PRDM14 (PR/SET domain 14)

Gene

• Entrez ID: 63978
• Gene name: PR/SET domain 14
• Gene symbol: PRDM14
• Synonyms (NCBI Gene): PFM11
• Chromosome: 8
• Chromosome location: 8q13.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1259994	hsa-miR-1227	CLIP-seq
MIRT1259995	hsa-miR-3149	CLIP-seq
MIRT1259996	hsa-miR-361-3p	CLIP-seq
MIRT1259997	hsa-miR-455-5p	CLIP-seq
MIRT1259998	hsa-miR-4715-3p	CLIP-seq
MIRT2076579	hsa-miR-4726-3p	CLIP-seq
MIRT2303183	hsa-miR-106a	CLIP-seq
MIRT2303184	hsa-miR-106b	CLIP-seq
MIRT2303185	hsa-miR-150	CLIP-seq
MIRT2303186	hsa-miR-17	CLIP-seq
MIRT2303187	hsa-miR-20a	CLIP-seq
MIRT2303188	hsa-miR-20b	CLIP-seq
MIRT2303189	hsa-miR-302a	CLIP-seq
MIRT2303190	hsa-miR-302b	CLIP-seq
MIRT2303191	hsa-miR-302c	CLIP-seq
MIRT2303192	hsa-miR-302d	CLIP-seq
MIRT2303193	hsa-miR-302e	CLIP-seq
MIRT2303194	hsa-miR-372	CLIP-seq
MIRT2303195	hsa-miR-373	CLIP-seq
MIRT2303196	hsa-miR-4438	CLIP-seq
MIRT2303197	hsa-miR-4731-5p	CLIP-seq
MIRT2303198	hsa-miR-5095	CLIP-seq
MIRT2303199	hsa-miR-512-3p	CLIP-seq
MIRT2303200	hsa-miR-519d	CLIP-seq
MIRT2303201	hsa-miR-520a-3p	CLIP-seq
MIRT2303202	hsa-miR-520b	CLIP-seq
MIRT2303203	hsa-miR-520c-3p	CLIP-seq
MIRT2303204	hsa-miR-520d-3p	CLIP-seq
MIRT2303205	hsa-miR-520e	CLIP-seq
MIRT2303206	hsa-miR-520g	CLIP-seq
MIRT2303207	hsa-miR-520h	CLIP-seq
MIRT2303208	hsa-miR-93	CLIP-seq
MIRT1259995	hsa-miR-3149	CLIP-seq
MIRT1259996	hsa-miR-361-3p	CLIP-seq
MIRT1259998	hsa-miR-4715-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0001708	Process	Cell fate specification	IEA
GO:0001827	Process	Inner cell mass cell fate commitment	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20211142, 21516116, 23088713, 24722188, 25416956, 25910212, 26871637, 27281218, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007281	Process	Germ cell development	IEA
GO:0007566	Process	Embryo implantation	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009566	Process	Fertilization	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0030718	Process	Germ-line stem cell population maintenance	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0032259	Process	Methylation	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040037	Process	Negative regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0141107	Function	Methyltransferase regulator activity	IEA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IEA
GO:1902459	Process	Positive regulation of stem cell population maintenance	IEA
GO:1990226	Function	Histone methyltransferase binding	IEA

Other IDs

• MIM: 611781
• HGNC: 14001
• e!Ensembl: ENSG00000147596

Protein

• UniProt ID: Q9GZV8
• 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

• 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

• Sequence length: 571

Pathways

Reactome:

Transcriptional regulation of pluripotent stem cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30338223		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17942894, 28423353, 29024936, 29178343, 31099008		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20473280, 29178343, 33499882	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	29324254	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33629299	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25233927		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	19043588		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31741141		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30658502, 35065650	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	31402336		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	29324254		★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	19043588		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31015254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17942894, 28423353, 29024936, 29178343, 31099008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23690269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28498896, 29178343, 30338223		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28423353, 28498896, 29178343, 29714146, 30155811, 30338223, 31015254, 31130394, 31741141		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17942894, 23690269, 24249158, 28423353, 28498896, 29714146, 31099008, 31741141		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23690269, 25635434		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28498896, 30338223		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	30338223		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	30338223		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	19043588		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31015254		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28117656	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28991256, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	29324254		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	29324254	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	29324254		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASDB_DG	23666240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG	23666240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	28604728, 28604732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	GWASCAT_DG	23666240		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29178343		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29178343	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35123558	Associate	★☆☆☆☆ Found in Text Mining only