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PRDM2 (PR/SET domain 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7799
Gene nameGene Name - the full gene name approved by the HGNC.
PR/SET domain 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PRDM2
SynonymsGene synonyms aliases
HUMHOXY1, KMT8, KMT8A, MTB-ZF, RIZ, RIZ1, RIZ2
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.21
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1570018597 TAGTACAGAAAGC>- Likely-pathogenic Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
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 factor Regulation Reference
YY1 Activation 18488713
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 IDA 9334209
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
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 21873635
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 9334209
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Lysine degradation
Metabolic pathways
 
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Intracranial aneurysm Intracranial Aneurysm rs1594095223 30823506
Unknown
Disease name Disease term dbSNP ID References
Urinary bladder cancer Malignant neoplasm of urinary bladder 26039340
Bladder neoplasm Bladder Neoplasm 26039340
Thyroid neoplasm Thyroid Neoplasm 17103461
Thyroid carcinoma Thyroid carcinoma 17103461

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