Gene Gene information from NCBI Gene database.
Entrez ID 51230
Gene name PHD finger protein 20
Gene symbol PHF20
Synonyms (NCBI Gene)
C20orf104GLEA2HCA58NZFTDRD20ATZP
Chromosome 20
Chromosome location 20q11.22-q11.23
SNPs SNP information provided by dbSNP.
2
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.
458
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610335 16098 ENSG00000025293
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
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
Short stature Likely pathogenic rs1456887132, rs771829423 RCV000736218
RCV000736217
★★★★☆
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
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
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
Anemia Dyserythropoietic Congenital Congenital dyserythropoietic anemia Pubtator 36291092 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 11703362
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 11703362 Associate
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 36291092 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30524945
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cancer of Nasopharynx Nasopharyngeal Cancer BEFREE 12800201
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 31208361
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22975685
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 31208361 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 22975685
★☆☆☆☆
Found in Text Mining only