Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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63978
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Gene name
Gene Name - the full gene name approved by the HGNC.
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PR/SET domain 14 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PRDM14 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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PFM11 |
Chromosome
Chromosome number
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8 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8q13.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the |
UniProt ID |
Q9GZV8
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Protein name |
PR domain zinc finger protein 14 (EC 2.1.1.-) (PR domain-containing protein 14) |
Protein function |
Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of embryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell develop |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00096
|
zf-C2H2 |
461 → 483 |
Zinc finger, C2H2 type |
Domain |
PF00096
|
zf-C2H2 |
489 → 511 |
Zinc finger, C2H2 type |
Domain |
PF00096
|
zf-C2H2 |
546 → 568 |
Zinc finger, C2H2 type |
Domain |
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Tissue specificity |
TISSUE SPECIFICITY: Expressed in embryonic stem cells. Tends to be overexpressed in breast cancer (at protein level). {ECO:0000269|PubMed:17942894, ECO:0000269|PubMed:20953172}. |
Sequence |
MALPRPSEAVPQDKVCYPPESSPQNLAAYYTPFPSYGHYRNSLATVEEDFQPFRQLEAAA SAAPAMPPFPFRMAPPLLSPGLGLQREPLYDLPWYSKLPPWYPIPHVPREVPPFLSSSHE YAGASSEDLGHQIIGGDNESGPCCGPDTLIPPPPADASLLPEGLRTSQLLPCSPSKQSED GPKPSNQEGKSPARFQFTEEDLHFVLYGVTPSLEHPASLHHAISGLLVPPDSSGSDSLPQ TLDKDSLQLPEGLCLMQTVFGEVPHFGVFCSSFIAKGVRFGPFQGKVVNASEVKTYGDNS VMWEIFEDGHLSHFIDGKGGTGNWMSYVNCARFPKEQNLVAVQCQGHIFYESCKEIHQNQ ELLVWYGDCYEKFLDIPVSLQVTEPGKQPSGPSEESAEGYRCERCGKVFTYKYYRDKHLK YTPCVDKGDRKFPCSLCKRSFEKRDRLRIHILHVHEKHRPHKCSTCGKCFSQSSSLNKHM RVHSGDRPYQCVYCTKRFTASSILRTHIRQHSGEKPFKCKYCGKSFASHAAHDSHVRRSH KEDDGCSCSICGKIFSDQETFYSHMKFHEDY
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Sequence length |
571 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Lymphoblastic leukemia |
Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
19043588 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
30285260, 28991256 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Testicular Germ Cell Tumor |
Testicular Germ Cell Tumor |
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GWAS |
Diabetes |
Diabetes |
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GWAS |
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