RBAK
gene geneOn this page
Also known as ZNF769
Summary
RBAK (RB associated KRAB zinc finger, HGNC:17680) is a protein-coding gene on chromosome 7p22.1, encoding RB-associated KRAB zinc finger protein (Q9NYW8). May repress E2F-dependent transcription.
This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus.
Source: NCBI Gene 57786 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 95 total — 1 likely-pathogenic
- MANE Select transcript:
NM_021163
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17680 |
| Approved symbol | RBAK |
| Name | RB associated KRAB zinc finger |
| Location | 7p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF769 |
| Ensembl gene | ENSG00000146587 |
| Ensembl biotype | protein_coding |
| OMIM | 608191 |
| Entrez | 57786 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron
ENST00000353796, ENST00000396912, ENST00000476992, ENST00000897998, ENST00000919280, ENST00000919281, ENST00000919282, ENST00000945090, ENST00000945091, ENST00000945092
RefSeq mRNA: 2 — MANE Select: NM_021163
NM_001204456, NM_021163
CCDS: CCDS5337
Canonical transcript exons
ENST00000396912 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001526717 | 5063695 | 5069487 |
| ENSE00001526724 | 5045860 | 5046396 |
| ENSE00003706484 | 5057684 | 5057779 |
| ENSE00003888823 | 5057295 | 5057421 |
| ENSE00003891902 | 5048033 | 5048091 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 95.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3772 / max 55.3051, expressed in 1628 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 77084 | 5.3772 | 1628 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 95.02 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.86 | gold quality |
| visceral pleura | UBERON:0002401 | 93.80 | gold quality |
| parietal pleura | UBERON:0002400 | 93.63 | gold quality |
| tibia | UBERON:0000979 | 92.51 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.29 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.15 | gold quality |
| endothelial cell | CL:0000115 | 91.45 | gold quality |
| gingiva | UBERON:0001828 | 91.45 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.86 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.76 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.55 | gold quality |
| deltoid | UBERON:0001476 | 89.60 | gold quality |
| oral cavity | UBERON:0000167 | 88.44 | gold quality |
| tibialis anterior | UBERON:0001385 | 88.38 | silver quality |
| caput epididymis | UBERON:0004358 | 87.88 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.64 | gold quality |
| cauda epididymis | UBERON:0004360 | 87.44 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.03 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 86.79 | gold quality |
| biceps brachii | UBERON:0001507 | 86.60 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.03 | gold quality |
| vastus lateralis | UBERON:0001379 | 85.89 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 85.86 | gold quality |
| cartilage tissue | UBERON:0002418 | 85.81 | gold quality |
| bronchial epithelial cell | CL:0002328 | 85.65 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.57 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 85.08 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | no | 231.31 |
| E-ANND-3 | no | 4.17 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| PMS2 | |
| ZNF226 |
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
171 targeting RBAK, 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-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
Literature-anchored findings (GeneRIF, showing 6)
- Novel transcription factors identified in human CD34 antigen-positive hematopoietic stem cells. (PMID:12070015)
- RBaK interacts with the androgen receptor and increases its transcriptional activity. (PMID:14664718)
- study found no evidence of mutations in the coding sequence and splice sites of RBaK in association with familial hyperaldosteronism type II (PMID:17121540)
- The role of RBaK, PMS2, and GNA12 in the inheritance of familial hyperaldosteronism type II were studied. (PMID:18307725)
- Studies indicate that data on the regulatory functions of the KRAB-ZFP in embryonic development and tumorgenesis will benefit the understanding of biological roles of KRAB-ZFP in different physiological and pathological states. (PMID:20466629)
- A genome-wide association study for highly sensitive cardiac troponin T levels identified a novel genetic variation near a RBAK-ZNF890P locus in the Japanese general population. (PMID:33321125)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rbak | ENSMUSG00000061898 |
| rattus_norvegicus | Rbak | ENSRNOG00000001099 |
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631), ZNF3 (ENSG00000166526)
Protein
Protein identifiers
RB-associated KRAB zinc finger protein — Q9NYW8 (reviewed: Q9NYW8)
Alternative names: RB-associated KRAB repressor, Zinc finger protein 769
All UniProt accessions (1): Q9NYW8
UniProt curated annotations — full annotation on UniProt →
Function. May repress E2F-dependent transcription. May promote AR-dependent transcription.
Subunit / interactions. Interacts with AR and RB1. May also interact with other nuclear hormone receptors such as NR3C1/GR.
Subcellular location. Nucleus.
Tissue specificity. Expressed in bone, brain, heart, kidney, liver, lung, pancreas and placenta.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NYW8-1 | 1 | yes |
| Q9NYW8-2 | 2 |
RefSeq proteins (2): NP_001191385, NP_066986* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352
UniProt features (30 total): zinc finger region 16, cross-link 6, region of interest 2, splice variant 2, chain 1, domain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYW8-F1 | 66.35 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 97, 259, 315, 357, 534, 537
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 106 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, AAGCCAT_MIR135A_MIR135B, chr7p22, AGGAGTG_MIR483, ACATATC_MIR190, ZHANG_BREAST_CANCER_PROGENITORS_UP, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_DN, MODULE_69, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_UP
GO Biological Process (3): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
796 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RBAK | RB1 | P06400 | 662 |
| RBAK | SLCO6A1 | Q86UG4 | 512 |
| RBAK | TAFA5 | Q7Z5A7 | 455 |
| RBAK | PRR22 | Q8IZ63 | 370 |
| RBAK | ARMC7 | Q9H6L4 | 365 |
| RBAK | C5orf24 | Q7Z6I8 | 323 |
| RBAK | ZFYVE26 | Q68DK2 | 322 |
| RBAK | POMZP3 | Q6PJE2 | 321 |
| RBAK | ANKRD13C | Q8N6S4 | 307 |
| RBAK | GPR137C | Q8N3F9 | 304 |
| RBAK | UPF3B | Q9BZI7 | 303 |
| RBAK | ZCCHC10 | Q8TBK6 | 294 |
| RBAK | MAGED4B | Q96JG8 | 290 |
| RBAK | SPATA20 | Q8TB22 | 272 |
| RBAK | POM121C | A8CG34 | 271 |
IntAct
116 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NEK6 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSGA10 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| TXK | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| BYSL | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAS8 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| CIB3 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBAK | TCAF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP1 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF648 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRACR2A | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBAK | ZNF330 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIF1AD | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO4 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGOHB | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| L3MBTL2 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNS2 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARD9 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF121 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFEMP2 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM41 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF31 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGF12 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBAK | SLC25A10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCNM1 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| LNX1 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKG1 | RBAK | psi-mi:“MI:0915”(physical association) | 0.560 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (72): RBAK (Affinity Capture-MS), RBAK (Affinity Capture-MS), RBAK (Affinity Capture-MS), RBAK (Affinity Capture-MS), RBAK (Affinity Capture-MS), RBAK (Affinity Capture-MS), RBAK (Affinity Capture-MS), RBAK (Affinity Capture-MS), RBAK-RBAKDN (Affinity Capture-RNA), RBAK (Affinity Capture-MS), RBAK (Positive Genetic), RBAK (Synthetic Lethality), RBAK (Two-hybrid), RBAK (Two-hybrid), RBAK (Two-hybrid)
ESM2 similar proteins: A2VDP4, A6NHJ4, O94892, P0CJ79, P17014, P17021, P17025, P17032, P17035, P18733, P51508, P51814, Q06730, Q06732, Q09FC8, Q0VGE8, Q14586, Q32M78, Q3MIS6, Q5JVG2, Q5R4K8, Q5R9S5, Q5RBQ3, Q5RCJ2, Q5RER9, Q5TYW1, Q5VIY5, Q6P560, Q6PDB4, Q6ZMW2, Q6ZN06, Q6ZNA1, Q76KX8, Q7L2R6, Q86Y25, Q8N184, Q8N823, Q8N883, Q8N8J6, Q8NEP9
Diamond homologs: A0JPL0, A2VDP4, A6QLU5, A6QPT6, A8MQ14, A8MUZ8, A8MWA4, B1APH4, B2RXC5, E9PYI1, E9Q8G5, O75290, O94892, P08042, P0CH99, P0CI00, P17014, P17025, P17030, P17031, P17032, P17098, P21506, P51508, P51523, P51786, P51814, P52736, P52738, Q02525, Q03923, Q03936, Q06730, Q06732, Q0VCB0, Q13401, Q14587, Q16587, Q2M218, Q2M3X9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
95 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 87 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 548976 | GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 | Likely pathogenic |
SpliceAI
1222 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:5057382:G:T | donor_gain | 1.0000 |
| 7:5057418:GTGG:G | donor_gain | 1.0000 |
| 7:5045956:G:GT | donor_gain | 0.9900 |
| 7:5046392:GAAGG:G | donor_gain | 0.9900 |
| 7:5046395:GG:G | donor_gain | 0.9900 |
| 7:5046396:GG:G | donor_gain | 0.9900 |
| 7:5048089:CAGGT:C | donor_loss | 0.9900 |
| 7:5048090:AGG:A | donor_loss | 0.9900 |
| 7:5048091:GGT:G | donor_loss | 0.9900 |
| 7:5048093:T:G | donor_loss | 0.9900 |
| 7:5057370:A:G | donor_gain | 0.9900 |
| 7:5057381:G:GT | donor_gain | 0.9900 |
| 7:5057382:G:GT | donor_gain | 0.9900 |
| 7:5057680:ACAGG:A | acceptor_loss | 0.9900 |
| 7:5057681:CAGG:C | acceptor_loss | 0.9900 |
| 7:5057682:A:AG | acceptor_gain | 0.9900 |
| 7:5057682:A:C | acceptor_loss | 0.9900 |
| 7:5057682:A:T | acceptor_loss | 0.9900 |
| 7:5057682:AG:A | acceptor_gain | 0.9900 |
| 7:5057683:G:GA | acceptor_loss | 0.9900 |
| 7:5057683:G:GC | acceptor_loss | 0.9900 |
| 7:5057683:G:GG | acceptor_gain | 0.9900 |
| 7:5057683:GG:G | acceptor_gain | 0.9900 |
| 7:5057683:GGAT:G | acceptor_gain | 0.9900 |
| 7:5057777:CAGG:C | donor_loss | 0.9900 |
| 7:5057777:CAGGT:C | donor_loss | 0.9900 |
| 7:5057779:GGTA:G | donor_loss | 0.9900 |
| 7:5057781:T:A | donor_loss | 0.9900 |
| 7:5063693:A:AG | acceptor_gain | 0.9900 |
| 7:5063694:G:GG | acceptor_gain | 0.9900 |
AlphaMissense
4777 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:5065285:T:C | L610P | 1.000 |
| 7:5065300:G:C | R615P | 1.000 |
| 7:5065350:T:C | F632L | 1.000 |
| 7:5065352:C:A | F632L | 1.000 |
| 7:5065352:C:G | F632L | 1.000 |
| 7:5065369:T:C | L638P | 1.000 |
| 7:5065434:T:C | F660L | 1.000 |
| 7:5065436:T:A | F660L | 1.000 |
| 7:5065436:T:G | F660L | 1.000 |
| 7:5065453:T:C | L666P | 1.000 |
| 7:5064432:T:C | F326L | 0.999 |
| 7:5064434:T:A | F326L | 0.999 |
| 7:5064434:T:G | F326L | 0.999 |
| 7:5064516:T:C | F354L | 0.999 |
| 7:5064518:C:A | F354L | 0.999 |
| 7:5064518:C:G | F354L | 0.999 |
| 7:5064535:T:C | L360P | 0.999 |
| 7:5064600:T:C | F382L | 0.999 |
| 7:5064602:C:A | F382L | 0.999 |
| 7:5064602:C:G | F382L | 0.999 |
| 7:5064787:T:C | L444P | 0.999 |
| 7:5065182:T:C | F576L | 0.999 |
| 7:5065184:T:A | F576L | 0.999 |
| 7:5065184:T:G | F576L | 0.999 |
| 7:5065209:C:G | H585D | 0.999 |
| 7:5065211:T:A | H585Q | 0.999 |
| 7:5065211:T:G | H585Q | 0.999 |
| 7:5065266:T:C | F604L | 0.999 |
| 7:5065268:C:A | F604L | 0.999 |
| 7:5065268:C:G | F604L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000160919 (7:5052884 C>A,T), RS1000215845 (7:5055794 G>C,T), RS1000312755 (7:5062396 G>C), RS1000367107 (7:5047179 C>T), RS1000434667 (7:5057904 T>A,G), RS1000439611 (7:5048371 A>C), RS1000556122 (7:5067615 C>T), RS1000824166 (7:5057019 A>G), RS1000874391 (7:5061915 A>T), RS1000889929 (7:5058146 C>G), RS1001161061 (7:5066413 A>C,G,T), RS1001163073 (7:5053950 T>C), RS1001495148 (7:5059280 T>C), RS1001525881 (7:5062733 C>A,G,T), RS1001737566 (7:5069819 T>C)
Disease associations
OMIM: gene MIM:608191 | 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
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| quercitrin | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Doxorubicin | affects expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Mercuric Chloride | decreases expression | 1 |
| Naphthoquinones | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XV76 | HEK293 eGFP-RBAK | Transformed cell line | Female |
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 |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.