ANKRD30A
gene geneOn this page
Also known as NY-BR-1
Summary
ANKRD30A (ankyrin repeat domain 30A, HGNC:17234) is a protein-coding gene on chromosome 10p11.21, encoding Ankyrin repeat domain-containing protein 30A (Q9BXX3).
This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression.
Source: NCBI Gene 91074 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 204 total — 1 pathogenic
- MANE Select transcript:
NM_052997
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17234 |
| Approved symbol | ANKRD30A |
| Name | ankyrin repeat domain 30A |
| Location | 10p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NY-BR-1 |
| Ensembl gene | ENSG00000148513 |
| Ensembl biotype | protein_coding |
| OMIM | 610856 |
| Entrez | 91074 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000361713, ENST00000374660, ENST00000475522, ENST00000602533, ENST00000696674
RefSeq mRNA: 1 — MANE Select: NM_052997
NM_052997
CCDS: CCDS7193
Canonical transcript exons
ENST00000361713 — 36 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000985684 | 37130205 | 37130378 |
| ENSE00000985688 | 37141718 | 37142290 |
| ENSE00000985713 | 37218980 | 37219897 |
| ENSE00000993157 | 37232499 | 37232567 |
| ENSE00001436047 | 37231461 | 37231680 |
| ENSE00001685942 | 37158392 | 37158420 |
| ENSE00001713818 | 37216181 | 37216394 |
| ENSE00001721666 | 37133916 | 37134053 |
| ENSE00001723869 | 37129893 | 37130007 |
| ENSE00001726380 | 37199727 | 37199788 |
| ENSE00001728990 | 37136607 | 37136671 |
| ENSE00001776434 | 37144995 | 37145056 |
| ENSE00001803357 | 37147370 | 37147457 |
| ENSE00001805490 | 37217695 | 37217878 |
| ENSE00002434878 | 37169652 | 37169724 |
| ENSE00002438683 | 37152060 | 37152121 |
| ENSE00002445565 | 37149651 | 37149679 |
| ENSE00002455706 | 37132240 | 37132346 |
| ENSE00002460902 | 37166605 | 37166695 |
| ENSE00002468899 | 37193186 | 37193258 |
| ENSE00002474410 | 37165094 | 37165155 |
| ENSE00002474713 | 37158514 | 37158586 |
| ENSE00002480718 | 37149777 | 37149849 |
| ENSE00002492764 | 37153572 | 37153662 |
| ENSE00002504017 | 37169530 | 37169558 |
| ENSE00002504941 | 37197408 | 37197480 |
| ENSE00002506216 | 37176157 | 37176218 |
| ENSE00002511787 | 37162776 | 37162848 |
| ENSE00002515500 | 37197281 | 37197309 |
| ENSE00002518724 | 37173712 | 37173740 |
| ENSE00002526904 | 37173839 | 37173911 |
| ENSE00002529228 | 37201235 | 37201325 |
| ENSE00002532697 | 37162649 | 37162677 |
| ENSE00003560142 | 37189467 | 37189557 |
| ENSE00003644489 | 37193064 | 37193092 |
| ENSE00003893764 | 37125598 | 37126008 |
Expression profiles
Bgee: expression breadth broad, 69 present calls, max score 86.14.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0218 / max 12.6304, expressed in 6 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 104700 | 0.0218 | 6 |
Top tissues by expression
217 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelium of mammary gland | UBERON:0003244 | 86.14 | gold quality |
| mammary duct | UBERON:0001765 | 86.07 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.37 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 76.21 | gold quality |
| mammary gland | UBERON:0001911 | 76.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.19 | gold quality |
| sperm | CL:0000019 | 58.00 | gold quality |
| testis | UBERON:0000473 | 55.29 | gold quality |
| right testis | UBERON:0004534 | 54.64 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 53.66 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| left testis | UBERON:0004533 | 53.46 | gold quality |
| pancreatic ductal cell | CL:0002079 | 51.80 | silver quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| adult organism | UBERON:0007023 | 50.17 | gold quality |
| nipple | UBERON:0002030 | 49.12 | silver quality |
| deltoid | UBERON:0001476 | 48.22 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| buccal mucosa cell | CL:0002336 | 46.95 | gold quality |
| ileal mucosa | UBERON:0000331 | 46.59 | silver quality |
| tibialis anterior | UBERON:0001385 | 46.53 | silver quality |
| quadriceps femoris | UBERON:0001377 | 46.39 | gold quality |
| vastus lateralis | UBERON:0001379 | 45.40 | gold quality |
| colonic epithelium | UBERON:0000397 | 45.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 45.09 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 43.55 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 43.42 | silver quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10885 | yes | 2819.22 |
| E-MTAB-10855 | yes | 2375.54 |
| E-CURD-7 | yes | 2261.49 |
| E-ENAD-21 | yes | 2261.49 |
| E-MTAB-9841 | yes | 1506.08 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1
miRNA regulators (miRDB)
21 targeting ANKRD30A, 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-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-6878-3P | 99.24 | 64.23 | 920 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
| HSA-MIR-491-3P | 98.88 | 68.86 | 1224 |
| HSA-MIR-873-5P | 98.84 | 66.90 | 1348 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-5047 | 98.64 | 68.62 | 1035 |
| HSA-MIR-3944-5P | 98.50 | 67.55 | 997 |
| HSA-MIR-654-3P | 98.38 | 67.61 | 905 |
| HSA-MIR-1914-5P | 97.83 | 66.21 | 807 |
| HSA-MIR-3663-5P | 97.01 | 64.84 | 713 |
Literature-anchored findings (GeneRIF, showing 10)
- In this study we extended the expression analysis to various other normal and tumor tissues and found inconsistent expression of NY-BR-1 in normal prostate, but consistent NY-BR-1 mRNA expression in 32% of prostate cancers, but not in other tumor types (PMID:16335914)
- NY-BR-1 is a differentiation antigen of the breast, which is present in normal and tumorous mammary epithelium. (PMID:16675566)
- The strong expression of NY-BR-1 in breast tumors, its cytoplasmic and membrane localization and accessibility to an ectopically applied antibody now suggest to pursue NY-BR-1 as a potential target for antibody-based therapies in breast cancer patients. (PMID:17330232)
- testing demonstrates NY-BR-1 in a mostly focal fashion in the epithelia of ducts and acini of the mammary gland. In tumors, homogenous staining can be seen in almost all ductal carcinomas in situ and/or the intraductal component of invasive carcinomas. (PMID:17536312)
- We identified estrogen-response element (ERE)-like sequences nearby the NY-BR-1 promoter region, suggesting that NY-BR-1 expression might be regulated through estrogen receptors. (PMID:18041742)
- The exclusive expression of Cancer-testis antigens in tumor tissues as well as the frequent expression of NY-BR-1 could define new targets for specific breast cancer therapies. (PMID:23731661)
- Results revealed a significant difference in NY-BR-1 Ag expression between benign and malignant breast cancer patients (PMID:26415367)
- Over 2800 SNPs are recorded in the dbSNP and NHLBI Exome Sequencing Project (ESP) databases for the NY-BR-1 gene. (PMID:27863482)
- Authors found a high sensitivity for all the markers analyzed. Moreover, the expression of NY-BR-1 and GATA-3 seemed the most effective for labelling male breast cancer in primary and metastatic setting. (PMID:29116378)
- This observation was confirmed in four independent cohorts, GSE22138, GSE54467, GSE65904 and E-MTAB-4725. In addition, the melanoma score was independent of most clinically used indicators. (PMID:31786890)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-272n13.3 | ENSDARG00000099768 |
| drosophila_melanogaster | CG8679 | FBGN0032934 |
| drosophila_melanogaster | CG42391 | FBGN0259737 |
| caenorhabditis_elegans | lem-3 | WBGENE00002276 |
| caenorhabditis_elegans | WBGENE00019483 | |
| caenorhabditis_elegans | WBGENE00206377 |
Paralogs (7): ANKRD26 (ENSG00000107890), ANKRD30BL (ENSG00000163046), ANKRD18A (ENSG00000180071), ANKRD30B (ENSG00000180777), ANKRD62 (ENSG00000181626), ANKRD18B (ENSG00000230453), ANKRD20A1 (ENSG00000260691)
Protein
Protein identifiers
Ankyrin repeat domain-containing protein 30A — Q9BXX3 (reviewed: Q9BXX3)
Alternative names: Serologically defined breast cancer antigen NY-BR-1
All UniProt accessions (4): Q9BXX3, A0A8Q3WLF6, Q5W026, R4GNA2
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Mainly expressed in breast and testis. A very faint signal is detected in placenta. Also expressed in many breast cancer cells.
RefSeq proteins (1): NP_443723* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR039497 | CC144C-like_CC_dom | Domain |
| IPR050657 |
Pfam: PF12796, PF14915
UniProt features (25 total): repeat 6, compositionally biased region 6, region of interest 4, sequence variant 4, coiled-coil region 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6R2L | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXX3-F1 | 56.16 | 0.14 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9927418 | Developmental Lineage of Mammary Gland Luminal Epithelial Cells |
| R-HSA-9927426 | Developmental Lineage of Mammary Gland Alveolar Cells |
MSigDB gene sets: 24 (showing top):
ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, chr10p11, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_UP, SALL4_TARGET_GENES, MIR4659A_3P_MIR4659B_3P, MIR1305, MIR6875_3P, MIR519E_5P, MIR515_5P, MIR519D_5P, MIR491_3P, MIR654_3P, MEBARKI_HCC_PROGENITOR_WNT_DN, DESCARTES_FETAL_PLACENTA_SMOOTH_MUSCLE_CELLS
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Lineages of the Mammary Gland | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
1660 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANKRD30A | MAP4 | P27816 | 438 |
| ANKRD30A | CD8A | P01732 | 433 |
| ANKRD30A | CCNY | Q8ND76 | 423 |
| ANKRD30A | SCGB2A2 | Q13296 | 410 |
| ANKRD30A | RANBP2 | P49792 | 406 |
| ANKRD30A | RNF225 | M0QZC1 | 400 |
| ANKRD30A | SCGB2A1 | O75556 | 387 |
| ANKRD30A | ASZ1 | Q8WWH4 | 377 |
| ANKRD30A | TPP2 | P29144 | 348 |
| ANKRD30A | POTEE | Q6S8J3 | 345 |
| ANKRD30A | LGMN | Q99538 | 340 |
| ANKRD30A | CTAG1A | P78358 | 339 |
| ANKRD30A | LNPEP | Q9UIQ6 | 335 |
| ANKRD30A | ANP32E | Q9BTT0 | 323 |
| ANKRD30A | MAGEA1 | P43355 | 320 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANKRD30A | SCLT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (10): ANKRD30A (Affinity Capture-MS), SCLT1 (Affinity Capture-MS), RAB3IP (Affinity Capture-MS), ANKRD30B (Affinity Capture-MS), SPAG5 (Affinity Capture-MS), NPM1 (Cross-Linking-MS (XL-MS)), ANKRD30A (Cross-Linking-MS (XL-MS)), TFIP11 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), ANKRD30A (Reconstituted Complex)
ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0U1RQI7, A0A1D9BZF0, A6NJU9, A6NKU9, A6NNC1, A6QL64, A8MRT5, B2SU53, B4DH59, B5DUH6, C9JG80, E5RHQ5, F8W0I5, P01068, P02895, P06916, P07907, P0DKL2, P0DPF3, P0DRJ4, P13208, P14417, P32072, P83060, Q26755, Q3BBV0, Q3BBV2, Q4ZJY7, Q4ZJZ0, Q4ZJZ1, Q4ZJZ3, Q5TAG4, Q5TI25, Q6P3W6, Q6RY98, Q7T3L1, Q86SG3, Q86T75
Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q3MJ40, Q4R3S3, Q4UJ75, Q5CZ79, Q5JPF3, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IYA2, Q92527, Q9BXX2, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q8IVF6, A6QL64, Q8N2N9, Q8NF67, Q96IX9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
204 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 172 |
| Likely benign | 18 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146088 | GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3 | Pathogenic |
SpliceAI
6159 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:37125967:G:GT | donor_gain | 1.0000 |
| 10:37126006:GAG:G | donor_gain | 1.0000 |
| 10:37130374:ACAAG:A | donor_loss | 1.0000 |
| 10:37130375:CAAGG:C | donor_loss | 1.0000 |
| 10:37130376:AAG:A | donor_loss | 1.0000 |
| 10:37130377:AGGTA:A | donor_loss | 1.0000 |
| 10:37130378:GG:G | donor_loss | 1.0000 |
| 10:37130380:T:C | donor_loss | 1.0000 |
| 10:37132330:GTTAA:G | donor_gain | 1.0000 |
| 10:37132331:TTAAT:T | donor_gain | 1.0000 |
| 10:37132334:A:AG | donor_gain | 1.0000 |
| 10:37132334:A:G | donor_gain | 1.0000 |
| 10:37133911:TTTA:T | acceptor_loss | 1.0000 |
| 10:37133914:A:AG | acceptor_gain | 1.0000 |
| 10:37133914:AGCAC:A | acceptor_loss | 1.0000 |
| 10:37133915:G:GA | acceptor_gain | 1.0000 |
| 10:37133915:GC:G | acceptor_gain | 1.0000 |
| 10:37133915:GCA:G | acceptor_gain | 1.0000 |
| 10:37133915:GCAC:G | acceptor_gain | 1.0000 |
| 10:37133915:GCACA:G | acceptor_gain | 1.0000 |
| 10:37134009:TG:T | donor_gain | 1.0000 |
| 10:37134010:G:GT | donor_gain | 1.0000 |
| 10:37134010:GG:G | donor_gain | 1.0000 |
| 10:37134049:CATCA:C | donor_gain | 1.0000 |
| 10:37134050:ATCA:A | donor_gain | 1.0000 |
| 10:37134051:TCA:T | donor_gain | 1.0000 |
| 10:37134052:CA:C | donor_gain | 1.0000 |
| 10:37134052:CAG:C | donor_loss | 1.0000 |
| 10:37134054:G:GA | donor_loss | 1.0000 |
| 10:37134054:G:GG | donor_gain | 1.0000 |
AlphaMissense
8973 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:37130205:G:C | A113P | 0.993 |
| 10:37129914:T:G | C81W | 0.992 |
| 10:37129997:C:A | P109H | 0.991 |
| 10:37130242:T:C | L125P | 0.991 |
| 10:37129912:T:C | C81R | 0.990 |
| 10:37129946:T:C | L92P | 0.990 |
| 10:37130304:G:C | A146P | 0.990 |
| 10:37133932:G:C | A212P | 0.990 |
| 10:37129893:G:C | R74S | 0.989 |
| 10:37129893:G:T | R74S | 0.989 |
| 10:37130274:G:C | D136H | 0.989 |
| 10:37130275:A:T | D136V | 0.989 |
| 10:37130341:T:C | L158P | 0.989 |
| 10:37129913:G:A | C81Y | 0.988 |
| 10:37133969:T:C | L224P | 0.988 |
| 10:37125995:G:C | D70H | 0.987 |
| 10:37125996:A:T | D70V | 0.987 |
| 10:37129898:C:A | A76D | 0.987 |
| 10:37125997:C:A | D70E | 0.986 |
| 10:37125997:C:G | D70E | 0.986 |
| 10:37134032:C:A | A245D | 0.986 |
| 10:37129997:C:G | P109R | 0.985 |
| 10:37130242:T:A | L125Q | 0.985 |
| 10:37130305:C:A | A146D | 0.985 |
| 10:37132304:T:C | L192P | 0.985 |
| 10:37129909:G:C | A80P | 0.984 |
| 10:37129978:G:C | D103H | 0.984 |
| 10:37129979:A:T | D103V | 0.984 |
| 10:37130276:T:A | D136E | 0.984 |
| 10:37130276:T:G | D136E | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000038813 (10:37156275 T>A,C), RS1000096137 (10:37242085 A>T), RS1000098746 (10:37249411 GTAAA>G), RS1000110521 (10:37209949 T>C), RS1000114372 (10:37165164 T>G), RS1000182594 (10:37232190 A>C), RS1000218031 (10:37212356 A>C,T), RS1000223793 (10:37221546 T>G), RS1000242244 (10:37225401 T>C), RS1000280693 (10:37255085 T>C), RS1000282833 (10:37243287 A>C,T), RS1000311248 (10:37239174 A>G), RS1000369798 (10:37261014 C>G,T), RS1000404309 (10:37239480 G>A), RS1000419741 (10:37218809 G>A)
Disease associations
OMIM: gene MIM:610856 | disease phenotypes: MIM:114480
GenCC curated gene-disease
Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), hereditary breast carcinoma (MONDO:0016419)
Orphanet (1): Hereditary breast cancer (Orphanet:227535)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000080_8 | Hemostatic factors and hematological phenotypes | 6.000000e-06 |
| GCST000189_28 | Protein quantitative trait loci | 3.000000e-06 |
| GCST000274_6 | Metabolite levels | 3.000000e-09 |
| GCST001588_12 | Periodontal microbiota | 2.000000e-06 |
| GCST002576_1 | Epithelial ovarian cancer | 3.000000e-08 |
| GCST003097_42 | Pediatric autoimmune diseases | 8.000000e-11 |
| GCST005024_84 | Pursuit maintenance gain | 2.000000e-06 |
| GCST005288_2 | Extrinsic epigenetic age acceleration | 7.000000e-11 |
| GCST006275_2 | Vestibular neuritis | 1.000000e-09 |
| GCST006484_7 | Type 2 diabetes | 9.000000e-07 |
| GCST012299_7 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction (3df) | 4.000000e-06 |
| GCST012308_11 | Schizophrenia | 2.000000e-06 |
| GCST012309_12 | Schizophrenia | 2.000000e-06 |
| GCST012310_5 | Schizophrenia x sex interaction | 2.000000e-06 |
| GCST012311_17 | Schizophrenia x sex interaction | 2.000000e-06 |
| GCST012322_40 | Triglyceride levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder | 1.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0000473 | epigenetic status |
| EFO:0022597 | aging |
| EFO:0008343 | sex interaction measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
| C562840 | Breast Cancer, Familial (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| pirinixic acid | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Asbestos, Amosite | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| Genistein | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A2HI | EO-NY | Cancer cell line | Female |
| CVCL_A2HJ | EO-NY/PX458/#1 | Cancer cell line | Female |
| CVCL_D7K1 | Ubigene A-549 ANKRD30A KO | Cancer cell line | Male |
Clinical trials (associated diseases)
21 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
| NCT00040222 | Not specified | COMPLETED | Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer |
| NCT02557776 | Not specified | COMPLETED | Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer |
| NCT03495544 | Not specified | UNKNOWN | Study Estimating Association Between Germline Mutations and PD-L1 Expression in Breast Cancer |
| NCT03959267 | Not specified | COMPLETED | Testing a Culturally Adapted Telephone Genetic Counseling Intervention |
| NCT04058418 | Not specified | COMPLETED | Specialist Recommendation on FBC (Familial Breast Cancer) Chemoprevention Prescribing |
| NCT04125914 | Not specified | ACTIVE_NOT_RECRUITING | Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families |
| NCT04169542 | Not specified | RECRUITING | Impact of COVID-19 Pandemic on Out-of-Pocket Costs, Lost Wages, and Unemployment in Patients With Breast Cancer Undergoing Breast Surgery |
| NCT04197856 | Not specified | ACTIVE_NOT_RECRUITING | Direct Information to At-risk Relatives |
| NCT07292246 | Not specified | RECRUITING | A Prospective CohorT Study of HandX - Assisted ENdoscopic MAstectomy: Feasibility and Safety (ATHENA I Study) |
| NCT07307664 | Not specified | RECRUITING | Increasing Germline Genetic Testing for Patients With Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ankylosing spondylitis, autoimmune disease, autoimmune thyroid disease, breast ductal adenocarcinoma, celiac disease, common variable immunodeficiency, hereditary breast carcinoma, juvenile idiopathic arthritis, malignant epithelial tumor of ovary, periodontitis, type 1 diabetes mellitus, vestibular neuronitis