Gene Gene information from NCBI Gene database.
Entrez ID 7799
Gene name PR/SET domain 2
Gene symbol PRDM2
Synonyms (NCBI Gene)
HUMHOXY1KMT8KMT8AMTB-ZFRIZRIZ1RIZ2
Chromosome 1
Chromosome location 1p36.21
Summary This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 ge
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1570018597 TAGTACAGAAAGC>- Likely-pathogenic Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
392
miRTarBase ID miRNA Experiments Reference
MIRT038603 hsa-miR-106b-3p CLASH 23622248
MIRT626956 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT626955 hsa-miR-4668-3p HITS-CLIP 23824327
MIRT626954 hsa-miR-605-5p HITS-CLIP 23824327
MIRT626953 hsa-miR-188-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
YY1 Activation 18488713
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9334209
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP 8654390
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 9334209
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 8654390
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601196 9347 ENSG00000116731
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13029
Protein name PR domain zinc finger protein 2 (EC 2.1.1.355) (GATA-3-binding protein G3B) (Lysine N-methyltransferase 8) (MTB-ZF) (MTE-binding protein) (PR domain-containing protein 2) (Retinoblastoma protein-interacting zinc finger protein) (Zinc finger protein RIZ)
Protein function S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme
PDB 2JV0 , 2QPW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00856 SET 41 141 SET domain Family
PF00096 zf-C2H2 360 382 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 390 412 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 482 508 Domain
PF13912 zf-C2H2_6 1454 1475 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in retinoblastoma cell lines and in brain tumors. Also expressed in a number of other cell lines and in brain, heart, skeletal muscle, liver and spleen. Isoform 1 is expressed in testis at much higher level than isofor
Sequence
MNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFV
GDKKKRSQVKNNVYMWEVYYPNLGWMCIDATDPEKGNWLRYVNWACSGEEQNLFPLEINR
AIYYKTLKPIAPGEELLVWYN
GEDNPEIAAAIEEERASARSKRSSPKSRKGKKKSQENKN
KGNKIQDIQLKTSEPDFTSANMRDSAEGPKEDEEKPSASALEQPATLQEVASQEVPPELA
TPAPAWEPQPEPDERLEAAACEVNDLGEEEEEEEEEDEEEEEDDDDDELEDEGEEEASMP
NENSVKEPEIRCDEKPEDLLEEPKTTSEETLEDCSEVTPAMQIPRTKEEANGDVFETFMF
PCQHCERKFTTKQGLERHMHIH
ISTVNHAFKCKYCGKAFGTQINRRRHERRHEAGLKRKP
SQTLQPSEDLADGKASGENVASKDDSSPPSLGPDCLIMNSEKASQDTINSSVVEENGEVK
ELHPCKYCKKVFGTHTNMRRHQRRVHERHLIPKGVRRKGGLEEPQPPAEQAQATQNVYVP
STEPEEEGEADDVYIMDISSNISENLNYYIDGKIQTNNNTSNCDVIEMESASADLYGINC
LLTPVTVEITQNIKTTQVPVTEDLPKEPLGSTNSEAKKRRTASPPALPKIKAETDSDPMV
PSCSLSLPLSISTTEAVSFHKEKSVYLSSKLKQLLQTQDKLTPAGISATEIAKLGPVCVS
APASMLPVTSSRFKRRTSSPPSSPQHSPALRDFGKPSDGKAAWTDAGLTSKKSKLESHSD
SPAWSLSGRDERETVSPPCFDEYKMSKEWTASSAFSSVCNQQPLDLSSGVKQKAEGTGKT
PVQWESVLDLSVHKKHCSDSEGKEFKESHSVQPTCSAVKKRKPTTCMLQKVLLNEYNGID
LPVENPADGTRSPSPCKSLEAQPDPDLGPGSGFPAPTVESTPDVCPSSPALQTPSLSSGQ
LPPLLIPTDPSSPPPCPPVLTVATPPPPLLPTVPLPAPSSSASPHPCPSPLSNATAQSPL
PILSPTVSPSPSPIPPVEPLMSAASPGPPTLSSSSSSSSSSSSFSSSSSSSSPSPPPLSA
ISSVVSSGDNLEASLPMISFKQEELENEGLKPREEPQSAAEQDVVVQETFNKNFVCNVCE
SPFLSIKDLTKHLSIHAEEWPFKCEFCVQLFKDKTDLSEHRFLLHGVGNIFVCSVCKKEF
AFLCNLQQHQRDLHPDKVCTHHEFESGTLRPQNFTDPSKAHVEHMQSLPEDPLETSKEEE
ELNDSSEELYTTIKIMASGIKTKDPDVRLGLNQHYPSFKPPPFQYHHRNPMGIGVTATNF
TTHNIPQTFTTAIRCTKCGKGVDNMPELHKHILACASASDKKRYTPKKNPVPLKQTVQPK
NGVVVLDNSGKNAFRRMGQPKRLNFSVELSKMSSNKLKLNALKKKNQLVQKAILQKNKSA
KQKADLKNACESSSHICPYCNREFTYIGSLNKHAAFSCPKKPLSPPKKKVSHSSKKGGHS
SPASSDKNSNSNHRRRTADAEIKMQSMQTPLGKTRARSSGPTQVPLPSSSFRSKQNVKFA
ASVKSKKPSSSSLRNSSPIRMAKITHVEGKKPKAVAKNHSAQLSSKTSRSLHVRVQKSKA
VLQSKSTLASKKRTDRFNIKSRERSGGPVTRSLQLAAAADLSENKREDGSAKQELKDFSY
SLRLASRCSPPAAPYITRQYRKVKAPAAAQFQGPFFKE
Sequence length 1718
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Lysine degradation
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Flexion contracture Likely pathogenic rs1570018597 RCV001007819
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Low bone mineral density Benign rs2308040 RCV001258317
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Neoplasms Associate 8654390
Breast Neoplasms Associate 11259086
Carcinogenesis Associate 10688904, 17103461, 20159667, 25987089
Carcinoma Hepatocellular Associate 11259086, 17963297, 19385975, 20736025, 32964965
Carcinoma Renal Cell Inhibit 25987089
Colorectal Neoplasms Associate 10688904, 11259086, 14760116, 26108676, 37853459
Encephalitis Herpes Simplex Associate 10688904
Esophageal Squamous Cell Carcinoma Associate 22363126
Glioma Associate 16247447, 26690953, 27757741
Leukemia Associate 12002276