SLC39A11
geneOn this page
Also known as ZIP11
Summary
SLC39A11 (solute carrier family 39 member 11, HGNC:14463) is a protein-coding gene on chromosome 17q24.3-q25.1, encoding Zinc transporter ZIP11 (Q8N1S5). Zinc importer that regulates cytosolic zinc concentrations either via zinc influx from the extracellular compartment or efflux from intracellular organelles such as Golgi apparatus.
Predicted to enable copper ion transmembrane transporter activity and zinc ion transmembrane transporter activity. Predicted to be involved in zinc ion transmembrane transport. Predicted to be located in Golgi apparatus; nucleus; and plasma membrane. Predicted to be active in membrane.
Source: NCBI Gene 201266 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 72 total
- Druggable target: yes
- MANE Select transcript:
NM_139177
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14463 |
| Approved symbol | SLC39A11 |
| Name | solute carrier family 39 member 11 |
| Location | 17q24.3-q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZIP11 |
| Ensembl gene | ENSG00000133195 |
| Ensembl biotype | protein_coding |
| OMIM | 616508 |
| Entrez | 201266 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 20 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000255559, ENST00000542342, ENST00000578620, ENST00000579018, ENST00000579319, ENST00000579491, ENST00000579732, ENST00000579988, ENST00000580557, ENST00000581005, ENST00000581581, ENST00000582179, ENST00000582769, ENST00000583146, ENST00000583507, ENST00000583715, ENST00000584129, ENST00000909849, ENST00000909850, ENST00000909852, ENST00000909853, ENST00000909854, ENST00000909855, ENST00000909856, ENST00000952468, ENST00000952469, ENST00000952470
RefSeq mRNA: 5 — MANE Select: NM_139177
NM_001159770, NM_001352691, NM_001352692, NM_001352693, NM_139177
CCDS: CCDS11690, CCDS54160
Canonical transcript exons
ENST00000255559 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001012856 | 72947752 | 72947875 |
| ENSE00002689467 | 72645949 | 72647662 |
| ENSE00002731313 | 73092611 | 73092688 |
| ENSE00003490264 | 73084808 | 73084846 |
| ENSE00003519818 | 73088657 | 73088775 |
| ENSE00003522932 | 72736650 | 72736719 |
| ENSE00003652234 | 72649170 | 72649268 |
| ENSE00003690951 | 72648803 | 72648961 |
| ENSE00003693035 | 73031556 | 73031714 |
| ENSE00003784128 | 72849634 | 72849804 |
Expression profiles
Bgee: expression breadth ubiquitous, 239 present calls, max score 93.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.0254 / max 252.8718, expressed in 1762 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 167882 | 8.3821 | 1757 |
| 167876 | 0.5660 | 161 |
| 167881 | 0.0773 | 29 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow cell | CL:0002092 | 93.82 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.55 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.76 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.08 | gold quality |
| monocyte | CL:0000576 | 88.87 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 88.80 | gold quality |
| rectum | UBERON:0001052 | 88.61 | gold quality |
| leukocyte | CL:0000738 | 88.58 | gold quality |
| upper arm skin | UBERON:0004263 | 88.37 | gold quality |
| liver | UBERON:0002107 | 87.71 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.51 | gold quality |
| duodenum | UBERON:0002114 | 87.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.00 | gold quality |
| corpus callosum | UBERON:0002336 | 86.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.72 | gold quality |
| bone marrow | UBERON:0002371 | 86.58 | gold quality |
| thyroid gland | UBERON:0002046 | 86.47 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.63 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 85.62 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 85.61 | gold quality |
| pancreas | UBERON:0001264 | 85.60 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.50 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 85.47 | gold quality |
| body of pancreas | UBERON:0001150 | 85.10 | gold quality |
| minor salivary gland | UBERON:0001830 | 85.03 | gold quality |
| tonsil | UBERON:0002372 | 84.97 | gold quality |
| parotid gland | UBERON:0001831 | 84.82 | gold quality |
| oviduct epithelium | UBERON:0004804 | 84.49 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 84.29 | gold quality |
| stomach | UBERON:0000945 | 84.26 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 25.84 |
| E-ANND-3 | yes | 12.76 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MTF1
miRNA regulators (miRDB)
82 targeting SLC39A11, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
Literature-anchored findings (GeneRIF, showing 6)
- This paper describes the genomic region surrounding the SOX9 gene which includes SLC39A11 (C17orf26). (PMID:11707075)
- Polymorphisms within ZIP11 gene were significantly associated with bladder cancer risk. (PMID:25900876)
- In glioma tumors, low ZIP11 expression was significantly associated with higher grade. Higher ZIP11 expression was weakly correlated with IDH1 mutation status. (PMID:25921144)
- We found 8 different single nucleotide polymorphisms (SNPs) that are significantly different between subjects without gastritis and those with gastritis… In conclusion, we found that zinc transporter gene ZIP11 is associated with chronic gastritis in the Korean population and it may interact with spicy food, which suggests ZIP11 as a therapeutic target for precision nutrition. (PMID:30122198)
- Increased expression of zinc transporter ZIP4, ZIP11, ZnT1, and ZnT6 predicts poor prognosis in pancreatic cancer. (PMID:33631610)
- Single nucleotide polymorphisms and Zn transport by ZIP11 shape functional phenotypes of HeLa cells. (PMID:38285610)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | SLC39A11 | ENSDARG00000098194 |
| mus_musculus | Slc39a11 | ENSMUSG00000041654 |
| rattus_norvegicus | Slc39a11 | ENSRNOG00000031213 |
| drosophila_melanogaster | Zip48C | FBGN0033665 |
| caenorhabditis_elegans | zipt-11 | WBGENE00019077 |
Protein
Protein identifiers
Zinc transporter ZIP11 — Q8N1S5 (reviewed: Q8N1S5)
Alternative names: Solute carrier family 39 member 11, Zrt- and Irt-like protein 11
All UniProt accessions (11): Q8N1S5, J3KRI1, J3KRX2, J3KS66, J3KT59, J3KTP1, J3QLA9, J3QLB2, J3QQP1, J3QRN3, J3QS49
UniProt curated annotations — full annotation on UniProt →
Function. Zinc importer that regulates cytosolic zinc concentrations either via zinc influx from the extracellular compartment or efflux from intracellular organelles such as Golgi apparatus. May transport copper ions as well. The transport mechanism remains to be elucidated.
Subcellular location. Cell membrane. Nucleus. Cytoplasm. Golgi apparatus.
Similarity. Belongs to the ZIP transporter (TC 2.A.5) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N1S5-1 | 1 | yes |
| Q8N1S5-2 | 2 |
RefSeq proteins (5): NP_001153242, NP_001339620, NP_001339621, NP_001339622, NP_631916* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003689 | ZIP | Family |
Pfam: PF02535
Catalyzed reactions (Rhea), 2 shown:
- Cu(2+)(in) = Cu(2+)(out) (RHEA:28703)
- Zn(2+)(in) = Zn(2+)(out) (RHEA:29351)
UniProt features (11 total): transmembrane region 7, chain 1, sequence conflict 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N1S5-F1 | 76.64 | 0.51 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 153 (showing top):
GOBP_TRANSITION_METAL_ION_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_COPPER_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, MARTINEZ_RB1_TARGETS_UP, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B, ELK1_01, GOBP_IMPORT_INTO_CELL, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_TRANSMEMBRANE_TRANSPORT, MGGAAGTG_GABP_B, GOMF_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOATOMIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY
GO Biological Process (7): zinc ion transmembrane transport (GO:0071577), zinc ion import across plasma membrane (GO:0071578), monoatomic ion transport (GO:0006811), zinc ion transport (GO:0006829), metal ion transport (GO:0030001), copper ion transmembrane transport (GO:0035434), transmembrane transport (GO:0055085)
GO Molecular Function (3): copper ion transmembrane transporter activity (GO:0005375), zinc ion transmembrane transporter activity (GO:0005385), metal ion transmembrane transporter activity (GO:0046873)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| monoatomic cation transmembrane transport | 2 |
| zinc ion transmembrane transport | 2 |
| transport | 2 |
| transition metal ion transmembrane transporter activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| zinc ion transport | 1 |
| inorganic cation import across plasma membrane | 1 |
| transition metal ion transport | 1 |
| monoatomic cation transport | 1 |
| copper ion transport | 1 |
| cellular process | 1 |
| copper ion transmembrane transport | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| metal ion transport | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
780 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC39A11 | SLC39A9 | Q9NUM3 | 861 |
| SLC39A11 | SLC39A7 | Q92504 | 838 |
| SLC39A11 | SLC39A13 | Q96H72 | 805 |
| SLC39A11 | SLC30A7 | Q8NEW0 | 793 |
| SLC39A11 | SLC30A9 | Q6PML9 | 792 |
| SLC39A11 | SLC39A1 | Q9NY26 | 789 |
| SLC39A11 | SLC39A12 | Q504Y0 | 775 |
| SLC39A11 | SLC39A6 | Q13433 | 768 |
| SLC39A11 | SLC39A5 | Q6ZMH5 | 766 |
| SLC39A11 | SLC39A10 | Q9ULF5 | 766 |
| SLC39A11 | SLC30A6 | Q6NXT4 | 753 |
| SLC39A11 | SLC39A3 | Q9BRY0 | 747 |
| SLC39A11 | SLC39A14 | Q15043 | 746 |
| SLC39A11 | SLC30A1 | Q9Y6M5 | 732 |
| SLC39A11 | SLC30A5 | Q8TAD4 | 725 |
IntAct
99 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TOMM70 | psi-mi:“MI:0914”(association) | 0.980 | |
| SCN2B | EXOC5 | psi-mi:“MI:0914”(association) | 0.640 |
| CD33 | PEX19 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM174A | GAK | psi-mi:“MI:0914”(association) | 0.640 |
| BTN3A2 | BTN3A1 | psi-mi:“MI:0914”(association) | 0.600 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| PCDHB16 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPHA1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC4C | DVL2 | psi-mi:“MI:0914”(association) | 0.530 |
| VASN | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM51 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD274 | TTI1 | psi-mi:“MI:0914”(association) | 0.530 |
| SIGLEC12 | HSPA5 | psi-mi:“MI:0914”(association) | 0.530 |
| EFNB2 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| COMTD1 | IFRD1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A11 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| WBP1 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| IZUMO1 | ADCY3 | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| CD40 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| CD274 | PEX19 | psi-mi:“MI:0914”(association) | 0.530 |
| GALNT16 | IPO8 | psi-mi:“MI:0914”(association) | 0.530 |
| NTRK3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.480 |
BioGRID (227): SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS)
ESM2 similar proteins: A0A0H3LM39, A1AFW5, A1KRK6, A7ZRS2, A8ZVV7, A9MPX1, A9N5W7, B1ISB7, B1LF36, B1XG45, B2FM90, B4SPV6, B4T660, B4TI40, B4TVS2, B5BG02, B5F683, B5FV58, B5QZ27, B5REE9, B5YR85, B6I411, B7LGI2, B7LQB7, B7LZI9, B7MAB7, B7N0I9, B7ND33, B7NJQ3, B7UIV3, C0PYW1, P0A8H3, P0A8H4, P0A8H5, P67470, P67471, Q06916, Q0TD62, Q2YDD4, Q3YXK1
Diamond homologs: A0A0H3LM39, Q06916, Q28J44, Q2YDD4, Q6P6S2, Q8BWY7, Q8FTK0, Q8N1S5, Q8NQK0, Q8XMG8, Q9PIN2, A1AFW5, A1KRK6, A4SE48, A4WEI1, A7ZRS2, A8A4J6, A8ZVV7, A9MPX1, A9N5W7, B1HYT6, B1ISB7, B1LF36, B1XG45, B2FM90, B2UL32, B3ECE6, B3QP89, B4SPV6, B4T660, B4TI40, B4TVS2, B5BG02, B5F683, B5FV58, B5QZ27, B5REE9, B5YR85, B6I411, B7LGI2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 114 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| T cell costimulation | 6 | 22.0× | 3e-04 |
| negative regulation of T cell receptor signaling pathway | 5 | 18.0× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4759 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:72647660:CCA:C | acceptor_gain | 1.0000 |
| 17:72647661:CAC:C | acceptor_gain | 1.0000 |
| 17:72647663:C:CC | acceptor_gain | 1.0000 |
| 17:72648797:TCCAA:T | donor_loss | 1.0000 |
| 17:72648798:CCAA:C | donor_loss | 1.0000 |
| 17:72648799:CAA:C | donor_loss | 1.0000 |
| 17:72648800:AAC:A | donor_loss | 1.0000 |
| 17:72648801:A:AT | donor_loss | 1.0000 |
| 17:72648802:CCT:C | donor_loss | 1.0000 |
| 17:72648957:CATAC:C | acceptor_gain | 1.0000 |
| 17:72648958:ATAC:A | acceptor_gain | 1.0000 |
| 17:72648959:TAC:T | acceptor_gain | 1.0000 |
| 17:72648960:AC:A | acceptor_gain | 1.0000 |
| 17:72648960:ACC:A | acceptor_loss | 1.0000 |
| 17:72648960:ACCT:A | acceptor_gain | 1.0000 |
| 17:72648961:CC:C | acceptor_gain | 1.0000 |
| 17:72648962:C:CA | acceptor_loss | 1.0000 |
| 17:72648962:C:CC | acceptor_gain | 1.0000 |
| 17:72736716:CCCT:C | acceptor_gain | 1.0000 |
| 17:72736717:CCTC:C | acceptor_gain | 1.0000 |
| 17:72736729:A:C | acceptor_gain | 1.0000 |
| 17:72849811:A:T | acceptor_gain | 1.0000 |
| 17:72947754:AT:A | donor_gain | 1.0000 |
| 17:72947755:T:C | donor_gain | 1.0000 |
| 17:73031548:GTACT:G | donor_loss | 1.0000 |
| 17:73031550:ACTC:A | donor_loss | 1.0000 |
| 17:73031552:TCAC:T | donor_loss | 1.0000 |
| 17:73031553:CA:C | donor_loss | 1.0000 |
| 17:73031554:A:AC | donor_gain | 1.0000 |
| 17:73031554:AC:A | donor_gain | 1.0000 |
AlphaMissense
2162 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:72648946:G:C | S269R | 0.999 |
| 17:72648946:G:T | S269R | 0.999 |
| 17:72648948:T:G | S269R | 0.999 |
| 17:72649228:C:G | G245R | 0.999 |
| 17:72649238:A:C | N241K | 0.999 |
| 17:72649238:A:T | N241K | 0.999 |
| 17:72736710:G:T | A211D | 0.999 |
| 17:73084826:A:C | S43R | 0.999 |
| 17:73084826:A:T | S43R | 0.999 |
| 17:73084828:T:G | S43R | 0.999 |
| 17:72647624:C:T | G330E | 0.998 |
| 17:72647625:C:G | G330R | 0.998 |
| 17:72647625:C:T | G330R | 0.998 |
| 17:72649214:G:C | S249R | 0.998 |
| 17:72649214:G:T | S249R | 0.998 |
| 17:72649216:T:G | S249R | 0.998 |
| 17:72649221:G:T | A247D | 0.998 |
| 17:72649248:C:T | G238E | 0.998 |
| 17:72649260:G:T | A234D | 0.998 |
| 17:72736707:A:T | V212D | 0.998 |
| 17:72736717:C:G | G209R | 0.998 |
| 17:73084815:G:T | A47D | 0.998 |
| 17:73088710:A:G | W19R | 0.998 |
| 17:73088710:A:T | W19R | 0.998 |
| 17:72647620:A:C | F331L | 0.997 |
| 17:72647620:A:T | F331L | 0.997 |
| 17:72647622:A:G | F331L | 0.997 |
| 17:72648813:C:G | A314P | 0.997 |
| 17:72648854:C:T | G300D | 0.997 |
| 17:72648860:G:T | A298D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000001775 (17:72714124 G>A), RS1000003818 (17:73083509 G>A,C), RS1000007714 (17:72863401 A>C), RS1000012393 (17:72678778 T>C), RS1000025155 (17:72938301 C>T), RS1000025617 (17:72964830 T>C), RS1000030653 (17:72787385 G>A), RS1000037003 (17:72825589 T>C), RS1000052536 (17:73044810 G>A), RS1000053172 (17:73010754 A>C,G), RS1000057386 (17:72787184 C>T), RS1000064507 (17:72709830 T>C), RS1000068398 (17:72929506 G>A), RS1000070638 (17:72973575 T>C), RS1000072763 (17:72908785 T>C,G)
Disease associations
OMIM: gene MIM:616508 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): ependymoma (MONDO:0016698)
Orphanet (1): Ependymoma (Orphanet:251636)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000406_6 | Amyotrophic lateral sclerosis | 8.000000e-06 |
| GCST001523_31 | Visceral adipose tissue adjusted for BMI | 2.000000e-06 |
| GCST001859_35 | Thiazide-induced adverse metabolic effects in hypertensive patients | 3.000000e-06 |
| GCST002028_4 | Serum selenium levels | 4.000000e-07 |
| GCST002183_1 | Relative hand skill in reading disability | 5.000000e-06 |
| GCST002207_8 | Liver enzyme levels (alanine transaminase) | 6.000000e-06 |
| GCST002396_26 | Smoking initiation | 1.000000e-07 |
| GCST004131_91 | Inflammatory bowel disease | 4.000000e-11 |
| GCST004133_59 | Ulcerative colitis | 4.000000e-10 |
| GCST004586_2 | Body mass index (ever vs never smoking interaction) | 1.000000e-06 |
| GCST004735_39 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 3.000000e-06 |
| GCST005537_37 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 6.000000e-11 |
| GCST006658_9 | Longevity | 8.000000e-06 |
| GCST006719_14 | BRCA1/2-negative high-risk breast cancer | 7.000000e-06 |
| GCST007393_10 | Mitochondrial DNA copy number | 2.000000e-07 |
| GCST008178_12 | Early spontaneous preterm birth | 3.000000e-06 |
| GCST011742_37 | Triglyceride levels in HIV infection | 1.000000e-05 |
| GCST012190_12 | Body mass index and diastolic blood pressure (bivariate analysis) | 4.000000e-06 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0009902 | handedness |
| EFO:0005670 | smoking initiation |
| EFO:0009443 | BRCAX breast cancer |
| EFO:0006312 | mitochondrial DNA measurement |
| EFO:0006917 | spontaneous preterm birth |
| EFO:0004530 | triglyceride measurement |
| EFO:0006336 | diastolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D004806 | Ependymoma | C04.557.465.625.600.380.290; C04.557.470.670.380.290; C04.557.580.625.600.380.290 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067388 (SINGLE PROTEIN)
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
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.77 | Kd | 1698 | nM | CHEMBL5653589 |
| 5.77 | ED50 | 1707 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149423: Binding affinity to human SLC39A11 incubated for 45 mins by Kinobead based pull down assay | kd | 1.6978 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 6 |
| Valproic Acid | increases expression, affects expression, affects cotreatment | 6 |
| Aflatoxin B1 | increases methylation, affects expression, decreases expression | 4 |
| bisphenol A | increases methylation, affects cotreatment, increases expression | 2 |
| Calcitriol | decreases expression, increases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Copper Sulfate | decreases expression, increases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bufotalin | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| N-acetyl-4-benzoquinoneimine | affects response to substance | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | 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 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | 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 | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652465 | Binding | Binding affinity to human SLC39A11 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4NC | HCT116-SLC39A11-KO-c23 | Cancer cell line | Male |
| CVCL_D4ND | HCT116-SLC39A11-KO-c5 | Cancer cell line | Male |
| CVCL_TN52 | HAP1 SLC39A11 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
95 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00517959 | PHASE3 | UNKNOWN | SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors |
| NCT01096368 | PHASE3 | COMPLETED | Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma |
| NCT00003479 | PHASE2 | TERMINATED | Antineoplaston Therapy in Treating Patients With Ependymoma |
| NCT00520936 | PHASE2 | COMPLETED | A Study of Pemetrexed in Children With Recurrent Cancer |
| NCT00840047 | PHASE2 | ACTIVE_NOT_RECRUITING | Methionine PET/CT Studies In Patients With Cancer |
| NCT01088035 | PHASE2 | TERMINATED | Carboplatin as a Radiosensitizer in Treating Childhood Ependymoma |
| NCT01247922 | PHASE2 | TERMINATED | Single-agent Erlotinib in Patients Previously Treated With Oral Etoposide in Protocol OSI-774-205 |
| NCT01288235 | PHASE2 | COMPLETED | Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation |
| NCT01295944 | PHASE2 | COMPLETED | Carboplatin and Bevacizumab for Recurrent Ependymoma |
| NCT01356290 | PHASE2 | RECRUITING | Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors |
| NCT01836549 | PHASE2 | TERMINATED | Imetelstat Sodium in Treating Younger Patients With Recurrent or Refractory Brain Tumors |
| NCT02125786 | PHASE2 | ACTIVE_NOT_RECRUITING | A Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma |
| NCT02689336 | PHASE2 | WITHDRAWN | Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors |
| NCT03095248 | PHASE2 | TERMINATED | Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors |
| NCT03155620 | PHASE2 | ACTIVE_NOT_RECRUITING | Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) |
| NCT03173950 | PHASE2 | COMPLETED | Immune Checkpoint Inhibitor Nivolumab in People With Recurrent Select Rare CNS Cancers |
| NCT03194906 | PHASE2 | COMPLETED | Memantine for Prevention of Cognitive Late Effects in Pediatric Patients Receiving Cranial Radiation Therapy for Localized Brain Tumors |
| NCT03210714 | PHASE2 | ACTIVE_NOT_RECRUITING | Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03213652 | PHASE2 | ACTIVE_NOT_RECRUITING | Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial) |
| NCT03213665 | PHASE2 | COMPLETED | Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03213678 | PHASE2 | COMPLETED | Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03213704 | PHASE2 | ACTIVE_NOT_RECRUITING | Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) |
| NCT03220035 | PHASE2 | COMPLETED | Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03233204 | PHASE2 | COMPLETED | Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) |
| NCT03526250 | PHASE2 | COMPLETED | Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) |
| NCT03698994 | PHASE2 | ACTIVE_NOT_RECRUITING | Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03727841 | PHASE2 | TERMINATED | Marizomib for Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial, and Spinal Cord Ependymoma |
| NCT04049669 | PHASE2 | ACTIVE_NOT_RECRUITING | Pediatric Trial of Indoximod With Chemotherapy and Radiation for Relapsed Brain Tumors or Newly Diagnosed DIPG |
| NCT04195555 | PHASE2 | ACTIVE_NOT_RECRUITING | Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial) |
| NCT04284774 | PHASE2 | ACTIVE_NOT_RECRUITING | Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial |
| NCT04320888 | PHASE2 | ACTIVE_NOT_RECRUITING | Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial |
| NCT04374305 | PHASE2 | RECRUITING | Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2) |
| NCT04743661 | PHASE2 | ACTIVE_NOT_RECRUITING | 131I-Omburtamab, in Recurrent Medulloblastoma and Ependymoma |
| NCT06804655 | PHASE2 | NOT_YET_RECRUITING | Pharmacoscopy for Patients With Refractory Primary Brain Tumors |
| NCT07424092 | PHASE2 | RECRUITING | Intratumoral DNX-2401 for High Grade Pediatric Brain Tumors |
| NCT00634231 | PHASE1 | COMPLETED | A Phase I Study of AdV-tk + Prodrug Therapy in Combination With Radiation Therapy for Pediatric Brain Tumors |
| NCT00994071 | PHASE1 | COMPLETED | A Phase I Study of ABT-888, an Oral Inhibitor of Poly(ADP-ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors |
| NCT01171469 | PHASE1 | COMPLETED | Vaccination With Dendritic Cells Loaded With Brain Tumor Stem Cells for Progressive Malignant Brain Tumor |
| NCT01331135 | PHASE1 | COMPLETED | Aflac ST0901 CHOANOME - Sirolimus in Solid Tumors |
| NCT01498783 | PHASE1 | COMPLETED | Phase I Study of 5-Fluorouracil in Children and Young Adults With Recurrent Ependymoma |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amyotrophic lateral sclerosis, ankylosing spondylitis, ependymoma, Epstein-Barr virus infection, psoriasis, sclerosing cholangitis