DNAJA4
geneOn this page
Also known as PRO1472
Summary
DNAJA4 (DnaJ heat shock protein family (Hsp40) member A4, HGNC:14885) is a protein-coding gene on chromosome 15q25.1, encoding DnaJ homolog subfamily A member 4 (Q8WW22).
Enables protein-folding chaperone binding activity and unfolded protein binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of inclusion body assembly; and protein refolding. Located in cytosol and membrane.
Source: NCBI Gene 55466 — RefSeq curated summary.
At a glance
- GWAS associations: 23
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_001130182
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14885 |
| Approved symbol | DNAJA4 |
| Name | DnaJ heat shock protein family (Hsp40) member A4 |
| Location | 15q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PRO1472 |
| Ensembl gene | ENSG00000140403 |
| Ensembl biotype | protein_coding |
| Entrez | 55466 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron
ENST00000343789, ENST00000394852, ENST00000394855, ENST00000423642, ENST00000440911, ENST00000446172, ENST00000480425, ENST00000483802, ENST00000485075, ENST00000489435, ENST00000493321, ENST00000542636, ENST00000852615, ENST00000852616, ENST00000959631, ENST00000959632, ENST00000959633, ENST00000959634, ENST00000959635
RefSeq mRNA: 8 — MANE Select: NM_001130182
NM_001130182, NM_001130183, NM_001387384, NM_001387385, NM_001387386, NM_001387387, NM_001387388, NM_018602
CCDS: CCDS10299, CCDS45316, CCDS45317
Canonical transcript exons
ENST00000394852 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001519799 | 78280245 | 78282191 |
| ENSE00001519801 | 78264562 | 78264895 |
| ENSE00003505477 | 78274197 | 78274424 |
| ENSE00003543339 | 78273095 | 78273199 |
| ENSE00003572749 | 78280045 | 78280145 |
| ENSE00003573978 | 78270497 | 78270677 |
| ENSE00003639640 | 78275498 | 78275728 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 99.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.2109 / max 3694.4783, expressed in 1163 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147893 | 19.3595 | 1116 |
| 147890 | 1.2392 | 175 |
| 147894 | 0.8526 | 306 |
| 147892 | 0.3208 | 61 |
| 147897 | 0.2216 | 11 |
| 147891 | 0.1473 | 41 |
| 147896 | 0.0699 | 38 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 99.41 | gold quality |
| right testis | UBERON:0004534 | 98.36 | gold quality |
| left testis | UBERON:0004533 | 98.34 | gold quality |
| sperm | CL:0000019 | 97.85 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.69 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.23 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.14 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.01 | gold quality |
| biceps brachii | UBERON:0001507 | 96.92 | gold quality |
| body of tongue | UBERON:0011876 | 96.82 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.73 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.68 | gold quality |
| right uterine tube | UBERON:0001302 | 96.66 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.66 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.64 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.60 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.58 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.48 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.48 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.44 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.27 | gold quality |
| male germ cell | CL:0000015 | 96.25 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.22 | gold quality |
| testis | UBERON:0000473 | 96.17 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.99 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.96 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.88 | gold quality |
| amygdala | UBERON:0001876 | 95.80 | gold quality |
| pons | UBERON:0000988 | 95.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-109979 | no | 87.54 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| APOE | Activation |
miRNA regulators (miRDB)
67 targeting DNAJA4, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
Literature-anchored findings (GeneRIF, showing 5)
- Hyperthermia reduced HaCaT cell proliferation and promoted cytokine expressions responsible for anti-viral activity, mainly through a NF-kB dependent pathway. DNAJA4-deficiency enhanced the activation of NF-kB by hyperthermia in HaCaT cells. (PMID:29807809)
- DnaJA4 is involved in responses to hyperthermia by regulating the expression of F-actin in HaCaT cells. (PMID:32925288)
- DNA methylation status of DNAJA4 is essential for human erythropoiesis. (PMID:36420716)
- DNAJA4 Promotes the Replication of the Chinese Giant Salamander Iridovirus. (PMID:36672799)
- DNAJA4 suppresses epithelial-mesenchymal transition and metastasis in nasopharyngeal carcinoma via PSMD2-mediated MYH9 degradation. (PMID:37875476)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dnaja | ENSDARG00000051762 |
| mus_musculus | Dnaja4 | ENSMUSG00000032285 |
| rattus_norvegicus | Dnaja4 | ENSRNOG00000012106 |
Paralogs (3): DNAJA2 (ENSG00000069345), DNAJA1 (ENSG00000086061), DNAJA3 (ENSG00000103423)
Protein
Protein identifiers
DnaJ homolog subfamily A member 4 — Q8WW22 (reviewed: Q8WW22)
All UniProt accessions (6): Q8WW22, C9JDE6, F5GWV1, F5H170, F5H300, F8WF76
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WW22-1 | 1 | yes |
| Q8WW22-2 | 2 | |
| Q8WW22-3 | 3 |
RefSeq proteins (8): NP_001123654, NP_001123655, NP_001374313, NP_001374314, NP_001374315, NP_001374316, NP_001374317, NP_061072 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001305 | HSP_DnaJ_Cys-rich_dom | Domain |
| IPR001623 | DnaJ_domain | Domain |
| IPR002939 | DnaJ_C | Domain |
| IPR008971 | HSP40/DnaJ_pept-bd | Homologous_superfamily |
| IPR012724 | DnaJ | Family |
| IPR018253 | DnaJ_domain_CS | Conserved_site |
| IPR036410 | HSP_DnaJ_Cys-rich_dom_sf | Homologous_superfamily |
| IPR036869 | J_dom_sf | Homologous_superfamily |
| IPR044713 | DNJA1/2-like | Family |
Pfam: PF00226, PF00684, PF01556
UniProt features (24 total): binding site 8, repeat 4, modified residue 2, splice variant 2, sequence conflict 2, chain 1, propeptide 1, lipid moiety-binding region 1, domain 1, sequence variant 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WW22-F1 | 84.76 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 151; 154; 178; 181; 194; 197; 135; 138
Post-translational modifications (3): 18, 394, 394
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3371497 | HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand |
MSigDB gene sets: 211 (showing top):
PEREZ_TP63_TARGETS, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_PROTEIN_MATURATION, CADWELL_ATG16L1_TARGETS_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, LIAO_METASTASIS, GOBP_REGULATION_OF_INCLUSION_BODY_ASSEMBLY, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_PROTEIN_FOLDING, GOBP_CELLULAR_RESPONSE_TO_HEAT
GO Biological Process (6): response to heat (GO:0009408), negative regulation of endothelial cell migration (GO:0010596), positive regulation of gene expression (GO:0010628), protein refolding (GO:0042026), negative regulation of inclusion body assembly (GO:0090084), protein folding (GO:0006457)
GO Molecular Function (8): ATP binding (GO:0005524), zinc ion binding (GO:0008270), Hsp70 protein binding (GO:0030544), obsolete unfolded protein binding (GO:0051082), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515), heat shock protein binding (GO:0031072), metal ion binding (GO:0046872)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cellular responses to stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein binding | 2 |
| response to stress | 1 |
| response to temperature stimulus | 1 |
| regulation of endothelial cell migration | 1 |
| negative regulation of cell migration | 1 |
| endothelial cell migration | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| protein folding | 1 |
| negative regulation of cellular component organization | 1 |
| inclusion body assembly | 1 |
| regulation of inclusion body assembly | 1 |
| cellular process | 1 |
| protein maturation | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| transition metal ion binding | 1 |
| heat shock protein binding | 1 |
| protein-folding chaperone binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
3007 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DNAJA4 | DNAJC6 | O75061 | 638 |
| DNAJA4 | HSPA4 | P34932 | 513 |
| DNAJA4 | LRP8 | Q14114 | 512 |
| DNAJA4 | HSPA6 | P17066 | 502 |
| DNAJA4 | HSPA5 | P11021 | 496 |
| DNAJA4 | HSPA4L | O95757 | 495 |
| DNAJA4 | HSPH1 | Q92598 | 495 |
| DNAJA4 | HSPA1A | P08107 | 487 |
| DNAJA4 | DNAJB4 | Q9UDY4 | 478 |
| DNAJA4 | HSPA8 | P11142 | 477 |
| DNAJA4 | HSP90B1 | P14625 | 460 |
| DNAJA4 | INHBA | P08476 | 450 |
| DNAJA4 | HSP90AA1 | P07900 | 442 |
| DNAJA4 | KIF20A | O95235 | 439 |
| DNAJA4 | BAG3 | O95817 | 434 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAJA4 | DNAJA2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| DNAJA4 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.710 |
| TSPYL6 | USP12 | psi-mi:“MI:0914”(association) | 0.640 |
| L3MBTL1 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.530 |
| MYORG | HSPA5 | psi-mi:“MI:0914”(association) | 0.530 |
| HPSE | OS9 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJA1 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJA4 | ENDOG | psi-mi:“MI:0915”(physical association) | 0.500 |
| Tubb5 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| ACOX3 | DNAJA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AICDA | DNAJA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DNAJA4 | CALU | psi-mi:“MI:0915”(physical association) | 0.400 |
| DNAJA4 | DNAJA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AARSD1 | DNAJA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SGTB | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNCRIP | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| BAG6 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SORT1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TCTN2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PSCA | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR45 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBB | psi-mi:“MI:0914”(association) | 0.350 | |
| DNAJA2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (110): DNAJA4 (Two-hybrid), DNAJA4 (Affinity Capture-Western), DNAJA4 (Affinity Capture-Western), DNAJA4 (Affinity Capture-MS), CCT2 (Co-fractionation), CCT3 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJA4 (Co-fractionation)
ESM2 similar proteins: A6QBG7, B9FHF3, O35824, O60884, O74752, O75953, O89114, O94625, O94657, P25294, P25303, P25491, P25685, P42824, P42825, P43644, P59910, P78004, P81999, Q03363, Q04960, Q09912, Q0JB88, Q24133, Q2HJ94, Q2KIT4, Q3AQP5, Q3MI00, Q3ZBA6, Q54ED3, Q5BIP8, Q5R8J8, Q5RAJ6, Q626I7, Q6MNG0, Q6TUG0, Q8A8C3, Q8GWW8, Q8MPX3, Q8TA83
Diamond homologs: A0LJ41, A1KR91, A3DF24, A4XKA5, A5EYE5, A5ITA7, A6LRN5, A6Q486, A6QHC2, A6U251, A6UEY1, A7X2Y0, A8Z4B8, A9IGC5, A9KG87, A9LZV9, A9N8H1, B0SHT0, B0SRF0, B2IBR5, B2TLZ8, B2V2I6, B3CP03, B6IZJ1, B6J7U6, B8I304, B9FHF3, B9JZ89, B9MJZ0, C0R562, C3MC05, O27352, O35824, O60884, O66921, O74752, O75953, O89114, P25491, P31689
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 61 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1279 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:78264881:GA:G | donor_gain | 1.0000 |
| 15:78264887:G:GT | donor_gain | 1.0000 |
| 15:78264892:GAAG:G | donor_gain | 1.0000 |
| 15:78264894:AGGT:A | donor_loss | 1.0000 |
| 15:78264897:T:A | donor_loss | 1.0000 |
| 15:78265536:TGAC:T | donor_gain | 1.0000 |
| 15:78265559:A:AG | donor_gain | 1.0000 |
| 15:78270494:A:G | acceptor_gain | 1.0000 |
| 15:78270495:A:G | acceptor_gain | 1.0000 |
| 15:78270496:GTTTA:G | acceptor_gain | 1.0000 |
| 15:78273093:A:G | acceptor_gain | 1.0000 |
| 15:78273197:AAG:A | donor_gain | 1.0000 |
| 15:78274196:GGT:G | acceptor_gain | 1.0000 |
| 15:78280044:GGT:G | acceptor_gain | 1.0000 |
| 15:78280141:TTTTA:T | donor_gain | 1.0000 |
| 15:78280142:TTTA:T | donor_gain | 1.0000 |
| 15:78280146:G:GG | donor_gain | 1.0000 |
| 15:78280235:C:G | acceptor_gain | 1.0000 |
| 15:78280243:A:AC | acceptor_loss | 1.0000 |
| 15:78280244:G:GC | acceptor_loss | 1.0000 |
| 15:78264844:G:GT | donor_gain | 0.9900 |
| 15:78264859:G:GG | donor_gain | 0.9900 |
| 15:78264882:A:G | donor_gain | 0.9900 |
| 15:78264889:C:T | donor_gain | 0.9900 |
| 15:78265537:GACA:G | donor_gain | 0.9900 |
| 15:78265538:ACAA:A | donor_gain | 0.9900 |
| 15:78265555:GATCA:G | donor_gain | 0.9900 |
| 15:78265559:A:G | donor_gain | 0.9900 |
| 15:78270493:A:AG | acceptor_gain | 0.9900 |
| 15:78270493:AAAGT:A | acceptor_loss | 0.9900 |
AlphaMissense
2638 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:78264843:G:C | R27P | 1.000 |
| 15:78264863:C:A | H34N | 1.000 |
| 15:78264863:C:G | H34D | 1.000 |
| 15:78264865:C:A | H34Q | 1.000 |
| 15:78264865:C:G | H34Q | 1.000 |
| 15:78270497:T:C | F45L | 1.000 |
| 15:78270499:T:A | F45L | 1.000 |
| 15:78270499:T:G | F45L | 1.000 |
| 15:78264839:T:G | Y26D | 0.999 |
| 15:78264852:C:A | A30E | 0.999 |
| 15:78264864:A:G | H34R | 0.999 |
| 15:78270498:T:C | F45S | 0.999 |
| 15:78270498:T:G | F45C | 0.999 |
| 15:78270507:T:A | I48K | 0.999 |
| 15:78270509:T:C | S49P | 0.999 |
| 15:78270515:G:C | A51P | 0.999 |
| 15:78270528:T:A | L55H | 0.999 |
| 15:78270528:T:C | L55P | 0.999 |
| 15:78274229:T:C | C151R | 0.999 |
| 15:78274238:T:A | C154S | 0.999 |
| 15:78274238:T:C | C154R | 0.999 |
| 15:78274239:G:C | C154S | 0.999 |
| 15:78274310:T:C | C178R | 0.999 |
| 15:78274312:C:G | C178W | 0.999 |
| 15:78274319:T:A | C181S | 0.999 |
| 15:78274320:G:C | C181S | 0.999 |
| 15:78264832:G:C | K23N | 0.998 |
| 15:78264832:G:T | K23N | 0.998 |
| 15:78264855:T:C | L31P | 0.998 |
| 15:78264866:C:T | P35S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000192761 (15:78267104 G>C), RS1000267205 (15:78277312 C>T), RS1000306479 (15:78263291 A>T), RS1000394290 (15:78277843 C>T), RS1000642448 (15:78264378 C>T), RS1000684440 (15:78265881 G>A), RS1000909588 (15:78271998 A>G,T), RS1000996282 (15:78274110 G>T), RS1001593403 (15:78264194 C>G,T), RS1001785513 (15:78281942 T>C), RS1001816916 (15:78276815 G>T), RS1001947651 (15:78277072 T>A,C), RS1001972965 (15:78264960 T>C,G), RS1002009049 (15:78264942 G>A,T), RS1002042009 (15:78265198 C>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
23 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003476_6 | Eyebrow thickness | 1.000000e-06 |
| GCST004619_145 | Reticulocyte fraction of red cells | 3.000000e-15 |
| GCST004621_79 | Red cell distribution width | 9.000000e-54 |
| GCST004622_133 | Reticulocyte count | 9.000000e-20 |
| GCST005576_24 | Intracranial aneurysm | 5.000000e-06 |
| GCST006804_49 | Red cell distribution width | 3.000000e-13 |
| GCST006804_77 | Red cell distribution width | 6.000000e-38 |
| GCST010083_49 | Hemoglobin levels | 1.000000e-14 |
| GCST012020_458 | Serum metabolite levels | 8.000000e-28 |
| GCST012020_459 | Serum metabolite levels | 2.000000e-16 |
| GCST90002383_235 | Hematocrit | 4.000000e-10 |
| GCST90002385_60 | High light scatter reticulocyte count | 6.000000e-20 |
| GCST90002386_600 | High light scatter reticulocyte percentage of red cells | 1.000000e-22 |
| GCST90002392_435 | Mean corpuscular volume | 2.000000e-12 |
| GCST90002397_265 | Mean spheric corpuscular volume | 3.000000e-26 |
| GCST90002400_163 | Plateletcrit | 5.000000e-15 |
| GCST90002402_168 | Platelet count | 3.000000e-12 |
| GCST90002404_370 | Red cell distribution width | 9.000000e-57 |
| GCST90002404_371 | Red cell distribution width | 2.000000e-37 |
| GCST90002405_342 | Reticulocyte count | 4.000000e-20 |
| GCST90002405_343 | Reticulocyte count | 1.000000e-20 |
| GCST90002406_391 | Reticulocyte fraction of red cells | 5.000000e-24 |
| GCST90002406_392 | Reticulocyte fraction of red cells | 6.000000e-17 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0009188 | Red cell distribution width |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004348 | hematocrit |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium | increases abundance, increases expression | 4 |
| Copper | decreases expression, increases expression, affects binding | 3 |
| Tobacco Smoke Pollution | affects expression, increases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Silicon Dioxide | increases expression | 2 |
| Valproic Acid | affects expression, increases expression, increases methylation | 2 |
| Particulate Matter | increases expression, affects expression, increases reaction, increases abundance | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine | affects expression, increases reaction | 1 |
| dimethylarsinous acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| licochalcone B | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Decitabine | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm