Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7799 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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PRDM2 |
SynonymsGene synonyms aliases
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HUMHOXY1, KMT8, KMT8A, MTB-ZF, RIZ, RIZ1, RIZ2 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p36.21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1570018597 |
TAGTACAGAAAGC>- |
Likely-pathogenic |
Intron variant, non coding transcript variant, frameshift variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
YY1 |
Activation |
18488713 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Domain |
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Sequence |
MNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFV GDKKKRSQVKNNVYMWEVYYPNLGWMCIDATDPEKGNWLRYVNWACSGEEQNLFPLEINR AIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRKGKKKSQENKN KGNKIQDIQLKTSEPDFTSANMRDSAEGPKEDEEKPSASALEQPATLQEVASQEVPPELA TPAPAWEPQPEPDERLEAAACEVNDLGEEEEEEEEEDEEEEEDDDDDELEDEGEEEASMP NENSVKEPEIRCDEKPEDLLEEPKTTSEETLEDCSEVTPAMQIPRTKEEANGDVFETFMF PCQHCERKFTTKQGLERHMHIHISTVNHAFKCKYCGKAFGTQINRRRHERRHEAGLKRKP SQTLQPSEDLADGKASGENVASKDDSSPPSLGPDCLIMNSEKASQDTINSSVVEENGEVK ELHPCKYCKKVFGTHTNMRRHQRRVHERHLIPKGVRRKGGLEEPQPPAEQAQATQNVYVP STEPEEEGEADDVYIMDISSNISENLNYYIDGKIQTNNNTSNCDVIEMESASADLYGINC LLTPVTVEITQNIKTTQVPVTEDLPKEPLGSTNSEAKKRRTASPPALPKIKAETDSDPMV PSCSLSLPLSISTTEAVSFHKEKSVYLSSKLKQLLQTQDKLTPAGISATEIAKLGPVCVS APASMLPVTSSRFKRRTSSPPSSPQHSPALRDFGKPSDGKAAWTDAGLTSKKSKLESHSD SPAWSLSGRDERETVSPPCFDEYKMSKEWTASSAFSSVCNQQPLDLSSGVKQKAEGTGKT PVQWESVLDLSVHKKHCSDSEGKEFKESHSVQPTCSAVKKRKPTTCMLQKVLLNEYNGID LPVENPADGTRSPSPCKSLEAQPDPDLGPGSGFPAPTVESTPDVCPSSPALQTPSLSSGQ LPPLLIPTDPSSPPPCPPVLTVATPPPPLLPTVPLPAPSSSASPHPCPSPLSNATAQSPL PILSPTVSPSPSPIPPVEPLMSAASPGPPTLSSSSSSSSSSSSFSSSSSSSSPSPPPLSA ISSVVSSGDNLEASLPMISFKQEELENEGLKPREEPQSAAEQDVVVQETFNKNFVCNVCE SPFLSIKDLTKHLSIHAEEWPFKCEFCVQLFKDKTDLSEHRFLLHGVGNIFVCSVCKKEF AFLCNLQQHQRDLHPDKVCTHHEFESGTLRPQNFTDPSKAHVEHMQSLPEDPLETSKEEE ELNDSSEELYTTIKIMASGIKTKDPDVRLGLNQHYPSFKPPPFQYHHRNPMGIGVTATNF TTHNIPQTFTTAIRCTKCGKGVDNMPELHKHILACASASDKKRYTPKKNPVPLKQTVQPK NGVVVLDNSGKNAFRRMGQPKRLNFSVELSKMSSNKLKLNALKKKNQLVQKAILQKNKSA KQKADLKNACESSSHICPYCNREFTYIGSLNKHAAFSCPKKPLSPPKKKVSHSSKKGGHS SPASSDKNSNSNHRRRTADAEIKMQSMQTPLGKTRARSSGPTQVPLPSSSFRSKQNVKFA ASVKSKKPSSSSLRNSSPIRMAKITHVEGKKPKAVAKNHSAQLSSKTSRSLHVRVQKSKA VLQSKSTLASKKRTDRFNIKSRERSGGPVTRSLQLAAAADLSENKREDGSAKQELKDFSY SLRLASRCSPPAAPYITRQYRKVKAPAAAQFQGPFFKE
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Intracranial aneurysm |
Intracranial Aneurysm |
rs1594095223 |
30823506 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Urinary bladder cancer |
Malignant neoplasm of urinary bladder |
|
26039340 |
Bladder neoplasm |
Bladder Neoplasm |
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26039340 |
Thyroid neoplasm |
Thyroid Neoplasm |
|
17103461 |
Thyroid carcinoma |
Thyroid carcinoma |
|
17103461 |
Thyroid gland follicular adenoma |
Thyroid Gland Follicular Adenoma |
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17103461 |
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