Gene Gene information from NCBI Gene database.
Entrez ID 23133
Gene name PHD finger protein 8
Gene symbol PHF8
Synonyms (NCBI Gene)
JHDM1FKDM7BMRXSSDZNF422
Chromosome X
Chromosome location Xp11.22
Summary 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
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs121918522 G>A Pathogenic Coding sequence variant, stop gained
rs121918523 T>A Pathogenic Coding sequence variant, stop gained
rs121918524 A>G Pathogenic Coding sequence variant, missense variant
rs797044665 G>C Likely-pathogenic Stop gained, coding sequence variant
rs878853148 C>G Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
640
miRTarBase ID miRNA Experiments Reference
MIRT019133 hsa-miR-335-5p Microarray 18185580
MIRT050476 hsa-miR-20a-5p CLASH 23622248
MIRT041284 hsa-miR-193b-3p CLASH 23622248
MIRT037650 hsa-miR-744-5p CLASH 23622248
MIRT036321 hsa-miR-1229-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IMP 20622854
GO:0003682 Function Chromatin binding IDA 20622854
GO:0003712 Function Transcription coregulator activity IBA
GO:0005506 Function Iron ion binding IDA 20023638
GO:0005506 Function Iron ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300560 20672 ENSG00000172943
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPP1
Protein name Histone lysine demethylase PHF8 (EC 1.14.11.27) (EC 1.14.11.65) (PHD finger protein 8) ([histone H3]-dimethyl-L-lysine(36) demethylase PHF8) ([histone H3]-dimethyl-L-lysine(9) demethylase PHF8)
Protein 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 H3K
PDB 2WWU , 3K3N , 3K3O , 3KV4 , 4DO0 , 7CMZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00628 PHD 43 92 PHD-finger Domain
PF02373 JmjC 270 370 JmjC domain, hydroxylase Domain
PF17811 JHD 374 477 Jumonji helical domain Domain
Sequence
MNRSRAIVQRGRVLPPPAPLDTTNLAGRRTLQGRAKMASVPVYCLCRLPYDVTRFMIECD
MCQDWFHGSCVGVEEEKAADIDLYHCPNCEVL
HGPSIMKKRRGSSKGHDTHKGKPVKTGS
PTFVRELRSRTFDSSDEVILKPTGNQLTVEFLEENSFSVPILVLKKDGLGMTLPSPSFTV
RDVEHYVGSDKEIDVIDVTRQADCKMKLGDFVKYYYSGKREKVLNVISLEFSDTRLSNLV
ETPKIVRKLSWVENLWPEECVFERPNVQKYCLMSVRDSYTDFHIDFGGTSVWYHVLKGEK
IFYLIRPTNANLTLFECWSSSSNQNEMFFGDQVDKCYKCSVKQGQTLFIPTGWIHAVLTP
VDCLAFGGNF
LHSLNIEMQLKAYEIEKRLSTADLFRFPNFETICWYVGKHILDIFRGLRE
NRRHPASYLVHGGKALNLAFRAWTRKEALPDHEDEIPETVRTVQLIKDLAREIRLVE
DIF
QQNVGKTSNIFGLQRIFPAGSIPLTRPAHSTSVSMSRLSLPSKNGSKKKGLKPKELFKKA
ERKGKESSALGPAGQLSYNLMDTYSHQALKTGSFQKAKFNITGACLNDSDDDSPDLDLDG
NESPLALLMSNGSTKRVKSLSKSRRTKIAKKVDKARLMAEQVMEDEFDLDSDDELQIDER
LGKEKATLIIRPKFPRKLPRAKPCSDPNRVREPGEVEFDIEEDYTTDEDMVEGVEGKLGN
GSGAGGILDLLKASRQVGGPDYAALTEAPASPSTQEAIQGMLCMANLQSSSSSPATSSLQ
AWWTGGQDRSSGSSSSGLGTVSNSPASQRTPGKRPIKRPAYWRTESEEEEENASLDEQDS
LGACFKDAEYIYPSLESDDDDPALKSRPKKKKNSDDAPWSPKARVTPTLPKQDRPVREGT
RVASIETGLAAAAAKLAQQELQKAQKKKYIKKKPLLKEVEQPRPQDSNLSLTVPAPTVAA
TPQLVTSSSPLPPPEPKQEALSGSLADHEYTARPNAFGMAQANRSTTPMAPGVFLTQRRP
SVGSQSNQAGQGKRPKKGLATAKQRLGRILKIHRNGKLLL
Sequence length 1060
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Condensation of Prophase Chromosomes
HDMs demethylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Pathogenic rs878853148 RCV000224454
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PHF8-related disorder Likely pathogenic rs2519674440 RCV003402113
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability Siderius type Likely pathogenic; Pathogenic rs2519516307, rs2519528965, rs2519660069, rs121918522, rs121918523, rs121918524, rs2519674603, rs2519312896, rs1057518729, rs1603305030, rs2065126287, rs2065590491 RCV005603771
RCV003142418
RCV000011544
RCV000011545
RCV000011546
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 23518351
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 27689328
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 29330049
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28485378
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28485378
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 27689328
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 18498374
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism LHGDN 18498374
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27183383, 27899639
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40427554 Associate
★☆☆☆☆
Found in Text Mining only