DNAJC11
gene geneOn this page
Also known as FLJ10737
Summary
DNAJC11 (DnaJ heat shock protein family (Hsp40) member C11, HGNC:25570) is a protein-coding gene on chromosome 1p36.31, encoding DnaJ homolog subfamily C member 11 (Q9NVH1). Required for mitochondrial inner membrane organization. It is a selective cancer dependency (DepMap: 61.4% of cell lines).
Involved in cristae formation. Located in MICOS complex; SAM complex; and nuclear speck. Part of MIB complex.
Source: NCBI Gene 55735 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 84 total
- Cancer dependency (DepMap): dependent in 61.4% of screened cell lines
- MANE Select transcript:
NM_018198
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25570 |
| Approved symbol | DNAJC11 |
| Name | DnaJ heat shock protein family (Hsp40) member C11 |
| Location | 1p36.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10737 |
| Ensembl gene | ENSG00000007923 |
| Ensembl biotype | protein_coding |
| OMIM | 614827 |
| Entrez | 55735 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 15 protein_coding, 12 retained_intron, 6 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay
ENST00000294401, ENST00000377577, ENST00000426784, ENST00000451196, ENST00000460594, ENST00000465508, ENST00000465911, ENST00000469318, ENST00000472414, ENST00000473993, ENST00000485073, ENST00000685129, ENST00000685360, ENST00000685485, ENST00000686243, ENST00000688162, ENST00000688524, ENST00000689025, ENST00000689169, ENST00000689474, ENST00000690062, ENST00000690452, ENST00000691444, ENST00000691481, ENST00000693337, ENST00000885067, ENST00000885068, ENST00000885069, ENST00000885070, ENST00000885071, ENST00000885072, ENST00000939001, ENST00000939002, ENST00000939003, ENST00000954225, ENST00000954226
RefSeq mRNA: 1 — MANE Select: NM_018198
NM_018198
CCDS: CCDS87
Canonical transcript exons
ENST00000377577 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001787167 | 6645041 | 6645126 |
| ENSE00001805559 | 6638295 | 6638364 |
| ENSE00002155401 | 6645789 | 6645978 |
| ENSE00003458382 | 6637447 | 6637504 |
| ENSE00003464933 | 6678394 | 6678467 |
| ENSE00003469839 | 6651529 | 6651602 |
| ENSE00003515843 | 6644558 | 6644674 |
| ENSE00003550242 | 6652829 | 6652951 |
| ENSE00003551429 | 6667709 | 6667810 |
| ENSE00003568465 | 6636117 | 6636246 |
| ENSE00003629167 | 6639902 | 6640057 |
| ENSE00003653255 | 6653911 | 6654039 |
| ENSE00003670393 | 6634170 | 6635700 |
| ENSE00003679343 | 6680908 | 6681037 |
| ENSE00003692941 | 6637198 | 6637340 |
| ENSE00003849078 | 6701729 | 6701816 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 95.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.2419 / max 459.3157, expressed in 1812 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 10066 | 25.4603 | 1812 |
| 10065 | 0.7816 | 518 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| metanephros cortex | UBERON:0010533 | 95.58 | gold quality |
| apex of heart | UBERON:0002098 | 94.23 | gold quality |
| rectum | UBERON:0001052 | 94.21 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.93 | gold quality |
| sural nerve | UBERON:0015488 | 93.72 | gold quality |
| renal medulla | UBERON:0000362 | 93.38 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.29 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.86 | gold quality |
| transverse colon | UBERON:0001157 | 92.56 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.55 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.48 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.33 | gold quality |
| muscle of leg | UBERON:0001383 | 92.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.26 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.19 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.10 | gold quality |
| adrenal gland | UBERON:0002369 | 91.98 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.87 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.85 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.80 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.62 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.51 | gold quality |
| heart | UBERON:0000948 | 91.19 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 91.11 | gold quality |
| endometrium epithelium | UBERON:0004811 | 91.09 | silver quality |
| cardiac atrium | UBERON:0002081 | 90.94 | gold quality |
| body of stomach | UBERON:0001161 | 90.46 | gold quality |
| frontal pole | UBERON:0002795 | 90.46 | gold quality |
| colon | UBERON:0001155 | 90.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting DNAJC11, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 61.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- FLJ10737 and CAMTA1 genes on 1p36.31-p36.23 are candidate tumor suppressor genes of neuroblastoma (PMID:12964007)
- FLJ10737 protein consists of the DnaJ domain, bipartite NLS, FADH domain, and FEMCA domain. Mouse E030019A03, zebrafish MGC55845, Drosophila CG8531 and Arabidopsis At2g35720 were homologs of human FLJ10737. (PMID:12964007)
- no evidence for somatic mutations in CAMTA1 in neuroblastoma (PMID:17222547)
- mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import; DnaJC11 is a chaperone-like protein that may have a similar role (PMID:17624330)
- a link between DNAJC11 and neuromuscular diseases (PMID:25111180)
- CircDNAJC11 interacts with TAF15 to promote breast cancer progression via enhancing MAPK6 expression and activating the MAPK signaling pathway. (PMID:36895010)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dnajc11a | ENSDARG00000011196 |
| danio_rerio | dnajc11b | ENSDARG00000102696 |
| mus_musculus | Dnajc11 | ENSMUSG00000039768 |
| rattus_norvegicus | Dnajc11 | ENSRNOG00000008802 |
| drosophila_melanogaster | CG8531 | FBGN0033918 |
| caenorhabditis_elegans | WBGENE00001020 | |
| caenorhabditis_elegans | WBGENE00001025 | |
| caenorhabditis_elegans | dnj-28 | WBGENE00001046 |
| caenorhabditis_elegans | WBGENE00008122 |
Paralogs (20): 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), DNAJC18 (ENSG00000170464), DNAJC24 (ENSG00000170946), DNAJC30 (ENSG00000176410), DNAJC9 (ENSG00000213551)
Protein
Protein identifiers
DnaJ homolog subfamily C member 11 — Q9NVH1 (reviewed: Q9NVH1)
All UniProt accessions (6): Q9NVH1, A0A8I5KRM1, A0A8I5KXQ7, A0A8I5QJB4, B1AK20, Q5TH61
UniProt curated annotations — full annotation on UniProt →
Function. Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex.
Subunit / interactions. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both mitochondrial membranes termed the mitochondrial intermembrane space bridging (MIB) complex.
Subcellular location. Mitochondrion Mitochondrion outer membrane.
Similarity. Belongs to the DNAJC11 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVH1-1 | 1 | yes |
| Q9NVH1-2 | 2 | |
| Q9NVH1-3 | 3 |
RefSeq proteins (1): NP_060668* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001623 | DnaJ_domain | Domain |
| IPR018253 | DnaJ_domain_CS | Conserved_site |
| IPR024586 | DnaJ-like_C11_C | Domain |
| IPR036869 | J_dom_sf | Homologous_superfamily |
| IPR052243 | Mito_inner_membrane_organizer | Family |
| IPR055225 | DNAJC11-like_beta-barrel | Domain |
Pfam: PF00226, PF11875, PF22774
UniProt features (12 total): sequence variant 3, modified residue 2, splice variant 2, initiator methionine 1, chain 1, sequence conflict 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVH1-F1 | 84.57 | 0.39 |
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 (2): 2, 204
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8949613 | Cristae formation |
MSigDB gene sets: 170 (showing top):
E2F_Q4, MORF_DNMT1, E2F_Q4_01, PAX4_01, WHITE_NEUROBLASTOMA_WITH_1P36.3_DELETION, TGACCTY_ERR1_Q2, MORF_HDAC2, GOBP_CRISTAE_FORMATION, E2F_Q3, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, TGCTGAY_UNKNOWN, MORF_BUB3, MORF_RFC4, MORF_PRKDC, GOCC_MITOCHONDRIAL_ENVELOPE
GO Biological Process (2): inner mitochondrial membrane organization (GO:0007007), cristae formation (GO:0042407)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): SAM complex (GO:0001401), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), nuclear speck (GO:0016607), MIB complex (GO:0140275), membrane (GO:0016020), MICOS complex (GO:0061617)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial biogenesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| inner mitochondrial membrane protein complex | 2 |
| mitochondrial membrane organization | 1 |
| inner mitochondrial membrane organization | 1 |
| binding | 1 |
| mitochondrial outer membrane translocase complex | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
2761 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DNAJC11 | SAMM50 | Q9Y512 | 871 |
| DNAJC11 | IMMT | Q16891 | 835 |
| DNAJC11 | APOOL | Q6UXV4 | 792 |
| DNAJC11 | CHCHD3 | Q9NX63 | 782 |
| DNAJC11 | APOO | Q9BUR5 | 772 |
| DNAJC11 | MTX1 | Q13505 | 757 |
| DNAJC11 | CHCHD6 | Q9BRQ6 | 705 |
| DNAJC11 | MTX2 | O75431 | 699 |
| DNAJC11 | DNAJC4 | Q9NNZ3 | 686 |
| DNAJC11 | MICOS10 | Q5TGZ0 | 629 |
| DNAJC11 | THAP3 | Q8WTV1 | 625 |
| DNAJC11 | MICOS13 | Q5XKP0 | 621 |
| DNAJC11 | HSPA9 | P30036 | 610 |
| DNAJC11 | DNAJC30 | Q96LL9 | 573 |
| DNAJC11 | CHCHD10 | Q8WYQ3 | 541 |
IntAct
151 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IMMT | MTX2 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ARMC1 | DNAJC11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| PM20D2 | DNAJC11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LXN | DNAJC11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VPS52 | DNAJC11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APOOL | MTX2 | psi-mi:“MI:0914”(association) | 0.530 |
| rep | IDE | psi-mi:“MI:0914”(association) | 0.530 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| MCOLN3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRABD | FCN1 | psi-mi:“MI:0914”(association) | 0.530 |
| RIC3 | ATP9A | psi-mi:“MI:0914”(association) | 0.530 |
| SUOX | CES3 | psi-mi:“MI:0914”(association) | 0.530 |
| EMILIN1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM184A | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPA8 | ARHGEF10 | psi-mi:“MI:2364”(proximity) | 0.480 |
| AIFM1 | HAX1 | psi-mi:“MI:0914”(association) | 0.420 |
| AIFM1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| AIFM1 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| HTRA2 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
BioGRID (302): DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), DNAJC11 (Proximity Label-MS), DNAJC11 (Proximity Label-MS), DNAJC11 (Affinity Capture-MS), ANXA7 (Affinity Capture-MS), CAPG (Affinity Capture-MS), H3F3A (Affinity Capture-MS)
ESM2 similar proteins: A1Z6L1, A4QTI8, A5DCL4, A7F1G7, A8NWS6, B0DK33, B6K463, B8P366, C4XVQ6, C5DG70, O13498, O13656, O13814, O96008, P04840, P23644, P24391, P40478, Q0JJV1, Q0TWV0, Q10S27, Q18090, Q1LZB5, Q21752, Q2H740, Q2NL21, Q39079, Q5RC70, Q5U458, Q61Z83, Q6CAG4, Q6L5I5, Q6P825, Q758T7, Q75Q40, Q7SBE0, Q7ZTM6, Q84P97, Q8J0L4, Q9FHQ9
Diamond homologs: A1JJD6, A1KR91, A1TLH8, A2SIR5, A4G8D1, A4XKA5, A5IIT4, A5UF67, A6LJ63, A6T225, A6T4F5, A7MWW1, A7ZHA5, A7ZVV8, A9LZV9, B1IRF9, B1LCI2, B1LFU5, B1Y787, B2U233, B4F2V6, B5Y241, B5YYA8, B6HZ11, B7L4D9, B7LVP7, B7M0B1, B7MAD6, B7MNM2, B7N7N9, B7NHB7, B7UI60, B9KAB9, O06431, O87778, P25685, P31689, P32527, P34454, P39102
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DNAJC11 | up-regulates | Mitochondrial_biogenesis |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 188 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cristae formation | 5 | 32.9× | 3e-04 |
| inner mitochondrial membrane organization | 5 | 26.3× | 5e-04 |
| mitochondrion organization | 8 | 7.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 1 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2735 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:6635701:C:CC | acceptor_gain | 1.0000 |
| 1:6636112:CTCA:C | donor_loss | 1.0000 |
| 1:6636114:CA:C | donor_loss | 1.0000 |
| 1:6636115:A:AC | donor_gain | 1.0000 |
| 1:6636115:AC:A | donor_loss | 1.0000 |
| 1:6636116:C:CA | donor_gain | 1.0000 |
| 1:6636116:CA:C | donor_gain | 1.0000 |
| 1:6636116:CACT:C | donor_gain | 1.0000 |
| 1:6636116:CACTG:C | donor_gain | 1.0000 |
| 1:6636242:CCAGC:C | acceptor_gain | 1.0000 |
| 1:6636243:CAGC:C | acceptor_gain | 1.0000 |
| 1:6636243:CAGCC:C | acceptor_gain | 1.0000 |
| 1:6636244:AGC:A | acceptor_gain | 1.0000 |
| 1:6636244:AGCCT:A | acceptor_loss | 1.0000 |
| 1:6636245:GC:G | acceptor_gain | 1.0000 |
| 1:6636246:CC:C | acceptor_gain | 1.0000 |
| 1:6636246:CCTG:C | acceptor_loss | 1.0000 |
| 1:6636247:C:CC | acceptor_gain | 1.0000 |
| 1:6637193:TGTA:T | donor_loss | 1.0000 |
| 1:6637194:GTACC:G | donor_loss | 1.0000 |
| 1:6637195:TACCT:T | donor_loss | 1.0000 |
| 1:6637197:CCTT:C | donor_loss | 1.0000 |
| 1:6637445:A:AC | donor_gain | 1.0000 |
| 1:6637446:C:CC | donor_gain | 1.0000 |
| 1:6637503:ACC:A | acceptor_loss | 1.0000 |
| 1:6637505:CTGC:C | acceptor_loss | 1.0000 |
| 1:6637506:T:A | acceptor_loss | 1.0000 |
| 1:6637509:C:CT | acceptor_gain | 1.0000 |
| 1:6637510:A:T | acceptor_gain | 1.0000 |
| 1:6638293:A:AC | donor_gain | 1.0000 |
AlphaMissense
3645 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:6636178:G:C | F531L | 1.000 |
| 1:6636178:G:T | F531L | 1.000 |
| 1:6636180:A:G | F531L | 1.000 |
| 1:6636197:A:G | L525P | 1.000 |
| 1:6636233:C:T | G513D | 1.000 |
| 1:6637220:A:G | L501P | 1.000 |
| 1:6637313:C:T | G470E | 1.000 |
| 1:6653919:A:G | S167P | 1.000 |
| 1:6680933:A:C | F59L | 1.000 |
| 1:6680933:A:T | F59L | 1.000 |
| 1:6680935:A:G | F59L | 1.000 |
| 1:6680982:G:T | P43Q | 1.000 |
| 1:6680984:A:C | H42Q | 1.000 |
| 1:6680984:A:T | H42Q | 1.000 |
| 1:6680986:G:C | H42D | 1.000 |
| 1:6680986:G:T | H42N | 1.000 |
| 1:6636125:G:T | P549Q | 0.999 |
| 1:6636126:G:A | P549S | 0.999 |
| 1:6636128:A:T | I548K | 0.999 |
| 1:6636165:G:C | H536D | 0.999 |
| 1:6636186:A:C | Y529D | 0.999 |
| 1:6636230:A:G | F514S | 0.999 |
| 1:6636234:C:G | G513R | 0.999 |
| 1:6637220:A:C | L501R | 0.999 |
| 1:6637220:A:T | L501H | 0.999 |
| 1:6637247:A:G | L492P | 0.999 |
| 1:6637313:C:A | G470V | 0.999 |
| 1:6637314:C:A | G470W | 0.999 |
| 1:6637314:C:G | G470R | 0.999 |
| 1:6637314:C:T | G470R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000031894 (1:6666638 G>A), RS1000045664 (1:6636929 G>A), RS1000160269 (1:6634153 G>A,C), RS1000195623 (1:6661033 C>T), RS1000222362 (1:6645694 G>A,C), RS1000281283 (1:6661131 C>T), RS1000344463 (1:6695832 A>G,T), RS1000366221 (1:6683877 T>C), RS1000367351 (1:6639247 C>G,T), RS1000378377 (1:6654830 T>A), RS1000430334 (1:6689801 G>T), RS1000432814 (1:6648704 A>G), RS1000457275 (1:6686719 C>T), RS1000467838 (1:6638162 C>T), RS1000469925 (1:6644496 A>C)
Disease associations
OMIM: gene MIM:614827 | 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 |
|---|---|---|
| GCST005790_74 | Rosacea symptom severity | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009180 | rosacea severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, decreases methylation | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| bisphenol S | increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Diclofenac | affects expression | 1 |
| Estradiol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Magnetite Nanoparticles | decreases methylation | 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.