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Aliases for PHF8 Gene

Aliases for PHF8 Gene

  • PHD Finger Protein 8 2 3 4 5
  • Jumonji C Domain-Containing Histone Demethylase 1F 2 3
  • ZNF422 3 4
  • Histone Lysine Demethylase PHF8 3
  • EC 1.14.11.27 4
  • KIAA1111 4
  • JHDM1F 3
  • MRXSSD 3
  • KDM7B 3

External Ids for PHF8 Gene

Previous GeneCards Identifiers for PHF8 Gene

  • GC0XM052930
  • GC0XM053846
  • GC0XM051017

Summaries for PHF8 Gene

Entrez Gene Summary for PHF8 Gene

  • The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

GeneCards Summary for PHF8 Gene

PHF8 (PHD Finger Protein 8) is a Protein Coding gene. Diseases associated with PHF8 include X-Linked Intellectual Disability, Siderius Type and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Cell Cycle, Mitotic and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and methylated histone binding. An important paralog of this gene is PHF2.

UniProtKB/Swiss-Prot for PHF8 Gene

  • Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle 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 repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 Lys-36 (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated Lys-4 of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.

Gene Wiki entry for PHF8 Gene

Additional gene information for PHF8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHF8 Gene

Genomics for PHF8 Gene

GeneHancer (GH) Regulatory Elements for PHF8 Gene

Promoters and enhancers for PHF8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ054042 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 688.9 +4.6 4609 3.9 PKNOX1 CLOCK FOXA2 ARNT NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 PHF8 KDM5C ACTG1P10 SMC1A KANTR ENSG00000233250 TSPYL2 APEX2 GPR173 MAGED2
GH0XJ053420 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.9 +626.6 626628 2.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 SMC1A RIBC1 KDM5C FAM156B TSPYL2 GPR173 ACTG1P10 KDM5C-IT1 PHF8 ENSG00000233250
GH0XJ053681 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23 +364.6 364559 6 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 HUWE1 FAM156B PHF8 KANTR ACTG1P10 ENSG00000233250 TSPYL2 KDM5C FGD1 HSD17B10
GH0XJ054999 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 21.5 -951.5 -951547 2.6 HDGF PKNOX1 ATF1 ARID4B SIN3A YY1 POLR2B ELK1 ZFP91 ATF7 APEX2 PFKFB1 PHF8 GNL3L PAGE2B
GH0XJ053093 Promoter/Enhancer 1.5 Ensembl ENCODE 24.6 +954.8 954818 2.1 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF213 ZNF143 FOS KLF13 SP3 KANTR ENSG00000234019 FAM156B KDM5C KDM5C-IT1 PHF8 ACTG1P10 SMC1A ENSG00000233250 TSPYL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHF8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHF8 gene promoter:
  • E2F
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F-5
  • c-Myc
  • Max1
  • Pbx1a
  • C/EBPalpha

Genomic Locations for PHF8 Gene

Genomic Locations for PHF8 Gene
chrX:53,936,676-54,048,958
(GRCh38/hg38)
Size:
112,283 bases
Orientation:
Minus strand
chrX:53,963,109-54,075,391
(GRCh37/hg19)
Size:
112,283 bases
Orientation:
Minus strand

Genomic View for PHF8 Gene

Genes around PHF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHF8 Gene

Proteins for PHF8 Gene

  • Protein details for PHF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPP1-PHF8_HUMAN
    Recommended name:
    Histone lysine demethylase PHF8
    Protein Accession:
    Q9UPP1
    Secondary Accessions:
    • B3KMV4
    • B7Z911
    • Q5H9U5
    • Q5JPR9
    • Q5JPS0
    • Q5JPS2
    • Q5JPS3
    • Q5VUJ4
    • Q7Z6D4
    • Q9HAH2

    Protein attributes for PHF8 Gene

    Size:
    1060 amino acids
    Molecular mass:
    117864 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Interacts with POLR1B, UBTF, SETD1A, HCFC1, E2F1 and ZNF711.
    SequenceCaution:
    • Sequence=BAA83063.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13877.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI45929.1; Type=Erroneous termination; Positions=419; Note=Translated as Arg.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PHF8 Gene

    Alternative splice isoforms for PHF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHF8 Gene

Post-translational modifications for PHF8 Gene

  • Phosphorylation at Ser-69 and Ser-120 are required for dissociation from chromatin and accumulation of H4K20Me1 levels during prophase.
  • Ubiquitination at Lys732, Lys486, and Lys467
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PHF8 Gene

Domains & Families for PHF8 Gene

Gene Families for PHF8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PHF8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPP1

UniProtKB/Swiss-Prot:

PHF8_HUMAN :
  • The PHD-type zinc finger mediates the binding to H3K4me3. Binding to H3K4me3 promotes its access to H3K9me2.
  • Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily.
Domain:
  • The PHD-type zinc finger mediates the binding to H3K4me3. Binding to H3K4me3 promotes its access to H3K9me2.
  • The linker region is a critical determinant of demethylase specificity. It enables the active site of JmjC to reach the target H3K9me2 when the PHD-type zinc finger binds to H3K4me3.
Family:
  • Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily.
genes like me logo Genes that share domains with PHF8: view

Function for PHF8 Gene

Molecular function for PHF8 Gene

UniProtKB/Swiss-Prot Function:
Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle 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 repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 Lys-36 (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated Lys-4 of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.
UniProtKB/Swiss-Prot CatalyticActivity:
Protein N(6),N(6)-dimethyl-L-lysine + 2 2-oxoglutarate + 2 O(2) = protein L-lysine + 2 succinate + 2 formaldehyde + 2 CO(2).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=134 uM for histone H3 H3K9Me2 {ECO:0000269 PubMed:20023638}; KM=8 uM for histone H3 H3K4me3 and H3K9Me2 {ECO:0000269 PubMed:20023638};

Enzyme Numbers (IUBMB) for PHF8 Gene

Phenotypes From GWAS Catalog for PHF8 Gene

Gene Ontology (GO) - Molecular Function for PHF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 20622854
GO:0005506 iron ion binding IDA 20023638
GO:0005515 protein binding IPI 20208542
GO:0008270 zinc ion binding IDA 20023638
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with PHF8: view
genes like me logo Genes that share phenotypes with PHF8: view

Human Phenotype Ontology for PHF8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PHF8 Gene

miRTarBase miRNAs that target PHF8

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PHF8 Gene

Localization for PHF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHF8 Gene

Nucleus. Nucleus, nucleolus. Note=Recruited to H3K4me3 sites on chromatin during interphase. Dissociates from chromatin when cells enter mitosis.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHF8 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PHF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19843542
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IDA 20208542
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with PHF8: view

Pathways & Interactions for PHF8 Gene

genes like me logo Genes that share pathways with PHF8: view

Pathways by source for PHF8 Gene

1 GeneTex pathway for PHF8 Gene
1 BioSystems pathway for PHF8 Gene

Gene Ontology (GO) - Biological Process for PHF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IMP 20622854
GO:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with PHF8: view

No data available for SIGNOR curated interactions for PHF8 Gene

Drugs & Compounds for PHF8 Gene

(6) Drugs for PHF8 Gene - From: DGIdb and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formaldehyde Approved, Vet_approved Pharma 102
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra Full agonist, Agonist 0
Oxogluric acid Experimental, Investigational Nutra 0
TC-E 5002 Pharma 0
genes like me logo Genes that share compounds with PHF8: view

Transcripts for PHF8 Gene

Unigene Clusters for PHF8 Gene

PHD finger protein 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHF8 Gene

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: - -
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12:

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: - -
SP6:
SP7:
SP8: - -
SP9: -
SP10: - -
SP11:
SP12:

Relevant External Links for PHF8 Gene

GeneLoc Exon Structure for
PHF8
ECgene alternative splicing isoforms for
PHF8

Expression for PHF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHF8 Gene

Protein differential expression in normal tissues from HIPED for PHF8 Gene

This gene is overexpressed in Lung (16.4), Testis (13.4), and Plasma (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHF8 Gene



Protein tissue co-expression partners for PHF8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHF8 Gene:

PHF8

SOURCE GeneReport for Unigene cluster for PHF8 Gene:

Hs.133352

Evidence on tissue expression from TISSUES for PHF8 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHF8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with PHF8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PHF8 Gene

Orthologs for PHF8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PHF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHF8 34 33
  • 99.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PHF8 34 33
  • 93.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PHF8 34 33
  • 93.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phf8 33
  • 90.97 (n)
mouse
(Mus musculus)
Mammalia Phf8 16 34 33
  • 90.84 (n)
4921501E09Rik 34
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PHF8 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHF8 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHF8 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phf8 33
  • 67.28 (n)
Str.10718 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398683 33
zebrafish
(Danio rerio)
Actinopterygii phf8 34 33
  • 64.65 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3567 33
worm
(Caenorhabditis elegans)
Secernentea jmjd-1.1 34
  • 27 (a)
ManyToMany
jmjd-1.2 34
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JHD1 34
  • 29 (a)
OneToMany
Species where no ortholog for PHF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)

Evolution for PHF8 Gene

ENSEMBL:
Gene Tree for PHF8 (if available)
TreeFam:
Gene Tree for PHF8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHF8: view image

Paralogs for PHF8 Gene

Paralogs for PHF8 Gene

(12) SIMAP similar genes for PHF8 Gene using alignment to 10 proteins:

  • PHF8_HUMAN
  • B0QZE1_HUMAN
  • B0QZZ2_HUMAN
  • B0QZZ3_HUMAN
  • B0QZZ4_HUMAN
  • H0Y3N9_HUMAN
  • H0Y589_HUMAN
  • H0Y7M8_HUMAN
  • H7BZB7_HUMAN
  • Q5JPR8_HUMAN
genes like me logo Genes that share paralogs with PHF8: view

Variants for PHF8 Gene

Sequence variations from dbSNP and Humsavar for PHF8 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057518729 pathogenic, Siderius X-linked mental retardation syndrome 54,017,738(-) A/ coding_sequence_variant, frameshift
rs121918522 pathogenic, Siderius X-linked mental retardation syndrome 54,014,529(-) G/A coding_sequence_variant, stop_gained
rs121918523 pathogenic, Siderius X-linked mental retardation syndrome 54,016,662(-) T/A coding_sequence_variant, stop_gained
rs121918524 pathogenic, Siderius X-linked mental retardation syndrome, Mental retardation, X-linked, syndromic, Siderius type (MRXSSD) [MIM:300263] 54,011,232(-) A/G coding_sequence_variant, missense_variant
rs142630105 benign, likely-benign, not specified, not provided 53,940,446(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PHF8 Gene

Variant ID Type Subtype PubMed ID
esv2675498 CNV deletion 23128226
esv2740175 CNV deletion 23290073
esv3573977 CNV loss 25503493
esv3573978 CNV loss 25503493
esv3576882 CNV gain 25503493
nsv435891 CNV deletion 17901297
nsv524220 CNV gain 19592680

Variation tolerance for PHF8 Gene

Residual Variation Intolerance Score: 3.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHF8 Gene

Human Gene Mutation Database (HGMD)
PHF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHF8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHF8 Gene

Disorders for PHF8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PHF8 Gene - From: HGMD, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PHF8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PHF8_HUMAN
  • Mental retardation, X-linked, syndromic, Siderius type (MRXSSD) [MIM:300263]: A syndrome characterized by mild to borderline mental retardation with or without cleft lip/cleft palate. {ECO:0000269 PubMed:16199551, ECO:0000269 PubMed:17661819, ECO:0000269 PubMed:20101266, ECO:0000269 PubMed:20208542, ECO:0000269 PubMed:20346720, ECO:0000269 PubMed:20421419, ECO:0000269 PubMed:20548336, ECO:0000269 PubMed:20622853, ECO:0000269 PubMed:20622854}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PHF8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PHF8: view

No data available for Genatlas for PHF8 Gene

Publications for PHF8 Gene

  1. Enzymatic and structural insights for substrate specificity of a family of jumonji histone lysine demethylases. (PMID: 20023638) Horton JR … Cheng X (Nature structural & molecular biology 2010) 2 3 4 58
  2. Crystal structure of the PHF8 Jumonji domain, an Nepsilon-methyl lysine demethylase. (PMID: 20067792) Yue WW … McDonough MA (FEBS letters 2010) 3 4 22 58
  3. PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation. (PMID: 20208542) Feng W … Grummt I (Nature structural & molecular biology 2010) 3 4 22 58
  4. Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. (PMID: 17661819) Koivisto AM … Järvelä I (Clinical genetics 2007) 3 4 22 58
  5. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. (PMID: 16199551) Laumonnier F … Briault S (Journal of medical genetics 2005) 3 4 22 58

Products for PHF8 Gene

Sources for PHF8 Gene

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