NBPF3
geneOn this page
Also known as AE2
Summary
NBPF3 (NBPF member 3, HGNC:25076) is a protein-coding gene on chromosome 1p36.12, encoding NBPF family member NBPF3 (Q9H094).
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes.
Source: NCBI Gene 84224 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 123 total
- MANE Select transcript:
NM_032264
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25076 |
| Approved symbol | NBPF3 |
| Name | NBPF member 3 |
| Location | 1p36.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AE2 |
| Ensembl gene | ENSG00000142794 |
| Ensembl biotype | protein_coding |
| OMIM | 612992 |
| Entrez | 84224 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 8 protein_coding, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay
ENST00000318220, ENST00000318249, ENST00000342104, ENST00000434838, ENST00000454000, ENST00000467103, ENST00000469876, ENST00000475869, ENST00000477050, ENST00000478653, ENST00000485941, ENST00000486229, ENST00000619554, ENST00000912011, ENST00000912012, ENST00000912013, ENST00000944218
RefSeq mRNA: 10 — MANE Select: NM_032264
NM_001256416, NM_001256417, NM_001330381, NM_001377491, NM_001377492, NM_001377493, NM_001377494, NM_001377495, NM_001377496, NM_032264
CCDS: CCDS216, CCDS57976, CCDS57977, CCDS81275
Canonical transcript exons
ENST00000318249 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001421807 | 21440137 | 21440348 |
| ENSE00001814163 | 21483143 | 21484900 |
| ENSE00003487448 | 21468688 | 21468897 |
| ENSE00003497364 | 21479349 | 21479400 |
| ENSE00003524606 | 21480930 | 21480981 |
| ENSE00003531648 | 21482484 | 21482535 |
| ENSE00003569827 | 21474900 | 21474951 |
| ENSE00003594154 | 21480051 | 21480223 |
| ENSE00003642335 | 21444948 | 21445219 |
| ENSE00003655848 | 21481597 | 21481769 |
| ENSE00003723776 | 21471569 | 21471783 |
| ENSE00003733610 | 21478144 | 21478307 |
| ENSE00003734729 | 21470632 | 21470734 |
| ENSE00003747501 | 21473380 | 21473585 |
| ENSE00003753961 | 21472843 | 21472915 |
Expression profiles
Bgee: expression breadth ubiquitous, 159 present calls, max score 88.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2322 / max 143.0471, expressed in 1539 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1158 | 2.5231 | 1364 |
| 1159 | 1.4608 | 889 |
| 1160 | 0.2224 | 90 |
| 1161 | 0.0259 | 4 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 88.20 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.83 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.08 | gold quality |
| right testis | UBERON:0004534 | 82.80 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.76 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.97 | gold quality |
| left testis | UBERON:0004533 | 81.97 | gold quality |
| sural nerve | UBERON:0015488 | 81.83 | gold quality |
| right adrenal gland | UBERON:0001233 | 81.36 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 80.67 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.64 | gold quality |
| ventricular zone | UBERON:0003053 | 80.60 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.57 | gold quality |
| adrenal tissue | UBERON:0018303 | 80.25 | gold quality |
| testis | UBERON:0000473 | 79.93 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 79.86 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 79.69 | gold quality |
| cerebellar cortex | UBERON:0002129 | 79.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 79.08 | gold quality |
| adrenal gland | UBERON:0002369 | 79.04 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 78.78 | gold quality |
| cortical plate | UBERON:0005343 | 78.76 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 78.33 | gold quality |
| adrenal cortex | UBERON:0001235 | 78.28 | gold quality |
| body of stomach | UBERON:0001161 | 78.26 | gold quality |
| endocervix | UBERON:0000458 | 78.18 | gold quality |
| rectum | UBERON:0001052 | 78.15 | gold quality |
| mucosa of stomach | UBERON:0001199 | 77.82 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.70 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 77.66 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting NBPF3, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-142-3P | 99.62 | 71.30 | 974 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-549A-3P | 99.54 | 68.17 | 825 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
Literature-anchored findings (GeneRIF, showing 2)
- Study shows that an NBPF gene lacking this insertion, NBPF3, is expressed in a variety of tissues; thus the effect of HERV(K) LTR insertion on NBPF gene expression remains unknown. (PMID:17391723)
- failed to find a significant association between nbpf3 and schizophrenia. (PMID:29688875)
Cross-species orthologs
0 orthologs
Paralogs (14): NBPF20 (ENSG00000162825), NBPF6 (ENSG00000186086), NBPF4 (ENSG00000196427), NBPF1 (ENSG00000219481), NBPF11 (ENSG00000263956), NBPF15 (ENSG00000266338), NBPF12 (ENSG00000268043), NBPF9 (ENSG00000269713), NBPF8 (ENSG00000270231), NBPF14 (ENSG00000270629), (ENSG00000271254), NBPF19 (ENSG00000271383), NBPF10 (ENSG00000271425), NBPF26 (ENSG00000273136)
Protein
Protein identifiers
NBPF family member NBPF3 — Q9H094 (reviewed: Q9H094)
Alternative names: Neuroblastoma breakpoint family member 3, Protein AE2, Protein SHIIIa4
All UniProt accessions (4): Q9H094, A0A087WUB7, A0A087WUY9, X6RCV0
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line.
Miscellaneous. Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.
Similarity. Belongs to the NBPF family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H094-1 | 1 | yes |
| Q9H094-2 | 2 | |
| Q9H094-3 | 3 | |
| Q9H094-4 | 4 | |
| Q9H094-5 | 5 |
RefSeq proteins (10): NP_001243345, NP_001243346, NP_001317310, NP_001364420, NP_001364421, NP_001364422, NP_001364423, NP_001364424, NP_001364425, NP_115640* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010630 | Olduvai_dom | Domain |
| IPR055306 | NBPF | Family |
Pfam: PF06758
UniProt features (27 total): sequence conflict 6, domain 5, splice variant 5, sequence variant 4, region of interest 3, compositionally biased region 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H094-F1 | 47.16 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 44 (showing top):
MODULE_480, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MODULE_427, MODULE_192, chr1p36, LU_EZH2_TARGETS_DN, RBM34_TARGET_GENES, ZFP91_TARGET_GENES, ZSCAN21_TARGET_GENES, MIR3529_3P, MIR4251, MIR1207_5P, MIR4763_3P, MIR4692, MIR4514
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
574 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NBPF3 | ALPL | P05186 | 886 |
| NBPF3 | ZNF490 | Q9ULM2 | 565 |
| NBPF3 | TBC1D7 | Q9P0N9 | 447 |
| NBPF3 | MSH3 | P20585 | 404 |
| NBPF3 | ZNF232 | Q9UNY5 | 375 |
| NBPF3 | NBDY | A0A0U1RRE5 | 369 |
| NBPF3 | ZNF438 | Q7Z4V0 | 367 |
| NBPF3 | ZNG1A | Q9BRT8 | 364 |
| NBPF3 | ZNF593 | O00488 | 352 |
| NBPF3 | RHBDD2 | Q6NTF9 | 332 |
| NBPF3 | SERHL2 | Q9H4I8 | 330 |
| NBPF3 | PMFBP1 | Q8TBY8 | 313 |
| NBPF3 | ZNF174 | Q15697 | 305 |
| NBPF3 | SLX4IP | Q5VYV7 | 305 |
| NBPF3 | RRP7A | Q9Y3A4 | 299 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NBPF3 | NBPF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NBPF3 | TSEN15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EWSR1 | NBPF3 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (9): NBPF3 (Two-hybrid), NBPF1 (Affinity Capture-MS), TSEN15 (Two-hybrid), NBPF3 (Two-hybrid), NBPF1 (Affinity Capture-MS), NBPF3 (Affinity Capture-RNA), NBPF1 (Affinity Capture-MS), NBPF3 (Affinity Capture-MS), APP (Reconstituted Complex)
ESM2 similar proteins: A0A0J9YY54, A0A494C086, A0A494C0Z2, A0A494C191, A6NHP3, A6NIY4, A6NJR5, A6NNV3, B4DH59, F6SZT2, P0C6Y7, P0CI01, P0DKJ7, P0DKJ8, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, P79386, Q08AG5, Q13342, Q16666, Q3BBV2, Q495Y8, Q587J8, Q5JRC9, Q5QGU6, Q5RD14, Q5RKG3, Q63HK3, Q6ITT4, Q7TQI8, Q86T75, Q8IWY8, Q8N660, Q8NFV5
Diamond homologs: A0A087WUL8, B4DH59, P0C2Y1, P0DPF2, P0DPF3, Q32LC2, Q3BBV0, Q3BBV2, Q5TAG4, Q5TI25, Q5VU43, Q5VWK0, Q6P3W6, Q86T75, Q86XG9, Q8N660, Q96M43, Q9H094, A0A096LNW5, A2RUV0, G3I6Z6, O35516, P0DPK3, P0DPK4, P10040, P21783, P46530, P46531, Q01705, Q04721, Q04756, Q07008, Q20911, Q7Z3S9, Q80YT7, Q99466, Q9QW30, Q9UM47, Q19UN5, Q8K389
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
123 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 8 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2336 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:21440344:CTCAG:C | donor_loss | 1.0000 |
| 1:21440347:AGGTG:A | donor_loss | 1.0000 |
| 1:21440348:GGTG:G | donor_loss | 1.0000 |
| 1:21466155:GG:G | donor_gain | 1.0000 |
| 1:21466156:GG:G | donor_gain | 1.0000 |
| 1:21468685:CA:C | acceptor_loss | 1.0000 |
| 1:21468686:A:AG | acceptor_gain | 1.0000 |
| 1:21468687:G:GA | acceptor_gain | 1.0000 |
| 1:21468687:GT:G | acceptor_gain | 1.0000 |
| 1:21468687:GTC:G | acceptor_gain | 1.0000 |
| 1:21468687:GTCC:G | acceptor_gain | 1.0000 |
| 1:21468687:GTCCC:G | acceptor_gain | 1.0000 |
| 1:21468893:TTACG:T | donor_gain | 1.0000 |
| 1:21468894:TACG:T | donor_gain | 1.0000 |
| 1:21468894:TACGG:T | donor_loss | 1.0000 |
| 1:21468896:CG:C | donor_gain | 1.0000 |
| 1:21468897:GG:G | donor_gain | 1.0000 |
| 1:21468897:GGT:G | donor_loss | 1.0000 |
| 1:21468898:G:GG | donor_gain | 1.0000 |
| 1:21468898:GT:G | donor_loss | 1.0000 |
| 1:21468899:T:A | donor_loss | 1.0000 |
| 1:21470627:CTCA:C | acceptor_loss | 1.0000 |
| 1:21470628:TCAGA:T | acceptor_loss | 1.0000 |
| 1:21470629:CAG:C | acceptor_loss | 1.0000 |
| 1:21470630:A:AG | acceptor_gain | 1.0000 |
| 1:21470631:G:GG | acceptor_gain | 1.0000 |
| 1:21470631:GA:G | acceptor_gain | 1.0000 |
| 1:21470631:GAC:G | acceptor_gain | 1.0000 |
| 1:21470631:GACT:G | acceptor_gain | 1.0000 |
| 1:21470733:AGGT:A | donor_loss | 1.0000 |
AlphaMissense
4168 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:21471670:T:C | L183P | 0.910 |
| 1:21471607:T:C | L162P | 0.905 |
| 1:21471763:T:C | L214P | 0.894 |
| 1:21471658:T:C | L179S | 0.890 |
| 1:21483321:T:C | F613L | 0.881 |
| 1:21483323:T:A | F613L | 0.881 |
| 1:21483323:T:G | F613L | 0.881 |
| 1:21483357:T:C | F625L | 0.879 |
| 1:21483359:C:A | F625L | 0.879 |
| 1:21483359:C:G | F625L | 0.879 |
| 1:21483375:T:C | F631L | 0.861 |
| 1:21483377:C:A | F631L | 0.861 |
| 1:21483377:C:G | F631L | 0.861 |
| 1:21471753:G:C | A211P | 0.859 |
| 1:21445114:T:C | F10L | 0.854 |
| 1:21445116:C:A | F10L | 0.854 |
| 1:21445116:C:G | F10L | 0.854 |
| 1:21468725:G:A | M57I | 0.854 |
| 1:21468725:G:C | M57I | 0.854 |
| 1:21468725:G:T | M57I | 0.854 |
| 1:21471741:G:A | G207R | 0.847 |
| 1:21471741:G:C | G207R | 0.847 |
| 1:21468825:T:C | F91L | 0.845 |
| 1:21468827:C:A | F91L | 0.845 |
| 1:21468827:C:G | F91L | 0.845 |
| 1:21471775:T:C | L218P | 0.838 |
| 1:21471586:T:A | V155D | 0.835 |
| 1:21471751:T:C | L210P | 0.834 |
| 1:21471645:G:C | A175P | 0.822 |
| 1:21471636:G:T | G172W | 0.820 |
dbSNP variants (sampled 300 via entrez): RS1000086872 (1:21468210 G>A), RS1000360648 (1:21480079 G>A), RS1000367836 (1:21459515 A>G), RS1000375296 (1:21481091 C>G), RS1000642574 (1:21473732 C>G,T), RS1000672243 (1:21479518 T>C), RS1000711571 (1:21447237 A>G), RS1000781960 (1:21453954 CAG>C), RS1000961790 (1:21461211 T>C), RS1001013043 (1:21469674 A>G,T), RS1001059592 (1:21447475 T>C), RS1001086985 (1:21469319 T>G), RS1001168703 (1:21438003 A>G), RS1001260 (1:21467151 G>A), RS1001261 (1:21467242 C>G)
Disease associations
OMIM: gene MIM:612992 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): hereditary breast ovarian cancer syndrome (MONDO:0003582)
Orphanet (1): Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000248_1 | Liver enzyme levels | 7.000000e-15 |
| GCST000483_4 | Folate pathway vitamin levels | 4.000000e-11 |
| GCST000703_1 | Phosphorus levels | 1.000000e-27 |
| GCST001276_11 | Liver enzyme levels (alkaline phosphatase) | 2.000000e-50 |
| GCST002559_1 | Vitamin B levels in ischemic stroke | 2.000000e-07 |
| GCST005981_7 | Phosphorus levels | 7.000000e-18 |
| GCST007260_1 | B6 vitamer levels (multivariate analysis) | 8.000000e-10 |
| GCST007261_1 | Cerebrospinal fluid pyridoxal phosphate levels | 2.000000e-07 |
| GCST007262_1 | Plasma pyridoxal phosphate levels | 6.000000e-06 |
| GCST007263_1 | Cerebrospinal fluid pyridoxal phosphate to pyridoxal ratio | 4.000000e-09 |
| GCST007264_1 | Plasma pyridoxal phosphate to pyridoxal ratio | 4.000000e-09 |
| GCST007265_1 | Plasma pyridoxic acid to pyridoxal phosphate ratio | 3.000000e-06 |
| GCST009167_1 | Vitamin levels | 7.000000e-09 |
| GCST009652_38 | Serum alkaline phosphatase levels | 2.000000e-118 |
| GCST010396_201 | Gut microbiota (bacterial taxa, hurdle binary method) | 4.000000e-06 |
| GCST012020_64 | Serum metabolite levels | 3.000000e-13 |
| GCST90013406_1 | Liver enzyme levels (alkaline phosphatase) | 1.000000e-300 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0004621 | vitamin B6 measurement |
| EFO:0004861 | phosphorus measurement |
| EFO:0004729 | vitamin measurement |
| EFO:0007874 | gut microbiome measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D061325 | Hereditary Breast and Ovarian Cancer Syndrome | C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, increases methylation | 3 |
| sodium arsenite | decreases expression | 2 |
| Benzo(a)pyrene | increases mutagenesis, decreases methylation | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-butenal | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| K 7174 | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Amiodarone | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Disulfiram | affects binding, increases expression | 1 |
| Estradiol | affects expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Ozone | increases abundance, affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
51 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02562170 | PHASE4 | COMPLETED | Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study |
| NCT00673335 | PHASE3 | COMPLETED | Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation |
| NCT00685256 | PHASE3 | COMPLETED | Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children |
| NCT03162276 | PHASE3 | UNKNOWN | Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers |
| NCT00253539 | PHASE2 | COMPLETED | Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer |
| NCT00305695 | PHASE2 | COMPLETED | Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries |
| NCT00321633 | PHASE2 | COMPLETED | Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer |
| NCT01333748 | PHASE2 | COMPLETED | Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer |
| NCT01367639 | PHASE2 | COMPLETED | Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers |
| NCT00535119 | PHASE1 | COMPLETED | Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer |
| NCT00892736 | PHASE1 | COMPLETED | Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy |
| NCT03832985 | EARLY_PHASE1 | COMPLETED | Pediatric Reporting of Adult-Onset Genomic Results |
| NCT00005095 | Not specified | RECRUITING | Specimen and Data Study for Ovarian Cancer Early Detection and Prevention |
| NCT00609505 | Not specified | COMPLETED | Telemedicine vs. Face-to-Face Cancer Genetic Counseling |
| NCT01273909 | Not specified | UNKNOWN | Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment |
| NCT01445275 | Not specified | WITHDRAWN | Cost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199 |
| NCT01608074 | Not specified | ACTIVE_NOT_RECRUITING | Radical Fimbriectomy for Young BRCA Mutation Carriers |
| NCT02087592 | Not specified | COMPLETED | Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers |
| NCT02302742 | Not specified | RECRUITING | Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry |
| NCT02324062 | Not specified | COMPLETED | Cancer Genetics Hereditary Cancer Panel Testing |
| NCT02516540 | Not specified | UNKNOWN | Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers |
| NCT02653105 | Not specified | ACTIVE_NOT_RECRUITING | Women at Risk of Breast Cancer and OLFM4 |
| NCT02705924 | Not specified | TERMINATED | Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk |
| NCT02760849 | Not specified | ACTIVE_NOT_RECRUITING | Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations |
| NCT02786147 | Not specified | COMPLETED | Identification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer |
| NCT02956681 | Not specified | COMPLETED | Statewide Communication to Reach Diverse Low Income Women |
| NCT03015376 | Not specified | UNKNOWN | Inherited Susceptible Genes Among Epithelial Ovarian Cancer |
| NCT03050268 | Not specified | RECRUITING | Familial Investigations of Childhood Cancer Predisposition |
| NCT03075540 | Not specified | COMPLETED | Enhancing At-risk Latina Women’s Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer |
| NCT03124212 | Not specified | RECRUITING | Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland |
| NCT03246841 | Not specified | ACTIVE_NOT_RECRUITING | Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes. |
| NCT03294343 | Not specified | UNKNOWN | Risk-Reducing Surgeries for Hereditary Ovarian Cancer |
| NCT03421327 | Not specified | COMPLETED | Genetic Risk: Whether, When, and How to Tell Adolescents |
| NCT03510689 | Not specified | COMPLETED | Genetics and Heart Health After Cancer Therapy |
| NCT03511690 | Not specified | COMPLETED | Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment |
| NCT03784859 | Not specified | COMPLETED | Tissue Expansion in Breast Reconstruction Without Drains |
| NCT03979612 | Not specified | UNKNOWN | Evaluation of the Adhesion to the GENEPY Network |
| NCT04197856 | Not specified | ACTIVE_NOT_RECRUITING | Direct Information to At-risk Relatives |
| NCT04407611 | Not specified | COMPLETED | Scalable Communication Modalities for Returning Genetic Research Results |
| NCT04508764 | Not specified | TERMINATED | Implementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hereditary breast ovarian cancer syndrome