CNNM1
geneOn this page
Also known as SLC70A1
Summary
CNNM1 (cyclin and CBS domain divalent metal cation transport mediator 1, HGNC:102) is a protein-coding gene on chromosome 10q24.2, encoding Metal transporter CNNM1 (Q9NRU3). Probable metal transporter.
This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 26507 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 138 total
- MANE Select transcript:
NM_020348
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:102 |
| Approved symbol | CNNM1 |
| Name | cyclin and CBS domain divalent metal cation transport mediator 1 |
| Location | 10q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SLC70A1 |
| Ensembl gene | ENSG00000119946 |
| Ensembl biotype | protein_coding |
| OMIM | 607802 |
| Entrez | 26507 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000356713, ENST00000488090, ENST00000696687, ENST00000914274
RefSeq mRNA: 4 — MANE Select: NM_020348
NM_001345887, NM_001345888, NM_001345889, NM_020348
CCDS: CCDS7478, CCDS91317
Canonical transcript exons
ENST00000356713 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000811261 | 99364417 | 99364516 |
| ENSE00000811263 | 99377055 | 99377218 |
| ENSE00000811265 | 99387820 | 99388003 |
| ENSE00000811267 | 99388152 | 99388301 |
| ENSE00000811268 | 99390306 | 99390407 |
| ENSE00001237436 | 99364955 | 99365002 |
| ENSE00001237443 | 99362227 | 99362396 |
| ENSE00001237461 | 99329356 | 99330960 |
| ENSE00001353296 | 99360835 | 99360975 |
| ENSE00001914060 | 99391437 | 99394330 |
| ENSE00002490052 | 99357512 | 99357655 |
Expression profiles
Bgee: expression breadth ubiquitous, 176 present calls, max score 84.16.
FANTOM5 (CAGE): breadth broad, TPM avg 1.8058 / max 52.4389, expressed in 439 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106485 | 1.6181 | 423 |
| 106484 | 0.1754 | 98 |
| 106486 | 0.0123 | 3 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| postcentral gyrus | UBERON:0002581 | 84.16 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.49 | gold quality |
| parietal lobe | UBERON:0001872 | 83.34 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 83.14 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.28 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.24 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 82.23 | gold quality |
| frontal cortex | UBERON:0001870 | 82.21 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.13 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.06 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 81.96 | gold quality |
| sperm | CL:0000019 | 81.79 | silver quality |
| nucleus accumbens | UBERON:0001882 | 81.47 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 81.47 | gold quality |
| caudate nucleus | UBERON:0001873 | 81.44 | gold quality |
| male germ cell | CL:0000015 | 81.32 | silver quality |
| lateral globus pallidus | UBERON:0002476 | 81.29 | gold quality |
| cerebellum | UBERON:0002037 | 81.24 | gold quality |
| neocortex | UBERON:0001950 | 80.87 | gold quality |
| putamen | UBERON:0001874 | 80.80 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.79 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.02 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.96 | gold quality |
| cingulate cortex | UBERON:0003027 | 78.95 | gold quality |
| telencephalon | UBERON:0001893 | 78.88 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 78.02 | gold quality |
| forebrain | UBERON:0001890 | 77.75 | gold quality |
| brain | UBERON:0000955 | 77.47 | gold quality |
| occipital lobe | UBERON:0002021 | 77.44 | gold quality |
| right testis | UBERON:0004534 | 77.38 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 229.21 |
| E-ANND-3 | yes | 5.17 |
| E-MTAB-8060 | no | 213.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
153 targeting CNNM1, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
Literature-anchored findings (GeneRIF, showing 1)
- SNHG7 Facilitates Hepatocellular Carcinoma Occurrence by Sequestering miR-9-5p to Upregulate CNNM1 Expression. (PMID:32397799)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnnm1 | ENSDARG00000078087 |
| mus_musculus | Cnnm1 | ENSMUSG00000025189 |
| rattus_norvegicus | Cnnm1 | ENSRNOG00000016302 |
| drosophila_melanogaster | uex | FBGN0262124 |
| caenorhabditis_elegans | WBGENE00011260 | |
| caenorhabditis_elegans | WBGENE00016343 | |
| caenorhabditis_elegans | WBGENE00016879 |
Paralogs (3): CNNM2 (ENSG00000148842), CNNM4 (ENSG00000158158), CNNM3 (ENSG00000168763)
Protein
Protein identifiers
Metal transporter CNNM1 — Q9NRU3 (reviewed: Q9NRU3)
Alternative names: Ancient conserved domain-containing protein 1, Cyclin-M1
All UniProt accessions (2): Q9NRU3, A0A8Q3SIV9
UniProt curated annotations — full annotation on UniProt →
Function. Probable metal transporter.
Subcellular location. Cell membrane.
Tissue specificity. Restricted to brain and testis.
Miscellaneous. Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo.
Similarity. Belongs to the ACDP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NRU3-1 | 1 | yes |
| Q9NRU3-2 | 2 |
RefSeq proteins (4): NP_001332816, NP_001332817, NP_001332818, NP_065081* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000644 | CBS_dom | Domain |
| IPR002550 | CNNM | Domain |
| IPR044751 | Ion_transp-like_CBS | Domain |
| IPR045095 | ACDP | Family |
| IPR046342 | CBS_dom_sf | Homologous_superfamily |
| IPR057492 | Ig_CNNM1/2/4_N | Domain |
Pfam: PF00571, PF01595, PF25511, PF25562
UniProt features (21 total): transmembrane region 4, region of interest 4, compositionally biased region 3, modified residue 3, domain 3, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRU3-F1 | 67.07 | 0.24 |
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 (3): 821, 824, 850
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 100 (showing top):
AHRARNT_01, BENPORATH_ES_WITH_H3K27ME3, AP2_Q3, USF_C, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, MYCMAX_01, YY1_02, CAATGCA_MIR33, GATA2_01, RYTTCCTG_ETS2_B, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOCC_NEURON_PROJECTION, RGAGGAARY_PU1_Q6, NERF_Q2, GOBP_TRANSMEMBRANE_TRANSPORT
GO Biological Process (3): monoatomic ion transport (GO:0006811), magnesium ion homeostasis (GO:0010960), transmembrane transport (GO:0055085)
GO Molecular Function (2): transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)
GO Cellular Component (4): plasma membrane (GO:0005886), dendrite (GO:0030425), neuronal cell body (GO:0043025), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| cellular process | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
808 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNNM1 | H7C2H4 | H7C2H4 | 911 |
| CNNM1 | P0DN79 | P0DN79 | 905 |
| CNNM1 | COX11 | Q9Y6N1 | 704 |
| CNNM1 | TRPM6 | Q9BX84 | 696 |
| CNNM1 | SLC41A1 | Q8IVJ1 | 676 |
| CNNM1 | HPSE2 | Q8WWQ2 | 649 |
| CNNM1 | SLC41A2 | Q96JW4 | 598 |
| CNNM1 | TRPM7 | Q96QT4 | 595 |
| CNNM1 | NIPAL3 | Q6P499 | 519 |
| CNNM1 | SLC41A3 | Q96GZ6 | 515 |
| CNNM1 | MRS2 | Q9HD23 | 505 |
| CNNM1 | NIPAL2 | Q9H841 | 495 |
| CNNM1 | NIPAL1 | Q6NVV3 | 494 |
| CNNM1 | NIPAL4 | Q0D2K0 | 463 |
| CNNM1 | NIPA2 | Q8N8Q9 | 451 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PTP4A1 | CNNM1 | psi-mi:“MI:0915”(physical association) | 0.850 |
| MAPK14 | OBSL1 | psi-mi:“MI:0914”(association) | 0.790 |
| CNNM1 | PTP4A2 | psi-mi:“MI:0915”(physical association) | 0.760 |
| PTP4A2 | CNNM1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| PTP4A2 | PTP4A3 | psi-mi:“MI:0914”(association) | 0.640 |
| HSF2BP | CNNM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR21 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| ARL15 | SLC25A20 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRND | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| FUT3 | C1QL1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A15 | ZFPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| PTP4A1 | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| SCGB1D4 | EGFR | psi-mi:“MI:0914”(association) | 0.530 |
| PTP4A1 | PSMD3 | psi-mi:“MI:0914”(association) | 0.420 |
| PTP4A2 | USP11 | psi-mi:“MI:2364”(proximity) | 0.420 |
| PTP4A1 | PSMD3 | psi-mi:“MI:2364”(proximity) | 0.420 |
| PTP4A1 | FDFT1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DRA | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNA3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC12 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL8 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TCTN2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHA12 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| SIDT2 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (112): CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A2AWP8, A2RRH5, C9J798, O43374, O70277, O95294, P04629, P59926, Q0GA42, Q13368, Q14318, Q16512, Q29RM4, Q2HY40, Q2T9P3, Q2TBA3, Q5BIM1, Q5M7W1, Q5R5M3, Q5R811, Q5T7P8, Q5XIS9, Q62746, Q6PFQ7, Q6PFY8, Q7TNM2, Q7TP90, Q7Z4K8, Q8BG60, Q8BHT7, Q8BQC3, Q8C6N3, Q8CIW5, Q8IZ69, Q8NCT1, Q920N2, Q92546, Q925B4
Diamond homologs: A0A0B7P9G0, A0A131MCZ8, A0JPA0, A3QM97, A8EZU0, A8F2M1, A8GPR9, A8GTI4, A8GUH1, O05961, P0C588, Q0GA42, Q12296, Q1RGX2, Q32NY4, Q3TWN3, Q4UK99, Q4V3C7, Q54318, Q57368, Q5U2P1, Q67XQ0, Q68W10, Q69ZF7, Q6P4Q7, Q8NE01, Q8RY60, Q8VZI2, Q92GI2, Q9GYL2, Q9H8M5, Q9LTD8, Q9NRU3, Q9USJ3, Q9ZQR4, Q9ZVS8, Q9CM13, Q9LK65, P75586, Q49399
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 124 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 |
|---|---|---|---|
| R-HSA-425366 | 5 | 12.8× | 2e-03 |
| Neurotransmitter receptors and postsynaptic signal transmission | 7 | 9.9× | 5e-04 |
| Transmission across Chemical Synapses | 7 | 7.5× | 2e-03 |
| SLC-mediated transmembrane transport | 8 | 6.7× | 1e-03 |
| Neuronal System | 8 | 5.0× | 5e-03 |
| Transport of small molecules | 10 | 3.5× | 1e-02 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| acetylcholine receptor signaling pathway | 5 | 29.2× | 2e-04 |
| membrane depolarization | 5 | 23.9× | 3e-04 |
| monoatomic ion transmembrane transport | 8 | 15.6× | 3e-05 |
| monoatomic ion transport | 6 | 8.8× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
138 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 111 |
| Likely benign | 2 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2024 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:99330948:GAGTT:G | donor_gain | 1.0000 |
| 10:99330956:GAAGG:G | donor_gain | 1.0000 |
| 10:99330958:AGGG:A | donor_loss | 1.0000 |
| 10:99330959:GG:G | donor_gain | 1.0000 |
| 10:99330959:GGGT:G | donor_loss | 1.0000 |
| 10:99330960:GG:G | donor_gain | 1.0000 |
| 10:99357507:TCTA:T | acceptor_loss | 1.0000 |
| 10:99357508:CTA:C | acceptor_loss | 1.0000 |
| 10:99357509:TAG:T | acceptor_loss | 1.0000 |
| 10:99357510:A:AG | acceptor_gain | 1.0000 |
| 10:99357510:A:T | acceptor_loss | 1.0000 |
| 10:99357510:AG:A | acceptor_gain | 1.0000 |
| 10:99357511:G:GA | acceptor_gain | 1.0000 |
| 10:99357511:GG:G | acceptor_gain | 1.0000 |
| 10:99357511:GGA:G | acceptor_gain | 1.0000 |
| 10:99357511:GGAA:G | acceptor_gain | 1.0000 |
| 10:99357511:GGAAA:G | acceptor_gain | 1.0000 |
| 10:99357656:G:GG | donor_gain | 1.0000 |
| 10:99360822:T:TA | acceptor_gain | 1.0000 |
| 10:99360824:T:TA | acceptor_gain | 1.0000 |
| 10:99360831:ACAGC:A | acceptor_loss | 1.0000 |
| 10:99360832:CAGC:C | acceptor_loss | 1.0000 |
| 10:99360833:A:AG | acceptor_gain | 1.0000 |
| 10:99360833:AGCT:A | acceptor_gain | 1.0000 |
| 10:99360834:G:GT | acceptor_gain | 1.0000 |
| 10:99360834:GC:G | acceptor_gain | 1.0000 |
| 10:99360834:GCT:G | acceptor_gain | 1.0000 |
| 10:99360834:GCTG:G | acceptor_gain | 1.0000 |
| 10:99360834:GCTGA:G | acceptor_gain | 1.0000 |
| 10:99362211:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
6095 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:99330730:T:A | L448H | 1.000 |
| 10:99330730:T:C | L448P | 1.000 |
| 10:99330781:C:A | P465Q | 1.000 |
| 10:99330838:T:C | L484S | 1.000 |
| 10:99330952:T:C | F522S | 1.000 |
| 10:99330956:G:C | K523N | 1.000 |
| 10:99330956:G:T | K523N | 1.000 |
| 10:99357520:C:G | H528D | 1.000 |
| 10:99357524:T:C | L529P | 1.000 |
| 10:99357526:G:C | A530P | 1.000 |
| 10:99357533:T:A | V532D | 1.000 |
| 10:99357583:G:C | G549R | 1.000 |
| 10:99357584:G:T | G549V | 1.000 |
| 10:99357590:T:A | V551D | 1.000 |
| 10:99357599:A:T | E554V | 1.000 |
| 10:99357602:A:C | D555A | 1.000 |
| 10:99357612:G:C | E558D | 1.000 |
| 10:99357612:G:T | E558D | 1.000 |
| 10:99357632:T:C | I565T | 1.000 |
| 10:99357632:T:G | I565S | 1.000 |
| 10:99362386:T:C | L673P | 1.000 |
| 10:99364417:G:C | G677R | 1.000 |
| 10:99364456:T:C | F690L | 1.000 |
| 10:99364458:T:A | F690L | 1.000 |
| 10:99364458:T:G | F690L | 1.000 |
| 10:99364471:T:C | F695L | 1.000 |
| 10:99364473:T:A | F695L | 1.000 |
| 10:99364473:T:G | F695L | 1.000 |
| 10:99364484:G:A | G699D | 1.000 |
| 10:99377187:T:A | V770D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000066093 (10:99359937 CAAAA>C,CAAA,CAAAAA), RS1000078270 (10:99369037 A>G), RS1000140994 (10:99378371 T>A), RS1000146473 (10:99360131 A>C), RS1000170379 (10:99373718 G>A), RS1000182556 (10:99328294 T>C,G), RS1000193442 (10:99378614 G>A), RS1000314133 (10:99335727 G>A,C), RS1000319875 (10:99380316 A>G), RS1000377364 (10:99384994 G>A,T), RS1000394716 (10:99340606 G>A), RS1000512897 (10:99335171 T>C), RS1000517219 (10:99379838 A>C,T), RS1000521198 (10:99380247 A>G), RS1000603093 (10:99378897 G>A)
Disease associations
OMIM: gene MIM:607802 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001438_10 | Crohn’s disease | 5.000000e-07 |
| GCST004482_104 | Peripheral arterial disease (traffic-related air pollution interaction) | 9.000000e-08 |
| GCST005999_19 | Aspartate aminotransferase levels | 1.000000e-25 |
| GCST007856_1 | Colorectal cancer or advanced adenoma | 4.000000e-06 |
| GCST007856_18 | Colorectal cancer or advanced adenoma | 7.000000e-15 |
| GCST011351_17 | Aspartate aminotransferase levels | 5.000000e-24 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007908 | traffic air pollution measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| potassium chromate(VI) | decreases expression, increases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | affects expression | 1 |
| butyraldehyde | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, affects cotreatment | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Testosterone | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma, colorectal adenoma, colorectal cancer, Crohn disease, peripheral arterial disease