HSPA4L
gene geneOn this page
Also known as APG-1Osp94HSPH3
Summary
HSPA4L (heat shock protein family A (Hsp70) member 4 like, HGNC:17041) is a protein-coding gene on chromosome 4q28.1, encoding Heat shock 70 kDa protein 4L (O95757). Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase.
The protein encoded by this gene is heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell against the harmful effects of aggregated proteins. This gene is highly expressed in leukemia cells and may be a good target for therapeutic intervention. Several transcripts encoding different isoforms have been found for this gene.
Source: NCBI Gene 22824 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 127 total
- Druggable target: yes
- MANE Select transcript:
NM_014278
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17041 |
| Approved symbol | HSPA4L |
| Name | heat shock protein family A (Hsp70) member 4 like |
| Location | 4q28.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | APG-1, Osp94, HSPH3 |
| Ensembl gene | ENSG00000164070 |
| Ensembl biotype | protein_coding |
| OMIM | 619077 |
| Entrez | 22824 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000296464, ENST00000505726, ENST00000508549, ENST00000508776, ENST00000515262, ENST00000883836
RefSeq mRNA: 4 — MANE Select: NM_014278
NM_001317381, NM_001317382, NM_001317383, NM_014278
CCDS: CCDS3734, CCDS82953
Canonical transcript exons
ENST00000296464 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001081079 | 127803629 | 127803873 |
| ENSE00001081080 | 127801138 | 127801237 |
| ENSE00001081081 | 127827305 | 127827424 |
| ENSE00001081082 | 127798587 | 127798709 |
| ENSE00001081084 | 127830638 | 127830799 |
| ENSE00001081085 | 127805073 | 127805224 |
| ENSE00001081086 | 127805687 | 127805793 |
| ENSE00001081089 | 127811437 | 127811636 |
| ENSE00001081091 | 127822769 | 127822894 |
| ENSE00001081093 | 127795768 | 127795908 |
| ENSE00001081095 | 127807996 | 127808129 |
| ENSE00001081097 | 127794077 | 127794134 |
| ENSE00001081099 | 127804011 | 127804087 |
| ENSE00001081101 | 127823517 | 127823624 |
| ENSE00001081103 | 127820428 | 127820565 |
| ENSE00001922654 | 127782322 | 127782657 |
| ENSE00001923629 | 127832683 | 127840733 |
| ENSE00002478089 | 127801785 | 127801918 |
| ENSE00003480767 | 127818325 | 127818420 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 99.63.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3183 / max 209.0510, expressed in 1394 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 49605 | 9.0920 | 1389 |
| 49606 | 0.1863 | 85 |
| 49603 | 0.0215 | 8 |
| 49604 | 0.0185 | 3 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.63 | gold quality |
| male germ cell | CL:0000015 | 97.31 | gold quality |
| left testis | UBERON:0004533 | 96.12 | gold quality |
| right testis | UBERON:0004534 | 96.00 | gold quality |
| testis | UBERON:0000473 | 93.61 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.65 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.71 | gold quality |
| secondary oocyte | CL:0000655 | 89.47 | gold quality |
| postcentral gyrus | UBERON:0002581 | 87.86 | gold quality |
| pons | UBERON:0000988 | 87.85 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.03 | gold quality |
| adult organism | UBERON:0007023 | 86.41 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 86.07 | gold quality |
| bronchial epithelial cell | CL:0002328 | 85.86 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.60 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 85.27 | gold quality |
| parietal lobe | UBERON:0001872 | 85.26 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 85.04 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.45 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 83.65 | gold quality |
| entorhinal cortex | UBERON:0002728 | 83.12 | gold quality |
| ventricular zone | UBERON:0003053 | 82.98 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.84 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.80 | gold quality |
| gingiva | UBERON:0001828 | 82.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 82.52 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 82.33 | gold quality |
| gingival epithelium | UBERON:0001949 | 82.27 | gold quality |
| occipital lobe | UBERON:0002021 | 82.27 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 3781.94 |
| E-HCAD-25 | yes | 9.58 |
| E-GEOD-93593 | yes | 6.89 |
| E-GEOD-124858 | no | 60.13 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
92 targeting HSPA4L, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
Literature-anchored findings (GeneRIF, showing 7)
- a novel autocrine pathway of CD1d regulation by Hsp110. (PMID:12952923)
- Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis. (PMID:21946539)
- Human molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm. (PMID:23509252)
- HSP40 and HSP110 function together in protein homeostasis control. (PMID:24091676)
- Findings indicate that miR-497 is a potent tumor suppressor that inhibits cancer phenotypes by targeting ANLN and HSPA4L in NPC. (PMID:26486082)
- decreased expression of HSPA4L in immature and asthenozoospermic spermatozoa was validated by western blot analysis. Functional analysis revealed a correlation between HSPA4L and sperm motility by Spearman correlation analysis and its involvement in sperm-oocyte penetration by the human sperm-hamster egg penetration test. (PMID:30637842)
- Apg-1 knockdown sensitized myeloma cells to bortezomib treatment, which may provide a new approach in multiple myeloma treatment. (PMID:31899217)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hspa4l | ENSDARG00000053544 |
| mus_musculus | Hspa4l | ENSMUSG00000025757 |
| rattus_norvegicus | Hspa4l | ENSRNOG00000010819 |
| drosophila_melanogaster | Hsp110 | FBGN0026418 |
| caenorhabditis_elegans | hsp-70 | WBGENE00002026 |
| caenorhabditis_elegans | WBGENE00009691 | |
| caenorhabditis_elegans | WBGENE00009692 | |
| caenorhabditis_elegans | WBGENE00016250 |
Paralogs (13): HSPA5 (ENSG00000044574), HSPA8 (ENSG00000109971), HSPA9 (ENSG00000113013), HSPH1 (ENSG00000120694), HSPA2 (ENSG00000126803), HYOU1 (ENSG00000149428), HSPA13 (ENSG00000155304), HSPA4 (ENSG00000170606), HSPA6 (ENSG00000173110), HSPA14 (ENSG00000187522), HSPA1B (ENSG00000204388), HSPA1A (ENSG00000204389), HSPA1L (ENSG00000204390)
Protein
Protein identifiers
Heat shock 70 kDa protein 4L — O95757 (reviewed: O95757)
Alternative names: Heat shock 70-related protein APG-1, Heat shock protein family H member 3, Heat-shock protein family A member 4-like protein, Osmotic stress protein 94
All UniProt accessions (4): A0A140VKE7, D6RJ96, E9PDE8, O95757
UniProt curated annotations — full annotation on UniProt →
Function. Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm. Nucleus.
Induction. By heat shock and osmotic imbalance.
Similarity. Belongs to the heat shock protein 70 family.
RefSeq proteins (4): NP_001304310, NP_001304311, NP_001304312, NP_055093* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013126 | Hsp_70_fam | Family |
| IPR018181 | Heat_shock_70_CS | Conserved_site |
| IPR029047 | HSP70_peptide-bd_sf | Homologous_superfamily |
| IPR029048 | HSP70_C_sf | Homologous_superfamily |
| IPR042708 | HSPA4L_NBD | Domain |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00012
UniProt features (15 total): modified residue 5, sequence variant 3, compositionally biased region 3, region of interest 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95757-F1 | 86.23 | 0.77 |
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 (5): 761, 74, 508, 545, 579
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3371453 | Regulation of HSF1-mediated heat shock response |
MSigDB gene sets: 219 (showing top):
LEE_NEURAL_CREST_STEM_CELL_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, BROWNE_HCMV_INFECTION_16HR_UP, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, MAHAJAN_RESPONSE_TO_IL1A_DN, GOBP_PROTEIN_MATURATION, CADWELL_ATG16L1_TARGETS_DN, KLEIN_PRIMARY_EFFUSION_LYMPHOMA_UP, GOBP_PROTEIN_FOLDING, NEMETH_INFLAMMATORY_RESPONSE_LPS_DN, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN
GO Biological Process (2): protein folding (GO:0006457), response to unfolded protein (GO:0006986)
GO Molecular Function (4): adenyl-nucleotide exchange factor activity (GO:0000774), ATP binding (GO:0005524), ATP-dependent protein folding chaperone (GO:0140662), nucleotide binding (GO:0000166)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cellular response to heat stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| response to topologically incorrect protein | 1 |
| ATP binding | 1 |
| ADP binding | 1 |
| ATPase regulator activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| protein folding chaperone | 1 |
| ATP-dependent activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
3822 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HSPA4L | HSP90AA1 | P07900 | 687 |
| HSPA4L | HSP90AB1 | P08238 | 676 |
| HSPA4L | HSPA12A | O43301 | 632 |
| HSPA4L | DNAJA1 | P31689 | 596 |
| HSPA4L | HSPE1 | P61604 | 574 |
| HSPA4L | HSPA12B | Q96MM6 | 546 |
| HSPA4L | DNAJB1 | P25685 | 532 |
| HSPA4L | HSP90B1 | P14625 | 530 |
| HSPA4L | DNAJA4 | Q8WW22 | 495 |
| HSPA4L | DNAJA2 | O60884 | 494 |
| HSPA4L | DNAJB4 | Q9UDY4 | 488 |
| HSPA4L | HSPA5 | P11021 | 450 |
| HSPA4L | HSPB2 | Q16082 | 447 |
| HSPA4L | PRPF31 | Q8WWY3 | 444 |
| HSPA4L | SUSD1 | Q6UWL2 | 439 |
IntAct
154 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TTC1 | VAPB | psi-mi:“MI:0914”(association) | 0.790 |
| YAP1 | MPDZ | psi-mi:“MI:0914”(association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| HSF1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| N | HNRNPDL | psi-mi:“MI:0914”(association) | 0.530 |
| CREB1 | HSPA4L | psi-mi:“MI:0914”(association) | 0.530 |
| P/V | IRS4 | psi-mi:“MI:0914”(association) | 0.530 |
| P/V | HSPA4L | psi-mi:“MI:0914”(association) | 0.530 |
| STUB1 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPA8 | ARHGEF10 | psi-mi:“MI:2364”(proximity) | 0.480 |
| SCLT1 | CCDC22 | psi-mi:“MI:0914”(association) | 0.420 |
| HNF1A | HSPA4L | psi-mi:“MI:0914”(association) | 0.420 |
| AATK | NDUFA4 | psi-mi:“MI:0914”(association) | 0.420 |
| TNFAIP3 | LRRIQ3 | psi-mi:“MI:0914”(association) | 0.420 |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| Magoh | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA5 | NCOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| SF1 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (347): HSPA4L (Affinity Capture-MS), HSPA4L (Affinity Capture-MS), HSPA4L (Affinity Capture-MS), DNAJA1 (Co-fractionation), DNAJA2 (Co-fractionation), DNAJA4 (Co-fractionation), DNAJB1 (Co-fractionation), DNAJC10 (Co-fractionation), DNAJC9 (Co-fractionation), HINT1 (Co-fractionation), HSPA4L (Co-fractionation), HSPA4L (Co-fractionation), HSPA4L (Co-fractionation), HSPA4L (Co-fractionation), HSPA4L (Co-fractionation)
ESM2 similar proteins: A2X6S3, A2YR10, A4FUX8, O88600, O94805, O95757, O96019, P30172, P32390, P34932, P42528, P47117, P48722, P53458, P53490, P78712, P81228, P81229, P86173, P93372, P93374, P93375, Q0IEG8, Q0IIM3, Q2TFN9, Q4R333, Q5R606, Q5R8R4, Q5RDM4, Q60446, Q61316, Q61699, Q61WW9, Q66HA8, Q69YN2, Q6K908, Q6ZJW9, Q84M92, Q92598, Q96482
Diamond homologs: A2Q0Z1, A5A8V7, F4HQD4, O59838, O59855, O65719, O73885, O74225, O88600, O93866, O95757, O97125, P02827, P08108, P09435, P09446, P0CB32, P0DMV8, P0DMV9, P0DMW0, P0DMW1, P10591, P10592, P11142, P16019, P17879, P18694, P19120, P19378, P22202, P22953, P24629, P26413, P27322, P27541, P29357, P32589, P32590, P34930, P34931
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 191 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 |
|---|---|---|---|
| Ovarian tumor domain proteases | 6 | 11.8× | 3e-03 |
| Selective autophagy | 5 | 9.9× | 8e-03 |
| SLC transporter disorders | 6 | 8.7× | 5e-03 |
| R-HSA-425393 | 9 | 8.3× | 6e-04 |
| Disorders of transmembrane transporters | 7 | 6.9× | 5e-03 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 9 | 6.2× | 3e-03 |
| Clathrin-mediated endocytosis | 8 | 4.8× | 1e-02 |
| PIP3 activates AKT signaling | 10 | 4.7× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of cellular response to heat | 5 | 31.2× | 3e-04 |
| cellular response to nerve growth factor stimulus | 5 | 13.8× | 5e-03 |
| cellular response to heat | 6 | 12.2× | 2e-03 |
| positive regulation of epithelial cell proliferation | 6 | 8.7× | 8e-03 |
| cell surface receptor protein tyrosine kinase signaling pathway | 8 | 8.2× | 2e-03 |
| protein autophosphorylation | 9 | 7.7× | 1e-03 |
| monoatomic ion transport | 8 | 7.4× | 3e-03 |
| MAPK cascade | 8 | 7.2× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 8 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2775 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:127782658:G:GG | donor_gain | 1.0000 |
| 4:127794069:T:A | acceptor_gain | 1.0000 |
| 4:127794131:CCAGG:C | donor_loss | 1.0000 |
| 4:127794132:CAG:C | donor_loss | 1.0000 |
| 4:127794133:AGGTA:A | donor_loss | 1.0000 |
| 4:127794134:GGTAA:G | donor_loss | 1.0000 |
| 4:127794135:GT:G | donor_loss | 1.0000 |
| 4:127794136:T:G | donor_loss | 1.0000 |
| 4:127795767:GATA:G | acceptor_gain | 1.0000 |
| 4:127795904:TTAAG:T | donor_loss | 1.0000 |
| 4:127795905:TAAG:T | donor_loss | 1.0000 |
| 4:127795906:AAG:A | donor_loss | 1.0000 |
| 4:127795907:AGGTA:A | donor_loss | 1.0000 |
| 4:127795909:G:GC | donor_loss | 1.0000 |
| 4:127795910:T:A | donor_loss | 1.0000 |
| 4:127798582:GTTA:G | acceptor_loss | 1.0000 |
| 4:127798583:TTAG:T | acceptor_loss | 1.0000 |
| 4:127798584:TAGGT:T | acceptor_loss | 1.0000 |
| 4:127798585:A:T | acceptor_loss | 1.0000 |
| 4:127798705:TTTCA:T | donor_gain | 1.0000 |
| 4:127798706:TTCA:T | donor_gain | 1.0000 |
| 4:127798706:TTCAG:T | donor_loss | 1.0000 |
| 4:127798707:TCA:T | donor_gain | 1.0000 |
| 4:127798708:CA:C | donor_gain | 1.0000 |
| 4:127798708:CAGTA:C | donor_loss | 1.0000 |
| 4:127798709:AGTAA:A | donor_loss | 1.0000 |
| 4:127798710:G:GG | donor_gain | 1.0000 |
| 4:127798710:GTAAG:G | donor_loss | 1.0000 |
| 4:127798711:TAAGT:T | donor_loss | 1.0000 |
| 4:127801136:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
5604 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:127782634:T:A | N28K | 1.000 |
| 4:127782634:T:G | N28K | 1.000 |
| 4:127794114:G:A | G49R | 1.000 |
| 4:127794114:G:C | G49R | 1.000 |
| 4:127794115:G:A | G49E | 1.000 |
| 4:127803855:T:A | V297D | 1.000 |
| 4:127805689:T:G | C380W | 1.000 |
| 4:127811497:T:A | V480D | 1.000 |
| 4:127822827:T:A | V624D | 1.000 |
| 4:127822831:A:C | E625D | 1.000 |
| 4:127822831:A:T | E625D | 1.000 |
| 4:127823563:T:C | L662P | 1.000 |
| 4:127782563:G:C | G5R | 0.999 |
| 4:127782564:G:A | G5D | 0.999 |
| 4:127782596:G:C | A16P | 0.999 |
| 4:127782597:C:A | A16D | 0.999 |
| 4:127782603:C:A | A18E | 0.999 |
| 4:127782633:A:T | N28I | 0.999 |
| 4:127782641:A:C | S31R | 0.999 |
| 4:127782643:C:A | S31R | 0.999 |
| 4:127782643:C:G | S31R | 0.999 |
| 4:127782648:G:T | R33M | 0.999 |
| 4:127794085:T:A | I39K | 0.999 |
| 4:127794087:T:C | S40P | 0.999 |
| 4:127794115:G:T | G49V | 0.999 |
| 4:127794124:C:A | A52E | 0.999 |
| 4:127798642:T:C | L121P | 0.999 |
| 4:127801183:G:C | A159P | 0.999 |
| 4:127801791:T:C | L179P | 0.999 |
| 4:127801799:G:A | G182R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000037720 (4:127826736 C>T), RS1000200544 (4:127824245 G>A,T), RS1000229392 (4:127819634 T>C), RS1000260547 (4:127819265 G>A), RS1000380896 (4:127784827 C>T), RS1000381733 (4:127831564 TA>T), RS1000390821 (4:127838576 T>C), RS1000406339 (4:127804651 A>G,T), RS1000470628 (4:127812628 C>T), RS1000489175 (4:127796512 ACATGAATGTT>A), RS1000557403 (4:127826388 C>A,T), RS1000589520 (4:127802017 A>G), RS1000591649 (4:127821114 T>C), RS1000631395 (4:127824579 T>C,G), RS1000734506 (4:127806555 C>A,G)
Disease associations
OMIM: gene MIM:619077 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005231_28 | Major depressive disorder | 5.000000e-06 |
| GCST90002386_4 | High light scatter reticulocyte percentage of red cells | 1.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465282 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
83 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| Benzo(a)pyrene | increases expression | 5 |
| Aflatoxin B1 | affects expression, affects cotreatment, increases expression | 5 |
| sodium arsenite | affects cotreatment, increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Acetaminophen | increases expression | 3 |
| Tobacco Smoke Pollution | increases expression, affects expression | 3 |
| Tretinoin | increases expression, decreases expression | 3 |
| Cyclosporine | affects expression, decreases expression, increases expression | 3 |
| potassium chromate(VI) | affects cotreatment, decreases expression, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Ethanol | affects cotreatment, increases expression | 2 |
| Cadmium | increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silver | increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| Particulate Matter | increases reaction, decreases expression, increases abundance, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | affects cotreatment, increases expression | 1 |
| methylselenic acid | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| Nonidet P-40 | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5338469 | Binding | Binding affinity to Hspa4l (unknown origin) assessed as fold change in protein upregulation at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis | Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod |
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.