Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23133
Gene name Gene Name - the full gene name approved by the HGNC.
PHD finger protein 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHF8
Synonyms (NCBI Gene) Gene synonyms aliases
JHDM1F, KDM7B, MRXSSD, ZNF422
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRXSSD
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.22
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 21873635
GO:0005506 Function Iron ion binding IDA 20023638
GO:0005515 Function Protein binding IPI 20208542, 20346720, 20622854, 23022380
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300560 20672 ENSG00000172943
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Mental retardation Mental Retardation, Mild Mental Retardation, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Mental retardation, x-linked X-linked intellectual disability, Siderius type rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352
View all (405 more)
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 17661819, 20622853, 19843542, 17594395, 16199551, 25167861, 18498374
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 40427554
Carcinoma Hepatocellular Associate 30180906, 32441881
Carcinoma Renal Cell Associate 37531433
Cleft Lip Associate 17594395, 19843542, 20067792
Cleft Palate Associate 19843542
Colorectal Neoplasms Associate 28765946, 39810713
Congenital Abnormalities Associate 19843542
Fractures Spontaneous Associate 27183383
Hereditary Breast and Ovarian Cancer Syndrome Associate 27183383
Intellectual Disability Associate 17594395, 19843542, 20067792, 23092983, 31906484