Gene Gene information from NCBI Gene database.
Entrez ID 5253
Gene name PHD finger protein 2
Gene symbol PHF2
Synonyms (NCBI Gene)
CENP-35GRC5JHDM1EKDM7C
Chromosome 9
Chromosome location 9q22.31
Summary This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD
miRNA miRNA information provided by mirtarbase database.
193
miRTarBase ID miRNA Experiments Reference
MIRT1230900 hsa-miR-1207-5p CLIP-seq
MIRT1230901 hsa-miR-1253 CLIP-seq
MIRT1230902 hsa-miR-18a CLIP-seq
MIRT1230903 hsa-miR-18b CLIP-seq
MIRT1230904 hsa-miR-1909 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 20813266
GO:0000776 Component Kinetochore IEA
GO:0001889 Process Liver development TAS 21532585
GO:0003712 Function Transcription coregulator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604351 8920 ENSG00000197724
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75151
Protein name Lysine-specific demethylase PHF2 (EC 1.14.11.-) (GRC5) (PHD finger protein 2)
Protein function Lysine demethylase that demethylates both histones and non-histone proteins (PubMed:20129925, PubMed:21167174, PubMed:21532585). Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B a
PDB 3KQI , 3PTR , 3PU3 , 3PU8 , 3PUA , 3PUS , 7M10 , 8F8Y , 8F8Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00628 PHD 7 56 PHD-finger Domain
PF02373 JmjC 236 336 JmjC domain, hydroxylase Domain
PF17811 JHD 340 443 Jumonji helical domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, including in liver (at protein level). {ECO:0000269|PubMed:21532585}.
Sequence
MATVPVYCVCRLPYDVTRFMIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKS
TLKKKRTWHKHGPGQAPDVKPVQNGSQLFIKELRSRTFPSAEDVVARVPGSQLTLGYMEE
HGFTEPILVPKKDGLGLAVPAPTFYVSDVENYVGPERSVDVTDVTKQKDCKMKLKEFVDY
YYSTNRKRVLNVTNLEFSDTRMSSFVEPPDIVKKLSWVENYWPDDALLAKPKVTKYCLIC
VKDSYTDFHIDSGGASAWYHVLKGEKTFYLIRPASANISLYERWRSASNHSEMFFADQVD
KCYKCIVKQGQTLFIPSGWIYATLTPVDCLAFAGHF
LHSLSVEMQMRAYEVERRLKLGSL
TQFPNFETACWYMGKHLLEAFKGSHKSGKQLPPHLVQGAKILNGAFRSWTKKQALAEHED
ELPEHFKPSQLIKDLAKEIRLSE
NASKAVRPEVNTVASSDEVCDGDREKEEPPSPIEATP
PQSLLEKVSKKKTPKTVKMPKPSKIPKPPKPPKPPRPPKTLKLKDGGKKKGKKSRESASP
TIPNLDLLEAHTKEALTKMEPPKKGKATKSVLSVPNKDVVHMQNDVERLEIREQTKSKSE
AKWKYKNSKPDSLLKMEEEQKLEKSPLAGNKDNKFSFSFSNKKLLGSKALRPPTSPGVFG
ALQNFKEDKPKPVRDEYEYVSDDGELKIDEFPIRRKKNAPKRDLSFLLDKKAVLPTPVTK
PKLDSAAYKSDDSSDEGSLHIDTDTKPGRNARVKKESGSSAAGILDLLQASEEVGALEYN
PSSQPPASPSTQEAIQGMLSMANLQASDSCLQTTWGAGQAKGSSLAAHGARKNGGGSGKS
AGKRLLKRAAKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSD
DAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLT
PNTTSPSTSTSISAGTTSTSTTPASTTPASTTPASTSTASSQASQEGSSPEPPPESHSSS
LADHEYTAAGTFTGAQAGRTSQPMAPGVFLTQRRPSASSPNNNTAAKGKRTKKGMATAKQ
RLGKILKIHRNGKLLL
Sequence length 1096
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDMs demethylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
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
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Conflicting classifications of pathogenicity; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma 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 lymphocytic leukemia Lymphocytic Leukemia BEFREE 28994305, 30420689
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 28994305, 30420689
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 27744626 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 34741163 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18990233
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18990233 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27744626 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31214616, 37828054 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 28994305, 30420689
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 25043306, 27744626
★☆☆☆☆
Found in Text Mining only