DNAJC18
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Also known as MGC29463
Summary
DNAJC18 (DnaJ heat shock protein family (Hsp40) member C18, HGNC:28429) is a protein-coding gene on chromosome 5q31.2, encoding DnaJ homolog subfamily C member 18 (Q9H819). (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection.
Predicted to enable Hsp70 protein binding activity. Predicted to be involved in cellular response to misfolded protein and chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum membrane.
Source: NCBI Gene 202052 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 58 total — 1 pathogenic
- MANE Select transcript:
NM_152686
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28429 |
| Approved symbol | DNAJC18 |
| Name | DnaJ heat shock protein family (Hsp40) member C18 |
| Location | 5q31.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC29463 |
| Ensembl gene | ENSG00000170464 |
| Ensembl biotype | protein_coding |
| OMIM | 621108 |
| Entrez | 202052 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000302060, ENST00000505268, ENST00000505568, ENST00000506870, ENST00000507405, ENST00000508445, ENST00000510770, ENST00000512473, ENST00000514052, ENST00000515277, ENST00000515559, ENST00000515581, ENST00000886188, ENST00000928618
RefSeq mRNA: 1 — MANE Select: NM_152686
NM_152686
CCDS: CCDS4214
Canonical transcript exons
ENST00000302060 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001128111 | 139420053 | 139420225 |
| ENSE00001128116 | 139422708 | 139422817 |
| ENSE00001128150 | 139410203 | 139414272 |
| ENSE00001302993 | 139437372 | 139437558 |
| ENSE00002042422 | 139439406 | 139439525 |
| ENSE00003459963 | 139428538 | 139428683 |
| ENSE00003484363 | 139425005 | 139425114 |
| ENSE00003686540 | 139426172 | 139426357 |
Expression profiles
Bgee: expression breadth ubiquitous, 143 present calls, max score 98.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8373 / max 272.7187, expressed in 1525 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 63755 | 3.5504 | 1385 |
| 63754 | 3.1528 | 983 |
| 63756 | 0.0802 | 4 |
| 63758 | 0.0431 | 3 |
| 63757 | 0.0107 | 3 |
Top tissues by expression
143 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 98.24 | gold quality |
| right testis | UBERON:0004534 | 97.98 | gold quality |
| testis | UBERON:0000473 | 96.89 | gold quality |
| cortical plate | UBERON:0005343 | 94.37 | gold quality |
| embryo | UBERON:0000922 | 92.66 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.66 | gold quality |
| ventricular zone | UBERON:0003053 | 91.66 | gold quality |
| corpus callosum | UBERON:0002336 | 90.59 | gold quality |
| sural nerve | UBERON:0015488 | 89.83 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.68 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.48 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.18 | gold quality |
| frontal cortex | UBERON:0001870 | 87.29 | gold quality |
| frontal lobe | UBERON:0016525 | 87.29 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.18 | gold quality |
| apex of heart | UBERON:0002098 | 86.94 | gold quality |
| cerebral cortex | UBERON:0000956 | 86.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.06 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.61 | gold quality |
| mucosa of stomach | UBERON:0001199 | 85.49 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 85.38 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.24 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 85.23 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 85.07 | gold quality |
| cerebellum | UBERON:0002037 | 85.02 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.99 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.97 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.94 | gold quality |
| brain | UBERON:0000955 | 84.88 | gold quality |
| spinal cord | UBERON:0002240 | 84.87 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
133 targeting DNAJC18, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-3681-5P | 99.82 | 66.88 | 387 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dnajc3a | ENSDARG00000041110 |
| mus_musculus | Dnajc18 | ENSMUSG00000024350 |
| rattus_norvegicus | Dnajc18 | ENSRNOG00000019995 |
| drosophila_melanogaster | Csp | FBGN0004179 |
| drosophila_melanogaster | CG10565 | FBGN0037051 |
| drosophila_melanogaster | P58IPK | FBGN0037718 |
| drosophila_melanogaster | l(3)80Fg | FBGN0287183 |
| caenorhabditis_elegans | WBGENE00001020 | |
| caenorhabditis_elegans | WBGENE00001025 | |
| caenorhabditis_elegans | WBGENE00001026 | |
| caenorhabditis_elegans | WBGENE00001029 | |
| caenorhabditis_elegans | WBGENE00001032 | |
| caenorhabditis_elegans | dnj-28 | WBGENE00001046 |
| caenorhabditis_elegans | WBGENE00008122 |
Paralogs (20): DNAJC11 (ENSG00000007923), DNAJC25 (ENSG00000059769), DNAJC10 (ENSG00000077232), DNAJC5 (ENSG00000101152), DNAJC3 (ENSG00000102580), DNAJC17 (ENSG00000104129), DNAJC2 (ENSG00000105821), DNAJC12 (ENSG00000108176), DNAJC4 (ENSG00000110011), DNAJC16 (ENSG00000116138), DNAJC14 (ENSG00000135392), DNAJC1 (ENSG00000136770), DNAJC13 (ENSG00000138246), DNAJC5B (ENSG00000147570), DNAJC5G (ENSG00000163793), DNAJC7 (ENSG00000168259), DNAJC21 (ENSG00000168724), DNAJC24 (ENSG00000170946), DNAJC30 (ENSG00000176410), DNAJC9 (ENSG00000213551)
Protein
Protein identifiers
DnaJ homolog subfamily C member 18 — Q9H819 (reviewed: Q9H819)
All UniProt accessions (9): Q9H819, A0A096LP15, D6RB03, D6RB44, D6RCS7, D6REJ9, D6RHF6, H0Y9V6, H0YA78
UniProt curated annotations — full annotation on UniProt →
Function. (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection. Regulates the recruitment of DNAJB12:DNAJB14 into SV40-induced foci and all cooperate to guide SV40 across the endoplasmic reticulum membrane. The foci represent the site from which SV40 penetrates into the cytosol.
Subcellular location. Endoplasmic reticulum membrane.
RefSeq proteins (1): NP_689899* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001623 | DnaJ_domain | Domain |
| IPR015399 | DUF1977_DnaJ-like | Domain |
| IPR018253 | DnaJ_domain_CS | Conserved_site |
| IPR036869 | J_dom_sf | Homologous_superfamily |
| IPR051100 | DnaJ_subfamily_B/C | Family |
Pfam: PF00226, PF09320
UniProt features (4 total): chain 1, transmembrane region 1, domain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H819-F1 | 71.31 | 0.28 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 110 | loss of colocalization with sv40-induced foci upon sv40 invection. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 92 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_PROTEIN_MATURATION, TGCTGAY_UNKNOWN, GOBP_PROTEIN_FOLDING, GOBP_RESPONSE_TO_MISFOLDED_PROTEIN, GOBP_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, chr5q31, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_HEAT_SHOCK_PROTEIN_BINDING, GOMF_PROTEIN_FOLDING_CHAPERONE_BINDING
GO Biological Process (1): cellular response to misfolded protein (GO:0071218)
GO Molecular Function (1): Hsp70 protein binding (GO:0030544)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular response to topologically incorrect protein | 1 |
| response to misfolded protein | 1 |
| heat shock protein binding | 1 |
| protein-folding chaperone binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1969 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DNAJC18 | SPATA24 | Q86W54 | 673 |
| DNAJC18 | DNAJC8 | O75937 | 667 |
| DNAJC18 | SGTA | O43765 | 647 |
| DNAJC18 | HSPH1 | Q92598 | 636 |
| DNAJC18 | SMIM33 | A0A1B0GW64 | 623 |
| DNAJC18 | EMC1 | Q8N766 | 572 |
| DNAJC18 | DNAJC22 | Q8N4W6 | 559 |
| DNAJC18 | DNAJC28 | Q9NX36 | 538 |
| DNAJC18 | DNAJC24 | Q6P3W2 | 529 |
| DNAJC18 | HSPB9 | Q9BQS6 | 527 |
| DNAJC18 | SIRAL2 | Q9NWS6 | 506 |
| DNAJC18 | DNAJC2 | Q99543 | 494 |
| DNAJC18 | HSPA8 | P11142 | 487 |
| DNAJC18 | ECSCR | Q19T08 | 479 |
| DNAJC18 | ERP29 | P30040 | 462 |
IntAct
71 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ADCY9 | NEMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| KCNA5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| FSHR | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNS3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| GABRD | ATF6 | psi-mi:“MI:0914”(association) | 0.530 |
| CHST6 | CANX | psi-mi:“MI:0914”(association) | 0.530 |
| TCIRG1 | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRNA9 | CHEK1 | psi-mi:“MI:0914”(association) | 0.530 |
| IL27RA | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| GABRG2 | GPAA1 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRND | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| PTGIR | TMEM63A | psi-mi:“MI:0914”(association) | 0.530 |
| ANO4 | ANO6 | psi-mi:“MI:0914”(association) | 0.530 |
| DGCR2 | HOXD13 | psi-mi:“MI:0914”(association) | 0.530 |
| UNC93B1 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJC18 | dacD | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHRNA9 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHAC1 | C2CD2L | psi-mi:“MI:0914”(association) | 0.350 |
| IL27RA | NRP1 | psi-mi:“MI:0914”(association) | 0.350 |
| GABRG2 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.350 |
| PTGIR | GPAA1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (104): DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS)
ESM2 similar proteins: A1YVX4, A2ALW5, A3KMI0, A5DTG8, F4JIN3, O13633, O88379, P09758, P34454, P41229, P43613, P70302, P83093, P84903, P92029, Q0WT48, Q13586, Q149L6, Q17433, Q19293, Q28056, Q28I38, Q2QUP1, Q38JA7, Q3UZP0, Q58CP9, Q58E03, Q5BJW9, Q5EA26, Q5HZT9, Q61712, Q6PGC1, Q7XVN7, Q7Z478, Q7ZXQ8, Q8GUN6, Q8IMZ9, Q90830, Q91WT4, Q95KD5
Diamond homologs: A0AIS3, A0Q1R3, A1W0P5, A4IR30, A5ITA7, A5N6M3, A5UYW4, A5VJE8, A6LJ63, A6Q486, A6QBG7, A6QHC2, A6U251, A7H2C0, A7NS65, A7X2Y0, A8Z4B8, B1HUD0, B1XQF6, B2G6W4, B2TLZ8, B2V2I6, B5ENA2, B5YAR4, B7J7X8, B8DE39, B9DNJ9, C1KVB9, C5D4U0, G2K045, O13633, O69269, O75953, O89114, P0CW06, P0CW07, P0DJM1, P25491, P30725, P48353
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 90 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 |
|---|---|---|---|
| G alpha (s) signalling events | 6 | 7.0× | 7e-03 |
| Neuronal System | 8 | 5.6× | 3e-03 |
| Transport of small molecules | 10 | 4.0× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| acetylcholine receptor signaling pathway | 5 | 37.6× | 3e-05 |
| membrane depolarization | 6 | 36.9× | 4e-06 |
| monoatomic ion transmembrane transport | 9 | 22.6× | 2e-07 |
| chloride transmembrane transport | 7 | 20.0× | 1e-05 |
| regulation of membrane potential | 5 | 13.9× | 2e-03 |
| sodium ion transmembrane transport | 5 | 12.2× | 3e-03 |
| potassium ion transmembrane transport | 7 | 11.5× | 4e-04 |
| monoatomic ion transport | 6 | 11.3× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 58117 | GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3 | Pathogenic |
SpliceAI
1467 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:139420051:A:AC | donor_gain | 1.0000 |
| 5:139420052:C:CC | donor_gain | 1.0000 |
| 5:139420098:AAT:A | donor_gain | 1.0000 |
| 5:139422706:A:AC | donor_gain | 1.0000 |
| 5:139422707:C:CC | donor_gain | 1.0000 |
| 5:139425000:GGTAC:G | donor_loss | 1.0000 |
| 5:139425001:GTAC:G | donor_loss | 1.0000 |
| 5:139425002:TACC:T | donor_loss | 1.0000 |
| 5:139425003:AC:A | donor_loss | 1.0000 |
| 5:139425004:C:CA | donor_loss | 1.0000 |
| 5:139425021:T:TA | donor_gain | 1.0000 |
| 5:139425111:TTTC:T | acceptor_gain | 1.0000 |
| 5:139426167:CTAA:C | donor_loss | 1.0000 |
| 5:139426168:TAA:T | donor_loss | 1.0000 |
| 5:139426169:AAC:A | donor_loss | 1.0000 |
| 5:139426170:A:C | donor_loss | 1.0000 |
| 5:139426171:C:CA | donor_loss | 1.0000 |
| 5:139439408:T:A | donor_gain | 1.0000 |
| 5:139414123:AGC:A | donor_gain | 0.9900 |
| 5:139414132:TAGG:T | donor_gain | 0.9900 |
| 5:139414133:AGGA:A | donor_gain | 0.9900 |
| 5:139414142:AT:A | donor_gain | 0.9900 |
| 5:139414148:TCAGC:T | donor_gain | 0.9900 |
| 5:139414149:CAGCC:C | donor_gain | 0.9900 |
| 5:139414150:AGCCA:A | donor_gain | 0.9900 |
| 5:139414152:C:CT | donor_gain | 0.9900 |
| 5:139420047:T:C | donor_gain | 0.9900 |
| 5:139420052:CT:C | donor_gain | 0.9900 |
| 5:139420100:T:TA | donor_gain | 0.9900 |
| 5:139420104:T:TA | donor_gain | 0.9900 |
AlphaMissense
2344 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:139428542:G:C | F123L | 1.000 |
| 5:139428542:G:T | F123L | 1.000 |
| 5:139428543:A:G | F123S | 1.000 |
| 5:139428544:A:G | F123L | 1.000 |
| 5:139428572:C:A | K113N | 1.000 |
| 5:139428572:C:G | K113N | 1.000 |
| 5:139428581:G:C | H110Q | 1.000 |
| 5:139428581:G:T | H110Q | 1.000 |
| 5:139428583:G:C | H110D | 1.000 |
| 5:139428583:G:T | H110N | 1.000 |
| 5:139428594:G:T | A106D | 1.000 |
| 5:139428602:T:A | R103S | 1.000 |
| 5:139428602:T:G | R103S | 1.000 |
| 5:139428607:A:C | Y102D | 1.000 |
| 5:139414191:C:G | C345S | 0.999 |
| 5:139414192:A:T | C345S | 0.999 |
| 5:139414263:A:G | L321P | 0.999 |
| 5:139420072:A:C | C311W | 0.999 |
| 5:139420073:C:G | C311S | 0.999 |
| 5:139420073:C:T | C311Y | 0.999 |
| 5:139420074:A:G | C311R | 0.999 |
| 5:139420074:A:T | C311S | 0.999 |
| 5:139420176:A:C | Y277D | 0.999 |
| 5:139422783:A:T | V235D | 0.999 |
| 5:139426191:A:C | F180L | 0.999 |
| 5:139426191:A:T | F180L | 0.999 |
| 5:139426193:A:G | F180L | 0.999 |
| 5:139426203:G:C | F176L | 0.999 |
| 5:139426203:G:T | F176L | 0.999 |
| 5:139426205:A:G | F176L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000092606 (5:139437068 G>T), RS1000154802 (5:139413980 A>T), RS1000226115 (5:139430048 T>C), RS1000235682 (5:139434704 T>A), RS1000443009 (5:139437318 A>G), RS1000522360 (5:139436446 A>G), RS1000573349 (5:139436098 T>C), RS1000694080 (5:139414423 G>A), RS1000932902 (5:139421754 G>A), RS1001503892 (5:139429041 T>C,G), RS1001581667 (5:139441010 C>T), RS1001722211 (5:139429967 C>A), RS1001741265 (5:139413102 T>C), RS1001777759 (5:139429646 T>C), RS1001955366 (5:139436992 A>G)
Disease associations
OMIM: gene MIM:621108 | disease phenotypes: MIM:615934
GenCC curated gene-disease
Mondo (1): STING-associated vasculopathy with onset in infancy (MONDO:0014405)
Orphanet (1): STING-associated vasculopathy with onset in infancy (Orphanet:425120)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_151 | Body mass index | 6.000000e-07 |
| GCST006138_29 | Resting-state electroencephalogram vigilance | 9.000000e-06 |
| GCST008758_52 | Pre-treatment viral load in HIV-1 infection | 2.000000e-16 |
| GCST010725_68 | Malaria | 4.000000e-07 |
| GCST010725_7 | Malaria | 2.000000e-06 |
| GCST011205_13 | Hypertrophic cardiomyopathy (MTAG) | 3.000000e-09 |
| GCST011211_8 | Hypertrophic cardiomyopathy | 5.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004357 | electroencephalogram measurement |
| EFO:0010125 | viral load |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 5 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Chenodeoxycholic Acid | affects cotreatment, increases expression, decreases expression | 2 |
| Deoxycholic Acid | affects cotreatment, increases expression, decreases expression | 2 |
| Glycochenodeoxycholic Acid | affects cotreatment, increases expression, decreases expression | 2 |
| Glycocholic Acid | affects cotreatment, increases expression, decreases expression | 2 |
| Glycodeoxycholic Acid | affects cotreatment, increases expression, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| nefazodone | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diclofenac | affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tartrazine | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04517253 | PHASE2/PHASE3 | TERMINATED | A Study of Baricitinib (LY3009104) in Adult and Pediatric Japanese Participants With NNS/CANDLE, SAVI, and AGS |
| NCT02974595 | Not specified | RECRUITING | Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still’S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): STING-associated vasculopathy with onset in infancy