MED22
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Also known as Med24SRB6
Summary
MED22 (mediator complex subunit 22, HGNC:11477) is a protein-coding gene on chromosome 9q34.2, encoding Mediator of RNA polymerase II transcription subunit 22 (Q15528). 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 98.9% of cancer cell lines).
This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed.
Source: NCBI Gene 6837 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Moderate, GenCC)
- GWAS associations: 29
- Clinical variants (ClinVar): 195 total — 2 likely-pathogenic
- Cancer dependency (DepMap): dependent in 98.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_133640
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11477 |
| Approved symbol | MED22 |
| Name | mediator complex subunit 22 |
| Location | 9q34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Med24, SRB6 |
| Ensembl gene | ENSG00000148297 |
| Ensembl biotype | protein_coding |
| OMIM | 185641 |
| Entrez | 6837 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000343730, ENST00000371999, ENST00000446777, ENST00000457204, ENST00000471524, ENST00000482295, ENST00000494177, ENST00000610672, ENST00000610888, ENST00000614493, ENST00000904047, ENST00000925577, ENST00000925578, ENST00000925579
RefSeq mRNA: 2 — MANE Select: NM_133640
NM_133640, NM_181491
CCDS: CCDS6963, CCDS6964
Canonical transcript exons
ENST00000343730 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001136284 | 133346540 | 133346700 |
| ENSE00001386820 | 133338312 | 133341694 |
| ENSE00003561732 | 133345172 | 133345252 |
| ENSE00003786854 | 133344125 | 133344333 |
| ENSE00003890317 | 133347922 | 133348131 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 88.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3767 / max 73.3363, expressed in 1793 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102983 | 11.2020 | 1790 |
| 102982 | 0.1747 | 61 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 88.35 | gold quality |
| granulocyte | CL:0000094 | 87.78 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.43 | gold quality |
| lower esophagus | UBERON:0013473 | 87.42 | gold quality |
| blood | UBERON:0000178 | 87.16 | gold quality |
| sural nerve | UBERON:0015488 | 86.59 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 86.57 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 86.51 | gold quality |
| right coronary artery | UBERON:0001625 | 86.49 | gold quality |
| body of uterus | UBERON:0009853 | 86.37 | gold quality |
| mucosa of stomach | UBERON:0001199 | 86.29 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.26 | gold quality |
| apex of heart | UBERON:0002098 | 85.88 | gold quality |
| left uterine tube | UBERON:0001303 | 85.78 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.64 | gold quality |
| endocervix | UBERON:0000458 | 85.58 | gold quality |
| myometrium | UBERON:0001296 | 85.51 | gold quality |
| monocyte | CL:0000576 | 85.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.39 | gold quality |
| leukocyte | CL:0000738 | 85.38 | gold quality |
| popliteal artery | UBERON:0002250 | 85.34 | gold quality |
| tibial artery | UBERON:0007610 | 85.34 | gold quality |
| frontal cortex | UBERON:0001870 | 85.11 | gold quality |
| right ovary | UBERON:0002118 | 84.95 | gold quality |
| ventricular zone | UBERON:0003053 | 84.71 | gold quality |
| heart left ventricle | UBERON:0002084 | 84.70 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.65 | gold quality |
| thoracic aorta | UBERON:0001515 | 84.63 | gold quality |
| ascending aorta | UBERON:0001496 | 84.57 | gold quality |
| esophagus | UBERON:0001043 | 84.56 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.88 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT5A, STAT5B
miRNA regulators (miRDB)
5 targeting MED22, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-6793-3P | 97.66 | 65.78 | 1084 |
| HSA-MIR-664B-5P | 96.74 | 67.50 | 509 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 4)
- Hu-Surf5 encodes three different transcripts, Surf-5a, Surf-5b, and Surf-5c, which result from alternative splicing. (PMID:11891058)
- functional communications between the MED1 subunit and the MED24-containing submodule that mediate estrogen receptor functions and growth of both normal mammary epithelial cells and breast carcinoma cells. (PMID:22331469)
- Inactivation of mediator complex protein 22 in podocytes results in intracellular vacuole formation, podocyte loss and premature death. (PMID:33208756)
- This publication also contains human sequence. (PMID:8586415)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | med22 | ENSDARG00000014148 |
| mus_musculus | Med22 | ENSMUSG00000015776 |
| rattus_norvegicus | Med22 | ENSRNOG00000005059 |
| drosophila_melanogaster | MED22 | FBGN0040339 |
| drosophila_melanogaster | CG32971 | FBGN0052971 |
| caenorhabditis_elegans | WBGENE00007022 |
Protein
Protein identifiers
Mediator of RNA polymerase II transcription subunit 22 — Q15528 (reviewed: Q15528)
Alternative names: Mediator complex subunit 22, Surfeit locus protein 5
All UniProt accessions (5): Q15528, E7EN96, E9PGW7, Q5T8T7, Q5T8T8
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 22 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15528-1 | Surf5B | yes |
| Q15528-2 | Surf5A |
RefSeq proteins (2): NP_598395, NP_852468 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009332 | Med22 | Family |
Pfam: PF06179
UniProt features (8 total): helix 3, chain 1, region of interest 1, coiled-coil region 1, splice variant 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-Q15528-F1 | 79.78 | 0.52 |
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: 299 (showing top):
REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, AACYNNNNTTCCS_UNKNOWN, CHX10_01, PUJANA_CHEK2_PCC_NETWORK, BROWNE_HCMV_INFECTION_24HR_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, OCT1_03, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION
GO Biological Process (4): 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 (2): transcription coregulator activity (GO:0003712), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), 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 |
| cellular anatomical structure | 2 |
| 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 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| core mediator complex | 1 |
| nuclear protein-containing complex | 1 |
| RNA polymerase II transcription regulator complex | 1 |
Protein interactions and networks
STRING
1181 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MED22 | MED11 | Q9P086 | 999 |
| MED22 | MED8 | Q96G25 | 996 |
| MED22 | MED6 | O75586 | 996 |
| MED22 | MED17 | Q9NVC6 | 994 |
| MED22 | MED18 | Q9BUE0 | 991 |
| MED22 | MED20 | Q9H944 | 984 |
| MED22 | MED30 | Q96HR3 | 983 |
| MED22 | MED10 | Q9BTT4 | 971 |
| MED22 | MED27 | Q6P2C8 | 946 |
| MED22 | SURF6 | O75683 | 918 |
| MED22 | MED14 | O60244 | 906 |
| MED22 | MED7 | O43513 | 896 |
| MED22 | RPL7A | P11518 | 893 |
| MED22 | MED15 | Q96RN5 | 878 |
| MED22 | MED16 | Q9Y2X0 | 866 |
IntAct
125 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 |
| CDK8 | MED14 | 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 |
| MED17 | MED22 | psi-mi:“MI:0914”(association) | 0.860 |
| MED17 | MED22 | psi-mi:“MI:0915”(physical association) | 0.860 |
| MED22 | MED17 | psi-mi:“MI:0915”(physical association) | 0.860 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| CDK8 | MED19 | psi-mi:“MI:0914”(association) | 0.850 |
BioGRID (228): MED22 (Affinity Capture-MS), MED22 (Affinity Capture-MS), MED22 (Affinity Capture-MS), MED22 (Affinity Capture-MS), MED22 (Affinity Capture-MS), MED22 (Affinity Capture-MS), MED22 (Co-fractionation), MED22 (Co-fractionation), MED22 (Co-fractionation), MED22 (Co-fractionation), MED22 (Co-fractionation), MED22 (Affinity Capture-Western), MED22 (Synthetic Growth Defect), MED22 (Proximity Label-MS), MED22 (Proximity Label-MS)
ESM2 similar proteins: A0A5F9C6I2, A0JPN6, A4IIZ9, A5WUL3, D3ZUQ0, D3ZXK7, F1R7R1, O43513, O57595, O75916, P51593, P53349, P68943, P85299, Q08DY8, Q13233, Q15528, Q17QG3, Q2F7Z4, Q2TBN4, Q2YDF2, Q3B8I4, Q3T123, Q5BJ48, Q5E9K2, Q5EBL4, Q5FVG6, Q5RKN3, Q5XIX8, Q5XPI3, Q5XPI4, Q62276, Q62739, Q6GQ95, Q6QB00, Q6ZUS6, Q7TMY8, Q7ZV35, Q800L3, Q80U62
Diamond homologs: A0JPN6, A5WUL3, O57595, Q15528, Q178E6, Q23679, Q54XB0, Q5E9K2, Q62276, Q626S1, Q6GQ95, Q7QB45, Q800L3, Q8LCH5, Q9SA42, Q9V439
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MED22 | “form complex” | “Core mediator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 55 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 | 26 | 121.9× | 2e-49 |
| RSV-host interactions | 26 | 96.8× | 1e-46 |
| Adipogenesis | 26 | 96.8× | 1e-46 |
| Regulation of lipid metabolism by PPARalpha | 26 | 87.3× | 2e-45 |
| Transcriptional regulation of white adipocyte differentiation | 26 | 80.3× | 2e-44 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 15 | 77.0× | 3e-24 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 15 | 70.3× | 1e-23 |
| PPARA activates gene expression | 26 | 58.4× | 2e-40 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 22 | 147.1× | 2e-42 |
| RNA polymerase II preinitiation complex assembly | 22 | 132.9× | 1e-41 |
| positive regulation of transcription initiation by RNA polymerase II | 22 | 132.9× | 1e-41 |
| somatic stem cell population maintenance | 11 | 60.6× | 1e-15 |
| transcription initiation at RNA polymerase II promoter | 7 | 58.2× | 1e-09 |
| protein ubiquitination | 11 | 10.1× | 3e-07 |
| transcription by RNA polymerase II | 5 | 7.8× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
195 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 146 |
| Likely benign | 6 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 599495 | NM_014815.4(MED24):c.1247C>G (p.Thr416Ser) | Likely pathogenic |
| 599496 | NM_014815.4(MED24):c.2288G>A (p.Arg763Gln) | Likely pathogenic |
SpliceAI
4973 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:40019776:GGTAC:G | donor_loss | 1.0000 |
| 17:40019777:GTACT:G | donor_loss | 1.0000 |
| 17:40019778:TAC:T | donor_loss | 1.0000 |
| 17:40019779:ACTC:A | donor_loss | 1.0000 |
| 17:40019780:CTC:C | donor_loss | 1.0000 |
| 17:40019781:T:TG | donor_loss | 1.0000 |
| 17:40019782:CACG:C | donor_loss | 1.0000 |
| 17:40019783:A:AC | donor_gain | 1.0000 |
| 17:40019784:C:CA | donor_gain | 1.0000 |
| 17:40019784:C:T | donor_loss | 1.0000 |
| 17:40019784:CG:C | donor_gain | 1.0000 |
| 17:40019784:CGG:C | donor_gain | 1.0000 |
| 17:40019784:CGGT:C | donor_gain | 1.0000 |
| 17:40019784:CGGTG:C | donor_gain | 1.0000 |
| 17:40019934:C:CC | acceptor_gain | 1.0000 |
| 17:40019943:G:GC | acceptor_gain | 1.0000 |
| 17:40021949:A:AC | donor_gain | 1.0000 |
| 17:40021950:C:CC | donor_gain | 1.0000 |
| 17:40021950:CTCA:C | donor_gain | 1.0000 |
| 17:40021953:A:AC | donor_gain | 1.0000 |
| 17:40021954:C:CG | donor_gain | 1.0000 |
| 17:40021954:CTG:C | donor_gain | 1.0000 |
| 17:40021981:T:TA | donor_gain | 1.0000 |
| 17:40022050:TAATC:T | acceptor_gain | 1.0000 |
| 17:40022051:AATC:A | acceptor_gain | 1.0000 |
| 17:40022052:ATC:A | acceptor_gain | 1.0000 |
| 17:40022053:TC:T | acceptor_gain | 1.0000 |
| 17:40022054:CC:C | acceptor_gain | 1.0000 |
| 17:40022055:C:CC | acceptor_gain | 1.0000 |
| 17:40022388:GCCTA:G | donor_loss | 1.0000 |
AlphaMissense
1297 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:133344293:A:G | L82P | 0.999 |
| 9:133345183:C:G | A65P | 0.999 |
| 9:133346598:A:G | L22P | 0.999 |
| 9:133344281:A:G | L86P | 0.998 |
| 9:133344314:A:G | L75P | 0.998 |
| 9:133344318:A:G | S74P | 0.998 |
| 9:133344327:C:G | A71P | 0.998 |
| 9:133344329:C:G | R70P | 0.998 |
| 9:133345180:C:G | A66P | 0.998 |
| 9:133345182:G:T | A65D | 0.998 |
| 9:133345185:C:G | R64P | 0.998 |
| 9:133346567:G:C | N32K | 0.998 |
| 9:133346567:G:T | N32K | 0.998 |
| 9:133344158:A:G | L127P | 0.997 |
| 9:133344275:A:G | L88P | 0.997 |
| 9:133344289:C:A | K83N | 0.997 |
| 9:133344289:C:G | K83N | 0.997 |
| 9:133344305:A:G | L78P | 0.997 |
| 9:133344149:A:G | L130P | 0.996 |
| 9:133344332:A:T | V69D | 0.996 |
| 9:133346601:C:G | R21P | 0.996 |
| 9:133344191:A:G | L116P | 0.995 |
| 9:133344266:A:C | F91C | 0.995 |
| 9:133344275:A:T | L88H | 0.995 |
| 9:133344278:A:T | I87N | 0.995 |
| 9:133344323:C:T | G72D | 0.995 |
| 9:133344179:C:G | R120P | 0.994 |
| 9:133344326:G:T | A71D | 0.994 |
| 9:133345188:A:T | V63E | 0.994 |
| 9:133346544:G:T | A40D | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000034576 (9:133342782 G>A,C), RS1000171207 (9:133346889 G>T), RS1000438055 (9:133347855 A>C,T), RS1000861174 (9:133347994 C>T), RS1001079473 (9:133347738 C>A), RS1001377200 (9:133338188 G>A), RS1001498251 (9:133338979 A>G), RS1002209863 (9:133343104 T>C), RS1002249886 (9:133348033 TC>T), RS1002265289 (9:133337850 G>A,C), RS1002356918 (9:133343026 C>T), RS1002598791 (9:133338995 G>A,C), RS1002652750 (9:133344927 T>C), RS1002726303 (9:133343375 C>G,T), RS1002764919 (9:133349121 T>C)
Disease associations
OMIM: gene MIM:185641 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Moderate | Autosomal recessive |
Mondo (1): complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
29 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000589_4 | White blood cell count | 3.000000e-14 |
| GCST001137_10 | White blood cell count | 9.000000e-35 |
| GCST001137_8 | White blood cell count | 2.000000e-31 |
| GCST001302_2 | White blood cell count | 2.000000e-12 |
| GCST001302_4 | White blood cell count | 1.000000e-12 |
| GCST001793_1 | Coagulation factor levels | 4.000000e-34 |
| GCST001793_4 | Coagulation factor levels | 1.000000e-128 |
| GCST002557_5 | Neutrophil count | 3.000000e-23 |
| GCST002557_6 | Neutrophil count | 1.000000e-10 |
| GCST004126_2 | White blood cell count | 9.000000e-11 |
| GCST005024_87 | Pursuit maintenance gain | 2.000000e-06 |
| GCST005974_6 | Neutrophil count | 4.000000e-56 |
| GCST007235_9 | Pancreatic ductal adenocarcinoma | 7.000000e-06 |
| GCST007395_3 | Mitochondrial DNA copy number | 7.000000e-07 |
| GCST007399_2 | Mitochondrial DNA copy number | 2.000000e-07 |
| GCST008058_268 | Estimated glomerular filtration rate | 5.000000e-08 |
| GCST008059_214 | Estimated glomerular filtration rate | 7.000000e-08 |
| GCST008103_61 | Bipolar disorder | 6.000000e-07 |
| GCST008916_21 | Asthma | 2.000000e-62 |
| GCST008916_36 | Asthma | 6.000000e-13 |
| GCST008916_85 | Asthma | 2.000000e-12 |
| GCST009731_5 | Blood protein levels in cardiovascular risk | 2.000000e-16 |
| GCST010002_123 | Refractive error | 1.000000e-24 |
| GCST010725_19 | Malaria | 9.000000e-11 |
| GCST010725_31 | Malaria | 9.000000e-21 |
| GCST010725_98 | Malaria | 1.000000e-19 |
| GCST90002381_115 | Eosinophil count | 2.000000e-16 |
| GCST90002399_237 | Neutrophil percentage of white cells | 3.000000e-53 |
| GCST90002407_133 | White blood cell count | 7.000000e-54 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0006312 | mitochondrial DNA measurement |
| EFO:0007774 | thrombomodulin measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pyrimidifen | decreases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | decreases expression, affects binding | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bipolar disorder, complex neurodevelopmental disorder, exocrine pancreatic carcinoma, malaria