SLC2A13
geneOn this page
Also known as HMIT
Summary
SLC2A13 (solute carrier family 2 member 13, HGNC:15956) is a protein-coding gene on chromosome 12q12, encoding Proton myo-inositol cotransporter (Q96QE2). H(+)-myo-inositol cotransporter.
Enables ATPase binding activity; myo-inositol:proton symporter activity; and protease binding activity. Involved in myo-inositol transport and positive regulation of amyloid-beta formation. Located in cell body; cell projection; and plasma membrane.
Source: NCBI Gene 114134 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 37 total
- MANE Select transcript:
NM_052885
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15956 |
| Approved symbol | SLC2A13 |
| Name | solute carrier family 2 member 13 |
| Location | 12q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HMIT |
| Ensembl gene | ENSG00000151229 |
| Ensembl biotype | protein_coding |
| OMIM | 611036 |
| Entrez | 114134 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron
ENST00000280871, ENST00000380858, ENST00000465517, ENST00000505338, ENST00000858171, ENST00000858172, ENST00000858173, ENST00000957640
RefSeq mRNA: 1 — MANE Select: NM_052885
NM_052885
CCDS: CCDS8736
Canonical transcript exons
ENST00000280871 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000998418 | 40105253 | 40106081 |
| ENSE00001098382 | 40028301 | 40028509 |
| ENSE00001098384 | 40048051 | 40048210 |
| ENSE00001182811 | 39764460 | 39764612 |
| ENSE00001182813 | 39764737 | 39764858 |
| ENSE00001182822 | 39871798 | 39871961 |
| ENSE00001182824 | 39951257 | 39951365 |
| ENSE00001228394 | 39830103 | 39830228 |
| ENSE00001929605 | 39755025 | 39760252 |
| ENSE00003664771 | 39864762 | 39864882 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 99.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4316 / max 79.5867, expressed in 1577 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130462 | 6.1483 | 1565 |
| 130461 | 0.2833 | 119 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 99.36 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.96 | gold quality |
| endothelial cell | CL:0000115 | 98.14 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.11 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.98 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.95 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.92 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.09 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.84 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.83 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.82 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.53 | gold quality |
| parietal lobe | UBERON:0001872 | 94.07 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.50 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.97 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.82 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.79 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.59 | gold quality |
| caput epididymis | UBERON:0004358 | 91.37 | gold quality |
| occipital lobe | UBERON:0002021 | 91.31 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.29 | gold quality |
| jejunal mucosa | UBERON:0000399 | 91.11 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.06 | gold quality |
| globus pallidus | UBERON:0001875 | 91.00 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.98 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.61 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.89 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 88.15 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 87.87 | gold quality |
| renal medulla | UBERON:0000362 | 87.66 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 8.39 |
| E-ANND-3 | yes | 5.57 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
345 targeting SLC2A13, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
Literature-anchored findings (GeneRIF, showing 5)
- genetic alterations of TSPAN14, SLC2A13 and PHF20 could play a role in non-small-cell lung cancer promotion (PMID:19473719)
- HMIT is primarily a neuronal transporter widely expressed in the rat and human brain, with particularly high levels in the hippocampus and cortex, as shown by immunohistochemistry. (PMID:19607714)
- SLC2A13 is a novel gamma-secretase associated protein that regulates amyloid beta production without affecting Notch cleavage. (PMID:26094765)
- Our study revealed that both BDKRB2 and TENM2 genetic polymorphisms were interrogated in relation to anti-tuberculosis drug induced liver injury (ATDILI) susceptibility and some laboratory indicators in the Western Chinese Han population, shedding a new light on exploring novel biomarkers and targets for ATDILI. (PMID:31689868)
- The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia. (PMID:31918632)
Cross-species orthologs
38 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc2a13b | ENSDARG00000076899 |
| danio_rerio | SLC2A13 | ENSDARG00000087867 |
| mus_musculus | Slc2a13 | ENSMUSG00000036298 |
| rattus_norvegicus | Slc2a13 | ENSRNOG00000015741 |
| drosophila_melanogaster | Glut3 | FBGN0015230 |
| drosophila_melanogaster | sut4 | FBGN0028560 |
| drosophila_melanogaster | sut3 | FBGN0028561 |
| drosophila_melanogaster | sut2 | FBGN0028562 |
| drosophila_melanogaster | sut1 | FBGN0028563 |
| drosophila_melanogaster | CG4607 | FBGN0029932 |
| drosophila_melanogaster | CG15406 | FBGN0031517 |
| drosophila_melanogaster | CG8837 | FBGN0031520 |
| drosophila_melanogaster | CG3285 | FBGN0031522 |
| drosophila_melanogaster | CG15408 | FBGN0031523 |
| drosophila_melanogaster | CG7882 | FBGN0033047 |
| drosophila_melanogaster | Tret1-2 | FBGN0033644 |
| drosophila_melanogaster | CG8249 | FBGN0034045 |
| drosophila_melanogaster | CG6484 | FBGN0034247 |
| drosophila_melanogaster | nebu | FBGN0036316 |
| drosophila_melanogaster | CG14606 | FBGN0037485 |
| drosophila_melanogaster | CG14605 | FBGN0037486 |
| drosophila_melanogaster | CG6901 | FBGN0038414 |
| drosophila_melanogaster | CG17929 | FBGN0038415 |
| drosophila_melanogaster | CG17930 | FBGN0038416 |
| drosophila_melanogaster | Tret1-1 | FBGN0050035 |
| drosophila_melanogaster | CG33281 | FBGN0053281 |
| drosophila_melanogaster | CG33282 | FBGN0053282 |
| caenorhabditis_elegans | WBGENE00010684 | |
| caenorhabditis_elegans | WBGENE00010811 | |
| caenorhabditis_elegans | WBGENE00012536 | |
| caenorhabditis_elegans | WBGENE00013074 | |
| caenorhabditis_elegans | WBGENE00016431 | |
| caenorhabditis_elegans | WBGENE00017382 | |
| caenorhabditis_elegans | WBGENE00019547 | |
| caenorhabditis_elegans | WBGENE00019548 | |
| caenorhabditis_elegans | WBGENE00019549 | |
| caenorhabditis_elegans | WBGENE00019550 | |
| caenorhabditis_elegans | WBGENE00043980 |
Paralogs (13): SLC2A3 (ENSG00000059804), SLC2A9 (ENSG00000109667), SLC2A1 (ENSG00000117394), SLC2A11 (ENSG00000133460), SLC2A8 (ENSG00000136856), SLC2A5 (ENSG00000142583), SLC2A12 (ENSG00000146411), SLC2A6 (ENSG00000160326), SLC2A2 (ENSG00000163581), SLC2A14 (ENSG00000173262), SLC2A4 (ENSG00000181856), SLC2A7 (ENSG00000197241), SLC2A10 (ENSG00000197496)
Protein
Protein identifiers
Proton myo-inositol cotransporter — Q96QE2 (reviewed: Q96QE2)
Alternative names: H(+)-myo-inositol symporter, Solute carrier family 2 member 13
All UniProt accessions (2): Q96QE2, E9PE47
UniProt curated annotations — full annotation on UniProt →
Function. H(+)-myo-inositol cotransporter. Can also transport related stereoisomers.
Subcellular location. Cell membrane.
Tissue specificity. Predominantly expressed in the brain.
Post-translational modifications. Glycosylated.
Induction. Induced by hyperosmotic stress.
Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.
RefSeq proteins (1): NP_443117* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003663 | Sugar/inositol_transpt | Family |
| IPR005828 | MFS_sugar_transport-like | Family |
| IPR005829 | Sugar_transporter_CS | Conserved_site |
| IPR020846 | MFS_dom | Domain |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR050814 | Myo-inositol_Transporter | Family |
Pfam: PF00083
Catalyzed reactions (Rhea), 1 shown:
- myo-inositol(out) + H(+)(out) = myo-inositol(in) + H(+)(in) (RHEA:60364)
UniProt features (34 total): topological domain 13, transmembrane region 12, modified residue 5, glycosylation site 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96QE2-F1 | 80.34 | 0.48 |
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 (5): 6, 47, 50, 640, 645
Glycosylation sites (3): 433, 458, 485
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-429593 | Inositol transporters |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425366 | |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 203 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_POSITIVE_REGULATION_OF_AMIDE_METABOLIC_PROCESS, chr12q12, TGACCTY_ERR1_Q2, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GTGCCTT_MIR506, GOBP_REGULATION_OF_AMYLOID_PRECURSOR_PROTEIN_CATABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOCC_APICAL_PLASMA_MEMBRANE, AACTTT_UNKNOWN, GOBP_REGULATION_OF_AMIDE_METABOLIC_PROCESS, GOBP_AMYLOID_PRECURSOR_PROTEIN_METABOLIC_PROCESS, GOCC_NEURON_PROJECTION
GO Biological Process (4): myo-inositol transport (GO:0015798), transmembrane transport (GO:0055085), transport across blood-brain barrier (GO:0150104), positive regulation of amyloid-beta formation (GO:1902004)
GO Molecular Function (6): protease binding (GO:0002020), myo-inositol transmembrane transporter activity (GO:0005365), myo-inositol:proton symporter activity (GO:0005366), ATPase binding (GO:0051117), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)
GO Cellular Component (11): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), apical plasma membrane (GO:0016324), growth cone (GO:0030426), organelle membrane (GO:0031090), cell projection (GO:0042995), cell body (GO:0044297), cell periphery (GO:0071944), astrocyte end-foot (GO:0097450)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transmembrane transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| enzyme binding | 2 |
| membrane | 2 |
| organic hydroxy compound transport | 1 |
| transport | 1 |
| cellular process | 1 |
| vascular transport | 1 |
| amyloid-beta formation | 1 |
| regulation of amyloid-beta formation | 1 |
| positive regulation of amyloid precursor protein catabolic process | 1 |
| polyol transmembrane transporter activity | 1 |
| myo-inositol transport | 1 |
| myo-inositol transmembrane transporter activity | 1 |
| solute:proton symporter activity | 1 |
| binding | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cell periphery | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| membrane-bounded organelle | 1 |
| astrocyte projection | 1 |
Protein interactions and networks
STRING
2016 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC2A13 | SLC5A3 | P53794 | 725 |
| SLC2A13 | H7C1H1 | H7C1H1 | 678 |
| SLC2A13 | SLC5A11 | Q8WWX8 | 593 |
| SLC2A13 | TMEM117 | Q9H0C3 | 516 |
| SLC2A13 | ISYNA1 | Q9NPH2 | 477 |
| SLC2A13 | MIOX | Q9UGB7 | 467 |
| SLC2A13 | FRMPD1 | Q5SYB0 | 449 |
| SLC2A13 | SLC50A1 | Q9BRV3 | 449 |
| SLC2A13 | KBTBD12 | Q3ZCT8 | 440 |
| SLC2A13 | SLC5A1 | P13866 | 435 |
| SLC2A13 | TMEM51 | Q9NW97 | 434 |
| SLC2A13 | CPNE5 | Q9HCH3 | 425 |
| SLC2A13 | TMEM161B | Q8NDZ6 | 424 |
| SLC2A13 | RAB28 | P51157 | 422 |
| SLC2A13 | SLC5A4 | Q9NY91 | 413 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYP4F2 | SLC2A13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC2A13 | RIC8A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC2A13 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| PLP2 | SLC2A13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC2A13 | OPTN | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCR3LG1 | PEDS1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A13 | RIOK3 | psi-mi:“MI:0914”(association) | 0.350 |
| FECH | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A13 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| PSEN1 | SLC2A13 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CYP4F2 | SLC2A13 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC2A13 | RIC8A | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLP2 | SLC2A13 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC2A13 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (29): SLC2A13 (Affinity Capture-RNA), SLC2A13 (Two-hybrid), RIC8A (Two-hybrid), CYP4F2 (Two-hybrid), FXYD6-FXYD2 (Two-hybrid), SLC2A13 (Proximity Label-MS), SLC2A13 (Proximity Label-MS), SLC2A13 (Affinity Capture-MS), BLK (Affinity Capture-MS), RIOK3 (Affinity Capture-MS), ATG9A (Affinity Capture-MS), SLC2A13 (PCA), SLC2A13 (Affinity Capture-MS), ABCB7 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS)
ESM2 similar proteins: A4FV52, A6QLI1, O00476, O00624, O61369, O62786, P34272, P34644, P38142, Q03567, Q05B21, Q10046, Q14916, Q1L8X9, Q21455, Q28722, Q2QWW7, Q32LF0, Q3TXX4, Q3UHK1, Q5NCM1, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q66KG0, Q6INC8, Q7TSF2, Q7ZX53, Q8BFU8, Q8BLE7, Q8NDX2, Q921A2, Q95R48, Q961J5, Q96QE2, Q9C757, Q9FKV1
Diamond homologs: A0A0H2VG78, A0A1D8PH98, A9ZSY3, B4HNS1, B4QBN3, C0SPB2, F1R0H0, J9VHZ4, O04249, O23492, O34718, O52733, O62786, O62787, O65413, P0AE24, P0AE25, P0AEP1, P0AEP2, P0AGF4, P0AGF5, P11166, P11167, P11169, P12336, P13355, P14246, P15686, P15729, P17809, P23586, P27674, P30605, P30606, P32037, P39924, P45598, P46333, P46896, P47185
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3444 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:39760071:T:TA | donor_gain | 1.0000 |
| 12:39760072:C:A | donor_gain | 1.0000 |
| 12:39760101:C:CA | donor_gain | 1.0000 |
| 12:39760135:AG:A | donor_gain | 1.0000 |
| 12:39760162:T:A | donor_gain | 1.0000 |
| 12:39764454:TCTTA:T | donor_loss | 1.0000 |
| 12:39764455:CTTA:C | donor_loss | 1.0000 |
| 12:39764456:TTA:T | donor_loss | 1.0000 |
| 12:39764457:TACCA:T | donor_loss | 1.0000 |
| 12:39764458:A:AC | donor_gain | 1.0000 |
| 12:39764458:A:AT | donor_loss | 1.0000 |
| 12:39764459:C:CA | donor_loss | 1.0000 |
| 12:39764459:C:CC | donor_gain | 1.0000 |
| 12:39764608:CATTC:C | acceptor_gain | 1.0000 |
| 12:39764610:TTC:T | acceptor_gain | 1.0000 |
| 12:39764610:TTCC:T | acceptor_loss | 1.0000 |
| 12:39764611:TCCT:T | acceptor_loss | 1.0000 |
| 12:39764612:CCTG:C | acceptor_loss | 1.0000 |
| 12:39764613:C:CC | acceptor_gain | 1.0000 |
| 12:39764614:T:A | acceptor_loss | 1.0000 |
| 12:39951255:A:AC | donor_gain | 1.0000 |
| 12:39951256:C:CC | donor_gain | 1.0000 |
| 12:39951371:T:TC | acceptor_gain | 1.0000 |
| 12:40015750:A:T | acceptor_gain | 1.0000 |
| 12:40028298:TA:T | donor_loss | 1.0000 |
| 12:40028505:TGTAC:T | acceptor_gain | 1.0000 |
| 12:40028507:TAC:T | acceptor_gain | 1.0000 |
| 12:40028508:ACCT:A | acceptor_loss | 1.0000 |
| 12:40028509:CCTG:C | acceptor_loss | 1.0000 |
| 12:40028510:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
4179 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:39764549:C:T | G544E | 1.000 |
| 12:40028440:G:C | S262R | 1.000 |
| 12:40028440:G:T | S262R | 1.000 |
| 12:40028442:T:G | S262R | 1.000 |
| 12:40048053:C:A | W238C | 1.000 |
| 12:40048053:C:G | W238C | 1.000 |
| 12:40048055:A:G | W238R | 1.000 |
| 12:40048055:A:T | W238R | 1.000 |
| 12:39764491:A:C | F563L | 0.999 |
| 12:39764491:A:T | F563L | 0.999 |
| 12:39764493:A:G | F563L | 0.999 |
| 12:39764512:A:C | N556K | 0.999 |
| 12:39764512:A:T | N556K | 0.999 |
| 12:39764550:C:G | G544R | 0.999 |
| 12:39764550:C:T | G544R | 0.999 |
| 12:39764554:A:C | S542R | 0.999 |
| 12:39764554:A:T | S542R | 0.999 |
| 12:39764556:T:G | S542R | 0.999 |
| 12:39764557:T:A | R541S | 0.999 |
| 12:39764557:T:G | R541S | 0.999 |
| 12:39764558:C:G | R541T | 0.999 |
| 12:39764574:A:C | Y536D | 0.999 |
| 12:39764576:A:T | I535K | 0.999 |
| 12:39764583:A:G | S533P | 0.999 |
| 12:39764584:A:C | N532K | 0.999 |
| 12:39764584:A:T | N532K | 0.999 |
| 12:39764595:A:G | W529R | 0.999 |
| 12:39764595:A:T | W529R | 0.999 |
| 12:39764612:C:T | G523E | 0.999 |
| 12:39871805:A:C | S397R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003797 (12:40032605 G>C,T), RS1000004098 (12:39955604 A>C), RS1000015162 (12:39870238 A>G), RS1000027485 (12:40051458 T>C), RS1000051362 (12:39919241 T>C), RS1000056435 (12:39940028 C>T), RS1000065459 (12:40106111 C>G,T), RS1000069591 (12:40052500 T>A), RS1000079975 (12:39913863 T>TA), RS1000081012 (12:39785237 C>G), RS1000082162 (12:40004206 T>C), RS1000082720 (12:39962153 A>C,G), RS1000084068 (12:39845009 T>C), RS1000086472 (12:39956982 T>C), RS1000108457 (12:39940410 A>T)
Disease associations
OMIM: gene MIM:611036 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001430_13 | Parkinson’s disease | 1.000000e-06 |
| GCST002049_2 | Sleep quality | 3.000000e-06 |
| GCST002052_1 | Insomnia | 2.000000e-06 |
| GCST002097_37 | Coronary artery calcification | 4.000000e-06 |
| GCST003518_35 | Daytime sleep phenotypes | 8.000000e-07 |
| GCST003922_3 | Parkinson’s disease | 8.000000e-12 |
| GCST004131_46 | Inflammatory bowel disease | 3.000000e-15 |
| GCST004132_23 | Crohn’s disease | 6.000000e-20 |
| GCST008438_4 | Alzheimer’s disease in hypertension | 3.000000e-06 |
| GCST009262_5 | Putamen volume | 3.000000e-06 |
| GCST009526_3 | Disability (impaired activities of daily living) | 9.000000e-06 |
| GCST010991_15 | Parkinson’s disease | 7.000000e-26 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007876 | insomnia measurement |
| EFO:0004723 | coronary artery calcification |
| EFO:0007828 | daytime rest measurement |
| EFO:0008451 | activities of daily living score measurement |
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 — Proton-coupled inositol transporter
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 9 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| bisphenol A | increases expression, affects cotreatment, increases methylation | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| terbufos | decreases methylation | 1 |
| cinnamaldehyde | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| N-(1,3-dimethylbutyl)-N’-phenyl-1,4-phenylenediamine | affects response to substance | 1 |
| manganese chloride | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4L6 | HCT116-SLC2A13-KO-c10 | Cancer cell line | Male |
| CVCL_D4L7 | HCT116-SLC2A13-KO-c7 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Parkinson disease