MED29
gene geneOn this page
Also known as DKFZp434H247MED2
Summary
MED29 (mediator complex subunit 29, HGNC:23074) is a protein-coding gene on chromosome 19q13.2, encoding Mediator of RNA polymerase II transcription subunit 29 (Q9NX70). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. It is a common-essential gene (DepMap: required in 96.0% of cancer cell lines).
MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).
Source: NCBI Gene 55588 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 33 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 96.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_017592
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23074 |
| Approved symbol | MED29 |
| Name | mediator complex subunit 29 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434H247, MED2 |
| Ensembl gene | ENSG00000063322 |
| Ensembl biotype | protein_coding |
| OMIM | 612914 |
| Entrez | 55588 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 nonsense_mediated_decay
ENST00000315588, ENST00000594368, ENST00000596297, ENST00000599417, ENST00000600973, ENST00000615911, ENST00000865179, ENST00000865180
RefSeq mRNA: 2 — MANE Select: NM_017592
NM_001317770, NM_017592
CCDS: CCDS33021, CCDS92614
Canonical transcript exons
ENST00000315588 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000341727 | 39392464 | 39392522 |
| ENSE00001051868 | 39391378 | 39391638 |
| ENSE00001423955 | 39397457 | 39400641 |
| ENSE00003523402 | 39393553 | 39393637 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 93.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.4007 / max 536.7557, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175702 | 58.8035 | 1822 |
| 175705 | 0.3253 | 79 |
| 175701 | 0.1696 | 61 |
| 175704 | 0.1023 | 45 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 93.79 | gold quality |
| amygdala | UBERON:0001876 | 93.75 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.47 | gold quality |
| putamen | UBERON:0001874 | 93.37 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.26 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.99 | gold quality |
| hypothalamus | UBERON:0001898 | 92.86 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.74 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.63 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.62 | gold quality |
| spinal cord | UBERON:0002240 | 92.47 | gold quality |
| substantia nigra | UBERON:0002038 | 92.42 | gold quality |
| medial globus pallidus | UBERON:0002477 | 92.20 | gold quality |
| frontal cortex | UBERON:0001870 | 92.16 | gold quality |
| neocortex | UBERON:0001950 | 92.02 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.95 | gold quality |
| midbrain | UBERON:0001891 | 91.89 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.81 | gold quality |
| forebrain | UBERON:0001890 | 91.51 | gold quality |
| globus pallidus | UBERON:0001875 | 91.50 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.30 | gold quality |
| Ammon’s horn | UBERON:0001954 | 91.12 | gold quality |
| brain | UBERON:0000955 | 91.10 | gold quality |
| temporal lobe | UBERON:0001871 | 91.01 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 90.44 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.41 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.36 | gold quality |
| muscle of leg | UBERON:0001383 | 90.04 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.98 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.30 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
116 targeting MED29, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 6)
- A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex (PMID:14576168)
- IXL is a subunit of the mammalian Mediator complex. (PMID:14576168)
- IXL is a subunit of the mammalian Mediator complex. (PMID:15175163)
- Overexpression of IXL in COS-7 cells inhibits the transcriptional activities of SRE and AP-1, suggesting that the IXL protein may act as a transcriptional suppressor in mitogen-activated protein kinase signaling pathway to mediate cellular functions. (PMID:15555573)
- IXL is required for cancer cell survival in 19q13-amplified tumors. (PMID:17332321)
- CHRDL1 inhibits OSCC metastasis via MAPK signaling-mediated inhibition of MED29. (PMID:39462350)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Med29 | ENSMUSG00000003444 |
Protein
Protein identifiers
Mediator of RNA polymerase II transcription subunit 29 — Q9NX70 (reviewed: Q9NX70)
Alternative names: Intersex-like protein, Mediator complex subunit 29
All UniProt accessions (5): Q9NX70, B4DUA7, M0R0A0, M0R0U2, M0R3F3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
Subunit / interactions. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Associates with the MED18/MED20 heteromer.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed in embryo and adult.
Similarity. Belongs to the Mediator complex subunit 29 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NX70-1 | 1 | yes |
| Q9NX70-2 | 2 |
RefSeq proteins (2): NP_001304699, NP_060062* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021018 | Mediator_Med29_met | Family |
Pfam: PF11568
UniProt features (11 total): helix 3, compositionally biased region 2, splice variant 2, initiator methionine 1, chain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7EMF | ELECTRON MICROSCOPY | 3.5 |
| 8TRH | ELECTRON MICROSCOPY | 3.7 |
| 7ENA | ELECTRON MICROSCOPY | 4.07 |
| 7ENC | ELECTRON MICROSCOPY | 4.13 |
| 8GXS | ELECTRON MICROSCOPY | 4.16 |
| 7ENJ | ELECTRON MICROSCOPY | 4.4 |
| 8T9D | ELECTRON MICROSCOPY | 4.66 |
| 7LBM | ELECTRON MICROSCOPY | 4.8 |
| 8GXQ | ELECTRON MICROSCOPY | 5.04 |
| 8TQW | ELECTRON MICROSCOPY | 8.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NX70-F1 | 73.96 | 0.37 |
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 (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-1989781 | PPARA activates gene expression |
| R-HSA-381340 | Transcriptional regulation of white adipocyte differentiation |
| R-HSA-9833110 | RSV-host interactions |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1430728 | Metabolism |
| R-HSA-1643685 | Disease |
| R-HSA-400206 | Regulation of lipid metabolism by PPARalpha |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9820952 | Respiratory Syncytial Virus Infection Pathway |
| R-HSA-9824446 | Viral Infection Pathways |
| R-HSA-9843745 | Adipogenesis |
MSigDB gene sets: 127 (showing top):
REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MODULE_308, CAGCAGG_MIR370, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MODULE_301, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, KUUSELO_PANCREATIC_CANCER_19Q13_AMPLIFICATION, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, MODULE_188, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)
GO Molecular Function (2): transcription coregulator activity (GO:0003712), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), mediator complex (GO:0016592), core mediator complex (GO:0070847)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Regulation of lipid metabolism by PPARalpha | 1 |
| Adipogenesis | 1 |
| Respiratory Syncytial Virus Infection Pathway | 1 |
| Metabolism of lipids | 1 |
| Metabolism | 1 |
| Disease | 1 |
| Viral Infection Pathways | 1 |
| Infectious disease | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of transcription by RNA polymerase II | 2 |
| transcription initiation at RNA polymerase II promoter | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| transcription elongation by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription, elongation | 1 |
| regulation of transcription elongation by RNA polymerase II | 1 |
| transcription preinitiation complex assembly | 1 |
| regulation of transcription initiation by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription initiation | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| core mediator complex | 1 |
| nuclear protein-containing complex | 1 |
| RNA polymerase II transcription regulator complex | 1 |
Protein interactions and networks
STRING
902 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MED29 | MED27 | Q6P2C8 | 994 |
| MED29 | MED18 | Q9BUE0 | 979 |
| MED29 | MED20 | Q9H944 | 977 |
| MED29 | MED15 | Q96RN5 | 952 |
| MED29 | MED16 | Q9Y2X0 | 932 |
| MED29 | MED24 | O75448 | 875 |
| MED29 | MED14 | O60244 | 850 |
| MED29 | MED17 | Q9NVC6 | 841 |
| MED29 | MED7 | O43513 | 832 |
| MED29 | MED21 | Q13503 | 828 |
| MED29 | MED11 | Q9P086 | 819 |
| MED29 | MED6 | O75586 | 818 |
| MED29 | MED22 | Q15528 | 790 |
| MED29 | MED8 | Q96G25 | 785 |
| MED29 | MED30 | Q96HR3 | 772 |
IntAct
166 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED10 | MED19 | psi-mi:“MI:0914”(association) | 0.910 |
| MED10 | MED19 | psi-mi:“MI:0915”(physical association) | 0.910 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| CDK8 | MED14 | psi-mi:“MI:0914”(association) | 0.900 |
| MED29 | MED19 | psi-mi:“MI:0914”(association) | 0.890 |
| MED29 | MED18 | psi-mi:“MI:0914”(association) | 0.890 |
| MED29 | MED18 | psi-mi:“MI:0915”(physical association) | 0.890 |
| MED19 | MED29 | psi-mi:“MI:0915”(physical association) | 0.890 |
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| MED10 | MED6 | psi-mi:“MI:0914”(association) | 0.870 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| CDK8 | MED19 | psi-mi:“MI:0914”(association) | 0.850 |
| MED20 | MED29 | psi-mi:“MI:0915”(physical association) | 0.850 |
| MED29 | MED20 | psi-mi:“MI:0915”(physical association) | 0.850 |
BioGRID (341): MED29 (Affinity Capture-RNA), MED29 (Affinity Capture-RNA), MED29 (Affinity Capture-MS), MED29 (Affinity Capture-MS), MED29 (Affinity Capture-MS), MED29 (Affinity Capture-MS), MED29 (Affinity Capture-MS), MED29 (Affinity Capture-MS), MED29 (Affinity Capture-MS), MED1 (Co-fractionation), MED10 (Co-fractionation), MED11 (Co-fractionation), MED14 (Co-fractionation), MED15 (Co-fractionation), MED16 (Co-fractionation)
ESM2 similar proteins: A1A4Q8, A2RSY1, A4IHD9, A4IIZ9, A8E5U3, B5DF93, F4HPA7, O57595, P68943, Q03297, Q08BU1, Q08D01, Q0IHI6, Q24767, Q2QCI8, Q2TBN4, Q2YDF2, Q3TC46, Q499B3, Q4VCS5, Q5HZZ6, Q5PPY2, Q5R8Q4, Q5RBZ4, Q5RKN3, Q60520, Q62415, Q66KX4, Q6DD30, Q6GP15, Q6NYT1, Q6PC45, Q6PEH8, Q71SY5, Q7KW14, Q86TB9, Q8BG30, Q8JHI6, Q8VCB2, Q8VHG2
Diamond homologs: A1A4Q8, Q08D01, Q16TJ7, Q5ISW3, Q5ISW5, Q5RBZ4, Q66KX4, Q7KBL8, Q7PUD7, Q8JHI6, Q9DB91, Q9NX70
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MED29 | “form complex” | “Core mediator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Respiratory Syncytial Virus Infection Pathway | 25 | 78.1× | 8e-41 |
| RSV-host interactions | 25 | 62.1× | 3e-38 |
| Adipogenesis | 25 | 62.1× | 3e-38 |
| Regulation of lipid metabolism by PPARalpha | 25 | 56.0× | 5e-37 |
| Transcriptional regulation of white adipocyte differentiation | 25 | 51.5× | 5e-36 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 15 | 51.3× | 5e-21 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 15 | 46.9× | 2e-20 |
| PPARA activates gene expression | 25 | 37.5× | 3e-32 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 21 | 84.3× | 5e-34 |
| positive regulation of transcription initiation by RNA polymerase II | 22 | 79.7× | 8e-35 |
| RNA polymerase II preinitiation complex assembly | 21 | 76.1× | 5e-33 |
| transcription initiation at RNA polymerase II promoter | 8 | 40.0× | 2e-09 |
| somatic stem cell population maintenance | 11 | 36.4× | 9e-13 |
| transcription by RNA polymerase II | 9 | 8.5× | 7e-05 |
| protein ubiquitination | 12 | 6.6× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3778699 | NM_017592.4(MED29):c.353T>C (p.Leu118Pro) | Pathogenic |
SpliceAI
612 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:39391628:A:T | donor_gain | 1.0000 |
| 19:39392523:G:GG | donor_gain | 1.0000 |
| 19:39393550:TAG:T | acceptor_loss | 1.0000 |
| 19:39393551:A:AG | acceptor_gain | 1.0000 |
| 19:39393552:G:GC | acceptor_gain | 1.0000 |
| 19:39393552:GA:G | acceptor_gain | 1.0000 |
| 19:39393552:GAA:G | acceptor_gain | 1.0000 |
| 19:39393552:GAAA:G | acceptor_gain | 1.0000 |
| 19:39393633:GCCTG:G | donor_gain | 1.0000 |
| 19:39393636:TGGTA:T | donor_loss | 1.0000 |
| 19:39393639:T:G | donor_loss | 1.0000 |
| 19:39391634:TACAG:T | donor_loss | 0.9900 |
| 19:39391635:ACAG:A | donor_loss | 0.9900 |
| 19:39391636:CAG:C | donor_loss | 0.9900 |
| 19:39391637:AG:A | donor_loss | 0.9900 |
| 19:39391638:GG:G | donor_loss | 0.9900 |
| 19:39391640:T:G | donor_loss | 0.9900 |
| 19:39391646:GCCT:G | donor_gain | 0.9900 |
| 19:39391678:T:TA | donor_gain | 0.9900 |
| 19:39391679:A:AA | donor_gain | 0.9900 |
| 19:39393638:G:GG | donor_gain | 0.9900 |
| 19:39397455:A:AG | acceptor_gain | 0.9900 |
| 19:39397456:G:GA | acceptor_gain | 0.9900 |
| 19:39397456:GC:G | acceptor_gain | 0.9900 |
| 19:39397456:GCGC:G | acceptor_gain | 0.9900 |
| 19:39393544:T:TA | acceptor_gain | 0.9800 |
| 19:39397657:C:T | donor_gain | 0.9800 |
| 19:39392518:GGACA:G | donor_gain | 0.9700 |
| 19:39392519:GACAG:G | donor_gain | 0.9700 |
| 19:39393548:T:TA | acceptor_gain | 0.9700 |
AlphaMissense
1292 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:39391610:T:C | L63P | 1.000 |
| 19:39391622:T:C | L67P | 1.000 |
| 19:39391634:T:C | L71P | 1.000 |
| 19:39392479:G:C | A78P | 1.000 |
| 19:39392480:C:A | A78E | 1.000 |
| 19:39393594:T:C | L106P | 1.000 |
| 19:39393597:A:T | E107V | 1.000 |
| 19:39393598:A:C | E107D | 1.000 |
| 19:39393598:A:T | E107D | 1.000 |
| 19:39393603:T:C | F109S | 1.000 |
| 19:39393615:G:A | C113Y | 1.000 |
| 19:39393616:T:G | C113W | 1.000 |
| 19:39393618:A:C | D114A | 1.000 |
| 19:39393618:A:G | D114G | 1.000 |
| 19:39393618:A:T | D114V | 1.000 |
| 19:39393621:A:C | Q115P | 1.000 |
| 19:39393624:T:C | L116P | 1.000 |
| 19:39393630:T:C | L118P | 1.000 |
| 19:39393636:T:C | L120P | 1.000 |
| 19:39397461:T:C | L122P | 1.000 |
| 19:39397463:G:C | A123P | 1.000 |
| 19:39397566:A:G | Y157C | 1.000 |
| 19:39397574:T:G | Y160D | 1.000 |
| 19:39397575:A:G | Y160C | 1.000 |
| 19:39397608:C:A | A171D | 1.000 |
| 19:39397629:T:C | L178P | 1.000 |
| 19:39391605:G:C | K61N | 0.999 |
| 19:39391605:G:T | K61N | 0.999 |
| 19:39391622:T:G | L67R | 0.999 |
| 19:39392468:T:G | L74W | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000051764 (19:39395106 A>G), RS1000124844 (19:39395301 A>C), RS1000218792 (19:39398768 A>G), RS1000670012 (19:39393855 C>T), RS1000824330 (19:39399993 A>G), RS1001170581 (19:39399408 C>A), RS1001171467 (19:39399742 C>T), RS1001215456 (19:39392816 A>G), RS1001838590 (19:39391398 A>C,G,T), RS1002062494 (19:39398405 G>A), RS1002137511 (19:39398687 C>T), RS1002164306 (19:39394550 C>T), RS1002312358 (19:39391704 A>G,T), RS1002325639 (19:39400371 G>GT), RS1003016887 (19:39390050 T>C)
Disease associations
OMIM: gene MIM:612914 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| 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 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| diallyl trisulfide | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Vincristine | decreases expression | 1 |
| Zinc | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
Clinical trials (associated diseases)
11 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 |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.