Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51230
Gene name Gene Name - the full gene name approved by the HGNC.
PHD finger protein 20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHF20
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf104, GLEA2, HCA58, NZF, TDRD20A, TZP
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.22-q11.23
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs771829423 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1456887132 C>T Likely-pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004205 hsa-miR-197-3p Microarray 16822819
MIRT030969 hsa-miR-21-5p Microarray 18591254
MIRT618835 hsa-miR-10a-5p HITS-CLIP 23824327
MIRT618834 hsa-miR-10b-5p HITS-CLIP 23824327
MIRT618833 hsa-miR-483-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IDA 20018852
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 16415788
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610335 16098 ENSG00000025293
Protein
UniProt ID Q9BVI0
Protein name PHD finger protein 20 (Glioma-expressed antigen 2) (Hepatocellular carcinoma-associated antigen 58) (Novel zinc finger protein) (Transcription factor TZP)
Protein function Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 'Lys-16' acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downs
PDB 2LDM , 3P8D , 3Q1J , 3QII , 3SD4 , 5TAB , 5TBN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18115 Tudor_3 89 136 DNA repair protein Crb2 Tudor domain Domain
PF12618 DUF3776 176 260 Protein of unknown function (DUF3776) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, kidney, liver, lung, pancreas, placenta, spleen and testis. Not expressed in brain, skeletal muscle, colon, ovary, prostate, small intestine and thymus. Expressed in colon and ovary cancer cell lines while it is not
Sequence
MTKHPPNRRGISFEVGAQLEARDRLKNWYPAHIEDIDYEEGKVLIHFKRWNHRYDEWFCW
DSPYLRPLEKIQLRKEGLHEEDGSSEFQINEQVLACWSDCRFYPAKVTAVNKDGTYTVKF
YDGVVQTVKHIHVKAF
SKDQNIVGNARPKETDHKSLSSSPDKREKFKEQRKATVNVKKDK
EDKPLKTEKRPKQPDKEGKLICSEKGKVSEKSLPKNEKEDKENISENDREYSGDAQVDKK
PENDIVKSPQENLREPKRKR
GRPPSIAPTAVDSNSQTLQPITLELRRRKISKGCEVPLKR
PRLDKNSSQEKSKNYSENTDKDLSRRRSSRLSTNGTHEILDPDLVVSDLVDTDPLQDTLS
STKESEEGQLKSALEAGQVSSALTCHSFGDGSGAAGLELNCPSMGENTMKTEPTSPLVEL
QEISTVEVTNTFKKTDDFGSSNAPAVDLDHKFRCKVVDCLKFFRKAKLLHYHMKYFHGME
KSLEPEESPGKRHVQTRGPSASDKPSQETLTRKRVSASSPTTKDKEKNKEKKFKEFVRVK
PKKKKKKKKKTKPECPCSEEISDTSQEPSPPKAFAVTRCGSSHKPGVHMSPQLHGPESGH
HKGKVKALEEDNLSESSSESFLWSDDEYGQDVDVTTNPDEELDGDDRYDFEVVRCICEVQ
EENDFMIQCEECQCWQHGVCMGLLEENVPEKYTCYVCQDPPGQRPGFKYWYDKEWLSRGH
MHGLAFLEENYSHQNAKKIVATHQLLGDVQRVIEVLHGLQLKMSILQSREHPDLPLWCQP
WKQHSGEGRSHFRNIPVTDTRSKEEAPSYRTLNGAVEKPRPLALPLPRSVEESYITSEHC
YQKPRAYYPAVEQKLVVETRGSALDDAVNPLHENGDDSLSPRLGWPLDQDRSKGDSDPKP
GSPKVKEYVSKKALPEEAPARKLLDRGGEGLLSSQHQWQFNLLTHVESLQDEVTHRMDSI
EKELDVLESWLDYTGELEPPEPLARLPQLKHCIKQLLMDLGKVQQIALCCST
Sequence length 1012
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Regulation of TP53 Degradation
Regulation of TP53 Activity through Association with Co-factors
Stabilization of p53
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
18488026
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Anemia Dyserythropoietic Congenital Associate 36291092
Astrocytoma Associate 11703362
Blood Platelet Disorders Associate 36291092
Carcinoma Renal Cell Associate 31208361
Colorectal Neoplasms Associate 33258187
Glioblastoma Associate 11703362, 26722404
Glioma Associate 11703362, 23797602
Head and Neck Neoplasms Associate 22986368
Lymphatic Metastasis Associate 26722404
Nasopharyngeal Carcinoma Associate 22986368