MED21
gene geneOn this page
Also known as SRB7
Summary
MED21 (mediator complex subunit 21, HGNC:11473) is a protein-coding gene on chromosome 12p11.23, encoding Mediator of RNA polymerase II transcription subunit 21 (Q13503). 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: 83.4% of cell lines).
This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9412 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 14 total
- Cancer dependency (DepMap): dependent in 83.4% of screened cell lines
- MANE Select transcript:
NM_004264
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11473 |
| Approved symbol | MED21 |
| Name | mediator complex subunit 21 |
| Location | 12p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SRB7 |
| Ensembl gene | ENSG00000152944 |
| Ensembl biotype | protein_coding |
| OMIM | 603800 |
| Entrez | 9412 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000282892, ENST00000536503, ENST00000536711, ENST00000538186, ENST00000544998, ENST00000546323, ENST00000621885, ENST00000924664, ENST00000924665, ENST00000943693
RefSeq mRNA: 2 — MANE Select: NM_004264
NM_001271811, NM_004264
CCDS: CCDS8711
Canonical transcript exons
ENST00000282892 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001133102 | 27028285 | 27030673 |
| ENSE00003480494 | 27027347 | 27027447 |
| ENSE00003483219 | 27026420 | 27026534 |
| ENSE00003687374 | 27022558 | 27022621 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 97.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.8736 / max 383.8826, expressed in 1806 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 124827 | 32.8736 | 1806 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.38 | gold quality |
| oocyte | CL:0000023 | 96.35 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.68 | gold quality |
| cortical plate | UBERON:0005343 | 93.36 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.73 | gold quality |
| tendon | UBERON:0000043 | 92.59 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.96 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.46 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.18 | gold quality |
| popliteal artery | UBERON:0002250 | 90.79 | gold quality |
| tibial artery | UBERON:0007610 | 90.77 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.54 | gold quality |
| biceps brachii | UBERON:0001507 | 90.42 | gold quality |
| aorta | UBERON:0000947 | 90.36 | gold quality |
| muscle of leg | UBERON:0001383 | 90.35 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.29 | gold quality |
| renal glomerulus | UBERON:0000074 | 90.24 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.22 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.13 | gold quality |
| right testis | UBERON:0004534 | 90.08 | gold quality |
| ventricular zone | UBERON:0003053 | 90.06 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.98 | gold quality |
| rectum | UBERON:0001052 | 89.94 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.94 | gold quality |
| testis | UBERON:0000473 | 89.90 | gold quality |
| ascending aorta | UBERON:0001496 | 89.86 | gold quality |
| right coronary artery | UBERON:0001625 | 89.86 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 3.45 |
| E-MTAB-4850 | no | 183.30 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TBP
miRNA regulators (miRDB)
91 targeting MED21, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 83.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Co-expressed yeast MED21 and MED7 in E. coli to determine structure. (PMID:15710619)
- Blocking MED1/MED21 expression caused hyperproliferation of keratinocytes (PMID:20520624)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | med21 | ENSDARG00000026839 |
| mus_musculus | Med21 | ENSMUSG00000030291 |
| rattus_norvegicus | Med21 | ENSRNOG00000001820 |
| drosophila_melanogaster | MED21 | FBGN0040020 |
| caenorhabditis_elegans | WBGENE00007704 |
Protein
Protein identifiers
Mediator of RNA polymerase II transcription subunit 21 — Q13503 (reviewed: Q13503)
Alternative names: Mediator complex subunit 21, RNA polymerase II holoenzyme component SRB7
All UniProt accessions (4): Q13503, A0A024RAW0, F5GZQ1, F5H872
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. Interacts with PPARG. 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. Interacts with THRA in a ligand-dependent fashion.
Subcellular location. Nucleus.
Similarity. Belongs to the Mediator complex subunit 21 family.
RefSeq proteins (2): NP_001258740, NP_004255* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021384 | Mediator_Med21 | Family |
| IPR037212 | Med7/Med21-like | Homologous_superfamily |
Pfam: PF11221
UniProt features (5 total): helix 3, chain 1, sequence conflict 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-Q13503-F1 | 85.25 | 0.60 |
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: 208 (showing top):
REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, PUJANA_CHEK2_PCC_NETWORK, chr12p11, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION
GO Biological Process (8): blastocyst development (GO:0001824), regulation of transcription by RNA polymerase II (GO:0006357), protein ubiquitination (GO:0016567), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), somatic stem cell population maintenance (GO:0035019), positive regulation of transcription by RNA polymerase II (GO:0045944), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)
GO Molecular Function (5): transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), DNA-directed RNA polymerase activity (GO:0003899), 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-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 |
|---|---|
| transcription by RNA polymerase II | 2 |
| positive regulation of transcription by RNA polymerase II | 2 |
| positive regulation of DNA-templated transcription | 2 |
| transcription initiation at RNA polymerase II promoter | 2 |
| in utero embryonic development | 1 |
| anatomical structure development | 1 |
| regulation of DNA-templated transcription | 1 |
| 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 |
| regulation of transcription 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 |
| transcription coregulator activity | 1 |
| RNA biosynthetic process | 1 |
| 5’-3’ RNA polymerase 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
1868 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MED21 | MED7 | O43513 | 989 |
| MED21 | MED14 | O60244 | 988 |
| MED21 | MED6 | O75586 | 981 |
| MED21 | MED10 | Q9BTT4 | 957 |
| MED21 | MED17 | Q9NVC6 | 946 |
| MED21 | MED20 | Q9H944 | 917 |
| MED21 | CCNC | P24863 | 893 |
| MED21 | MED31 | Q9Y3C7 | 875 |
| MED21 | MED18 | Q9BUE0 | 873 |
| MED21 | MED8 | Q96G25 | 834 |
| MED21 | CDK8 | P49336 | 828 |
| MED21 | MED29 | Q9NX70 | 828 |
| MED21 | MED11 | Q9P086 | 823 |
| MED21 | MED22 | Q15528 | 811 |
| MED21 | MED9 | Q9NWA0 | 803 |
IntAct
135 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:2364”(proximity) | 0.900 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| MED21 | MED9 | psi-mi:“MI:0915”(physical association) | 0.900 |
| MED29 | MED19 | psi-mi:“MI:0914”(association) | 0.890 |
| MED21 | MED4 | psi-mi:“MI:0915”(physical association) | 0.890 |
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| MED26 | MED7 | psi-mi:“MI:0914”(association) | 0.860 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| CDK8 | MED19 | psi-mi:“MI:0914”(association) | 0.850 |
| MED1 | MED21 | psi-mi:“MI:0915”(physical association) | 0.850 |
| MED21 | MED7 | psi-mi:“MI:0915”(physical association) | 0.850 |
| MED20 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED7 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED11 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED18 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| CDK19 | MED7 | psi-mi:“MI:0914”(association) | 0.800 |
BioGRID (378): MED21 (Two-hybrid), MED21 (Two-hybrid), BLOC1S6 (Two-hybrid), ZNF655 (Two-hybrid), SSC5D (Two-hybrid), MED21 (Affinity Capture-MS), MED21 (Affinity Capture-MS), MED21 (Affinity Capture-MS), MED21 (Proximity Label-MS), MED21 (Proximity Label-MS), MED21 (Affinity Capture-MS), MED21 (Affinity Capture-MS), MED21 (Affinity Capture-MS), MED21 (Affinity Capture-MS), MED21 (Affinity Capture-MS)
ESM2 similar proteins: A0A5G2QD80, A8E5U3, A9ULY7, O75934, Q13503, Q13561, Q16891, Q1HQF2, Q28DG8, Q28HX4, Q28Y46, Q2TBU8, Q3ZCF0, Q4R6N3, Q4V909, Q5EA95, Q5FW42, Q5PPY2, Q5R561, Q5RAX7, Q5RE46, Q5REX6, Q5RKQ0, Q5U1Z0, Q5ZKJ4, Q66J30, Q6AYH5, Q6DF11, Q6DFL5, Q6IRB3, Q6IVW0, Q6NY52, Q6PBE2, Q6TA25, Q7K2D2, Q7PZ25, Q7T3H1, Q7ZXA8, Q8BMG7, Q8BXG3
Diamond homologs: C0LU16, Q13503, Q2TBU8, Q4R6N3, Q5RE46, Q9CQ39, Q16RX1, Q61BU1, Q6BER6, Q7PTL0, Q7ZTI5, Q9W5P1, Q6C5U8, Q7S8C2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MED21 | “form complex” | “Core mediator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 65 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 | 20 | 82.0× | 2e-32 |
| RSV-host interactions | 20 | 65.2× | 1e-30 |
| Adipogenesis | 20 | 65.2× | 1e-30 |
| Regulation of lipid metabolism by PPARalpha | 20 | 58.7× | 1e-29 |
| Transcriptional regulation of white adipocyte differentiation | 20 | 54.1× | 6e-29 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 12 | 53.9× | 7e-17 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 12 | 49.2× | 2e-16 |
| MicroRNA (miRNA) biogenesis | 5 | 47.6× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 16 | 83.0× | 3e-25 |
| positive regulation of transcription initiation by RNA polymerase II | 17 | 79.7× | 3e-26 |
| RNA polymerase II preinitiation complex assembly | 16 | 75.0× | 1e-24 |
| transcription initiation at RNA polymerase II promoter | 7 | 45.2× | 2e-08 |
| somatic stem cell population maintenance | 6 | 25.6× | 1e-05 |
| transcription by RNA polymerase II | 7 | 8.5× | 1e-03 |
| protein ubiquitination | 8 | 5.7× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
614 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:27026411:T:A | acceptor_gain | 1.0000 |
| 12:27026417:A:AG | acceptor_gain | 1.0000 |
| 12:27026418:A:G | acceptor_gain | 1.0000 |
| 12:27026530:AGAAG:A | donor_loss | 1.0000 |
| 12:27026531:GAAG:G | donor_gain | 1.0000 |
| 12:27026532:AAGG:A | donor_loss | 1.0000 |
| 12:27026533:AG:A | donor_loss | 1.0000 |
| 12:27026534:GGTAA:G | donor_loss | 1.0000 |
| 12:27026535:GT:G | donor_loss | 1.0000 |
| 12:27026536:T:A | donor_loss | 1.0000 |
| 12:27027345:A:AG | acceptor_gain | 1.0000 |
| 12:27027346:G:GG | acceptor_gain | 1.0000 |
| 12:27027346:GA:G | acceptor_gain | 1.0000 |
| 12:27027346:GAGT:G | acceptor_gain | 1.0000 |
| 12:27027346:GAGTA:G | acceptor_gain | 1.0000 |
| 12:27027446:AGG:A | donor_loss | 1.0000 |
| 12:27027447:GGT:G | donor_loss | 1.0000 |
| 12:27027448:G:GA | donor_loss | 1.0000 |
| 12:27027448:G:GG | donor_gain | 1.0000 |
| 12:27027449:T:G | donor_loss | 1.0000 |
| 12:27028281:A:AG | acceptor_gain | 1.0000 |
| 12:27028281:AAAG:A | acceptor_gain | 1.0000 |
| 12:27028282:A:G | acceptor_gain | 1.0000 |
| 12:27028283:A:AG | acceptor_gain | 1.0000 |
| 12:27028283:A:T | acceptor_loss | 1.0000 |
| 12:27028284:G:GG | acceptor_gain | 1.0000 |
| 12:27022620:CGG:C | donor_loss | 0.9900 |
| 12:27022622:G:GC | donor_loss | 0.9900 |
| 12:27022622:G:GG | donor_gain | 0.9900 |
| 12:27022623:T:G | donor_loss | 0.9900 |
AlphaMissense
937 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:27022586:G:C | D3H | 1.000 |
| 12:27022602:T:A | L8H | 1.000 |
| 12:27022602:T:C | L8P | 1.000 |
| 12:27022610:G:C | A11P | 1.000 |
| 12:27026421:T:C | L15P | 1.000 |
| 12:27026440:T:A | N21K | 1.000 |
| 12:27026440:T:G | N21K | 1.000 |
| 12:27026441:G:C | A22P | 1.000 |
| 12:27026442:C:A | A22D | 1.000 |
| 12:27026447:G:A | G24R | 1.000 |
| 12:27026447:G:C | G24R | 1.000 |
| 12:27026448:G:A | G24E | 1.000 |
| 12:27027361:T:A | F58I | 1.000 |
| 12:27027361:T:C | F58L | 1.000 |
| 12:27027363:T:A | F58L | 1.000 |
| 12:27027363:T:G | F58L | 1.000 |
| 12:27027365:C:A | A59E | 1.000 |
| 12:27027371:T:C | L61P | 1.000 |
| 12:27027374:T:A | I62N | 1.000 |
| 12:27027385:G:C | A66P | 1.000 |
| 12:27027416:T:C | L76S | 1.000 |
| 12:27028337:T:C | L104P | 1.000 |
| 12:27028370:T:C | L115P | 1.000 |
| 12:27028387:G:C | A121P | 1.000 |
| 12:27028391:T:C | L122P | 1.000 |
| 12:27022586:G:A | D3N | 0.999 |
| 12:27022587:A:T | D3V | 0.999 |
| 12:27022589:C:T | R4W | 0.999 |
| 12:27022593:T:A | L5H | 0.999 |
| 12:27022593:T:C | L5P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000005200 (12:27023303 T>A), RS1000065298 (12:27024679 G>A,C), RS1000108541 (12:27030141 G>A,T), RS1000244688 (12:27036140 G>A), RS1000320793 (12:27031260 T>C), RS1000369261 (12:27036068 A>G), RS1000377855 (12:27031009 G>C), RS1000595181 (12:27036392 T>C), RS1000654685 (12:27024321 A>T), RS1001005326 (12:27024621 AG>A), RS1001284610 (12:27029480 A>G), RS1001355058 (12:27023469 G>A,T), RS1001649555 (12:27034722 T>C), RS1001771492 (12:27035798 A>C,G), RS1001939264 (12:27030750 A>G)
Disease associations
OMIM: gene MIM:603800 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005759_6 | Dimensional psychopathology (Social) | 4.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009100 | social domain measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment, affects expression, increases abundance | 2 |
| Tretinoin | decreases expression | 2 |
| Particulate Matter | increases abundance, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| dicrotophos | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| tamibarotene | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Antimycin A | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Cisplatin | affects response to substance | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Oils, Volatile | affects cotreatment, affects expression, increases abundance | 1 |
| Piroxicam | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases 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.