SLC39A9
gene geneOn this page
Also known as FLJ11274ZIP9
Summary
SLC39A9 (solute carrier family 39 member 9, HGNC:20182) is a protein-coding gene on chromosome 14q24.1, encoding Zinc transporter ZIP9 (Q9NUM3). Transports zinc ions across cell and organelle membranes into the cytoplasm and regulates intracellular zinc homeostasis.
Enables G protein-coupled receptor activity; androgen binding activity; and zinc efflux transmembrane transporter activity. Involved in intracellular zinc ion homeostasis; regulation of vascular endothelial cell proliferation; and zinc ion transmembrane transport. Located in several cellular components, including mitochondrial membrane; perinuclear region of cytoplasm; and trans-Golgi network.
Source: NCBI Gene 55334 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_018375
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20182 |
| Approved symbol | SLC39A9 |
| Name | solute carrier family 39 member 9 |
| Location | 14q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11274, ZIP9 |
| Ensembl gene | ENSG00000029364 |
| Ensembl biotype | protein_coding |
| OMIM | 619116 |
| Entrez | 55334 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 5 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000031146, ENST00000336643, ENST00000538956, ENST00000554023, ENST00000554059, ENST00000555245, ENST00000555840, ENST00000556125, ENST00000556605, ENST00000557046, ENST00000628474, ENST00000893627
RefSeq mRNA: 6 — MANE Select: NM_018375
NM_001252148, NM_001252150, NM_001252151, NM_001252152, NM_001330185, NM_018375
CCDS: CCDS58327, CCDS58328, CCDS81816, CCDS9795
Canonical transcript exons
ENST00000336643 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002478136 | 69458363 | 69462390 |
| ENSE00003081080 | 69398692 | 69399465 |
| ENSE00003460102 | 69454812 | 69454897 |
| ENSE00003612015 | 69453241 | 69453309 |
| ENSE00003619063 | 69455732 | 69455866 |
| ENSE00003623740 | 69424094 | 69424202 |
| ENSE00003688718 | 69442069 | 69442266 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 96.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 64.1961 / max 759.8381, expressed in 1825 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140339 | 54.1696 | 1823 |
| 140337 | 4.6640 | 1632 |
| 140343 | 3.9281 | 1573 |
| 140338 | 1.0046 | 659 |
| 140340 | 0.4298 | 227 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 96.61 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.12 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.80 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.61 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.78 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.04 | gold quality |
| upper leg skin | UBERON:0004262 | 92.95 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.86 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.70 | gold quality |
| caput epididymis | UBERON:0004358 | 92.64 | gold quality |
| adult organism | UBERON:0007023 | 92.62 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.20 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.03 | gold quality |
| skin of hip | UBERON:0001554 | 91.84 | gold quality |
| tibia | UBERON:0000979 | 91.63 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.48 | gold quality |
| cauda epididymis | UBERON:0004360 | 91.39 | gold quality |
| oral cavity | UBERON:0000167 | 90.71 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.66 | gold quality |
| nasopharynx | UBERON:0001728 | 90.64 | gold quality |
| tendon | UBERON:0000043 | 90.31 | gold quality |
| renal medulla | UBERON:0000362 | 90.23 | gold quality |
| eye | UBERON:0000970 | 90.23 | gold quality |
| gingiva | UBERON:0001828 | 90.22 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.84 | gold quality |
| mammalian vulva | UBERON:0000997 | 89.74 | gold quality |
| bronchial epithelial cell | CL:0002328 | 89.62 | gold quality |
| rectum | UBERON:0001052 | 89.54 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.48 | gold quality |
| decidua | UBERON:0002450 | 89.38 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
162 targeting SLC39A9, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
Literature-anchored findings (GeneRIF, showing 13)
- SLC39A9 functions to regulate zinc homeostasis in the secretory pathway without significantly altering cytosolic zinc homeostasis. (PMID:19420709)
- ZIP9 mediates testosterone promotion of apoptosis and is widely expressed in human tissues and up-regulated in malignant breast and prostate tissues, suggesting that it is a potential therapeutic target for treating breast and prostate cancers. (PMID:25014355)
- ZIP9 expression in glioma tumors was not associated with tumor grade or IDH1 mutation status. (PMID:25921144)
- ZIP9 role glioblastoma cells migration.ZIP9 expression affects phosphorylation states of p53 and GSK-3beta. (PMID:27654922)
- The results show ZIP9 is a specific Gi coupled-mAR mediating testosterone-induced MAP kinase and zinc signaling in PC3-ZIP9 cells. (PMID:28219737)
- The study connects structural features of ZIP9 to its functions and indicates a possible relevance of ZIP9 as a pharmacological target (PMID:28943399)
- Study provides evidence that mediates testosterone-induced migratory activity of metastatic prostate cancer cells. (PMID:30262433)
- The G protein-coupled receptor family C group 6 member A (GPRC6A) and zinc transporter member 9 (ZIP9) have also been portrayed as mARs, related to the extranuclear action of androgens. (PMID:30707908)
- these data illustrate epigenetic regulation of ZIP9 and its critical role in promoting radiation-induced skin fibrosis (PMID:31254515)
- Study found that the androgen dihydrotestosterone (DHT) might function via a novel membrane androgen receptor (mAR-SLC39A9) to increase nuclear androgen receptor (nAR)-negative bladder cancer (BCa) cell migration and invasion. DHT/mAR-SLC39A9 might function by altering Galphai protein-mediated MAPK/MMP9 intracellular signaling to increase nAR-negative BCa cell migration and invasion. (PMID:31506605)
- Androgens promote vascular endothelial cell proliferation through activation of a ZIP9-dependent inhibitory G protein/PI3K-Akt/Erk/cyclin D1 pathway. (PMID:34555425)
- ZIP9 Is a Druggable Determinant of Sex Differences in Melanoma. (PMID:34706862)
- Genome-wide CRISPR/Cas9 screen identifies SLC39A9 and PIK3C3 as crucial entry factors for Ebola virus infection. (PMID:39173055)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc39a9 | ENSDARG00000070447 |
| mus_musculus | Slc39a9 | ENSMUSG00000048833 |
| rattus_norvegicus | Slc39a9 | ENSRNOG00000005052 |
| drosophila_melanogaster | Zip102B | FBGN0039902 |
| caenorhabditis_elegans | WBGENE00011329 |
Protein
Protein identifiers
Zinc transporter ZIP9 — Q9NUM3 (reviewed: Q9NUM3)
Alternative names: Solute carrier family 39 member 9, Zrt- and Irt-like protein 9
All UniProt accessions (4): A0A0D9SFA2, C4N9M8, Q9NUM3, M0QX28
UniProt curated annotations — full annotation on UniProt →
Function. Transports zinc ions across cell and organelle membranes into the cytoplasm and regulates intracellular zinc homeostasis. Participates in the zinc ions efflux out of the secretory compartments. Regulates intracellular zinc level, resulting in the enhancement of AKT1 and MAPK3/MAPK1 (Erk1/2) phosphorylation in response to the BCR activation. Also functions as a membrane androgen receptor that mediates, through a G protein, the non-classical androgen signaling pathway, characterized by the activation of MAPK3/MAPK1 (Erk1/2) and transcription factors CREB1 or ATF1. This pathway contributes to CLDN1 and CLDN5 expression and tight junction formation between adjacent Sertoli cells. Mediates androgen-induced vascular endothelial cell proliferation through activation of an inhibitory G protein leading to the AKT1 and MAPK3/MAPK1 (Erk1/2) activation which in turn modulate inhibition (phosphorylation) of GSK3B and CCND1 transcription. Moreover, has dual functions as a membrane-bound androgen receptor and as an androgen-dependent zinc transporter both of which are mediated through an inhibitory G protein (Gi) that mediates both MAP kinase and zinc signaling leading to the androgen-dependent apoptotic process.
Subcellular location. Golgi apparatus. trans-Golgi network membrane. Cell membrane. Cytoplasm. Perinuclear region. Mitochondrion. Nucleus.
Tissue specificity. Highly expressed in pancreas, testis, and pituitary and moderately in the kidney, liver, uterus, heart, prostate, and brain, whereas expression is lower in the ovary and colon.
Induction. Up-regulated by testosterone in cancer cells.
Similarity. Belongs to the ZIP transporter (TC 2.A.5) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUM3-1 | 1 | yes |
| Q9NUM3-2 | 2 | |
| Q9NUM3-3 | 3 |
RefSeq proteins (6): NP_001239077, NP_001239079, NP_001239080, NP_001239081, NP_001317114, NP_060845* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003689 | ZIP | Family |
| IPR045891 | ZIP9 | Family |
Pfam: PF02535
Catalyzed reactions (Rhea), 1 shown:
- Zn(2+)(in) = Zn(2+)(out) (RHEA:29351)
UniProt features (18 total): transmembrane region 8, splice variant 3, sequence variant 3, glycosylation site 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUM3-F1 | 79.32 | 0.50 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 241, 29
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 205 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, MYOGENIN_Q6, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_APICAL_JUNCTION_ASSEMBLY, AMIT_SERUM_RESPONSE_20_MCF10A, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, GGCNKCCATNK_UNKNOWN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_RESPONSE_TO_TESTOSTERONE, GOBP_CELL_JUNCTION_ORGANIZATION, GOCC_TRANS_GOLGI_NETWORK, CATTTCA_MIR203
GO Biological Process (10): intracellular zinc ion homeostasis (GO:0006882), bicellular tight junction assembly (GO:0070830), zinc ion transmembrane transport (GO:0071577), regulation of vascular endothelial cell proliferation (GO:1905562), regulation of cellular response to testosterone stimulus (GO:2000654), monoatomic ion transport (GO:0006811), zinc ion transport (GO:0006829), G protein-coupled receptor signaling pathway (GO:0007186), metal ion transport (GO:0030001), transmembrane transport (GO:0055085)
GO Molecular Function (6): G protein-coupled receptor activity (GO:0004930), zinc ion transmembrane transporter activity (GO:0005385), androgen binding (GO:0005497), zinc efflux transmembrane transporter activity (GO:0022883), protein binding (GO:0005515), metal ion transmembrane transporter activity (GO:0046873)
GO Cellular Component (9): nucleus (GO:0005634), mitochondrion (GO:0005739), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), mitochondrial membrane (GO:0031966), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 3 |
| cytoplasm | 3 |
| cellular anatomical structure | 3 |
| transport | 2 |
| intracellular monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| apical junction assembly | 1 |
| tight junction assembly | 1 |
| zinc ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| regulation of endothelial cell proliferation | 1 |
| vascular endothelial cell proliferation | 1 |
| regulation of response to stimulus | 1 |
| regulation of cellular process | 1 |
| cellular response to testosterone stimulus | 1 |
| transition metal ion transport | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| monoatomic cation transport | 1 |
| cellular process | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| transition metal ion transmembrane transporter activity | 1 |
| zinc ion transmembrane transport | 1 |
| hormone binding | 1 |
| zinc ion transmembrane transporter activity | 1 |
| monoatomic cation efflux transmembrane transporter activity | 1 |
| binding | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| metal ion transport | 1 |
| Golgi apparatus subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
678 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC39A9 | SLC39A11 | Q8N1S5 | 861 |
| SLC39A9 | SLC39A7 | Q92504 | 854 |
| SLC39A9 | SLC39A13 | Q96H72 | 841 |
| SLC39A9 | SLC30A7 | Q8NEW0 | 840 |
| SLC39A9 | SLC39A1 | Q9NY26 | 814 |
| SLC39A9 | SLC39A6 | Q13433 | 808 |
| SLC39A9 | SLC39A10 | Q9ULF5 | 808 |
| SLC39A9 | SLC30A9 | Q6PML9 | 796 |
| SLC39A9 | SLC30A5 | Q8TAD4 | 794 |
| SLC39A9 | SLC30A6 | Q6NXT4 | 777 |
| SLC39A9 | SLC39A14 | Q15043 | 772 |
| SLC39A9 | SLC39A5 | Q6ZMH5 | 767 |
| SLC39A9 | SLC39A8 | Q9C0K1 | 751 |
| SLC39A9 | SLC30A1 | Q9Y6M5 | 748 |
| SLC39A9 | SLC30A4 | O14863 | 728 |
IntAct
129 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| SLC39A9 | SSMEM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A9 | ELOVL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A9 | SLC39A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A9 | TRHR | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L3 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HERPUD2 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TMEM237 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L1 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFSD14B | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EVI2B | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SSMEM1 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRB3 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD46 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TM4SF18 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A9 | TMEM140 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEU1 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APH1A | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBARP | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP2 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC66A1 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC10A6 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD79A | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTR2C | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFSD5 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (282): SLC39A9 (Affinity Capture-RNA), SLC39A9 (Affinity Capture-RNA), CD44 (Affinity Capture-MS), TTI2 (Affinity Capture-MS), FKRP (Affinity Capture-MS), HIP1R (Affinity Capture-MS), DNAJC13 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), SLC25A24 (Affinity Capture-MS), OSTC (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS), CANT1 (Affinity Capture-MS), SYNGR3 (Affinity Capture-MS), METTL16 (Affinity Capture-MS), KIAA0368 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2KQY6, A0A3Q7ZPG5, A4IFD7, A4IIC5, A5PMX1, A8WMY3, A8X482, O04089, O45923, O64738, O82643, O94639, P40544, P59889, Q12067, Q12436, Q28J44, Q2YDD4, Q3KR82, Q52KD7, Q54LY6, Q5BJM8, Q5BL29, Q5E960, Q5MNV6, Q5RE57, Q5U1X7, Q5ZIU9, Q640S1, Q6NRI1, Q6NRM1, Q6NTL1, Q6P3N9, Q6P6S2, Q6QQT1, Q8BFU1, Q8BWY7, Q8LE59, Q8N1S5, Q8NEW0
Diamond homologs: A0A3Q7ZPG5, A8X482, Q1KZG0, Q3KR82, Q5BL29, Q5RE57, Q5ZIU9, Q640S1, Q6NRM1, Q6NTL1, Q8BFU1, Q95JP5, Q9NUM3, Q9V3A4, Q9XTQ7, Q9XUC4, A4IGY6, A5D7L5, A8WMY3, P0DX17, P40544, Q08E40, Q13433, Q15043, Q29175, Q2M1K6, Q31125, Q4V887, Q5FVQ0, Q5R6I6, Q5R9M9, Q5RAB7, Q5RFD5, Q5TJF6, Q5ZI20, Q6L8F3, Q6MGB4, Q6P5F6, Q6PEH9, Q78IQ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1557 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:69398882:A:T | donor_gain | 1.0000 |
| 14:69424169:G:GT | donor_gain | 1.0000 |
| 14:69424201:GG:G | donor_gain | 1.0000 |
| 14:69424202:GG:G | donor_gain | 1.0000 |
| 14:69424213:G:GT | donor_gain | 1.0000 |
| 14:69424213:G:T | donor_gain | 1.0000 |
| 14:69442263:GACG:G | donor_gain | 1.0000 |
| 14:69442267:G:GA | donor_loss | 1.0000 |
| 14:69442267:G:GG | donor_gain | 1.0000 |
| 14:69442268:T:TC | donor_loss | 1.0000 |
| 14:69442269:GA:G | donor_loss | 1.0000 |
| 14:69453239:A:AG | acceptor_gain | 1.0000 |
| 14:69453240:G:GG | acceptor_gain | 1.0000 |
| 14:69454797:T:TA | acceptor_gain | 1.0000 |
| 14:69454804:A:AG | acceptor_gain | 1.0000 |
| 14:69454805:A:G | acceptor_gain | 1.0000 |
| 14:69454807:T:G | acceptor_gain | 1.0000 |
| 14:69454808:A:AG | acceptor_gain | 1.0000 |
| 14:69454809:T:G | acceptor_gain | 1.0000 |
| 14:69454809:TAGCT:T | acceptor_loss | 1.0000 |
| 14:69454810:A:AG | acceptor_gain | 1.0000 |
| 14:69454810:AGCT:A | acceptor_gain | 1.0000 |
| 14:69454811:G:GT | acceptor_gain | 1.0000 |
| 14:69454811:GC:G | acceptor_gain | 1.0000 |
| 14:69454811:GCT:G | acceptor_gain | 1.0000 |
| 14:69454811:GCTG:G | acceptor_gain | 1.0000 |
| 14:69454811:GCTGA:G | acceptor_gain | 1.0000 |
| 14:69454898:G:C | donor_loss | 1.0000 |
| 14:69455725:T:G | acceptor_gain | 1.0000 |
| 14:69455727:TCCA:T | acceptor_loss | 1.0000 |
AlphaMissense
1971 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:69399433:G:A | G22R | 1.000 |
| 14:69399433:G:C | G22R | 1.000 |
| 14:69399434:G:A | G22E | 1.000 |
| 14:69424121:G:C | G42R | 1.000 |
| 14:69424127:G:C | G44R | 1.000 |
| 14:69424128:G:A | G44D | 1.000 |
| 14:69424131:T:C | L45P | 1.000 |
| 14:69424134:T:A | L46H | 1.000 |
| 14:69424139:G:A | G48R | 1.000 |
| 14:69424139:G:C | G48R | 1.000 |
| 14:69424140:G:A | G48E | 1.000 |
| 14:69424146:C:A | A50D | 1.000 |
| 14:69424149:T:C | L51P | 1.000 |
| 14:69424169:G:A | G58R | 1.000 |
| 14:69424169:G:C | G58R | 1.000 |
| 14:69442206:G:C | G115R | 1.000 |
| 14:69442207:G:A | G115D | 1.000 |
| 14:69442207:G:T | G115V | 1.000 |
| 14:69442209:T:C | F116L | 1.000 |
| 14:69442211:C:A | F116L | 1.000 |
| 14:69442211:C:G | F116L | 1.000 |
| 14:69453288:G:C | G151R | 1.000 |
| 14:69453289:G:A | G151D | 1.000 |
| 14:69453292:T:A | L152Q | 1.000 |
| 14:69453292:T:C | L152P | 1.000 |
| 14:69453298:T:A | V154D | 1.000 |
| 14:69453300:C:A | H155N | 1.000 |
| 14:69453300:C:G | H155D | 1.000 |
| 14:69453302:T:A | H155Q | 1.000 |
| 14:69453302:T:G | H155Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000017124 (14:69443298 A>G), RS1000069566 (14:69443623 C>T), RS1000074215 (14:69416485 C>G,T), RS1000091488 (14:69435213 A>G,T), RS1000111538 (14:69439981 T>C), RS1000200655 (14:69397360 C>T), RS1000369282 (14:69450381 G>A), RS1000385117 (14:69403552 ATAG>A), RS1000390450 (14:69446166 A>C), RS1000420668 (14:69456632 T>C), RS1000423079 (14:69413245 A>G), RS1000469593 (14:69401464 T>C), RS1000576554 (14:69418634 T>G), RS1000614845 (14:69397586 C>T), RS1000617019 (14:69420943 T>C)
Disease associations
OMIM: gene MIM:619116 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004608_194 | Granulocyte percentage of myeloid white cells | 4.000000e-09 |
| GCST90002394_483 | Monocyte percentage of white cells | 1.000000e-13 |
| GCST90002398_221 | Neutrophil count | 2.000000e-22 |
| GCST90002407_625 | White blood cell count | 2.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC39 family of metal ion transporters
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Arsenic | increases abundance, affects methylation, affects cotreatment, decreases expression | 2 |
| Vehicle Emissions | decreases expression, decreases reaction, increases abundance, increases expression | 2 |
| Zinc | increases transport, decreases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance, increases expression | 2 |
| alpha-pinene | increases abundance, affects cotreatment, increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| vinclozolin | affects binding, decreases reaction | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| prochloraz | affects binding, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 3’,5’-dichloro-2-hydroxy-2-methylbut-3-enanilide | affects binding, decreases reaction | 1 |
| K 7174 | increases expression | 1 |
| motexafin gadolinium | increases expression, affects cotreatment | 1 |
| Grape Seed Proanthocyanidins | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acrolein | increases expression, increases abundance, affects cotreatment | 1 |
| Air Pollutants | increases abundance, increases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lead | increases expression | 1 |
| Ozone | increases abundance, affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2G7 | Abcam HeLa SLC39A9 KO | Cancer cell line | Female |
| CVCL_D4NT | HCT116-SLC39A9-KO-c1 | Cancer cell line | Male |
| CVCL_D4NU | HCT116-SLC39A9-KO-c14 | Cancer cell line | Male |
| CVCL_TN62 | HAP1 SLC39A9 (-) 1 | Cancer cell line | Male |
| CVCL_TN63 | HAP1 SLC39A9 (-) 2 | Cancer cell line | Male |
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.