Gene Gene information from NCBI Gene database.
Entrez ID 57649
Gene name PHD finger protein 12
Gene symbol PHF12
Synonyms (NCBI Gene)
PF1
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
352
miRTarBase ID miRNA Experiments Reference
MIRT024170 hsa-miR-221-3p Sequencing 20371350
MIRT049291 hsa-miR-92a-3p CLASH 23622248
MIRT039475 hsa-miR-652-3p CLASH 23622248
MIRT039249 hsa-miR-454-3p CLASH 23622248
MIRT036211 hsa-miR-320b CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 22048773
GO:0001222 Function Transcription corepressor binding IEA
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IDA 22048773
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618645 20816 ENSG00000109118
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QT6
Protein name PHD finger protein 12 (PHD factor 1) (Pf1)
Protein function Transcriptional repressor acting as key scaffolding subunit of SIN3 complexes which contributes to complex assembly by contacting each core subunit domain, stabilizes the complex and constitutes the substrate receptor by recruiting the H3 histon
PDB 2L9S , 2LKM , 8BPA , 8BPB , 8BPC , 8C60
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00628 PHD 58 105 PHD-finger Domain
PF16737 PHF12_MRG_bd 202 241 PHD finger protein 12 MRG binding domain Domain
PF00628 PHD 273 319 PHD-finger Domain
Sequence
MWEKMETKTIVYDLDTSGGLMEQIQALLAPPKTDEAEKRSRKPEKEPRRSGRATNHDSCD
SCKEGGDLLCCDHCPAAFHLQCCNPPLSEEMLPPGEWMCHRCTVR
RKKREQKKELGHVNG
LVDKSGKRTTSPSSDTDLLDRSASKTELKAIAHARILERRASRPGTPTSSASTETPTSEQ
NDVDEDIIDVDEEPVAAEPDYVQPQLRRPFELLIAAAMERNPTQFQLPNELTCTTALPGS
S
KRRRKEETTGKNVKKTQHELDHNGLVPLPVKVCFTCNRSCRVAPLIQCDYCPLLFHMDC
LEPPLTAMPLGRWMCPNHI
EHVVLNQKNMTLSNRCQVFDRFQDTVSQHVVKVDFLNRIHK
KHPPNRRVLQSVKRRSLKVPDAIKSQYQFPPPLIAPAAIRDGELICNGIPEESQMHLLNS
EHLATQAEQQEWLCSVVALQCSILKHLSAKQMPSHWDSEQTEKADIKPVIVTDSSVTTSL
QTADKTPTPSHYPLSCPSGISTQNSLSCSPPHQSPALEDIGCSSCAEKSKKTPCGTANGP
VNTEVKANGPHLYSSPTDSTDPRRLPGANTPLPGLSHRQGWPRPLTPPAAGGLQNHTVGI
IVKTENATGPSSCPQRSLVPVPSLPPSIPSSCASIENTSTLQRKTVQSQIGPPLTDSRPL
GSPPNATRVLTPPQAAGDGILATTANQRFSSPAPSSDGKVSPGTLSIGSALTVPSFPANS
TAMVDLTNSLRAFMDVNGEIEINMLDEKLIKFLALQRIHQLFPSRVQPSPGSVGTHQLAS
GGHHIEVQRKEVQARAVFYPLLGLGGAVNMCYRTLYIGTGADMDVCLTNYGHCNYVSGKH
ACIFYDENTKHYELLNYSEHGTTVDNVLYSCDFSEKTPPTPPSSIVAKVQSVIRRRRHQK
QDEEPSEEAAMMSSQAQGPQRRPCNCKASSSSLIGGSGAGWEGTALLHHGSYIKLGCLQF
VFSITEFATKQPKGDASLLQDGVLAEKLSLKPHQGPVLRSNSVP
Sequence length 1004
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Lymphoma B Cell Associate 33426808
★☆☆☆☆
Found in Text Mining only
Lymphoma Mantle Cell Associate 24611650
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 26856686
★☆☆☆☆
Found in Text Mining only