SLC38A7
gene geneOn this page
Also known as FLJ10815SNAT7
Summary
SLC38A7 (solute carrier family 38 member 7, HGNC:25582) is a protein-coding gene on chromosome 16q21, encoding Sodium-coupled neutral amino acid transporter 7 (Q9NVC3). Symporter that selectively cotransports sodium ions and amino acids, such as L-glutamine and L-asparagine from the lysosome into the cytoplasm and may participates in mTORC1 activation.
Enables L-asparagine:sodium symporter activity and L-glutamine:sodium symporter activity. Involved in asparagine transport and glutamine transport. Located in lysosomal membrane.
Source: NCBI Gene 55238 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 60 total
- Druggable target: yes
- MANE Select transcript:
NM_018231
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25582 |
| Approved symbol | SLC38A7 |
| Name | solute carrier family 38 member 7 |
| Location | 16q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10815, SNAT7 |
| Ensembl gene | ENSG00000103042 |
| Ensembl biotype | protein_coding |
| OMIM | 614236 |
| Entrez | 55238 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 19 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000219320, ENST00000562149, ENST00000562397, ENST00000563196, ENST00000564010, ENST00000564100, ENST00000564391, ENST00000564720, ENST00000564964, ENST00000565785, ENST00000566598, ENST00000566953, ENST00000567930, ENST00000569209, ENST00000570101, ENST00000570214, ENST00000873636, ENST00000873637, ENST00000873638, ENST00000934505, ENST00000934506, ENST00000934507, ENST00000934508, ENST00000934509, ENST00000934510, ENST00000957363, ENST00000957364
RefSeq mRNA: 6 — MANE Select: NM_018231
NM_001308384, NM_001369608, NM_001369609, NM_001369610, NM_001369611, NM_018231
CCDS: CCDS10800, CCDS76883
Canonical transcript exons
ENST00000219320 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001201582 | 58683955 | 58684178 |
| ENSE00001201588 | 58684717 | 58684770 |
| ENSE00001296278 | 58665109 | 58667487 |
| ENSE00003458608 | 58675940 | 58676054 |
| ENSE00003463909 | 58677326 | 58677424 |
| ENSE00003511293 | 58672096 | 58672243 |
| ENSE00003548043 | 58678696 | 58678894 |
| ENSE00003581857 | 58676289 | 58676346 |
| ENSE00003620234 | 58671045 | 58671244 |
| ENSE00003623017 | 58678333 | 58678474 |
| ENSE00003669287 | 58679857 | 58680241 |
| ENSE00003687026 | 58670113 | 58670167 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 92.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.2858 / max 32.5501, expressed in 1737 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157629 | 4.4718 | 1712 |
| 157628 | 0.7923 | 538 |
| 157627 | 0.0217 | 4 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 92.97 | gold quality |
| right testis | UBERON:0004534 | 92.78 | gold quality |
| left testis | UBERON:0004533 | 92.75 | gold quality |
| male germ cell | CL:0000015 | 91.54 | gold quality |
| apex of heart | UBERON:0002098 | 91.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.92 | gold quality |
| testis | UBERON:0000473 | 89.78 | gold quality |
| oocyte | CL:0000023 | 88.13 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.38 | gold quality |
| secondary oocyte | CL:0000655 | 86.25 | gold quality |
| cardiac ventricle | UBERON:0002082 | 86.06 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.97 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.59 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.23 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.85 | gold quality |
| adrenal cortex | UBERON:0001235 | 84.63 | gold quality |
| adrenal gland | UBERON:0002369 | 83.93 | gold quality |
| cortical plate | UBERON:0005343 | 83.16 | gold quality |
| heart | UBERON:0000948 | 82.75 | gold quality |
| right lobe of liver | UBERON:0001114 | 82.56 | gold quality |
| metanephros cortex | UBERON:0010533 | 82.03 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 82.02 | gold quality |
| right atrium auricular region | UBERON:0006631 | 81.93 | gold quality |
| spleen | UBERON:0002106 | 81.76 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.53 | gold quality |
| granulocyte | CL:0000094 | 81.45 | gold quality |
| monocyte | CL:0000576 | 81.19 | gold quality |
| mononuclear cell | CL:0000842 | 81.13 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.05 | gold quality |
| leukocyte | CL:0000738 | 80.92 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.32 |
| E-HCAD-5 | no | 2.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
121 targeting SLC38A7, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
Literature-anchored findings (GeneRIF, showing 4)
- Cell fractionation confirmed the lysosomal localization of SNAT7, and flux measurements confirmed its substrate selectivity and showed a strong activation by the lysosomal pH gradient. Interestingly, gene silencing or editing experiments revealed that SNAT7 is the primary permeation pathway for glutamine across the lysosomal membrane and it is required for growth of cancer cells in a low free-glutamine environment. (PMID:28416685)
- GWAS identified a novel gene encoding an anastrozole transporter, SLC38A7, as well as epistatic interaction between SNPs in that gene and SNPs near ALPPL2 that influenced both the expression of the transporter and anastrozole plasma concentrations (PMID:30648747)
- Identification of SLC38A7 as a Prognostic Marker and Potential Therapeutic Target of Lung Squamous Cell Carcinoma. (PMID:34171866)
- SNAT7 regulates mTORC1 via macropinocytosis. (PMID:35561222)
Cross-species orthologs
20 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc38a7 | ENSDARG00000012002 |
| mus_musculus | Slc38a7 | ENSMUSG00000036534 |
| rattus_norvegicus | Slc38a7 | ENSRNOG00000012007 |
| drosophila_melanogaster | CG16700 | FBGN0030816 |
| drosophila_melanogaster | CG4991 | FBGN0030817 |
| drosophila_melanogaster | CG13384 | FBGN0032036 |
| drosophila_melanogaster | polyph | FBGN0033572 |
| drosophila_melanogaster | VGAT | FBGN0033911 |
| drosophila_melanogaster | acs | FBGN0035300 |
| drosophila_melanogaster | CG7888 | FBGN0036116 |
| drosophila_melanogaster | CG32079 | FBGN0052079 |
| drosophila_melanogaster | CG32081 | FBGN0052081 |
| drosophila_melanogaster | mah | FBGN0285912 |
| caenorhabditis_elegans | WBGENE00006783 | |
| caenorhabditis_elegans | slc-36.4 | WBGENE00010421 |
| caenorhabditis_elegans | Y18D10A.23 | WBGENE00012487 |
| caenorhabditis_elegans | WBGENE00012629 | |
| caenorhabditis_elegans | WBGENE00012804 | |
| caenorhabditis_elegans | WBGENE00019837 | |
| caenorhabditis_elegans | WBGENE00020837 |
Paralogs (15): SLC38A5 (ENSG00000017483), SLC32A1 (ENSG00000101438), SLC38A1 (ENSG00000111371), SLC36A1 (ENSG00000123643), SLC38A2 (ENSG00000134294), SLC38A4 (ENSG00000139209), SLC38A6 (ENSG00000139974), SLC38A10 (ENSG00000157637), SLC38A8 (ENSG00000166558), SLC38A11 (ENSG00000169507), SLC38A9 (ENSG00000177058), SLC36A4 (ENSG00000180773), SLC36A3 (ENSG00000186334), SLC36A2 (ENSG00000186335), SLC38A3 (ENSG00000188338)
Protein
Protein identifiers
Sodium-coupled neutral amino acid transporter 7 — Q9NVC3 (reviewed: Q9NVC3)
Alternative names: Solute carrier family 38 member 7
All UniProt accessions (9): Q9NVC3, H3BMC5, H3BN87, H3BP25, H3BPK8, H3BPV9, H3BRZ0, H3BU46, H3BV81
UniProt curated annotations — full annotation on UniProt →
Function. Symporter that selectively cotransports sodium ions and amino acids, such as L-glutamine and L-asparagine from the lysosome into the cytoplasm and may participates in mTORC1 activation. The transport activity requires an acidic lysosomal lumen.
Subunit / interactions. Interacts with the mTORC1 complex; this interaction mediates the recruitment of mTORC1 to the lysosome and its subsequent activation.
Subcellular location. Lysosome membrane. Cell projection. Axon.
Similarity. Belongs to the amino acid/polyamine transporter 2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVC3-1 | 1 | yes |
| Q9NVC3-2 | 2 |
RefSeq proteins (6): NP_001295313, NP_001356537, NP_001356538, NP_001356539, NP_001356540, NP_060701* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013057 | AA_transpt_TM | Domain |
Pfam: PF01490
Catalyzed reactions (Rhea), 2 shown:
- L-glutamine(in) + Na(+)(in) = L-glutamine(out) + Na(+)(out) (RHEA:68236)
- L-asparagine(in) + Na(+)(in) = L-asparagine(out) + Na(+)(out) (RHEA:71383)
UniProt features (18 total): transmembrane region 11, sequence variant 2, sequence conflict 2, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVC3-F1 | 84.28 | 0.59 |
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 (1): 28
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 119 (showing top):
GOCC_VACUOLAR_MEMBRANE, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, AACWWCAANK_UNKNOWN, GOBP_ORGANIC_ACID_TRANSPORT, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, chr16q21, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GCM_NF2, GOCC_NEURON_PROJECTION, GOBP_NEUTRAL_AMINO_ACID_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT
GO Biological Process (6): amino acid transmembrane transport (GO:0003333), sodium ion transport (GO:0006814), asparagine transport (GO:0006867), L-glutamine transport (GO:0006868), monoatomic ion transport (GO:0006811), amino acid transport (GO:0006865)
GO Molecular Function (5): L-asparagine transmembrane transporter activity (GO:0015182), L-glutamine transmembrane transporter activity (GO:0015186), L-asparagine:sodium symporter activity (GO:0140901), L-glutamine:sodium symporter activity (GO:0140902), protein binding (GO:0005515)
GO Cellular Component (6): lysosomal membrane (GO:0005765), membrane (GO:0016020), axon (GO:0030424), neuronal cell body (GO:0043025), lysosome (GO:0005764), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| neutral amino acid transport | 2 |
| transport | 2 |
| neutral L-amino acid transmembrane transporter activity | 2 |
| L-amino acid transmembrane transporter activity | 2 |
| neutral L-amino acid:sodium symporter activity | 2 |
| alanine:sodium symporter activity | 2 |
| cellular anatomical structure | 2 |
| amino acid transport | 1 |
| transmembrane transport | 1 |
| metal ion transport | 1 |
| carboxylic acid transport | 1 |
| nitrogen compound transport | 1 |
| L-amino acid transport | 1 |
| asparagine transport | 1 |
| L-glutamine transport | 1 |
| L-asparagine transmembrane transporter activity | 1 |
| L-glutamine transmembrane transporter activity | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| neuron projection | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| lytic vacuole | 1 |
Protein interactions and networks
STRING
986 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC38A7 | SLC36A1 | Q7Z2H8 | 613 |
| SLC38A7 | SLC66A1 | Q6ZP29 | 565 |
| SLC38A7 | SLC43A2 | Q8N370 | 532 |
| SLC38A7 | SLC7A8 | Q9UHI5 | 522 |
| SLC38A7 | SLC7A6 | Q92536 | 522 |
| SLC38A7 | SLC38A9 | Q8NBW4 | 518 |
| SLC38A7 | SLC1A5 | Q15758 | 477 |
| SLC38A7 | SLC1A4 | P43007 | 470 |
| SLC38A7 | SLC7A7 | Q9UM01 | 466 |
| SLC38A7 | SLC7A5 | Q01650 | 464 |
| SLC38A7 | SLC7A4 | O43246 | 461 |
| SLC38A7 | YIPF3 | Q9GZM5 | 444 |
| SLC38A7 | SLC36A4 | Q6YBV0 | 442 |
| SLC38A7 | CARHSP1 | Q9Y2V2 | 438 |
| SLC38A7 | COPS7A | Q9UBW8 | 417 |
IntAct
192 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC38A7 | RNF5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RNF5 | SLC38A7 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SLC38A7 | TMPRSS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | SPINT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | SLC6A15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | SAR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | EBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | HHLA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | MUC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | EVI2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | TSPAN8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | LYVE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC38A7 | SHISAL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (101): SLC38A7 (Two-hybrid), SLC38A7 (Affinity Capture-MS), SLC38A7 (Affinity Capture-MS), TCEA1 (Affinity Capture-MS), SLC38A7 (Affinity Capture-MS), SLC38A7 (Affinity Capture-MS), GGA1 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), ETF1 (Affinity Capture-MS), VRK1 (Affinity Capture-MS), ACTL6B (Affinity Capture-MS), SLC38A7 (Two-hybrid), SLC38A7 (Two-hybrid), SLC38A7 (Two-hybrid), SLC38A7 (Two-hybrid)
ESM2 similar proteins: A1YG32, A2VCW5, A2VE31, A6NNN8, A7E3U5, A8KBL5, D3Z813, F4KBM7, G3UVW3, O80668, P40074, Q08AI6, Q0WQJ3, Q28HE5, Q28I47, Q3U1J0, Q3USY0, Q503G8, Q5E9S9, Q5EA97, Q5F468, Q5HZH7, Q5R443, Q5R9F5, Q5RE87, Q5SPB1, Q5XH90, Q6DEL1, Q6DFE7, Q6JWR2, Q6WWW3, Q8BWH0, Q8CFE6, Q8HXI3, Q8IZM9, Q8K2P7, Q8R1S9, Q8WUX1, Q969I6, Q96QD8
Diamond homologs: A6NNN8, A7E3U5, Q28I47, Q5HZH7, Q5R9F5, Q5RE87, Q6DEL1, Q6DFE7, Q6JWR2, Q8BWH0, Q969I6, Q9NVC3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1895 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:58667483:ACCAG:A | acceptor_gain | 1.0000 |
| 16:58667484:CCAG:C | acceptor_gain | 1.0000 |
| 16:58667484:CCAGC:C | acceptor_gain | 1.0000 |
| 16:58667485:CAGC:C | acceptor_gain | 1.0000 |
| 16:58667486:AG:A | acceptor_gain | 1.0000 |
| 16:58667488:C:CC | acceptor_gain | 1.0000 |
| 16:58670112:CCTGG:C | donor_gain | 1.0000 |
| 16:58670163:CAGCC:C | acceptor_gain | 1.0000 |
| 16:58670165:GCCC:G | acceptor_loss | 1.0000 |
| 16:58670166:CC:C | acceptor_gain | 1.0000 |
| 16:58670166:CCCTG:C | acceptor_loss | 1.0000 |
| 16:58670167:CC:C | acceptor_gain | 1.0000 |
| 16:58670167:CCTG:C | acceptor_loss | 1.0000 |
| 16:58670168:C:A | acceptor_loss | 1.0000 |
| 16:58670168:C:CC | acceptor_gain | 1.0000 |
| 16:58671039:CCGCA:C | donor_loss | 1.0000 |
| 16:58671040:CGCA:C | donor_loss | 1.0000 |
| 16:58671041:GCAC:G | donor_loss | 1.0000 |
| 16:58671042:CA:C | donor_loss | 1.0000 |
| 16:58671044:C:A | donor_loss | 1.0000 |
| 16:58671240:CCGCC:C | acceptor_gain | 1.0000 |
| 16:58671241:CGCCC:C | acceptor_gain | 1.0000 |
| 16:58671243:CC:C | acceptor_gain | 1.0000 |
| 16:58671244:CC:C | acceptor_gain | 1.0000 |
| 16:58672094:ACCGC:A | donor_gain | 1.0000 |
| 16:58672095:CCGCC:C | donor_gain | 1.0000 |
| 16:58672239:GATGC:G | acceptor_gain | 1.0000 |
| 16:58672240:ATGC:A | acceptor_gain | 1.0000 |
| 16:58672241:TGC:T | acceptor_gain | 1.0000 |
| 16:58672242:GC:G | acceptor_gain | 1.0000 |
AlphaMissense
3002 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:58676298:G:C | F253L | 1.000 |
| 16:58676298:G:T | F253L | 1.000 |
| 16:58676300:A:G | F253L | 1.000 |
| 16:58678736:G:C | C143W | 1.000 |
| 16:58679918:A:T | L70H | 1.000 |
| 16:58679931:C:G | G66R | 1.000 |
| 16:58667428:C:T | G449D | 0.999 |
| 16:58667443:C:T | G444E | 0.999 |
| 16:58667444:C:G | G444R | 0.999 |
| 16:58667444:C:T | G444R | 0.999 |
| 16:58667465:C:G | G437R | 0.999 |
| 16:58667465:C:T | G437R | 0.999 |
| 16:58670158:A:G | L414P | 0.999 |
| 16:58670160:G:C | C413W | 0.999 |
| 16:58670162:A:G | C413R | 0.999 |
| 16:58671045:C:G | G411R | 0.999 |
| 16:58671045:C:T | G411R | 0.999 |
| 16:58671047:G:T | P410Q | 0.999 |
| 16:58671080:C:T | G399E | 0.999 |
| 16:58671081:C:G | G399R | 0.999 |
| 16:58671081:C:T | G399R | 0.999 |
| 16:58671147:A:G | W377R | 0.999 |
| 16:58671147:A:T | W377R | 0.999 |
| 16:58672099:C:T | G343E | 0.999 |
| 16:58672100:C:A | G343W | 0.999 |
| 16:58672100:C:G | G343R | 0.999 |
| 16:58672100:C:T | G343R | 0.999 |
| 16:58672102:C:T | C342Y | 0.999 |
| 16:58672117:G:C | P337R | 0.999 |
| 16:58672117:G:T | P337H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000099399 (16:58667152 T>A,C), RS1000168079 (16:58675416 G>A), RS1000197987 (16:58670913 G>A), RS1000206610 (16:58670599 C>T), RS1001420860 (16:58665744 G>A), RS1001532089 (16:58684138 G>A), RS1001542193 (16:58683904 G>A), RS1001545382 (16:58676713 G>A,C), RS1001813601 (16:58684558 CT>C), RS1001823767 (16:58670029 C>A,G,T), RS1002107650 (16:58670371 C>A), RS1002108567 (16:58682347 C>T), RS1002135025 (16:58673863 T>TC), RS1002229999 (16:58673666 T>A,C,G), RS1002269237 (16:58665333 T>C)
Disease associations
OMIM: gene MIM:614236 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000363_9 | QT interval | 3.000000e-25 |
| GCST002539_83 | Schizophrenia | 2.000000e-08 |
| GCST006803_60 | Schizophrenia | 2.000000e-10 |
| GCST007664_17 | Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer | 4.000000e-08 |
| GCST007664_18 | Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer | 5.000000e-08 |
| GCST007664_19 | Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer | 5.000000e-08 |
| GCST007664_20 | Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer | 6.000000e-08 |
| GCST007664_36 | Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer | 2.000000e-08 |
| GCST007664_47 | Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer | 7.000000e-08 |
| GCST011743_5 | HDL cholesterol levels in HIV infection | 5.000000e-06 |
| GCST012279_14 | Suicide attempt severity in mood disorders | 8.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004682 | QT interval |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0006882 | suicide behaviour measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067118 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Orphan SLC38 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 |
|---|---|---|---|---|
| 5.82 | Kd | 1506 | nM | CHEMBL5653589 |
| 5.82 | ED50 | 1506 | 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 | 2149422: Binding affinity to human SLC38A7 incubated for 45 mins by Kinobead based pull down assay | kd | 1.5064 | uM |
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, increases expression, affects cotreatment, decreases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| dicrotophos | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CD 437 | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | affects response to substance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 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 |
|---|---|---|---|
| CHEMBL5652464 | Binding | Binding affinity to human SLC38A7 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
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4N6 | HCT116-SLC38A7-KO-c1 | Cancer cell line | Male |
| CVCL_D4N7 | HCT116-SLC38A7-KO-c22 | Cancer cell line | Male |
| CVCL_E0NX | Ubigene HeLa SLC38A7 KO | Cancer cell line | Female |
| CVCL_TN47 | HAP1 SLC38A7 (-) | 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.