SLC16A10
gene geneOn this page
Also known as TAT1MCT10
Summary
SLC16A10 (solute carrier family 16 member 10, HGNC:17027) is a protein-coding gene on chromosome 6q21, encoding Monocarboxylate transporter 10 (Q8TF71). Sodium- and proton-independent thyroid hormones and aromatic acids transporter.
SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.
Source: NCBI Gene 117247 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 68 total
- MANE Select transcript:
NM_018593
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17027 |
| Approved symbol | SLC16A10 |
| Name | solute carrier family 16 member 10 |
| Location | 6q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TAT1, MCT10 |
| Ensembl gene | ENSG00000112394 |
| Ensembl biotype | protein_coding |
| OMIM | 607550 |
| Entrez | 117247 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000368850, ENST00000368851, ENST00000419619, ENST00000439288, ENST00000465319, ENST00000888692
RefSeq mRNA: 1 — MANE Select: NM_018593
NM_018593
CCDS: CCDS5089
Canonical transcript exons
ENST00000368851 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000762036 | 111218814 | 111219042 |
| ENSE00003323161 | 111222003 | 111231194 |
| ENSE00003617357 | 111172695 | 111172839 |
| ENSE00003618898 | 111177212 | 111177665 |
| ENSE00003730926 | 111087503 | 111088095 |
| ENSE00003756754 | 111206592 | 111206735 |
Expression profiles
Bgee: expression breadth ubiquitous, 201 present calls, max score 89.69.
FANTOM5 (CAGE): breadth broad, TPM avg 2.5658 / max 148.4644, expressed in 713 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 69272 | 2.1104 | 624 |
| 69271 | 0.4554 | 290 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 89.69 | gold quality |
| muscle of leg | UBERON:0001383 | 88.05 | gold quality |
| secondary oocyte | CL:0000655 | 87.93 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.64 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 87.47 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.42 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 87.14 | gold quality |
| biceps brachii | UBERON:0001507 | 86.73 | gold quality |
| muscle organ | UBERON:0001630 | 86.71 | gold quality |
| duodenum | UBERON:0002114 | 86.19 | gold quality |
| vastus lateralis | UBERON:0001379 | 86.12 | gold quality |
| jejunal mucosa | UBERON:0000399 | 85.97 | gold quality |
| mammalian vulva | UBERON:0000997 | 85.27 | gold quality |
| body of pancreas | UBERON:0001150 | 85.18 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.06 | gold quality |
| quadriceps femoris | UBERON:0001377 | 84.70 | silver quality |
| choroid plexus epithelium | UBERON:0003911 | 82.40 | gold quality |
| upper leg skin | UBERON:0004262 | 82.34 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 81.66 | gold quality |
| deltoid | UBERON:0001476 | 81.16 | silver quality |
| pancreas | UBERON:0001264 | 80.09 | gold quality |
| penis | UBERON:0000989 | 79.71 | gold quality |
| oocyte | CL:0000023 | 79.31 | gold quality |
| amniotic fluid | UBERON:0000173 | 78.90 | gold quality |
| placenta | UBERON:0001987 | 77.85 | gold quality |
| jejunum | UBERON:0002115 | 77.63 | gold quality |
| skin of leg | UBERON:0001511 | 77.60 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.37 | gold quality |
| skin of hip | UBERON:0001554 | 77.17 | gold quality |
| muscle tissue | UBERON:0002385 | 76.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.49 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
94 targeting SLC16A10, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
Literature-anchored findings (GeneRIF, showing 13)
- MCT10 is at least as active a thyroid hormone transporter as hMCT8, and that both transporters facilitate iodothyronine uptake as well as efflux. (PMID:18337592)
- Increased MCT8 and decreased MCT10 expression within placentae of pregnancies complicated by IUGR may contribute to aberrant development of the fetoplacental unit. (PMID:20167367)
- monocarboxylate transporter 10 facilitates bromoacetyl [(125)I] iodothyronine transport, but is not labeled by it (PMID:21315799)
- Compared with the adult cerebral cortex, mRNAs encoding OATP1A2, OATP1C1, OATP3A1 variant 2, OATP4A1, LAT2 and CD98 were reduced in fetal cortex at different gestational ages, whilst mRNAs encoding MCT8, MCT10, OATP3A1 variant 1 and LAT1 were similar. (PMID:21486766)
- The strong expression of MCT10 and OATP1C1 in the human hypothalamus indicates a possible role in the regulation of the hypothalamus-pituitary-thyroid axis. (PMID:21508134)
- High TAT1 expression is associated with metastasis and recurrence in endometrial cancer. (PMID:26779635)
- the aim of this study was to examine if MCT8 and MCT10 increase the availability of triiodothyronine for its nuclear receptor. (PMID:27492966)
- In the MCT10 modeled structure, N81 appeared to protrude into the putative trajectory of tryptophan. (PMID:28754537)
- Molecular predictor of TaT1 patients. (PMID:31595333)
- Single Nucleotide Polymorphisms in Thyroid Hormone Transporter Genes MCT8, MCT10 and Deiodinase DIO2 Contribute to Inter-Individual Variance of Executive Functions and Personality Traits. (PMID:31820424)
- Association of DIO2 and MCT10 Polymorphisms With Persistent Symptoms in LT4-Treated Patients in the UK Biobank. (PMID:37740545)
- MiR-21-5p modulates LPS-induced acute injury in alveolar epithelial cells by targeting SLC16A10. (PMID:38750066)
- The circular RNA circSLC16A10 alleviates diabetic retinopathy by improving mitochondrial function via the miR-761-5p/MFN2 axis. (PMID:38960059)
Cross-species orthologs
17 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc16a10 | ENSDARG00000020984 |
| mus_musculus | Slc16a10 | ENSMUSG00000019838 |
| rattus_norvegicus | Slc16a10 | ENSRNOG00000000588 |
| drosophila_melanogaster | Mct1 | FBGN0023549 |
| drosophila_melanogaster | CG14196 | FBGN0031002 |
| drosophila_melanogaster | CG8051 | FBGN0031012 |
| drosophila_melanogaster | Sln | FBGN0033657 |
| drosophila_melanogaster | CG8468 | FBGN0033913 |
| drosophila_melanogaster | Targ | FBGN0033955 |
| drosophila_melanogaster | CG13907 | FBGN0035173 |
| drosophila_melanogaster | out | FBGN0259834 |
| caenorhabditis_elegans | WBGENE00003986 | |
| caenorhabditis_elegans | WBGENE00010834 | |
| caenorhabditis_elegans | WBGENE00015273 | |
| caenorhabditis_elegans | WBGENE00015676 | |
| caenorhabditis_elegans | WBGENE00020168 | |
| caenorhabditis_elegans | WBGENE00021227 |
Paralogs (13): SLC16A8 (ENSG00000100156), SLC16A6 (ENSG00000108932), SLC16A7 (ENSG00000118596), SLC16A3 (ENSG00000141526), SLC16A2 (ENSG00000147100), SLC16A12 (ENSG00000152779), SLC16A1 (ENSG00000155380), SLC16A14 (ENSG00000163053), SLC16A9 (ENSG00000165449), SLC16A4 (ENSG00000168679), SLC16A5 (ENSG00000170190), SLC16A11 (ENSG00000174326), SLC16A13 (ENSG00000174327)
Protein
Protein identifiers
Monocarboxylate transporter 10 — Q8TF71 (reviewed: Q8TF71)
Alternative names: Aromatic amino acid transporter 1, Solute carrier family 16 member 10, T-type amino acid transporter 1
All UniProt accessions (4): Q8TF71, H0Y3W8, H0Y5M8, Q9P1I2
UniProt curated annotations — full annotation on UniProt →
Function. Sodium- and proton-independent thyroid hormones and aromatic acids transporter. Mediates both uptake and efflux of 3,5,3’-triiodothyronine (T3) and 3,5,3’,5’-tetraiodothyronine (T4) with high affinity, suggesting a role in the homeostasis of thyroid hormone levels. Responsible for low affinity bidirectional transport of the aromatic amino acids, such as phenylalanine, tyrosine, tryptophan and L-3,4-dihydroxyphenylalanine (L-dopa). Plays an important role in homeostasis of aromatic amino acids.
Subcellular location. Cell membrane. Basolateral cell membrane.
Tissue specificity. Strongly expressed in kidney and skeletal muscle and at lower level in placenta and heart.
Post-translational modifications. Not N-glycosylated.
Similarity. Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
RefSeq proteins (1): NP_061063* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011701 | MFS | Family |
| IPR020846 | MFS_dom | Domain |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR050327 | Proton-linked_MCT | Family |
Pfam: PF07690
Catalyzed reactions (Rhea), 5 shown:
- L-phenylalanine(in) = L-phenylalanine(out) (RHEA:27950)
- L-tyrosine(in) = L-tyrosine(out) (RHEA:68572)
- L-tryptophan(in) = L-tryptophan(out) (RHEA:70947)
- 3,3’,5-triiodo-L-thyronine(out) = 3,3’,5-triiodo-L-thyronine(in) (RHEA:71811)
- L-thyroxine(out) = L-thyroxine(in) (RHEA:71819)
UniProt features (40 total): topological domain 13, transmembrane region 12, modified residue 5, sequence conflict 4, compositionally biased region 2, chain 1, region of interest 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9HHQ | ELECTRON MICROSCOPY | 3.5 |
| 9GSZ | ELECTRON MICROSCOPY | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TF71-F1 | 82.57 | 0.65 |
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): 263, 498, 501, 503, 504
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 81 | does not affect subcellular localization. abolishes tryptophan import activity. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-352230 | Amino acid transport across the plasma membrane |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425393 | |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 228 (showing top):
GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, PAX4_01, ATACCTC_MIR202, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_ORGANIC_ACID_TRANSPORT, MODULE_206, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SECRETION, GOBP_SIGNAL_RELEASE, CHIANG_LIVER_CANCER_SUBCLASS_INTERFERON_DN
GO Biological Process (11): thyroid hormone generation (GO:0006590), amino acid transport (GO:0006865), aromatic amino acid transport (GO:0015801), thyroid hormone transport (GO:0070327), thyroid-stimulating hormone secretion (GO:0070460), amino acid transmembrane transport (GO:0003333), phenylalanine transport (GO:0015823), tryptophan transport (GO:0015827), tyrosine transport (GO:0015828), transmembrane transport (GO:0055085), carboxylic acid transmembrane transport (GO:1905039)
GO Molecular Function (9): L-tyrosine transmembrane transporter activity (GO:0005302), amino acid transmembrane transporter activity (GO:0015171), aromatic amino acid transmembrane transporter activity (GO:0015173), L-phenylalanine transmembrane transporter activity (GO:0015192), L-tryptophan transmembrane transporter activity (GO:0015196), thyroid hormone transmembrane transporter activity (GO:0015349), transmembrane transporter activity (GO:0022857), protein binding (GO:0005515), carboxylic acid transmembrane transporter activity (GO:0046943)
GO Cellular Component (4): plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), cell junction (GO:0030054), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transport of amino acids | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| carboxylic acid transport | 3 |
| transmembrane transport | 3 |
| aromatic amino acid transport | 3 |
| aromatic amino acid transmembrane transporter activity | 3 |
| L-amino acid transmembrane transporter activity | 3 |
| transport | 2 |
| nitrogen compound transport | 2 |
| amino acid transport | 2 |
| transmembrane transporter activity | 2 |
| cellular anatomical structure | 2 |
| thyroid hormone metabolic process | 1 |
| hormone transport | 1 |
| peptide hormone secretion | 1 |
| L-amino acid transport | 1 |
| cellular process | 1 |
| tyrosine transport | 1 |
| amino acid transmembrane transport | 1 |
| carboxylic acid transmembrane transporter activity | 1 |
| phenylalanine transport | 1 |
| tryptophan transport | 1 |
| secondary active transmembrane transporter activity | 1 |
| thyroid hormone transport | 1 |
| transporter activity | 1 |
| binding | 1 |
| carboxylic acid transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| basal plasma membrane | 1 |
| plasma membrane region | 1 |
Protein interactions and networks
STRING
728 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC16A10 | SLCO1C1 | Q9NYB5 | 825 |
| SLC16A10 | SLC7A8 | Q9UHI5 | 695 |
| SLC16A10 | DIO2 | Q92813 | 641 |
| SLC16A10 | SLCO4A1 | Q96BD0 | 601 |
| SLC16A10 | SLC7A5 | Q01650 | 579 |
| SLC16A10 | SLCO1A2 | P46721 | 574 |
| SLC16A10 | SLC43A2 | Q8N370 | 556 |
| SLC16A10 | SLC7A6 | Q92536 | 545 |
| SLC16A10 | THRB | P10828 | 532 |
| SLC16A10 | MCTS1 | Q9ULC4 | 522 |
| SLC16A10 | THRA | P10827 | 514 |
| SLC16A10 | SLC7A9 | P82251 | 511 |
| SLC16A10 | CRYM | Q14894 | 510 |
| SLC16A10 | SLC3A2 | P08195 | 500 |
| SLC16A10 | SLC6A14 | Q9UN76 | 495 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRRC32 | SMPD2 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC16A10 | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC16A10 | INSIG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC16A10 | FUNDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TOR1AIP2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| CNDP1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| DHRS9 | MFSD4B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC16A10 | LAS1L | psi-mi:“MI:0915”(physical association) | 0.400 |
| UPK1A | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS11B | psi-mi:“MI:0914”(association) | 0.350 | |
| EDEM2 | HACD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| KLK8 | MT-ND1 | psi-mi:“MI:0914”(association) | 0.350 |
| GYG2 | GYS1 | psi-mi:“MI:0914”(association) | 0.350 |
| DHRS9 | ATP2B2 | psi-mi:“MI:0914”(association) | 0.350 |
| ERAP1 | TMEM87A | psi-mi:“MI:0914”(association) | 0.350 |
| CRELD1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC55 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| MGARP | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| SLC3A2 | GET1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS11B | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| KLK1 | SLC25A20 | psi-mi:“MI:0914”(association) | 0.350 |
| UPK2 | NRP2 | psi-mi:“MI:0914”(association) | 0.350 |
| LYZL6 | PLXNA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (153): SLC16A10 (Synthetic Growth Defect), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), INSIG2 (Two-hybrid)
ESM2 similar proteins: A1L1W9, A1L272, A2SWM2, A8WGF7, D3Z5L6, D4A9K4, F4IKF6, G5E8K6, G8XYX6, O15374, O35440, O70324, O70451, O70594, P30638, P36021, P53985, P53986, P53987, P53988, P57057, P58355, Q00910, Q03064, Q0VA82, Q3MHW6, Q3U9N9, Q569T7, Q5M7K3, Q5U3U7, Q5XGK0, Q63344, Q640L2, Q6DCX5, Q6GPQ3, Q6NMN6, Q6NT16, Q6NUB3, Q7ZWG6, Q8AVC3
Diamond homologs: A1L1W9, G8XYX6, O15374, O70324, P36021, Q3U9N9, Q7RTX9, Q8K1P8, Q8R0M8, Q8TF71, Q91Y77, M0RCI4, P36032, Q7TM99, Q5R5M4, Q7RTY1, Q8K1C7, Q5ZJU0, B0XWL0, B8N0F1, G5E8K6, O15375, O35440, O70451, P53988, P57787, Q17QR6, Q63344, Q66HE2, Q7RTY0, Q8CE94, S0ECK8, A0LNN5, O35308, Q6P2X9, Q6ZSM3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2529 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:111088091:GACAG:G | donor_gain | 1.0000 |
| 6:111137678:G:GT | donor_gain | 1.0000 |
| 6:111172693:A:AG | acceptor_gain | 1.0000 |
| 6:111172694:G:GG | acceptor_gain | 1.0000 |
| 6:111172837:AAGG:A | donor_loss | 1.0000 |
| 6:111172840:G:GC | donor_loss | 1.0000 |
| 6:111172841:T:G | donor_loss | 1.0000 |
| 6:111206586:CTATA:C | acceptor_loss | 1.0000 |
| 6:111206587:TATA:T | acceptor_loss | 1.0000 |
| 6:111206588:ATAGA:A | acceptor_loss | 1.0000 |
| 6:111206589:TAG:T | acceptor_loss | 1.0000 |
| 6:111206590:A:AG | acceptor_gain | 1.0000 |
| 6:111206590:A:G | acceptor_loss | 1.0000 |
| 6:111206591:G:GA | acceptor_gain | 1.0000 |
| 6:111206591:GAT:G | acceptor_gain | 1.0000 |
| 6:111206733:CAG:C | donor_loss | 1.0000 |
| 6:111206735:GGTA:G | donor_loss | 1.0000 |
| 6:111206737:T:A | donor_loss | 1.0000 |
| 6:111088094:AGGTG:A | donor_loss | 0.9900 |
| 6:111088095:GGTGA:G | donor_loss | 0.9900 |
| 6:111088096:G:T | donor_loss | 0.9900 |
| 6:111088097:T:G | donor_loss | 0.9900 |
| 6:111137636:G:GT | donor_gain | 0.9900 |
| 6:111152821:GAC:G | donor_gain | 0.9900 |
| 6:111166207:T:A | acceptor_gain | 0.9900 |
| 6:111172694:GC:G | acceptor_gain | 0.9900 |
| 6:111172694:GCA:G | acceptor_gain | 0.9900 |
| 6:111172694:GCAT:G | acceptor_gain | 0.9900 |
| 6:111205729:G:GT | donor_gain | 0.9900 |
| 6:111205748:C:G | donor_gain | 0.9900 |
AlphaMissense
3371 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:111177306:T:C | F195L | 1.000 |
| 6:111177308:C:A | F195L | 1.000 |
| 6:111177308:C:G | F195L | 1.000 |
| 6:111177609:T:A | W296R | 1.000 |
| 6:111177609:T:C | W296R | 1.000 |
| 6:111218917:G:A | G397E | 1.000 |
| 6:111218989:G:A | G421E | 1.000 |
| 6:111087997:G:A | G82E | 0.999 |
| 6:111172718:G:A | G123R | 0.999 |
| 6:111172718:G:C | G123R | 0.999 |
| 6:111172736:T:C | C129R | 0.999 |
| 6:111172748:A:C | S133R | 0.999 |
| 6:111172750:C:A | S133R | 0.999 |
| 6:111172750:C:G | S133R | 0.999 |
| 6:111172794:G:A | G148D | 0.999 |
| 6:111172826:A:C | S159R | 0.999 |
| 6:111172828:T:A | S159R | 0.999 |
| 6:111172828:T:G | S159R | 0.999 |
| 6:111177280:C:A | P186H | 0.999 |
| 6:111177280:C:G | P186R | 0.999 |
| 6:111177306:T:A | F195I | 0.999 |
| 6:111177307:T:C | F195S | 0.999 |
| 6:111177351:A:C | S210R | 0.999 |
| 6:111177353:C:A | S210R | 0.999 |
| 6:111177353:C:G | S210R | 0.999 |
| 6:111177354:A:C | S211R | 0.999 |
| 6:111177356:T:A | S211R | 0.999 |
| 6:111177356:T:G | S211R | 0.999 |
| 6:111177640:G:A | G306E | 0.999 |
| 6:111218835:G:C | G370R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000044223 (6:111189289 C>T), RS1000054502 (6:111104498 A>C,G), RS1000063743 (6:111131579 G>A,T), RS1000110723 (6:111185352 C>G,T), RS1000130359 (6:111097511 G>A), RS1000188881 (6:111104113 T>C), RS1000198163 (6:111196078 G>A), RS1000238793 (6:111093593 A>G), RS1000245007 (6:111136784 A>C,G), RS1000327546 (6:111144096 G>A), RS1000359960 (6:111156305 T>C,G), RS1000402114 (6:111097725 T>C), RS1000413488 (6:111226479 A>C), RS1000425930 (6:111118345 C>A,T), RS1000430266 (6:111150951 C>T)
Disease associations
OMIM: gene MIM:607550 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001217_10 | Metabolic traits | 1.000000e-12 |
| GCST001391_11 | Metabolite levels | 4.000000e-15 |
| GCST004131_98 | Inflammatory bowel disease | 4.000000e-10 |
| GCST004133_60 | Ulcerative colitis | 6.000000e-10 |
| GCST004602_117 | Mean corpuscular volume | 3.000000e-12 |
| GCST004630_98 | Mean corpuscular hemoglobin | 5.000000e-11 |
| GCST008097_24 | Bisphosphonate-associated atypical femoral fracture | 2.000000e-06 |
| GCST008867_1 | Tyrosine levels | 1.000000e-07 |
| GCST009391_1979 | Metabolite levels | 1.000000e-08 |
| GCST009391_738 | Metabolite levels | 4.000000e-06 |
| GCST010002_332 | Refractive error | 3.000000e-10 |
| GCST012020_124 | Serum metabolite levels | 7.000000e-11 |
| GCST90002390_446 | Mean corpuscular hemoglobin | 2.000000e-09 |
| GCST90002390_447 | Mean corpuscular hemoglobin | 2.000000e-30 |
| GCST90002392_692 | Mean corpuscular volume | 4.000000e-34 |
| GCST90002392_693 | Mean corpuscular volume | 1.000000e-09 |
| GCST90002396_334 | Mean reticulocyte volume | 3.000000e-30 |
| GCST90002397_475 | Mean spheric corpuscular volume | 4.000000e-26 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004725 | metabolite measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0009958 | response to bisphosphonate |
| EFO:0009960 | atypical femoral fracture |
| EFO:0005058 | tyrosine measurement |
| EFO:0010701 | mean reticulocyte volume |
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 — SLC16 family of monocarboxylate transporters
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, affects cotreatment, increases expression | 7 |
| Aflatoxin B1 | increases methylation, affects expression, decreases expression | 3 |
| nickel sulfate | increases expression | 2 |
| Copper | affects binding, decreases expression | 2 |
| Estradiol | increases expression, decreases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| terbufos | increases methylation | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | 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 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Azathioprine | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4HZ | HCT116-SLC16A10-KO-c3 | Cancer cell line | Male |
| CVCL_D4I0 | HCT116-SLC16A10-KO-c5 | Cancer cell line | Male |
| CVCL_TL63 | HAP1 SLC16A10 (-) 1 | Cancer cell line | Male |
| CVCL_TL64 | HAP1 SLC16A10 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.