MED10
gene geneOn this page
Also known as TRG20L6MGC5309NUT2
Summary
MED10 (mediator complex subunit 10, HGNC:28760) is a protein-coding gene on chromosome 5p15.31, encoding Mediator of RNA polymerase II transcription subunit 10 (Q9BTT4). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. It is a selective cancer dependency (DepMap: 46.4% of cell lines).
MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).
Source: NCBI Gene 84246 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 26 total
- Cancer dependency (DepMap): dependent in 46.4% of screened cell lines
- MANE Select transcript:
NM_032286
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28760 |
| Approved symbol | MED10 |
| Name | mediator complex subunit 10 |
| Location | 5p15.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRG20, L6, MGC5309, NUT2 |
| Ensembl gene | ENSG00000133398 |
| Ensembl biotype | protein_coding |
| OMIM | 612382 |
| Entrez | 84246 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 2 retained_intron
ENST00000255764, ENST00000503112, ENST00000504058, ENST00000924358
RefSeq mRNA: 1 — MANE Select: NM_032286
NM_032286
CCDS: CCDS34134
Canonical transcript exons
ENST00000255764 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000909238 | 6374324 | 6374426 |
| ENSE00001166330 | 6377166 | 6377249 |
| ENSE00001223115 | 6371874 | 6372601 |
| ENSE00002051051 | 6378362 | 6378547 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 94.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.0005 / max 132.9588, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60855 | 23.0505 | 1817 |
| 60854 | 0.6216 | 301 |
| 60856 | 0.3284 | 155 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 94.61 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.59 | gold quality |
| leukocyte | CL:0000738 | 94.38 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.23 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.18 | gold quality |
| tibial artery | UBERON:0007610 | 94.08 | gold quality |
| popliteal artery | UBERON:0002250 | 94.07 | gold quality |
| oocyte | CL:0000023 | 94.06 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.70 | gold quality |
| aorta | UBERON:0000947 | 93.69 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.55 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.53 | gold quality |
| lower esophagus | UBERON:0013473 | 93.51 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.35 | gold quality |
| ascending aorta | UBERON:0001496 | 93.34 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.32 | gold quality |
| hypothalamus | UBERON:0001898 | 93.29 | gold quality |
| left coronary artery | UBERON:0001626 | 93.28 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.21 | gold quality |
| tibial nerve | UBERON:0001323 | 93.00 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.00 | gold quality |
| lymph node | UBERON:0000029 | 92.98 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.91 | gold quality |
| right coronary artery | UBERON:0001625 | 92.89 | gold quality |
| body of uterus | UBERON:0009853 | 92.83 | gold quality |
| omental fat pad | UBERON:0010414 | 92.67 | gold quality |
| peritoneum | UBERON:0002358 | 92.65 | gold quality |
| spinal cord | UBERON:0002240 | 92.58 | gold quality |
| coronary artery | UBERON:0001621 | 92.48 | gold quality |
| secondary oocyte | CL:0000655 | 92.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting MED10, 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-449B-3P | 99.20 | 67.24 | 1047 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-491-3P | 98.88 | 68.86 | 1224 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-1-5P | 98.70 | 68.66 | 1017 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-4773 | 98.35 | 67.30 | 1710 |
| HSA-MIR-6831-5P | 98.26 | 67.20 | 990 |
| HSA-MIR-1255B-2-3P | 97.80 | 67.04 | 880 |
| HSA-MIR-3927-3P | 97.68 | 66.76 | 892 |
| HSA-MIR-5194 | 96.77 | 63.91 | 1021 |
| HSA-MIR-5591-3P | 96.23 | 67.03 | 489 |
| HSA-MIR-1914-3P | 95.07 | 63.37 | 762 |
| HSA-MIR-7975 | 95.04 | 66.76 | 516 |
| HSA-MIR-4746-5P | 94.32 | 69.49 | 70 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 46.4% of screened cell lines.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | med10 | ENSDARG00000070623 |
| mus_musculus | Med10 | ENSMUSG00000021598 |
| rattus_norvegicus | Med10 | ENSRNOG00000017150 |
Protein
Protein identifiers
Mediator of RNA polymerase II transcription subunit 10 — Q9BTT4 (reviewed: Q9BTT4)
Alternative names: Mediator complex subunit 10, Transformation-related gene 17 protein, Transformation-related gene 20 protein
All UniProt accessions (1): Q9BTT4
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.
Subcellular location. Nucleus.
Similarity. Belongs to the Mediator complex subunit 10 family.
RefSeq proteins (1): NP_115662* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019145 | Mediator_Med10 | Family |
Pfam: PF09748
UniProt features (6 total): helix 5, chain 1
Structure
Experimental structures (PDB)
11 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 |
| 7NVR | ELECTRON MICROSCOPY | 4.5 |
| 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-Q9BTT4-F1 | 92.87 | 0.87 |
Function
Pathways and Gene Ontology
Reactome pathways
20 pathways
| ID | Pathway |
|---|---|
| R-HSA-1989781 | PPARA activates gene expression |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-381340 | Transcriptional regulation of white adipocyte differentiation |
| R-HSA-9833110 | RSV-host interactions |
| R-HSA-9841922 | MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1430728 | Metabolism |
| R-HSA-1643685 | Disease |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-400206 | Regulation of lipid metabolism by PPARalpha |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-5663205 | Infectious disease |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9818564 | Epigenetic regulation of gene expression by MLL3 and MLL4 complexes |
| R-HSA-9820952 | Respiratory Syncytial Virus Infection Pathway |
| R-HSA-9824446 | Viral Infection Pathways |
| R-HSA-9843745 | Adipogenesis |
| R-HSA-9851695 | Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 135 (showing top):
REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, WEI_MYCN_TARGETS_WITH_E_BOX, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_TRANSFERASE_COMPLEX
GO Biological Process (7): protein ubiquitination (GO:0016567), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), somatic stem cell population maintenance (GO:0035019), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (3): transcription coregulator activity (GO:0003712), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515)
GO Cellular Component (5): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), nucleoplasm (GO:0005654), mediator complex (GO:0016592), core mediator complex (GO:0070847)
Reactome top-level categories
Rollup of top-15 pathways:
| Category | Pathways |
|---|---|
| Gene expression (Transcription) | 2 |
| Regulation of lipid metabolism by PPARalpha | 1 |
| RNA Polymerase II Transcription | 1 |
| Adipogenesis | 1 |
| Respiratory Syncytial Virus Infection Pathway | 1 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 1 |
| Metabolism of lipids | 1 |
| Metabolism | 1 |
| Disease | 1 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Viral Infection Pathways | 1 |
| Infectious disease | 1 |
| Developmental Biology | 1 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 1 |
| Epigenetic regulation of gene expression | 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 |
| transcription by RNA polymerase II | 2 |
| protein modification by small protein conjugation | 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 |
| stem cell population maintenance | 1 |
| transcription preinitiation complex assembly | 1 |
| regulation of transcription initiation by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription initiation | 1 |
| regulation of DNA-templated transcription | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 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
1412 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MED10 | MED7 | O43513 | 996 |
| MED10 | MED19 | A0JLT2 | 987 |
| MED10 | MED31 | Q9Y3C7 | 977 |
| MED10 | MED9 | Q9NWA0 | 977 |
| MED10 | MED17 | Q9NVC6 | 976 |
| MED10 | MED11 | Q9P086 | 974 |
| MED10 | MED14 | O60244 | 972 |
| MED10 | MED22 | Q15528 | 971 |
| MED10 | MED6 | O75586 | 964 |
| MED10 | MED18 | Q9BUE0 | 959 |
| MED10 | MED21 | Q13503 | 957 |
| MED10 | MED8 | Q96G25 | 949 |
| MED10 | MED15 | Q96RN5 | 911 |
| MED10 | MED30 | Q96HR3 | 908 |
| MED10 | MED20 | Q9H944 | 904 |
IntAct
133 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED10 | MED7 | psi-mi:“MI:0915”(physical association) | 0.920 |
| MED10 | MED19 | psi-mi:“MI:0914”(association) | 0.910 |
| MED10 | MED19 | psi-mi:“MI:0915”(physical association) | 0.910 |
| MED10 | MED8 | psi-mi:“MI:0914”(association) | 0.910 |
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| MED29 | MED19 | psi-mi:“MI:0914”(association) | 0.890 |
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| MED10 | MED24 | psi-mi:“MI:0914”(association) | 0.870 |
| 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 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED18 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
BioGRID (374): MED10 (Affinity Capture-MS), MED10 (Affinity Capture-MS), MED10 (Affinity Capture-MS), MED10 (Affinity Capture-MS), MED10 (Affinity Capture-MS), MED10 (Affinity Capture-MS), MED10 (Co-fractionation), MED10 (Co-fractionation), MED10 (Co-fractionation), MED10 (Co-fractionation), MED10 (Co-fractionation), MED10 (Co-fractionation), MED10 (Co-fractionation), MED10 (Co-fractionation), MED10 (Co-fractionation)
ESM2 similar proteins: A1ZBT5, O42958, P0C5E6, P38304, Q06213, Q08BU1, Q0U8U9, Q0VIA1, Q16RR7, Q16TJ7, Q177A7, Q17NH9, Q17P98, Q23679, Q294G7, Q3ZCF2, Q4R6W4, Q53HL2, Q54XB0, Q561X3, Q5HZZ6, Q5ISW3, Q5ISW5, Q5M8Y7, Q5R6P5, Q5RBS5, Q5XG48, Q61BU1, Q626S1, Q6CM22, Q6CVN3, Q6DD30, Q6DJ25, Q6FQ75, Q6NYT1, Q758L3, Q758M1, Q7KBL8, Q7PTL0, Q7Q6D6
Diamond homologs: A1CR70, A1D434, A3LPQ8, F4HPA7, P87310, Q0CTF3, Q0U8U9, Q0VIA1, Q16G71, Q1E0Q7, Q2H8S0, Q3ZCF2, Q4R6W4, Q4WJH6, Q5A3K2, Q5B5I6, Q5R6P5, Q6BWK1, Q6C5P0, Q6CVN3, Q6DJ25, Q6IP67, Q7Q5R5, Q7RXK7, Q9BTT4, Q9CXU0, Q9GYU7, Q54GE5, P45966, Q61Z20, Q758M1, Q9FHZ2, Q4PDA7, Q6FQ75, Q06213
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MED10 | “form complex” | “Core mediator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 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 | 27 | 110.8× | 6e-50 |
| RSV-host interactions | 27 | 88.0× | 6e-47 |
| Adipogenesis | 27 | 88.0× | 6e-47 |
| Regulation of lipid metabolism by PPARalpha | 27 | 79.3× | 1e-45 |
| Transcriptional regulation of white adipocyte differentiation | 27 | 73.0× | 2e-44 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 16 | 71.8× | 3e-25 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 16 | 65.6× | 1e-24 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 17 | 54.7× | 9e-25 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 23 | 125.8× | 1e-42 |
| positive regulation of transcription initiation by RNA polymerase II | 25 | 123.5× | 4e-46 |
| RNA polymerase II preinitiation complex assembly | 23 | 113.7× | 1e-41 |
| transcription initiation at RNA polymerase II promoter | 7 | 47.7× | 6e-09 |
| somatic stem cell population maintenance | 10 | 45.1× | 9e-13 |
| transcription by RNA polymerase II | 7 | 9.0× | 3e-04 |
| protein ubiquitination | 11 | 8.3× | 3e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
761 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:6374318:TCTTA:T | donor_loss | 1.0000 |
| 5:6374319:CTTAC:C | donor_loss | 1.0000 |
| 5:6374320:TTA:T | donor_loss | 1.0000 |
| 5:6374321:TAC:T | donor_loss | 1.0000 |
| 5:6374322:ACCT:A | donor_loss | 1.0000 |
| 5:6374422:TATAT:T | acceptor_gain | 1.0000 |
| 5:6374423:ATAT:A | acceptor_gain | 1.0000 |
| 5:6374424:TAT:T | acceptor_gain | 1.0000 |
| 5:6374425:AT:A | acceptor_gain | 1.0000 |
| 5:6374427:C:CC | acceptor_gain | 1.0000 |
| 5:6377164:A:AC | donor_gain | 1.0000 |
| 5:6377165:C:CA | donor_gain | 1.0000 |
| 5:6377165:CT:C | donor_gain | 1.0000 |
| 5:6378357:CTCA:C | donor_loss | 1.0000 |
| 5:6378358:TCACA:T | donor_loss | 1.0000 |
| 5:6378359:CAC:C | donor_loss | 1.0000 |
| 5:6378360:A:AC | donor_gain | 1.0000 |
| 5:6378360:ACAG:A | donor_gain | 1.0000 |
| 5:6378361:C:CA | donor_gain | 1.0000 |
| 5:6378361:CA:C | donor_gain | 1.0000 |
| 5:6378361:CAG:C | donor_gain | 1.0000 |
| 5:6378361:CAGC:C | donor_gain | 1.0000 |
| 5:6378361:CAGCT:C | donor_gain | 1.0000 |
| 5:6372599:TTT:T | acceptor_gain | 0.9900 |
| 5:6372602:C:CC | acceptor_gain | 0.9900 |
| 5:6374317:GTCTT:G | donor_loss | 0.9900 |
| 5:6374322:A:AC | donor_gain | 0.9900 |
| 5:6374323:C:CC | donor_gain | 0.9900 |
| 5:6377157:GTTAC:G | donor_loss | 0.9900 |
| 5:6377158:TTAC:T | donor_loss | 0.9900 |
AlphaMissense
906 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:6374403:G:T | P77H | 1.000 |
| 5:6374404:G:A | P77S | 1.000 |
| 5:6378449:A:G | L12P | 1.000 |
| 5:6372573:A:G | L113P | 0.999 |
| 5:6374343:C:T | G97D | 0.999 |
| 5:6374344:C:G | G97R | 0.999 |
| 5:6374357:A:C | N92K | 0.999 |
| 5:6374357:A:T | N92K | 0.999 |
| 5:6374370:G:T | A88D | 0.999 |
| 5:6374371:C:G | A88P | 0.999 |
| 5:6374379:A:G | L85P | 0.999 |
| 5:6374387:T:A | K82N | 0.999 |
| 5:6374387:T:G | K82N | 0.999 |
| 5:6374395:A:C | Y80D | 0.999 |
| 5:6374403:G:C | P77R | 0.999 |
| 5:6374404:G:T | P77T | 0.999 |
| 5:6374405:A:C | N76K | 0.999 |
| 5:6374405:A:T | N76K | 0.999 |
| 5:6374418:T:A | D72V | 0.999 |
| 5:6374421:A:T | I71K | 0.999 |
| 5:6377172:A:T | V67D | 0.999 |
| 5:6377181:G:C | P64R | 0.999 |
| 5:6377181:G:T | P64Q | 0.999 |
| 5:6377182:G:T | P64T | 0.999 |
| 5:6377184:A:T | V63E | 0.999 |
| 5:6378362:A:G | L41P | 0.999 |
| 5:6378374:A:G | L37P | 0.999 |
| 5:6378397:G:C | F29L | 0.999 |
| 5:6378397:G:T | F29L | 0.999 |
| 5:6378399:A:G | F29L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000038424 (5:6379736 A>C), RS1000560919 (5:6378458 T>C), RS1001226019 (5:6378263 G>A,T), RS1001276581 (5:6378027 G>A), RS1002225424 (5:6375024 G>A), RS1002485189 (5:6378058 G>A,T), RS1002694203 (5:6372299 C>A,G), RS1002789390 (5:6371756 G>A,C), RS1003046721 (5:6372134 A>G), RS1003437781 (5:6376523 T>C), RS1003565968 (5:6376986 T>G), RS1003618014 (5:6376746 C>A,T), RS1003919727 (5:6371530 A>G), RS1004064045 (5:6373626 G>A), RS1004112841 (5:6373510 G>A,C)
Disease associations
OMIM: gene MIM:612382 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects expression | 3 |
| Carbamazepine | affects expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Diclofenac | affects expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Lead | affects splicing | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.