SLC25A16
gene geneOn this page
Also known as GDAD10S105EHGT.1ML7
Summary
SLC25A16 (solute carrier family 25 member 16, HGNC:10986) is a protein-coding gene on chromosome 10q21.3, encoding Mitochondrial coenzyme A transporter SLC25A16 (P16260). Mitochondrial inner membrane transporter that regulates coenzyme A homeostasis between cytosol and mitochondria.
This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves’ disease.
Source: NCBI Gene 8034 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 108 total — 1 likely-pathogenic
- MANE Select transcript:
NM_152707
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10986 |
| Approved symbol | SLC25A16 |
| Name | solute carrier family 25 member 16 |
| Location | 10q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GDA, D10S105E, HGT.1, ML7 |
| Ensembl gene | ENSG00000122912 |
| Ensembl biotype | protein_coding |
| OMIM | 139080 |
| Entrez | 8034 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000265870, ENST00000439904, ENST00000474927, ENST00000491102, ENST00000493963, ENST00000608053, ENST00000609923, ENST00000873655, ENST00000873656, ENST00000873657, ENST00000966724, ENST00000966725, ENST00000966726
RefSeq mRNA: 6 — MANE Select: NM_152707
NM_001324312, NM_001324313, NM_001324314, NM_001324315, NM_001324317, NM_152707
CCDS: CCDS7280
Canonical transcript exons
ENST00000609923 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001373143 | 68527246 | 68527523 |
| ENSE00003505522 | 68493449 | 68493570 |
| ENSE00003703220 | 68503632 | 68503695 |
| ENSE00003706742 | 68477998 | 68483588 |
| ENSE00003707755 | 68487144 | 68487212 |
| ENSE00003708077 | 68493132 | 68493198 |
| ENSE00003708406 | 68516751 | 68516843 |
| ENSE00003709873 | 68488467 | 68488629 |
| ENSE00003710535 | 68506585 | 68506718 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 89.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2197 / max 203.0742, expressed in 1810 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109764 | 9.1394 | 1786 |
| 109763 | 4.9029 | 1713 |
| 109762 | 0.6479 | 375 |
| 109761 | 0.5104 | 255 |
| 109760 | 0.0191 | 6 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 89.33 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.36 | gold quality |
| liver | UBERON:0002107 | 86.83 | gold quality |
| adipose tissue | UBERON:0001013 | 86.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.45 | gold quality |
| mammary gland | UBERON:0001911 | 86.32 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 86.31 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.20 | gold quality |
| mammary duct | UBERON:0001765 | 86.20 | gold quality |
| connective tissue | UBERON:0002384 | 85.95 | gold quality |
| corpus epididymis | UBERON:0004359 | 85.94 | gold quality |
| duodenum | UBERON:0002114 | 85.86 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 85.77 | gold quality |
| tibia | UBERON:0000979 | 85.74 | gold quality |
| cauda epididymis | UBERON:0004360 | 85.47 | gold quality |
| caput epididymis | UBERON:0004358 | 85.11 | gold quality |
| body of pancreas | UBERON:0001150 | 84.91 | gold quality |
| postcentral gyrus | UBERON:0002581 | 84.83 | gold quality |
| apex of heart | UBERON:0002098 | 84.55 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.34 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 84.24 | gold quality |
| upper lobe of lung | UBERON:0008948 | 84.06 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.99 | gold quality |
| endothelial cell | CL:0000115 | 83.97 | silver quality |
| subcutaneous adipose tissue | UBERON:0002190 | 83.93 | gold quality |
| parietal lobe | UBERON:0001872 | 83.82 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 83.81 | gold quality |
| prostate gland | UBERON:0002367 | 83.75 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 83.73 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
106 targeting SLC25A16, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
Literature-anchored findings (GeneRIF, showing 2)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- The authors findings report an extreme rare missense mutation in SLC25A1 which supports the causality of this variant for autosomal recessive form of isolated fingernail dysplasia. (PMID:28504827)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc25a16 | ENSDARG00000057287 |
| mus_musculus | Slc25a16 | ENSMUSG00000071253 |
| rattus_norvegicus | Slc25a16 | ENSRNOG00000000387 |
Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A36 (ENSG00000114120), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A37 (ENSG00000147454), SLC25A25 (ENSG00000148339), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)
Protein
Protein identifiers
Mitochondrial coenzyme A transporter SLC25A16 — P16260 (reviewed: P16260)
Alternative names: Graves disease autoantigen, Graves disease carrier protein, Graves’ didease protein, Mitochondrial solute carrier protein homolog, Solute carrier family 25 member 16
All UniProt accessions (5): P16260, V9GY06, V9GYA5, V9GYB8, V9GZ24
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial inner membrane transporter that regulates coenzyme A homeostasis between cytosol and mitochondria. Could mediate the import of coenzyme A from the cytosol into the mitochondrial matrix. Alternatively, it could function in the export of 3’-dephospho-CoA from the mitochondrial matrix to the cytosol.
Subcellular location. Mitochondrion inner membrane.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
RefSeq proteins (6): NP_001311241, NP_001311242, NP_001311243, NP_001311244, NP_001311246, NP_689920* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002067 | MCP | Family |
| IPR002167 | GDC-like | Family |
| IPR018108 | MCP_transmembrane | Repeat |
| IPR023395 | MCP_dom_sf | Homologous_superfamily |
Pfam: PF00153
Catalyzed reactions (Rhea), 2 shown:
- ADP(out) + CoA(in) = ADP(in) + CoA(out) (RHEA:72839)
- 3’-dephospho-CoA(in) + ADP(out) = 3’-dephospho-CoA(out) + ADP(in) (RHEA:72843)
UniProt features (17 total): sequence conflict 7, transmembrane region 6, repeat 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P16260-F1 | 85.09 | 0.53 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-199220 | Vitamin B5 (pantothenate) metabolism |
MSigDB gene sets: 335 (showing top):
GAANYNYGACNY_UNKNOWN, TGCACTT_MIR519C_MIR519B_MIR519A, MODULE_418, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, chr10q21, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, MODULE_503, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RODRIGUES_NTN1_TARGETS_DN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, MODULE_195
GO Biological Process (4): mitochondrial transport (GO:0006839), pantothenate metabolic process (GO:0015939), mitochondrial coenzyme A transmembrane transport (GO:1990559), transmembrane transport (GO:0055085)
GO Molecular Function (2): coenzyme A transmembrane transporter activity (GO:0015228), antiporter activity (GO:0015297)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of water-soluble vitamins and cofactors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| coenzyme A transmembrane transport | 2 |
| intracellular transport | 1 |
| modified amino acid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| transport | 1 |
| cellular process | 1 |
| organophosphate ester transmembrane transporter activity | 1 |
| nucleobase-containing compound transmembrane transporter activity | 1 |
| sulfur compound transmembrane transporter activity | 1 |
| secondary active transmembrane transporter activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A16 | CS | O75390 | 819 |
| SLC25A16 | TRIM13 | O60858 | 790 |
| SLC25A16 | MTCH2 | Q9Y6C9 | 782 |
| SLC25A16 | MTCH1 | Q9NZJ7 | 781 |
| SLC25A16 | CD274 | Q9NZQ7 | 576 |
| SLC25A16 | PAEP | P09466 | 576 |
| SLC25A16 | TP53 | P04637 | 541 |
| SLC25A16 | CD8A | P01732 | 528 |
| SLC25A16 | CTLA4 | P16410 | 507 |
| SLC25A16 | GAPDH | P00354 | 500 |
| SLC25A16 | CD4 | P01730 | 477 |
| SLC25A16 | MTUS1 | Q9ULD2 | 473 |
| SLC25A16 | MTUS2 | Q5JR59 | 473 |
| SLC25A16 | PDCD1 | Q15116 | 472 |
| SLC25A16 | TBL1X | O60907 | 468 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TOR1AIP2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| CNDP1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| DKK3 | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM131B | AURKA | psi-mi:“MI:0914”(association) | 0.530 |
| HLA-DPA1 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| PDCD1 | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| SYP | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| GALNS | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| PDCD1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DPA1 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NRG1 | HS6ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| EDEM2 | HACD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SYP | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP6R2 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| CD79B | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| TPP1 | NME4 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF126 | CAPN15 | psi-mi:“MI:0914”(association) | 0.350 |
| MGARP | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DRA | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC55 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| DKK3 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| RAMP3 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR12 | TLCD2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (82): SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D6N272, A1DI57, A2R5A0, A4RF23, A6RF73, A6SL61, A7ER02, B4FIJ0, G3XP90, G3YAF3, G3YD89, O04619, O13844, O65023, P0C546, P16260, Q01888, Q05AQ3, Q0CEN9, Q0P483, Q0UUH1, Q1E7P0, Q1LZB3, Q29RM1, Q2UCW8, Q3TZX3, Q4X022, Q5AVW1, Q5IS35, Q5NVC1, Q5PQ27, Q6AYL0, Q6P036, Q7K566, Q7S2H8, Q86VD7, Q8BZ09, Q8C0K5, Q8R0Y8, Q8RWA5
Diamond homologs: A0JN87, A2A3V2, A4RPU0, F1LZW6, G3YAF3, G3YFS7, O04200, O43772, O77792, O95258, O97649, P16260, P33303, P39953, P97521, Q03028, Q08DK7, Q12482, Q3ZBJ8, Q54FE6, Q54RB9, Q54S10, Q55GE2, Q5HZE0, Q5RFB7, Q68F18, Q6GLJ0, Q6PGY3, Q75AH6, Q7DNC3, Q86AV5, Q86I81, Q8BL03, Q8BZ09, Q8HXW2, Q8HXY2, Q8WUT9, Q93XM7, Q99297, Q99JD3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
108 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 81 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 224813 | NM_152707.4(SLC25A16):c.793C>T (p.Arg265Cys) | Likely pathogenic |
SpliceAI
4728 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:68487138:ACTT:A | donor_loss | 1.0000 |
| 10:68487139:CTTA:C | donor_loss | 1.0000 |
| 10:68487140:TTA:T | donor_loss | 1.0000 |
| 10:68487141:TA:T | donor_loss | 1.0000 |
| 10:68487142:A:AC | donor_gain | 1.0000 |
| 10:68487142:A:C | donor_loss | 1.0000 |
| 10:68487142:ACAGG:A | donor_gain | 1.0000 |
| 10:68487143:C:CA | donor_gain | 1.0000 |
| 10:68487143:CA:C | donor_gain | 1.0000 |
| 10:68487143:CAGG:C | donor_gain | 1.0000 |
| 10:68487143:CAGGC:C | donor_gain | 1.0000 |
| 10:68487208:GGTAG:G | acceptor_gain | 1.0000 |
| 10:68487209:GTAG:G | acceptor_gain | 1.0000 |
| 10:68487210:TAG:T | acceptor_gain | 1.0000 |
| 10:68487210:TAGC:T | acceptor_loss | 1.0000 |
| 10:68487211:AG:A | acceptor_gain | 1.0000 |
| 10:68487211:AGCT:A | acceptor_loss | 1.0000 |
| 10:68487212:GCTA:G | acceptor_loss | 1.0000 |
| 10:68487213:C:CC | acceptor_gain | 1.0000 |
| 10:68487213:CT:C | acceptor_loss | 1.0000 |
| 10:68488465:A:AC | donor_gain | 1.0000 |
| 10:68488466:C:CC | donor_gain | 1.0000 |
| 10:68488627:CAC:C | acceptor_gain | 1.0000 |
| 10:68493482:T:TA | donor_gain | 1.0000 |
| 10:68503620:AACT:A | donor_gain | 1.0000 |
| 10:68503621:A:C | donor_gain | 1.0000 |
| 10:68503691:ATTAA:A | acceptor_gain | 1.0000 |
| 10:68503692:TTAA:T | acceptor_gain | 1.0000 |
| 10:68503693:TAA:T | acceptor_gain | 1.0000 |
| 10:68503694:AA:A | acceptor_gain | 1.0000 |
AlphaMissense
2132 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:68483474:A:C | F319L | 0.999 |
| 10:68483474:A:T | F319L | 0.999 |
| 10:68483476:A:G | F319L | 0.999 |
| 10:68483485:C:G | A316P | 0.999 |
| 10:68483524:C:G | G303R | 0.999 |
| 10:68487207:G:T | P260Q | 0.999 |
| 10:68488497:C:T | G248D | 0.999 |
| 10:68488500:C:T | G247D | 0.999 |
| 10:68488610:A:C | F210L | 0.999 |
| 10:68488610:A:T | F210L | 0.999 |
| 10:68488612:A:G | F210L | 0.999 |
| 10:68488629:C:T | G204D | 0.999 |
| 10:68493171:C:G | G191R | 0.999 |
| 10:68493538:C:G | D152H | 0.999 |
| 10:68493540:A:T | L151H | 0.999 |
| 10:68493561:G:T | A144E | 0.999 |
| 10:68503643:C:T | G137E | 0.999 |
| 10:68506619:G:T | A108E | 0.999 |
| 10:68506658:C:T | G95E | 0.999 |
| 10:68506659:C:G | G95R | 0.999 |
| 10:68506659:C:T | G95R | 0.999 |
| 10:68516791:C:A | K61N | 0.999 |
| 10:68516791:C:G | K61N | 0.999 |
| 10:68516798:C:G | R59P | 0.999 |
| 10:68516843:C:T | G44D | 0.999 |
| 10:68527246:C:G | G44R | 0.999 |
| 10:68527248:C:T | G43E | 0.999 |
| 10:68483475:A:G | F319S | 0.998 |
| 10:68483484:G:T | A316E | 0.998 |
| 10:68483510:A:C | N307K | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000052110 (10:68498416 G>A), RS1000100847 (10:68522862 C>G), RS1000114981 (10:68483909 C>A), RS1000223135 (10:68517694 C>T), RS1000239573 (10:68517448 T>C), RS1000285636 (10:68495955 G>A,C), RS1000306760 (10:68478472 T>C), RS1000396662 (10:68505732 C>T), RS1000437303 (10:68490140 C>A), RS1000468110 (10:68478209 T>C), RS1000536418 (10:68522614 G>A,T), RS1000627814 (10:68511222 C>T), RS1000760165 (10:68493455 A>G), RS1000775572 (10:68491486 A>T), RS1000802498 (10:68525480 GTCTC>G,GTC)
Disease associations
OMIM: gene MIM:139080 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000816_1 | Suicidal ideation | 7.000000e-06 |
| GCST000816_2 | Suicidal ideation | 8.000000e-07 |
| GCST90020028_78 | Hip circumference adjusted for BMI | 9.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004320 | suicidal ideation |
| EFO:0008039 | BMI-adjusted hip circumference |
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 — Mitochondrial nucleotide transporter subfamily
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 7 |
| Acetaminophen | increases expression, decreases expression | 3 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| urushiol | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | 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 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Progesterone | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Selenium | affects cotreatment, decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Vitamin E | decreases expression, affects cotreatment | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression | 1 |
| Zidovudine | increases expression | 1 |
| Isotretinoin | 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_D4CQ | HCT116-SLC25A16-KO-c4 | Cancer cell line | Male |
| CVCL_D4CR | HCT116-SLC25A16-KO-c7 | 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.