MED11
gene geneOn this page
Also known as HSPC296MGC88387
Summary
MED11 (mediator complex subunit 11, HGNC:32687) is a protein-coding gene on chromosome 17p13.2, encoding Mediator of RNA polymerase II transcription subunit 11 (Q9P086). 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 100.0% of cancer cell lines).
MED11 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 400569 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (Strong, GenCC)
- Clinical variants (ClinVar): 23 total — 1 pathogenic
- Phenotypes (HPO): 27
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001001683
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32687 |
| Approved symbol | MED11 |
| Name | mediator complex subunit 11 |
| Location | 17p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC296, MGC88387 |
| Ensembl gene | ENSG00000161920 |
| Ensembl biotype | protein_coding |
| OMIM | 612383 |
| Entrez | 400569 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000293777, ENST00000573708, ENST00000575284, ENST00000674339, ENST00000886211
RefSeq mRNA: 2 — MANE Select: NM_001001683
NM_001001683, NM_001305000
CCDS: CCDS32533, CCDS76920
Canonical transcript exons
ENST00000293777 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001061366 | 4731428 | 4731574 |
| ENSE00001061367 | 4731776 | 4731906 |
| ENSE00001231283 | 4733050 | 4733607 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 93.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2581 / max 162.6621, expressed in 1785 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158927 | 12.2581 | 1785 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 93.15 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.87 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.35 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.18 | gold quality |
| upper arm skin | UBERON:0004263 | 92.07 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.02 | gold quality |
| granulocyte | CL:0000094 | 91.76 | gold quality |
| apex of heart | UBERON:0002098 | 91.66 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.54 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.51 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 91.37 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 90.98 | gold quality |
| kidney epithelium | UBERON:0004819 | 90.96 | gold quality |
| deltoid | UBERON:0001476 | 90.93 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.81 | gold quality |
| adrenal gland | UBERON:0002369 | 90.59 | gold quality |
| ileal mucosa | UBERON:0000331 | 90.57 | gold quality |
| body of stomach | UBERON:0001161 | 90.55 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.41 | gold quality |
| spleen | UBERON:0002106 | 90.37 | gold quality |
| myocardium | UBERON:0002349 | 90.35 | gold quality |
| muscle of leg | UBERON:0001383 | 90.18 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.10 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.08 | gold quality |
| spinal cord | UBERON:0002240 | 90.05 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.99 | gold quality |
| tibialis anterior | UBERON:0001385 | 89.87 | gold quality |
| blood | UBERON:0000178 | 89.84 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.44 | gold quality |
| oocyte | CL:0000023 | 89.35 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting MED11, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-4795-5P | 99.11 | 66.90 | 876 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-92A-1-5P | 98.28 | 64.51 | 631 |
| HSA-MIR-6787-3P | 97.75 | 66.17 | 1233 |
| HSA-MIR-6841-5P | 97.19 | 67.29 | 409 |
| HSA-MIR-3907 | 96.76 | 65.04 | 662 |
| HSA-MIR-5704 | 94.82 | 67.46 | 448 |
| HSA-MIR-4734 | 88.28 | 63.44 | 87 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. (PMID:36001086)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | med11 | ENSDARG00000086416 |
| mus_musculus | Med11 | ENSMUSG00000018923 |
| rattus_norvegicus | Med11 | ENSRNOG00000019384 |
| drosophila_melanogaster | MED11 | FBGN0036811 |
| caenorhabditis_elegans | WBGENE00007015 |
Protein
Protein identifiers
Mediator of RNA polymerase II transcription subunit 11 — Q9P086 (reviewed: Q9P086)
Alternative names: Mediator complex subunit 11
All UniProt accessions (4): A0A6I8PLG6, Q9P086, I3L2Q0, I3L3E8
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 pre-initiation 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.
Disease relevance. Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) [MIM:620327] An autosomal recessive disorder characterized by congenital microcephaly, profound global developmental delay, exaggerated startle response, refractory myoclonic seizures, progressive widespread neurodegeneration, and premature death. The disease may be caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the Mediator complex subunit 11 family.
RefSeq proteins (2): NP_001001683, NP_001291929 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019404 | Mediator_Med11 | Family |
Pfam: PF10280
UniProt features (9 total): helix 3, initiator methionine 1, chain 1, modified residue 1, sequence variant 1, sequence conflict 1, strand 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-Q9P086-F1 | 87.78 | 0.68 |
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: 191 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, TGCGCANK_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, CHANDRAN_METASTASIS_DN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, 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, BENPORATH_OCT4_TARGETS
GO Biological Process (5): protein ubiquitination (GO:0016567), 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), regulation of transcription by RNA polymerase II (GO:0006357)
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-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 |
| 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 |
| 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 |
| transcription by RNA polymerase II | 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
688 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MED11 | MED22 | Q15528 | 999 |
| MED11 | MED18 | Q9BUE0 | 998 |
| MED11 | MED17 | Q9NVC6 | 995 |
| MED11 | MED8 | Q96G25 | 995 |
| MED11 | MED6 | O75586 | 994 |
| MED11 | MED30 | Q96HR3 | 987 |
| MED11 | MED20 | Q9H944 | 984 |
| MED11 | MED10 | Q9BTT4 | 974 |
| MED11 | MED27 | Q6P2C8 | 953 |
| MED11 | MED19 | A0JLT2 | 948 |
| MED11 | MED14 | O60244 | 886 |
| MED11 | MED7 | O43513 | 869 |
| MED11 | MED21 | Q13503 | 823 |
| MED11 | MED29 | Q9NX70 | 819 |
| MED11 | MED31 | Q9Y3C7 | 772 |
IntAct
126 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 |
| MED29 | MED19 | psi-mi:“MI:0914”(association) | 0.890 |
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| MED10 | MED6 | psi-mi:“MI:0914”(association) | 0.870 |
| MED17 | MED22 | 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 |
| MED20 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED18 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED31 | 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 |
BioGRID (197): MED11 (Affinity Capture-MS), MED11 (Affinity Capture-MS), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED11 (Co-fractionation), MED16 (Co-fractionation), MED17 (Co-fractionation)
ESM2 similar proteins: A3KNK7, A4QP78, A4VCH4, A8E5U3, A9ULY7, G0RY74, O95295, P60192, Q0IHI6, Q13503, Q178E6, Q17NH9, Q28HX4, Q2HJG5, Q2M146, Q2TBU8, Q3B8I4, Q40554, Q4R6N3, Q5EA95, Q5PPY2, Q5PQM2, Q5RE46, Q68EW7, Q6DGZ3, Q6GPR9, Q6ID77, Q6IVW0, Q6P255, Q6PC45, Q7QB45, Q7ZTI5, Q8BXG3, Q8LCH5, Q8VD75, Q96HR3, Q96QK1, Q99LM2, Q9CQ39, Q9CQI9
Diamond homologs: A3KNK7, Q17NH9, Q32L03, Q612X6, Q68EW7, Q6P255, Q9BI74, Q9D8C6, Q9P086, Q9VVS4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MED11 | “form complex” | “Core mediator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 50 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 | 126.2× | 3e-48 |
| RSV-host interactions | 25 | 100.3× | 1e-45 |
| Adipogenesis | 25 | 100.3× | 1e-45 |
| Regulation of lipid metabolism by PPARalpha | 25 | 90.4× | 2e-44 |
| Transcriptional regulation of white adipocyte differentiation | 25 | 83.2× | 2e-43 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 15 | 82.9× | 5e-25 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 15 | 75.7× | 2e-24 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 16 | 63.3× | 1e-24 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 21 | 137.4× | 9e-40 |
| positive regulation of transcription initiation by RNA polymerase II | 22 | 130.0× | 7e-41 |
| RNA polymerase II preinitiation complex assembly | 21 | 124.1× | 8e-39 |
| somatic stem cell population maintenance | 10 | 53.9× | 1e-13 |
| transcription initiation at RNA polymerase II promoter | 5 | 40.7× | 5e-06 |
| protein ubiquitination | 10 | 9.0× | 5e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2499501 | NM_001001683.4(MED11):c.325C>T (p.Arg109Ter) | Pathogenic |
SpliceAI
466 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:4731603:G:GT | donor_gain | 1.0000 |
| 17:4731904:CAGGT:C | donor_loss | 1.0000 |
| 17:4731906:GGTC:G | donor_loss | 1.0000 |
| 17:4731907:G:GA | donor_loss | 1.0000 |
| 17:4731532:G:GT | donor_gain | 0.9900 |
| 17:4731570:TGCAG:T | donor_loss | 0.9900 |
| 17:4731572:C:T | donor_gain | 0.9900 |
| 17:4731572:CAG:C | donor_loss | 0.9900 |
| 17:4731573:AGGTT:A | donor_loss | 0.9900 |
| 17:4731574:GG:G | donor_loss | 0.9900 |
| 17:4731575:GTTC:G | donor_loss | 0.9900 |
| 17:4731576:T:A | donor_loss | 0.9900 |
| 17:4731603:G:T | donor_gain | 0.9900 |
| 17:4731645:G:GT | donor_gain | 0.9900 |
| 17:4731645:G:T | donor_gain | 0.9900 |
| 17:4731612:GC:G | donor_gain | 0.9800 |
| 17:4731657:GGT:G | donor_gain | 0.9700 |
| 17:4731631:G:GT | donor_gain | 0.9600 |
| 17:4731547:G:T | donor_gain | 0.9500 |
| 17:4731581:G:GT | donor_gain | 0.9500 |
| 17:4731617:ACCGG:A | donor_gain | 0.9500 |
| 17:4731659:TTGGG:T | donor_gain | 0.9500 |
| 17:4731905:AGGTC:A | donor_gain | 0.9500 |
| 17:4731765:C:A | acceptor_gain | 0.9400 |
| 17:4731609:A:T | donor_gain | 0.9300 |
| 17:4731656:GG:G | donor_gain | 0.9300 |
| 17:4731660:T:A | donor_gain | 0.9200 |
| 17:4731547:G:GT | donor_gain | 0.9100 |
| 17:4731618:C:G | donor_gain | 0.9100 |
| 17:4731650:G:GT | donor_gain | 0.9100 |
AlphaMissense
745 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:4731878:T:C | L63P | 0.999 |
| 17:4731899:T:A | L70H | 0.999 |
| 17:4731899:T:C | L70P | 0.999 |
| 17:4733054:C:A | A74D | 0.999 |
| 17:4733074:G:C | G81R | 0.999 |
| 17:4731572:C:A | A28E | 0.998 |
| 17:4731845:T:C | F52S | 0.998 |
| 17:4731890:T:C | I67T | 0.998 |
| 17:4733068:C:G | H79D | 0.998 |
| 17:4733074:G:T | G81C | 0.998 |
| 17:4733083:T:C | Y84H | 0.998 |
| 17:4731530:T:A | L14Q | 0.997 |
| 17:4731530:T:C | L14P | 0.997 |
| 17:4731844:T:C | F52L | 0.997 |
| 17:4731846:C:A | F52L | 0.997 |
| 17:4731846:C:G | F52L | 0.997 |
| 17:4731890:T:G | I67S | 0.997 |
| 17:4733053:G:C | A74P | 0.997 |
| 17:4733070:T:A | H79Q | 0.997 |
| 17:4733070:T:G | H79Q | 0.997 |
| 17:4733110:G:C | A93P | 0.997 |
| 17:4731521:T:C | L11P | 0.996 |
| 17:4731542:A:T | E18V | 0.996 |
| 17:4731563:T:C | L25P | 0.996 |
| 17:4731776:G:A | G29D | 0.996 |
| 17:4731790:G:A | E34K | 0.996 |
| 17:4731878:T:A | L63Q | 0.996 |
| 17:4731895:T:G | Y69D | 0.996 |
| 17:4733057:C:T | T75I | 0.996 |
| 17:4733068:C:A | H79N | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000820610 (17:4732275 T>G), RS1000851633 (17:4732015 C>A,G,T), RS1001370188 (17:4730321 G>A), RS1001427583 (17:4730929 A>G), RS1001903939 (17:4733481 G>C), RS1004606929 (17:4733599 CAA>C), RS1004749670 (17:4733866 T>A), RS1005723565 (17:4733403 C>G), RS1008026917 (17:4729835 G>A), RS1008741128 (17:4731230 T>C), RS1009547255 (17:4732620 T>C), RS1009743795 (17:4732338 G>A,C,T), RS1011615704 (17:4730229 G>C), RS1012025070 (17:4733572 TAAA>T), RS1013045462 (17:4730817 A>G)
Disease associations
OMIM: gene MIM:612383 | disease phenotypes: MIM:620327
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | Strong | Autosomal recessive |
Mondo (1): neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (MONDO:0957225)
Orphanet (0):
HPO phenotypes
27 total (27 of 27 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000126 | Hydronephrosis |
| HP:0000365 | Hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000518 | Cataract |
| HP:0000639 | Nystagmus |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001337 | Tremor |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001631 | Atrial septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001655 | Patent foramen ovale |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002267 | Exaggerated startle response |
| HP:0002380 | Fasciculations |
| HP:0002509 | Limb hypertonia |
| HP:0002878 | Respiratory failure |
| HP:0003121 | Limb joint contracture |
| HP:0003577 | Congenital onset |
| HP:0007068 | Inferior cerebellar vermis hypoplasia |
| HP:0008936 | Axial hypotonia |
| HP:0012444 | Brain atrophy |
| HP:0032398 | Dysgyria |
| HP:0032794 | Myoclonic seizure |
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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| bleomycetin | decreases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| STA 9090 | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Vanadates | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities