STEAP2
gene geneOn this page
Also known as IPCA-1STAMP1STMP
Summary
STEAP2 (STEAP2 metalloreductase, HGNC:17885) is a protein-coding gene on chromosome 7q21.13, encoding Metalloreductase STEAP2 (Q8NFT2). Integral membrane protein that functions as a NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane.
This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Source: NCBI Gene 261729 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 79 total
- MANE Select transcript:
NM_001244944
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17885 |
| Approved symbol | STEAP2 |
| Name | STEAP2 metalloreductase |
| Location | 7q21.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IPCA-1, STAMP1, STMP |
| Ensembl gene | ENSG00000157214 |
| Ensembl biotype | protein_coding |
| OMIM | 605094 |
| Entrez | 261729 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 20 protein_coding, 1 retained_intron
ENST00000287908, ENST00000394621, ENST00000394622, ENST00000394626, ENST00000394629, ENST00000394632, ENST00000402625, ENST00000426158, ENST00000428074, ENST00000482369, ENST00000880619, ENST00000880620, ENST00000880621, ENST00000880622, ENST00000930432, ENST00000930433, ENST00000930434, ENST00000966513, ENST00000966514, ENST00000966515, ENST00000966516
RefSeq mRNA: 6 — MANE Select: NM_001244944
NM_001040665, NM_001040666, NM_001244944, NM_001244945, NM_001244946, NM_152999
CCDS: CCDS43612, CCDS5615, CCDS59064
Canonical transcript exons
ENST00000394621 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001519014 | 90232337 | 90237683 |
| ENSE00001519046 | 90216491 | 90216603 |
| ENSE00003616543 | 90225050 | 90225574 |
| ENSE00003850595 | 90211740 | 90212045 |
| ENSE00003892100 | 90229872 | 90230036 |
| ENSE00003893966 | 90226971 | 90227498 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 97.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.4655 / max 203.1695, expressed in 1122 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79439 | 4.5637 | 941 |
| 79437 | 4.4186 | 897 |
| 79438 | 0.2878 | 157 |
| 79436 | 0.1808 | 82 |
| 79435 | 0.0146 | 1 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pericardium | UBERON:0002407 | 97.45 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.75 | gold quality |
| prostate gland | UBERON:0002367 | 95.80 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.77 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.05 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.86 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.44 | gold quality |
| kidney epithelium | UBERON:0004819 | 92.04 | silver quality |
| cerebellar vermis | UBERON:0004720 | 90.37 | gold quality |
| tendon | UBERON:0000043 | 89.91 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.75 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.14 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.06 | gold quality |
| parietal lobe | UBERON:0001872 | 88.89 | gold quality |
| synovial joint | UBERON:0002217 | 88.08 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 87.33 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.13 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 86.85 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 86.79 | gold quality |
| occipital lobe | UBERON:0002021 | 86.76 | gold quality |
| oviduct epithelium | UBERON:0004804 | 86.48 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.04 | gold quality |
| pituitary gland | UBERON:0000007 | 85.86 | gold quality |
| saphenous vein | UBERON:0007318 | 85.76 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.70 | gold quality |
| vena cava | UBERON:0004087 | 85.66 | silver quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 85.66 | gold quality |
| ileal mucosa | UBERON:0000331 | 85.03 | gold quality |
| entorhinal cortex | UBERON:0002728 | 85.02 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.93 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | no | 229.85 |
| E-MTAB-7303 | no | 81.57 |
| E-GEOD-36552 | no | 34.76 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
302 targeting STEAP2, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
Literature-anchored findings (GeneRIF, showing 16)
- cloning and characterization of STAMP1, which is expressed in both normal prostate and prostate neoplasms (PMID:12095985)
- STEAP2 is involved in the development of prostate cancer. As a cell-surface antigen, it is a potential diagnostic or therapeutic target in prostate cancer. (PMID:12429817)
- Expression of STAMP2, a gene highly similar to STAMP1 (STEAP2), in prostate cancer cells significantly increases cell growth and colony formation suggesting that STAMP2 may have a role in cell proliferation. (PMID:15897894)
- The murine ortholog, Steap2, is a ferrireductase, cupric reductase, and stimulates cellular uptake of both iron and copper in vitro. (PMID:16609065)
- STEAPs may represent novel markers of mesenchymal stem cells in man as well as mice. (PMID:19196137)
- Data suggest that STAMP1 is required for prostate cancer growth. (PMID:20587517)
- Over-expression of STEAP2 is associated with prostate cancer progression. (PMID:25248617)
- STEAP2 drives aggressive prostate cancer traits by promoting proliferation, migration and invasion and significantly influencing the transcriptional profile of ten genes underlying the metastatic cascade. (PMID:29674723)
- The conformational modulation of STEAP2 by the local membrane cholesterol content can therefore serve as a potential mechanism to modulate STEAP2 function in a compartment-restricted manner (PMID:29940176)
- STEAP2 is down-regulated in breast cancer tissue and suppresses PI3K/AKT signaling and breast cancer cell invasion in vitro and in vivo. (PMID:31696760)
- The Tumor Suppressive Roles and Prognostic Values of STEAP Family Members in Breast Cancer. (PMID:32802887)
- Predictive potential of STEAP family for survival, immune microenvironment and therapy response in glioma. (PMID:34649092)
- METTL3-mediated m6A modification of STEAP2 mRNA inhibits papillary thyroid cancer progress by blocking the Hedgehog signaling pathway and epithelial-to-mesenchymal transition. (PMID:35436987)
- STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2. (PMID:36316642)
- STEAP2 promotes hepatocellular carcinoma progression via increased copper levels and stress-activated MAP kinase activity. (PMID:38830975)
- Unveiling the role of copper metabolism and STEAP2 in idiopathic pulmonary fibrosis molecular landscape. (PMID:38872435)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | steap2 | ENSDARG00000062887 |
| mus_musculus | Steap2 | ENSMUSG00000015653 |
| rattus_norvegicus | Steap2 | ENSRNOG00000006076 |
Paralogs (4): STEAP1B (ENSG00000105889), STEAP3 (ENSG00000115107), STEAP4 (ENSG00000127954), STEAP1 (ENSG00000164647)
Protein
Protein identifiers
Metalloreductase STEAP2 — Q8NFT2 (reviewed: Q8NFT2)
Alternative names: Prostate cancer-associated protein 1, Protein up-regulated in metastatic prostate cancer, Six-transmembrane epithelial antigen of prostate 2, SixTransMembrane protein of prostate 1
All UniProt accessions (5): Q8NFT2, B5MC02, C9JHX5, C9JLP2, Q6YPB2
UniProt curated annotations — full annotation on UniProt →
Function. Integral membrane protein that functions as a NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane. Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate. Can also reduce Cu(2+) to Cu(1+).
Subcellular location. Endosome membrane. Cell membrane.
Tissue specificity. Expressed at high levels in prostate and at significantly lower levels in heart, brain, kidney, pancreas, and ovary.
Similarity. Belongs to the STEAP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NFT2-1 | 1 | yes |
| Q8NFT2-2 | 2 | |
| Q8NFT2-3 | 3 |
RefSeq proteins (6): NP_001035755, NP_001035756, NP_001231873, NP_001231874, NP_001231875, NP_694544 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013130 | Fe3_Rdtase_TM_dom | Domain |
| IPR028939 | P5C_Rdtase_cat_N | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR051267 | STEAP_metalloreductase | Family |
Pfam: PF01794, PF03807
Catalyzed reactions (Rhea), 2 shown:
- 2 Fe(2+) + NADP(+) + H(+) = 2 Fe(3+) + NADPH (RHEA:71767)
- 2 Cu(+) + NADP(+) + H(+) = 2 Cu(2+) + NADPH (RHEA:71771)
UniProt features (71 total): helix 20, binding site 15, strand 11, turn 7, transmembrane region 6, sequence variant 5, splice variant 2, sequence conflict 2, chain 1, modified residue 1, domain 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9PGW | X-RAY DIFFRACTION | 1.46 |
| 9PGX | X-RAY DIFFRACTION | 1.46 |
| 9PGY | X-RAY DIFFRACTION | 1.55 |
| 7TAI | ELECTRON MICROSCOPY | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFT2-F1 | 89.09 | 0.82 |
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 (15): 93–100; 118; 151; 152; 160; 229; 281; 302; 316 (axial binding residue); 319; 378; 395 …
Post-translational modifications (1): 483
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 223 (showing top):
RORA1_01, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_IRON_ION_TRANSPORT, GOBP_COPPER_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, COUP_01, GOBP_EXOCYTOSIS, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, BRN2_01, GOCC_COATED_VESICLE, GOBP_SECRETION
GO Biological Process (9): Golgi to plasma membrane transport (GO:0006893), endocytosis (GO:0006897), response to hormone (GO:0009725), copper ion import (GO:0015677), regulated exocytosis (GO:0045055), copper ion import across plasma membrane (GO:0098705), iron ion import across plasma membrane (GO:0098711), monoatomic ion transport (GO:0006811), iron ion transport (GO:0006826)
GO Molecular Function (4): cupric reductase (NADH) activity (GO:0008823), metal ion binding (GO:0046872), ferric-chelate reductase (NADPH) activity (GO:0052851), oxidoreductase activity (GO:0016491)
GO Cellular Component (8): Golgi membrane (GO:0000139), endosome (GO:0005768), early endosome (GO:0005769), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), trans-Golgi network transport vesicle (GO:0030140), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| inorganic cation import across plasma membrane | 2 |
| bounding membrane of organelle | 2 |
| endosome | 2 |
| cellular anatomical structure | 2 |
| post-Golgi vesicle-mediated transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| response to endogenous stimulus | 1 |
| response to chemical | 1 |
| copper ion transport | 1 |
| exocytosis | 1 |
| plasma membrane copper ion transport | 1 |
| iron import into cell | 1 |
| iron ion transmembrane transport | 1 |
| transport | 1 |
| transition metal ion transport | 1 |
| oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor | 1 |
| cation binding | 1 |
| ferric-chelate reductase activity | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasmic vesicle membrane | 1 |
| Golgi-associated vesicle | 1 |
| transport vesicle | 1 |
| clathrin-coated vesicle | 1 |
Protein interactions and networks
STRING
568 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STEAP2 | EEA1 | Q15075 | 749 |
| STEAP2 | KLK2 | P20151 | 739 |
| STEAP2 | ACP3 | P15309 | 727 |
| STEAP2 | TGM4 | P49221 | 720 |
| STEAP2 | SLC45A3 | Q96JT2 | 697 |
| STEAP2 | KLKB1 | P03952 | 683 |
| STEAP2 | CYBRD1 | Q53TN4 | 670 |
| STEAP2 | PYCR1 | P32322 | 649 |
| STEAP2 | KLK3 | P07288 | 615 |
| STEAP2 | SLC11A2 | P49281 | 603 |
| STEAP2 | MSMB | P08118 | 544 |
| STEAP2 | SLC39A14 | Q15043 | 508 |
| STEAP2 | GBA1 | P04062 | 497 |
| STEAP2 | SLC39A8 | Q9C0K1 | 482 |
| STEAP2 | TEX47 | Q8TBZ9 | 476 |
| STEAP2 | TFRC | P02786 | 476 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| DPEP1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| DPEP1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| ZPLD1 | CEACAM8 | psi-mi:“MI:0914”(association) | 0.350 |
| NS3 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| NBAS | psi-mi:“MI:0914”(association) | 0.350 | |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| CTXN1 | ABCC4 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | XRCC2 | psi-mi:“MI:0914”(association) | 0.350 |
| PARM1 | ORC4 | psi-mi:“MI:0914”(association) | 0.350 |
| VSTM1 | FADS1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A7 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A7 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (23): STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-RNA), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Proximity Label-MS), STEAP2 (Proximity Label-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS), STEAP2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GVZ9, A4IFN5, A5PK40, A6NH52, A6NI61, B2LYG4, B2RZC9, B6ID01, D2HKB0, D3ZG27, P86229, Q0VDI3, Q15012, Q15546, Q17QJ2, Q1RLT2, Q2TA01, Q4R4I5, Q4R6E8, Q5H8A4, Q5R7Q1, Q5RAH0, Q5RL79, Q5U3C3, Q5VTY9, Q5ZML7, Q64232, Q6PHN7, Q6QRN8, Q719N3, Q71SV0, Q8BWB6, Q8IY49, Q8N6M3, Q8NFT2, Q8R189, Q8VD53, Q8VDI9, Q8VDR5, Q9CQC4
Diamond homologs: Q4V8K1, Q5RKL5, Q658P3, Q687X5, Q6NZ63, Q8BWB6, Q8CI59, Q8NFT2, Q923B6, Q9CWR7, Q9GL50, Q9UHE8, O29370
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1218 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:90211940:GTCC:G | donor_gain | 1.0000 |
| 7:90214649:G:GT | donor_gain | 1.0000 |
| 7:90225572:CAGG:C | donor_loss | 1.0000 |
| 7:90225573:AGGT:A | donor_loss | 1.0000 |
| 7:90225574:GGTA:G | donor_loss | 1.0000 |
| 7:90225575:GT:G | donor_loss | 1.0000 |
| 7:90232328:T:A | acceptor_gain | 1.0000 |
| 7:90211932:G:GT | donor_gain | 0.9900 |
| 7:90222405:T:G | donor_gain | 0.9900 |
| 7:90225044:CCCTA:C | acceptor_loss | 0.9900 |
| 7:90225046:CTA:C | acceptor_loss | 0.9900 |
| 7:90225047:TA:T | acceptor_loss | 0.9900 |
| 7:90225048:A:AG | acceptor_gain | 0.9900 |
| 7:90225048:A:T | acceptor_loss | 0.9900 |
| 7:90225048:AG:A | acceptor_gain | 0.9900 |
| 7:90225049:G:GC | acceptor_loss | 0.9900 |
| 7:90225049:G:GG | acceptor_gain | 0.9900 |
| 7:90225049:GG:G | acceptor_gain | 0.9900 |
| 7:90225049:GGAT:G | acceptor_gain | 0.9900 |
| 7:90225258:G:GT | donor_gain | 0.9900 |
| 7:90225570:GGCAG:G | donor_gain | 0.9900 |
| 7:90225571:GCAG:G | donor_gain | 0.9900 |
| 7:90225571:GCAGG:G | donor_gain | 0.9900 |
| 7:90225575:G:GG | donor_gain | 0.9900 |
| 7:90225576:T:A | donor_loss | 0.9900 |
| 7:90226965:CCACA:C | acceptor_loss | 0.9900 |
| 7:90226966:CACA:C | acceptor_loss | 0.9900 |
| 7:90226968:CA:C | acceptor_loss | 0.9900 |
| 7:90226969:AGGTT:A | acceptor_loss | 0.9900 |
| 7:90226970:G:GT | acceptor_loss | 0.9900 |
AlphaMissense
3205 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:90225510:T:A | V143D | 0.999 |
| 7:90225431:A:C | S117R | 0.998 |
| 7:90225433:C:A | S117R | 0.998 |
| 7:90225433:C:G | S117R | 0.998 |
| 7:90225513:A:T | K144I | 0.998 |
| 7:90225516:G:A | G145E | 0.998 |
| 7:90229924:A:T | E358V | 0.998 |
| 7:90229950:A:C | S367R | 0.998 |
| 7:90229952:C:A | S367R | 0.998 |
| 7:90229952:C:G | S367R | 0.998 |
| 7:90225192:G:A | G37E | 0.997 |
| 7:90225228:T:C | L49P | 0.997 |
| 7:90225514:A:C | K144N | 0.997 |
| 7:90225514:A:T | K144N | 0.997 |
| 7:90225515:G:A | G145R | 0.997 |
| 7:90225515:G:C | G145R | 0.997 |
| 7:90227383:G:T | R302I | 0.997 |
| 7:90227436:A:C | S320R | 0.997 |
| 7:90227438:C:A | S320R | 0.997 |
| 7:90227438:C:G | S320R | 0.997 |
| 7:90229898:G:C | W349C | 0.997 |
| 7:90229898:G:T | W349C | 0.997 |
| 7:90229914:T:A | W355R | 0.997 |
| 7:90229914:T:C | W355R | 0.997 |
| 7:90229941:G:C | G364R | 0.997 |
| 7:90229942:G:A | G364D | 0.997 |
| 7:90230022:T:C | F391L | 0.997 |
| 7:90230024:C:A | F391L | 0.997 |
| 7:90230024:C:G | F391L | 0.997 |
| 7:90225258:G:A | G59E | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000005900 (7:90238012 C>A,T), RS1000014686 (7:90235069 A>T), RS1000048082 (7:90242589 C>T), RS1000076813 (7:90218601 A>G), RS1000181549 (7:90210678 T>C), RS1000219674 (7:90214686 C>A), RS1000238007 (7:90217739 G>A,C), RS1000253607 (7:90211037 C>G), RS1000368627 (7:90211395 G>A,C), RS1000382211 (7:90221224 C>T), RS1000692941 (7:90225021 T>C), RS1000735322 (7:90221494 T>A,C,G), RS1000903187 (7:90232559 T>C), RS1001050724 (7:90241108 A>G), RS1001135832 (7:90238477 T>C)
Disease associations
OMIM: gene MIM:605094 | 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 |
|---|---|---|
| GCST006629_62 | Pulse pressure | 2.000000e-20 |
| GCST007269_272 | Pulse pressure | 4.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 6 |
| sodium arsenite | decreases expression, affects splicing, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| clothianidin | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Clorgyline | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | increases expression | 1 |
| Estradiol | affects expression | 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.