BRF2

Summary

BRF2 (BRF2 general transcription factor IIIB subunit, HGNC:17298) is a protein-coding gene on chromosome 8p11.23, encoding Transcription factor IIIB 50 kDa subunit (Q9HAW0). General activator of RNA polymerase III transcription.

This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein.

Source: NCBI Gene 55290 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 44 total
• MANE Select transcript: NM_018310

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17298
Approved symbol	BRF2
Name	BRF2 general transcription factor IIIB subunit
Location	8p11.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11052, BRFU, TFIIIB50
Ensembl gene	ENSG00000104221
Ensembl biotype	protein_coding
OMIM	607013
Entrez	55290

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 nonsense_mediated_decay

ENST00000220659, ENST00000520601, ENST00000521170, ENST00000522539, ENST00000714160

RefSeq mRNA: 1 — MANE Select: NM_018310 NM_018310

CCDS: CCDS6098

Canonical transcript exons

ENST00000220659 — 4 exons

Exon	Start	End
ENSE00000689958	37848596	37848655
ENSE00000689961	37846854	37847175
ENSE00001300861	37843268	37845213
ENSE00002139986	37849630	37849861

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 90.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3037 / max 189.5829, expressed in 1803 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92711	18.3037	1803

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.80	gold quality
tibialis anterior	UBERON:0001385	90.61	gold quality
deltoid	UBERON:0001476	89.16	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.15	gold quality
gastrocnemius	UBERON:0001388	88.34	gold quality
quadriceps femoris	UBERON:0001377	88.20	gold quality
skeletal muscle tissue	UBERON:0001134	88.08	gold quality
muscle of leg	UBERON:0001383	88.06	gold quality
muscle organ	UBERON:0001630	88.06	gold quality
vastus lateralis	UBERON:0001379	88.04	gold quality
decidua	UBERON:0002450	88.00	gold quality
type B pancreatic cell	CL:0000169	87.90	silver quality
biceps brachii	UBERON:0001507	87.74	gold quality
muscle tissue	UBERON:0002385	87.27	gold quality
diaphragm	UBERON:0001103	86.12	silver quality
hindlimb stylopod muscle	UBERON:0004252	85.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.23	gold quality
cervix squamous epithelium	UBERON:0006922	83.63	silver quality
pancreatic ductal cell	CL:0002079	83.47	silver quality
thymus	UBERON:0002370	83.31	gold quality
tongue squamous epithelium	UBERON:0006919	83.31	gold quality
gluteal muscle	UBERON:0002000	83.11	gold quality
dorsal root ganglion	UBERON:0000044	82.93	gold quality
epithelial cell of pancreas	CL:0000083	82.73	silver quality
triceps brachii	UBERON:0001509	82.18	gold quality
prefrontal cortex	UBERON:0000451	82.08	gold quality
mucosa of transverse colon	UBERON:0004991	81.86	gold quality
amniotic fluid	UBERON:0000173	81.81	gold quality
cardiac muscle of right atrium	UBERON:0003379	81.73	gold quality
cerebellar vermis	UBERON:0004720	81.68	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	6.89
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting BRF2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-487A-5P	98.85	69.37	993
HSA-MIR-487B-5P	98.85	69.48	987
HSA-MIR-6715B-3P	98.80	68.07	1204

Literature-anchored findings (GeneRIF, showing 16)

• C-terminal domain of Brf2 is required for efficient association of the protein with U6 promoter-bound TBP and SNAP(c), a type 3 promoter-specific transcription factor, and for efficient recruitment of Bdp1 (PMID:16227591)
• deregulation of Brf1 and Brf2 expression could be a key mechanism responsible for the observed deregulation of RNA pol III transcription in cancer cells (PMID:18700021)
• BRF2 can serve as a marker for lung squamous cell carcinoma and may provide a novel target for therapy. (PMID:20668658)
• High expression of BRF2 is closely associated with tumor progression, angiogenesis, and poor survival in esophageal squamous cell cancer. (PMID:23550276)
• BRF2 may have a role in poor prognosis and anti-angiogenic therapy for early-stage non-small cell lung cancer (PMID:24523874)
• These results suggested that BRF2 overexpression in tumor tissues is significantly associated with the poor prognosis of NSCLC patients through promoting epithelial-mesenchymal transition (EMT) program. (PMID:24738062)
• hnRNP F is a co-factor in a subset of tristetraprolin/BRF1/BRF2-mediated mRNA decay. (PMID:24978456)
• Study solved crystal structures of a human Brf2-TATA-binding complex bound to natural promoters, obtaining a detailed view of the molecular interactions occurring at Brf2-dependent Pol III promoters and highlighting the general structural and functional conservation of human Pol II and Pol III pre-initiation complexes. (PMID:26638071)
• Data indicate the crystal structure of a Brf2-TBP-Bdp1 complex bound to a DNA promoter. (PMID:28743884)
• REVIEW: highlights the interplay of Brf2 with the Nrf2/Keap1 pathway, as well as the role of Brf2 in cancer and other possible regulations (PMID:28854119)
• Results show that the mRNA and protein expression levels of BRF2 were markedly higher in non-small cell lung cancer (NSCLC) cells and highly related to differentiation degree, lymph node metastasis, clinical stage, and vascular invasion. miR-373 was identified to directly target BRF2, resulting in the enhanced migration and invasion of NSCLC A549 cells and indicating that BRF2 affects the metastasis of NSCLC. (PMID:29025258)
• This study found a novel signaling pathway, namely MNX1-AS1/miR-527/BRF2 axis, involved in lung cancer progression. (PMID:30618167)
• MicroRNA-425-5p Inhibits Lung Cancer Cell Growth in Vitro and in Vivo by Downregulating TFIIB-Related Factor 2. (PMID:31964245)
• Silencing of BRF2 inhibits the growth and metastasis of lung cancer cells. (PMID:32705258)
• A meta-analysis of BRF2 as a prognostic biomarker in invasive breast carcinoma. (PMID:33176745)
• TFIIB-related factor 2 regulates glucose-regulated protein 78 expression in acquired middle ear cholesteatoma. (PMID:33453679)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	brf2	ENSDARG00000002060
		ENSDARG00000104644
mus_musculus	Brf2	ENSMUSG00000031487
rattus_norvegicus	Brf2	ENSRNOG00000012739

Paralogs (2): GTF2B (ENSG00000137947), BRF1 (ENSG00000185024)

Protein

Protein identifiers

Transcription factor IIIB 50 kDa subunit — Q9HAW0 (reviewed: Q9HAW0)

Alternative names: B-related factor 2, hBRFU

All UniProt accessions (4): A0AAQ5BHI0, E5RGF6, E5RGX1, Q9HAW0

UniProt curated annotations — full annotation on UniProt →

Function. General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites. Contributes to the regulation of gene expression; functions as activator in the absence of oxidative stress. Down-regulates expression of target genes in response to oxidative stress. Overexpression protects cells against apoptosis in response to oxidative stress.

Subunit / interactions. Component of TFIIIB complexes. The TFIIIB complex has two activities, alpha and beta. The TFIIIB-alpha activity complex is composed of TBP, BDP1, and a complex containing both BRF2 and at least four stably associated proteins; this complex inhibits the transcription by pol III via its phosphorylation by CK2; YY1 facilitates the TFIIIB-alpha complex formation. Interacts with TBP; this interaction promotes recruitment of BRF2 to TATA box-containing promoters. Interacts with TBP and the BURE sequence (GC-rich sequence downstream from the TATA box) to form a strong ternary complex which is joined by BDP1; this ternary complex stimulates pol III transcription. Forms a trimeric complex composed of TBP, BRF2 and mini-SNAPc complex (SNAP43, SNAP50, and the N-terminal third of SNAP190) on the promoter. Assembly of the TBP-BRF2 complex is stimulated by SNAP190. Interacts with MAF1 and SNAPC4.

Subcellular location. Nucleus.

Post-translational modifications. In response to oxidative stress, Cys-361 is reversibly oxidized to cysteine sulfenic acid. Oxidation of Cys-361 impairs formation of a ternary complex with TBP and DNA and down-regulates expression of target genes in response to oxidative stress.

Induction. Down-regulated by epigallocatechin gallate (EGCG) treatment.

Similarity. Belongs to the TFIIB family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HAW0-1	1	yes
Q9HAW0-2	2

RefSeq proteins (1): NP_060780* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000812	TFIIB	Family
IPR013137	Znf_TFIIB	Domain
IPR036915	Cyclin-like_sf	Homologous_superfamily
IPR054078	BRF2-like_C	Domain

Pfam: PF08271, PF21886

UniProt features (53 total): helix 20, strand 6, turn 5, binding site 4, region of interest 4, mutagenesis site 3, sequence conflict 3, repeat 2, modified residue 2, chain 1, splice variant 1, zinc finger region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

22 structures.

PDB	Method	Resolution (Å)
4ROC	X-RAY DIFFRACTION	1.9
4ROE	X-RAY DIFFRACTION	2.2
4ROD	X-RAY DIFFRACTION	2.7
5N9G	X-RAY DIFFRACTION	2.7
9K39	ELECTRON MICROSCOPY	2.8
9K36	ELECTRON MICROSCOPY	2.9
9K2G	ELECTRON MICROSCOPY	3
9K3U	ELECTRON MICROSCOPY	3
9K38	ELECTRON MICROSCOPY	3.1
9FSO	ELECTRON MICROSCOPY	3.28
9LXN	ELECTRON MICROSCOPY	3.3
9FSP	ELECTRON MICROSCOPY	3.39
8IUH	ELECTRON MICROSCOPY	3.4
9K3V	ELECTRON MICROSCOPY	3.5
9LKT	ELECTRON MICROSCOPY	3.5
9FSQ	ELECTRON MICROSCOPY	3.51
9LXO	ELECTRON MICROSCOPY	3.6
9FSR	ELECTRON MICROSCOPY	3.76
8ITY	ELECTRON MICROSCOPY	3.9
8IUE	ELECTRON MICROSCOPY	4.1
9FSS	ELECTRON MICROSCOPY	4.14
9K3B	ELECTRON MICROSCOPY	4.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAW0-F1	84.79	0.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 10; 28; 31; 7

Post-translational modifications (2): 353, 361

Mutagenesis-validated functional residues (3):

Position	Phenotype
110	decreases affinity for dna.
361	abolishes response to oxidative stress. abolishes the decrease in the formation of a ternary complex with dna and tbp in
361	impairs formation of a ternary complex with dna and tbp.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-749476	RNA Polymerase III Abortive And Retractive Initiation
R-HSA-76071	RNA Polymerase III Transcription Initiation From Type 3 Promoter
R-HSA-74158	RNA Polymerase III Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-76046	RNA Polymerase III Transcription Initiation

MSigDB gene sets: 148 (showing top): REACTOME_RNA_POLYMERASE_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, AACATTC_MIR4093P, GOCC_PROTEIN_DNA_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_NUCLEOLUS, MGGAAGTG_GABP_B, GOMF_TRANSCRIPTION_FACTOR_BINDING, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TBP_CLASS_PROTEIN_BINDING, GOBP_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_III

GO Biological Process (5): regulation of transcription by RNA polymerase III (GO:0006359), cellular response to oxidative stress (GO:0034599), transcription preinitiation complex assembly (GO:0070897), DNA-templated transcription initiation (GO:0006352), transcription by RNA polymerase II (GO:0006366)

GO Molecular Function (6): RNA polymerase III type 3 promoter sequence-specific DNA binding (GO:0001006), zinc ion binding (GO:0008270), RNA polymerase II general transcription initiation factor activity (GO:0016251), TBP-class protein binding (GO:0017025), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): transcription factor TFIIIB complex (GO:0000126), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription preinitiation complex (GO:0097550)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
RNA Polymerase III Transcription	2
RNA Polymerase III Transcription Initiation	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase III	1
response to oxidative stress	1
cellular response to chemical stress	1
DNA-templated transcription initiation	1
protein-DNA complex assembly	1
RNA biosynthetic process	1
RNA polymerase III cis-regulatory region sequence-specific DNA binding	1
transition metal ion binding	1
transcription by RNA polymerase II	1
general transcription initiation factor activity	1
general transcription initiation factor binding	1
binding	1
cation binding	1
RNA polymerase III transcription regulator complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
protein-DNA complex	1

Protein interactions and networks

STRING

586 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BRF2	BDP1	A6H8Y1	957
BRF2	TBP	P20226	836
BRF2	POLR3F	Q9H1D9	615
BRF2	GTF2B	Q00403	546
BRF2	LETM2	Q2VYF4	526
BRF2	SNAPC1	Q16533	506
BRF2	POLR1C	O15160	490
BRF2	POLR3D	P05423	489
BRF2	RAB11FIP1	Q6WKZ4	463
BRF2	ZMAT4	Q9H898	463
BRF2	GOT1L1	Q8NHS2	456
BRF2	POLR3E	Q9NVU0	456
BRF2	SNAPC5	O75971	447
BRF2	MAF1	Q9H063	439
BRF2	SNAPC2	Q13487	404

IntAct

66 interactions, top by confidence:

A	B	Type	Score
SNAPC4	SNAPC1	psi-mi:“MI:0914”(association)	0.790
BRF2	TBP	psi-mi:“MI:0915”(physical association)	0.590
BRF2	JUP	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	HSPA12A	psi-mi:“MI:0914”(association)	0.350
BRF2	NCAM1	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
FIS1	QSOX1	psi-mi:“MI:0914”(association)	0.350
BRF2	MMS19	psi-mi:“MI:0915”(physical association)	0.000
BRF2	COPB2	psi-mi:“MI:0915”(physical association)	0.000
BRF2	SSR3	psi-mi:“MI:0915”(physical association)	0.000
BRF2	MCM7	psi-mi:“MI:0915”(physical association)	0.000
BRF2	TMEM33	psi-mi:“MI:0915”(physical association)	0.000
BRF2	TIMM23	psi-mi:“MI:0915”(physical association)	0.000
BRF2		psi-mi:“MI:0915”(physical association)	0.000
BRF2	IPO4	psi-mi:“MI:0915”(physical association)	0.000
BRF2	XPO4	psi-mi:“MI:0915”(physical association)	0.000
BRF2	NOC2L	psi-mi:“MI:0915”(physical association)	0.000
BRF2	COPG1	psi-mi:“MI:0915”(physical association)	0.000
BRF2	HLTF	psi-mi:“MI:0915”(physical association)	0.000
BRF2	SSR1	psi-mi:“MI:0915”(physical association)	0.000
BRF2	DDX20	psi-mi:“MI:0915”(physical association)	0.000
BRF2	PCID2	psi-mi:“MI:0915”(physical association)	0.000
BRF2	TTC27	psi-mi:“MI:0915”(physical association)	0.000
BRF2	HSD17B11	psi-mi:“MI:0915”(physical association)	0.000
BRF2	PDXDC2P	psi-mi:“MI:0915”(physical association)	0.000
BRF2	ATP2A3	psi-mi:“MI:0915”(physical association)	0.000
BRF2	DNAAF5	psi-mi:“MI:0915”(physical association)	0.000
BRF2	TMEM147	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (43): BRF2 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), JUP (Affinity Capture-MS), XPO7 (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS), IPO4 (Affinity Capture-MS), COPG1 (Affinity Capture-MS), ATAD3A (Affinity Capture-MS), XPO4 (Affinity Capture-MS), MARS (Affinity Capture-MS), AIFM1 (Affinity Capture-MS), GCN1L1 (Affinity Capture-MS), GEMIN4 (Affinity Capture-MS), OTUD4 (Affinity Capture-MS), TNPO3 (Affinity Capture-MS)

ESM2 similar proteins: A0JML8, A0JP70, A2BID5, A2CEI4, A6NNW6, A9JTS5, E7FAW3, F1QNV4, O75153, O75800, O95248, P0CI65, P56192, P97874, Q08CY4, Q0VC30, Q14689, Q17QN2, Q1LWH4, Q1LXZ7, Q29S07, Q2T9L8, Q32PH0, Q3B7U4, Q3U308, Q3UAW9, Q3UH60, Q3UY23, Q4R4F1, Q641Y9, Q68FL6, Q6DG91, Q6GPP1, Q6PJN8, Q6TEN6, Q6ZNJ1, Q6ZPE2, Q6ZQA0, Q7T006, Q8BWT5

Diamond homologs: A4QNR3, A8KBY2, Q29S07, Q3UAW9, Q4R318, Q4V8D6, Q66IW8, Q9HAW0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BRF2	“form complex”	TFIIIB	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

44 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2660 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:37845050:A:G	W234R	0.997
8:37845050:A:T	W234R	0.997
8:37845044:A:G	S236P	0.995
8:37845067:G:T	A228D	0.995
8:37847010:C:G	R127P	0.995
8:37847025:A:T	V122D	0.995
8:37844906:A:G	W282R	0.994
8:37844906:A:T	W282R	0.994
8:37847029:A:G	C121R	0.994
8:37849702:A:G	C28R	0.994
8:37845001:A:G	F250S	0.993
8:37845000:A:C	F250L	0.992
8:37845000:A:T	F250L	0.992
8:37845002:A:G	F250L	0.992
8:37845090:C:A	R220S	0.992
8:37845090:C:G	R220S	0.992
8:37847032:A:G	C120R	0.992
8:37847154:A:G	L79P	0.992
8:37845048:C:A	W234C	0.991
8:37845048:C:G	W234C	0.991
8:37845091:C:G	R220T	0.991
8:37847035:C:G	G119R	0.990
8:37847035:C:T	G119R	0.990
8:37847112:G:T	A93E	0.990
8:37845094:C:T	G219E	0.989
8:37847034:C:T	G119E	0.989
8:37849765:A:G	C7R	0.989
8:37845107:A:G	W215R	0.988
8:37845107:A:T	W215R	0.988
8:37849700:G:C	C28W	0.988

dbSNP variants (sampled 300 via entrez): RS1000028986 (8:37851861 G>A,T), RS1000640594 (8:37843382 A>G), RS1000712151 (8:37843140 A>G,T), RS1000785419 (8:37847630 A>G), RS1000794039 (8:37843073 G>A), RS1000998758 (8:37849024 G>A), RS1001198364 (8:37851773 A>G), RS1001346585 (8:37844418 T>C), RS1001415371 (8:37845434 C>T), RS1001463370 (8:37850100 T>C), RS1001631581 (8:37851538 G>A,C), RS1003262830 (8:37845888 C>T), RS1003889531 (8:37848312 T>C), RS1003919301 (8:37848574 G>A), RS1004147963 (8:37843028 A>G)

Disease associations

OMIM: gene MIM:607013 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	4
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	2
cobaltous chloride	increases expression	2
Arsenic	affects cotreatment, increases abundance, increases expression, decreases expression, increases methylation	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
tungsten carbide	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
cupric oxide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	increases expression	1
trans-10,cis-12-conjugated linoleic acid	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
NSC668394	increases expression	1
Bortezomib	increases expression	1
Temozolomide	increases expression	1
Decitabine	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Cobalt	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Disulfiram	affects binding, decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0K1	SEES3-1V human BRF2, clone1	Embryonic stem cell	Male
CVCL_A0K2	SEES3-1V human BRF2, clone2	Embryonic stem cell	Male
CVCL_A0K3	SEES3-1V human BRF2, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer