Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7703
Gene name Gene Name - the full gene name approved by the HGNC.
Polycomb group ring finger 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCGF2
Synonyms (NCBI Gene) Gene synonyms aliases
MEL-18, RNF110, TPFS, ZNF144
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TPFS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryog
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1567941252 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1567941256 G>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028183 hsa-miR-33a-5p Sequencing 20371350
MIRT038479 hsa-miR-296-3p CLASH 23622248
MIRT707979 hsa-miR-202-5p HITS-CLIP 21572407
MIRT076947 hsa-miR-548aa HITS-CLIP 21572407
MIRT076951 hsa-miR-548ap-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19636380
GO:0000785 Component Chromatin IDA 19636380
GO:0001701 Process In utero embryonic development IEA
GO:0001739 Component Sex chromatin IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600346 12929 ENSG00000277258
Protein
UniProt ID P35227
Protein name Polycomb group RING finger protein 2 (DNA-binding protein Mel-18) (RING finger protein 110) (Zinc finger protein 144)
Protein function Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cell
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13923 zf-C3HC4_2 17 56 Domain
PF16207 RAWUL 164 228 RAWUL domain RING finger- and WD40-associated ubiquitin-like Domain
Tissue specificity TISSUE SPECIFICITY: Detected in all tissues examined with high expression found in placenta lung and kidney and low expression, in liver, pancreas and skeletal muscle.
Sequence
MHRTTRIKITELNPHLMCALCGGYFIDATTIVECLHSFCKTCIVRYLETNKYCPMCDVQV
HKTRPLLSIRSDKTLQDIVYKLVPGLFKDEMKRRRDFYAAYPLTEVPNGSNEDRGEVLEQ
EKGALSDDEIVSLSIEFYEGARDRDEKKGPLENGDGDKEKTGVRFLRCPAAMTVMHLAKF
LRNKMDVPSKYKVEVLYEDEPLKEYYTLMDIAYIYPWRRNGPLPLKYR
VQPACKRLTLAT
VPTPSEGTNTSGASECESVSDKAPSPATLPATSSSLPSPATPSHGSPSSHGPPATHPTSP
TPPSTASGATTAANGGSLNCLQTPSSTSRGRKMTVNGAPVPPLT
Sequence length 344
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Polycomb repressive complex
Signaling pathways regulating pluripotency of stem cells
  SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription cofactors
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
Transcriptional Regulation by E2F6
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
30343942
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 17545584, 18519679, 20170541, 21162745, 23260012, 36123926
Breast Neoplasms Inhibit 20444850
Carcinogenesis Associate 20170541, 21059209, 24964959
Colorectal Neoplasms Associate 24964959
Hereditary leiomyomatosis and renal cell cancer Associate 14982841, 26160878
Hypoxia Brain Stimulate 26160878
Leukemia Monocytic Acute Associate 10765922
Lymphatic Metastasis Inhibit 21059209
Lymphoma B Cell Associate 23948956
Medulloblastoma Associate 20717685