF8_HUMAN, Q9UPP1Function: Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cellcycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9'residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue(H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressivemarks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNAtranscription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for braindevelopment, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 whennucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activitytoward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specificallybinds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activitytoward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3
Gene Wiki entry for PHF8
|
Genomic Views
for PHF8 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011630.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PHF8 gene promoter:
Max1 E2F-3a E2F-4 E2F-5 Pbx1a E2F-2 C/EBPalpha E2F E2F-1 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for PHF8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHF8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.22 Ensembl cytogenetic band: Xp11.22 HGNC cytogenetic band: Xp11.22PHF8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM053979: view genomic region
(about GC identifiers)
Start:
|
53,963,109 bp from pter |
End:
|
54,075,391 bp from pter |
Size:
|
112,283 bases |
Orientation:
|
minus strand |
|
Proteins
for PHF8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PHF8_HUMAN, Q9UPP1 (See
protein sequence)Recommended Name: Histone lysine demethylase PHF8 Size: 1060 amino acids; 117864 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (Probable)
Subunit: Interacts with POLR1B, UBTF, SETD1A, HCFC1, E2F1 and ZNF711
Subcellular location: Nucleus. Nucleus, nucleolus. Note=Recruited to H3K4me3 sites on chromatin during interphase.Dissociates from chromatin when cells enter mitosis
Sequence caution: Sequence=BAA83063.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;Sequence=BAB13877.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI41577.1;Type=Erroneous gene model prediction; Sequence=CAI41581.1; Type=Erroneous gene model prediction; Sequence=CAI41582.1;Type=Erroneous gene model prediction; Sequence=CAI42861.1; Type=Erroneous gene model prediction; Sequence=CAI45929.1;Type=Erroneous termination; Positions=419; Note=Translated as Arg;
5 PDB 3D structures from  and Proteopedia  for PHF8:2WWU (3D)
3K3N (3D)
3K3O (3D)
3KV4 (3D)
4DO0 (3D)
Secondary accessions: B7Z911 Q5H9U5 Q5JPR9 Q5JPS0 Q5JPS2 Q5JPS3 Q5VUJ4 Q7Z6D4 Q9HAH2Alternative splicing: 4 isoforms: Q9UPP1-1 Q9UPP1-2 Q9UPP1-3 Q9UPP1-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PHF8: NX_Q9UPP1
Post-translational modifications:
Phosphorylation at Ser-69 and Ser-120 are required for dissociation from chromatin and accumulation of H4K20Me1 levelsduring prophase1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UPP1
2 DME Specific Peptides for PHF8 (Q9UPP1)
PHF8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001171825.1 NP_001171826.1 NP_001171827.1 NP_055922.1
ENSEMBL proteins: ENSP00000350676 ENSP00000338868 ENSP00000379578 ENSP00000397129 ENSP00000319473 ENSP00000388796 ENSP00000414028 ENSP00000408113 ENSP00000398995 ENSP00000404117 ENSP00000405897 ENSP00000416546 ENSP00000410100 ENSP00000340051
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
PHF8 for ontologies About GeneDecksing
PHF8 Antibody Products:
Assay Products for PHF8: |
Protein
Domains /
Families
for PHF8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PHF8 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q9UPP1ProtoNet protein and cluster: Q9UPP1 UniProtKB/Swiss-Prot: PHF8_HUMAN, Q9UPP1Domain: The PHD-type zinc finger mediates the binding to H3K4me3. Binding to H3K4me3 promotes its access to H3K9me2Domain: The linker region is a critical determinant of demethylase specificity. It enables the active site of JmjC toreach the target H3K9me2 when the PHD-type zinc finger binds to H3K4me3Similarity: Belongs to the JHDM1 histone demethylase family. JHDM1D subfamilySimilarity: Contains 1 JmjC domainSimilarity: Contains 1 PHD-type zinc finger |
Function
for PHF8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PHF8_HUMAN, Q9UPP1Function: Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cellcycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9'residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue(H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressivemarks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNAtranscription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for braindevelopment, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 whennucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activitytoward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specificallybinds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activitytoward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3Catalytic activity: Protein N(6),N(6)-dimethyl-L-lysine + 2-oxoglutarate + O(2) = protein N(6)-methyl-L-lysine +succinate + formaldehyde + CO(2)Catalytic activity: Protein N(6)-methyl-L-lysine + 2-oxoglutarate + O(2) = protein L-lysine + succinate + formaldehyde+ CO(2)Biophysicochemical properties: Kinetic parameters: KM=134 uM for histone H3 H3K9Me2; KM=8 uM for histone H3 H3K4me3 andH3K9Me2;Enzyme Number (IUBMB): EC 1.14.11.271 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHF8 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHF8 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): PHF8 (NM_015107) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PHF8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF8 |
Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003682 | chromatin binding |
IDA | -- | | GO:0005506 | iron ion binding |
IDA | -- | | GO:0005515 | protein binding |
IPI | -- | | GO:0008270 | zinc ion binding |
IDA | -- | | GO:0016702 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen |
IEA | -- |
PHF8 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for PHF8:
|
Pathways & Interactions
for PHF8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PHF8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 13)
5/25 Interacting proteins for PHF8 (Q9UPP12, 3 ENSP000003388684) via UniProtKB, MINT, STRING, and/or I2D (see all 25)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000082 | G1/S transition of mitotic cell cycle |
IMP | -- | | GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0007420 | brain development |
ISS | -- | | GO:0033169 | histone H3-K9 demethylation |
IDA | -- | | GO:0035574 | histone H4-K20 demethylation |
IDA | -- |
PHF8 for ontologies About GeneDecksing
|
Drugs & Compounds
for PHF8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for PHF8
Search CenterWatch for drugs/clinical trials and news about PHF8
|
Transcripts
for PHF8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PHF8 gene (4 alternative transcripts): NM_001184896.1 NM_001184897.1 NM_001184898.1 NM_015107.2 Unigene Cluster for PHF8: PHD finger protein 8 Hs.731707 [show with all ESTs]Unigene Representative Sequence: NM_01510718 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000357988(uc004dsv.3 uc004dsu.3) ENST00000338154(uc004dst.3 uc004dsw.3)
ENST00000396282 ENST00000470103 ENST00000443302(uc004dsx.3) ENST00000322659(uc004dsy.3)
ENST00000494928 ENST00000413386 ENST00000448003 ENST00000490635 ENST00000425862
ENST00000437224 ENST00000415025 ENST00000453905 ENST00000445025 ENST00000433120
ENST00000462182 ENST00000338946
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHF8 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHF8 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): PHF8 (NM_015107) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PHF8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF8 |
Additional cDNA sequence: AB029034.1 AF091081.1 AK021696.1 AK022788.1 AK027229.1 AK304272.1 BC017720.1 BC042108.1 BC053861.1 11 DOTS entries: DT.438059 DT.95190888 DT.100673818 DT.315809 DT.403513 DT.100779272 DT.121277602 DT.40268452 DT.40124634 DT.426008 DT.92431243 24/190 AceView cDNA sequences (see all 190): BG034552 BU195738 BE676640 AI758427 CB850861 AA620622 AU125416 AW953631 BU173122 CD370213 CA314048 AA661524 BC017720 AA358691 BQ927682 BX438952 AA747292 CB117346 CA438369 BX091300 BG939390 AA358692 CR595374 BE676255
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PHF8 (see all 12) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · |
|---|
|
| SP1: | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | |
| ExUns: | 17c | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25a | · | 25b | · | 25c | · | 25d | ^ | 26a | · | 26b | ^ | 27a | · | 27b | · | 27c |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for PHF8
|
Expression
for PHF8 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PHF8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See PHF8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PHF8
SOURCE GeneReport for Unigene cluster: Hs.731707
SABiosciences Custom PCR Arrays for PHF8
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PHF8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PHF8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHF8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHF8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF8 |
Orthologs
for PHF8 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for PHF8 gene from 6/23 species (see all 23) About this table
ENSEMBL Gene Tree for PHF8 (if available)
TreeFam Gene Tree for PHF8 (if available) |
Paralogs
for PHF8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PHF8 gene
- PHF22 KDM2A2 JHDM1D2 KDM2B2 FBXL192
12 SIMAP similar genes for PHF8 using alignment to 10 protein entries: PHF8_HUMAN (see all proteins):JHDM1D KDM2B KDM2A KDM5D BPTF FBXL10
PHF2 DIDO1 CXXC1 UBR7 PHF3 TCF19
PHF8 for paralogs About GeneDecksing
|
Genomic Variants
for PHF8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PHF8 (53963109 - 54075391 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PHF8
1 CNV: 23256
Human Gene Mutation Database (HGMD): PHF8
Locus Specific Mutation Databases (LSDB): PHF8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PHF8 |
|
Disorders
/ Diseases
for PHF8 gene
(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.)
About This Section
|
PHF8 for disorders About GeneDecksing
OMIM gene information: 300560
OMIM disorders: 300263
UniProtKB/Swiss-Prot: PHF8_HUMAN, Q9UPP1
Defects in PHF8 are the cause of mental retardation syndromic X-linked Siderius type (MRXSSD) [MIM:300263]. Adisorder characterized by mild to borderline mental retardation with or without cleft lip/cleft palate
7  diseases for PHF8: About MalaCardsmental retardation syndrome cleft lip/palate cleft lip cleft lip +/- cleft palate
cleft palate intellectual disability neuronitis
3 diseases from the University of Copenhagen DISEASES database for PHF8:Cleft lip Intellectual disability Cleft palate Human Genome Epidemiology (HuGE) Navigator: PHF8 (1 document)
Export disorders for PHF8 gene to outside databases
|
Publications
for PHF8 gene (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)
About This Section
|
PubMed articles for PHF8 gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with PHF8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Enzymatic and structural insights for substrate specificity of a family of jumonji histone lysine demethylases. (PubMed id 20023638)1, 2, 3 Horton J.R.... Cheng X. (2010)
- Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
- PHF8 activates transcription of rRNA genes through H3 K4me3 binding and H3K9me1/2 demethylation. (PubMed id 20208542)1, 2, 9 Feng W....Grummt I. (2010)
- Crystal structure of the PHF8 Jumonji domain, an N(epsilon)-methyl lysine demethylase. (PubMed id 20067792)1, 2, 9 Yue W.W.... McDonough M.A. (2010)
- Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. (PubMed id 17661819)1, 2, 9 Koivisto A.M....Jarvela I. (2007)
- Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. (PubMed id 16199551)1, 2, 9 Laumonnier F.... Briault S. (2005)
- A functional link between the histone demethylase PHF 8 and the transcription factor ZNF711 in X-linked mental retardation. (PubMed id 20346720)1, 2 Kleine-Kohlbrecher D....Helin K. (2010)
- The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation. (PubMed id 20548336)1, 2 Qiu J.... Wong J. (2010)
- PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression. (PubMed id 20622854)1, 2 Liu W.... Rosenfeld M.G. (2010)
- PHF8 is a histone H3K9me2 demethylase regulating rRNA synthesis. (PubMed id 20531378)1, 2 Zhu Z.... Chen C.D. (2010)
|
External Searches for PHF8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PHF8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PHF8 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing PHF8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PHF8 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for PHF8 gene:
Search GeneIP for patents involving PHF8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PHF8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for PHF8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHF8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PHF8 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PHF8 | | OriGene 3'-UTR Clone for PHF8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHF8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHF8 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for PHF8 | | OriGene Custom Protein Services for PHF8 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PHF8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PHF8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHF8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHF8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHF8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHF8 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for PHF8 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | PHF8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF8 |
|  |  |  | | | | ThermoFisher Antibody for PHF8 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF8 |
|
|
|
|
