SLC27A6
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Also known as FATP6VLCS-H1FACVL2ACSVL2
Summary
SLC27A6 (solute carrier family 27 member 6, HGNC:11000) is a protein-coding gene on chromosome 5q23.3, encoding Long-chain fatty acid transport protein 6 (Q9Y2P4). Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport at the plasma membrane.
This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 28965 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 112 total
- MANE Select transcript:
NM_001017372
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11000 |
| Approved symbol | SLC27A6 |
| Name | solute carrier family 27 member 6 |
| Location | 5q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FATP6, VLCS-H1, FACVL2, ACSVL2 |
| Ensembl gene | ENSG00000113396 |
| Ensembl biotype | protein_coding |
| OMIM | 604196 |
| Entrez | 28965 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000262462, ENST00000395266, ENST00000506176, ENST00000508645, ENST00000901438, ENST00000901439, ENST00000901440, ENST00000931384, ENST00000958180, ENST00000958181
RefSeq mRNA: 3 — MANE Select: NM_001017372
NM_001017372, NM_001317984, NM_014031
CCDS: CCDS4145
Canonical transcript exons
ENST00000262462 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000762087 | 129015885 | 129016079 |
| ENSE00000762088 | 129023620 | 129023710 |
| ENSE00000762089 | 129027133 | 129027331 |
| ENSE00000762090 | 129028345 | 129028442 |
| ENSE00000762091 | 129029577 | 129029707 |
| ENSE00000822446 | 128965488 | 128966618 |
| ENSE00001172904 | 128990340 | 128990464 |
| ENSE00001172916 | 128988600 | 128988758 |
| ENSE00001934159 | 129033106 | 129033635 |
| ENSE00003474219 | 128985133 | 128985336 |
Expression profiles
Bgee: expression breadth ubiquitous, 175 present calls, max score 98.93.
FANTOM5 (CAGE): breadth broad, TPM avg 1.7839 / max 200.7394, expressed in 353 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58368 | 0.8156 | 221 |
| 58367 | 0.5429 | 211 |
| 58369 | 0.2455 | 97 |
| 58360 | 0.0630 | 17 |
| 58366 | 0.0490 | 25 |
| 58370 | 0.0377 | 22 |
| 58364 | 0.0230 | 5 |
| 58365 | 0.0072 | 1 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.93 | gold quality |
| oocyte | CL:0000023 | 95.15 | gold quality |
| right uterine tube | UBERON:0001302 | 87.16 | gold quality |
| apex of heart | UBERON:0002098 | 86.91 | gold quality |
| heart left ventricle | UBERON:0002084 | 85.71 | gold quality |
| heart right ventricle | UBERON:0002080 | 85.69 | gold quality |
| cardiac ventricle | UBERON:0002082 | 85.48 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.73 | gold quality |
| lower esophagus | UBERON:0013473 | 84.66 | gold quality |
| myocardium | UBERON:0002349 | 83.50 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.43 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 83.32 | gold quality |
| hair follicle | UBERON:0002073 | 83.22 | gold quality |
| right atrium auricular region | UBERON:0006631 | 82.98 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 82.88 | gold quality |
| cardiac atrium | UBERON:0002081 | 82.69 | gold quality |
| left adrenal gland | UBERON:0001234 | 82.67 | gold quality |
| right adrenal gland | UBERON:0001233 | 81.52 | gold quality |
| heart | UBERON:0000948 | 80.79 | gold quality |
| adrenal cortex | UBERON:0001235 | 80.48 | gold quality |
| tibial nerve | UBERON:0001323 | 80.05 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 79.29 | gold quality |
| adrenal gland | UBERON:0002369 | 79.08 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 78.99 | gold quality |
| esophagus | UBERON:0001043 | 77.12 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 75.76 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 74.07 | gold quality |
| left ovary | UBERON:0002119 | 74.02 | gold quality |
| placenta | UBERON:0001987 | 73.80 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 72.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.47 |
| E-HCAD-30 | no | 160.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting SLC27A6, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-3675-3P | 99.09 | 67.70 | 968 |
| HSA-MIR-491-3P | 98.88 | 68.86 | 1224 |
| HSA-MIR-12125 | 98.59 | 67.54 | 1044 |
| HSA-MIR-12120 | 98.05 | 68.44 | 1768 |
Literature-anchored findings (GeneRIF, showing 4)
- FATP6 is involved in heart LCFA uptake, in which it may play a role in the pathogenesis of lipid-related cardiac disorders. (PMID:12556534)
- The FATP6-7T>A polymorphism may protect from traits of the metabolic syndrome and CVD. (PMID:21920065)
- Inverse correlation between SLC27A6 expression and breast tumoral tissues.SLC27A6role in the cell growth and cell cycle regulation in non-tumorigenic breast cells. (PMID:30911270)
- Solute Carrier Family 27 Member 6 (SLC27A6) Possibly Promotes the Proliferation of Papillary Thyroid Cancer by Regulating c-MYC. (PMID:35348939)
Cross-species orthologs
27 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc27a6 | ENSDARG00000046053 |
| mus_musculus | Slc27a6 | ENSMUSG00000024600 |
| rattus_norvegicus | Slc27a6 | ENSRNOG00000058193 |
| drosophila_melanogaster | bgm | FBGN0027348 |
| drosophila_melanogaster | pdgy | FBGN0027601 |
| drosophila_melanogaster | CG8834 | FBGN0033733 |
| drosophila_melanogaster | CG17999 | FBGN0034552 |
| drosophila_melanogaster | CG9993 | FBGN0034553 |
| drosophila_melanogaster | Fatp3 | FBGN0034999 |
| drosophila_melanogaster | CG4563 | FBGN0035006 |
| drosophila_melanogaster | CG5568 | FBGN0035641 |
| drosophila_melanogaster | CG18586 | FBGN0035642 |
| drosophila_melanogaster | CG4830 | FBGN0037996 |
| drosophila_melanogaster | Acsx1L | FBGN0038730 |
| drosophila_melanogaster | Acsx1R | FBGN0038731 |
| drosophila_melanogaster | Acsx2 | FBGN0038732 |
| drosophila_melanogaster | Acsx3 | FBGN0038733 |
| drosophila_melanogaster | Acsx4 | FBGN0038734 |
| drosophila_melanogaster | Fatp2 | FBGN0265187 |
| drosophila_melanogaster | Fatp1 | FBGN0267828 |
| drosophila_melanogaster | hll | FBGN0286723 |
| caenorhabditis_elegans | WBGENE00007082 | |
| caenorhabditis_elegans | WBGENE00008669 | |
| caenorhabditis_elegans | WBGENE00009218 | |
| caenorhabditis_elegans | WBGENE00011173 | |
| caenorhabditis_elegans | WBGENE00019920 | |
| caenorhabditis_elegans | WBGENE00022849 |
Paralogs (12): ACSL4 (ENSG00000068366), SLC27A5 (ENSG00000083807), ACSBG1 (ENSG00000103740), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), ACSBG2 (ENSG00000130377), SLC27A2 (ENSG00000140284), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), SLC27A4 (ENSG00000167114), ACSL5 (ENSG00000197142)
Protein
Protein identifiers
Long-chain fatty acid transport protein 6 — Q9Y2P4 (reviewed: Q9Y2P4)
Alternative names: Arachidonate–CoA ligase, Fatty-acid-coenzyme A ligase, very long-chain 2, Long-chain-fatty-acid–CoA ligase, Solute carrier family 27 member 6, Very long-chain acyl-CoA synthetase homolog 1
All UniProt accessions (2): Q9Y2P4, D6RAJ2
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport at the plasma membrane. Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation such as the heart.
Subcellular location. Cell membrane. Sarcolemma.
Tissue specificity. Strongly expressed in heart and localizes to cardiac myocytes. Expressed at moderate levels in placenta, testis, and adrenal glands. Expressed at very low levels in kidney, bladder and uterus.
Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.
RefSeq proteins (3): NP_001017372, NP_001304913, NP_054750 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000873 | AMP-dep_synth/lig_dom | Domain |
| IPR020845 | AMP-binding_CS | Conserved_site |
| IPR025110 | AMP-bd_C | Domain |
| IPR042099 | ANL_N_sf | Homologous_superfamily |
| IPR045851 | AMP-b_sf | Homologous_superfamily |
Pfam: PF00501, PF13193
Catalyzed reactions (Rhea), 9 shown:
- a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:15421)
- (5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate (RHEA:19713)
- (9Z)-octadecenoate + ATP + CoA = (9Z)-octadecenoyl-CoA + AMP + diphosphate (RHEA:33607)
- tetracosanoate + ATP + CoA = tetracosanoyl-CoA + AMP + diphosphate (RHEA:33639)
- (9Z)-octadecenoate(out) = (9Z)-octadecenoate(in) (RHEA:33655)
- a fatty acid(in) = a fatty acid(out) (RHEA:38879)
- hexadecanoate(out) = hexadecanoate(in) (RHEA:45256)
- (9Z,12Z)-octadecadienoate(out) = (9Z,12Z)-octadecadienoate(in) (RHEA:45264)
- a very long-chain fatty acid + ATP + CoA = a very long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:54536)
UniProt features (12 total): sequence conflict 7, transmembrane region 2, chain 1, binding site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2P4-F1 | 90.97 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 221–232
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-804914 | Transport of fatty acids |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425397 | Transport of vitamins, nucleosides, and related molecules |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 102 (showing top):
GOZGIT_ESR1_TARGETS_DN, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, KEGG_PPAR_SIGNALING_PATHWAY, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, GOBP_VERY_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, GOBP_LONG_CHAIN_FATTY_ACID_TRANSPORT, GOBP_IMPORT_INTO_CELL, GOBP_LIPID_LOCALIZATION
GO Biological Process (8): very long-chain fatty acid metabolic process (GO:0000038), long-chain fatty acid metabolic process (GO:0001676), long-chain fatty acid transport (GO:0015909), long-chain fatty acid import into cell (GO:0044539), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), lipid transport (GO:0006869), fatty acid transport (GO:0015908)
GO Molecular Function (7): nucleotide binding (GO:0000166), long-chain fatty acid-CoA ligase activity (GO:0004467), long-chain fatty acid transmembrane transporter activity (GO:0005324), fatty acid transmembrane transporter activity (GO:0015245), very long-chain fatty acid-CoA ligase activity (GO:0031957), arachidonate-CoA ligase activity (GO:0047676), ligase activity (GO:0016874)
GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), sarcolemma (GO:0042383), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Transport of vitamins, nucleosides, and related molecules | 1 |
| SLC-mediated transmembrane transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid metabolic process | 2 |
| fatty acid transport | 2 |
| long-chain fatty acid transport | 2 |
| fatty acid-CoA ligase activity | 2 |
| import into cell | 1 |
| lipid import into cell | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| transport | 1 |
| lipid localization | 1 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| long-chain fatty acid metabolic process | 1 |
| fatty acid transmembrane transporter activity | 1 |
| monocarboxylic acid transmembrane transporter activity | 1 |
| lipid transmembrane transporter activity | 1 |
| long-chain fatty acid-CoA ligase activity | 1 |
| catalytic activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1314 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC27A6 | ACSL1 | P33121 | 857 |
| SLC27A6 | FABP3 | P05413 | 677 |
| SLC27A6 | AASDH | Q4L235 | 657 |
| SLC27A6 | CD36 | P16671 | 577 |
| SLC27A6 | LPIN1 | Q14693 | 577 |
| SLC27A6 | FASN | P49327 | 553 |
| SLC27A6 | SCARB1 | Q8WTV0 | 516 |
| SLC27A6 | SCARB2 | Q14108 | 516 |
| SLC27A6 | SLC2A1 | P11166 | 504 |
| SLC27A6 | DGAT2 | Q96PD7 | 479 |
| SLC27A6 | INS | P01308 | 472 |
| SLC27A6 | COASY | Q13057 | 449 |
| SLC27A6 | GOT2 | P00505 | 435 |
| SLC27A6 | ACSL3 | O95573 | 410 |
| SLC27A6 | FABP5 | Q01469 | 404 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SLC27A6 | TTC4 | psi-mi:“MI:0914”(association) | 0.640 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| KCNA5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| EVA1C | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| UST | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| atp6v0d_human | ATP6AP2 | psi-mi:“MI:0914”(association) | 0.530 |
| EVA1C | STK25 | psi-mi:“MI:0914”(association) | 0.530 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC27A6 | NPM1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATP6V0D1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PCDHGB4 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| PMEL | MAN1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNA2 | TMEM129 | psi-mi:“MI:0914”(association) | 0.350 |
| IGHM | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHA8 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC55 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB6 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (257): SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), WDR41 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), TTC4 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2K047, A7MB45, E9Q9W4, M4ISH1, O14975, O22898, O35488, O42633, O60488, O88561, O95573, P30624, P38225, P39002, P97524, Q05567, Q14DH7, Q17577, Q1ZXQ4, Q21166, Q26304, Q2XU92, Q4LDG0, Q54Z60, Q55DR6, Q5R668, Q5REB8, Q63151, Q6BQF2, Q6BS00, Q6FLU2, Q8J0E9, Q8K009, Q99NB1, Q9C509, Q9C7W4, Q9CAP8, Q9CZW4, Q9ES38, Q9H6R3
Diamond homologs: E9Q9W4, O05307, O14975, O35488, O42633, O88561, P38225, P97524, P97849, Q3ZKN0, Q4LDG0, Q4R3Y4, Q5K4L6, Q5RDY4, Q60714, Q6P1M0, Q6PCB7, Q8J0E9, Q91VE0, Q9ES38, Q9Y2P4, Q9Y2P5, A0A0U1LQE6, A0A1R3RGK1, G3J9P0, I1S2J4, O53551, Q0S4D7, Q7TWC5, B2HHZ8, A0A193PS46, Q80WC9, B2HIN2, C5BK10, A0A0A2J5U8, Q4L235, Q9L9G0, P0C061, P39845, Q9SEY5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLC27A6 | “up-regulates quantity” | “Fatty acid” | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3066 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:128988754:GTTGG:G | donor_gain | 1.0000 |
| 5:128990338:A:AG | acceptor_gain | 1.0000 |
| 5:128990338:AG:A | acceptor_gain | 1.0000 |
| 5:128990338:AGGT:A | acceptor_gain | 1.0000 |
| 5:128990339:G:GT | acceptor_gain | 1.0000 |
| 5:128990339:GG:G | acceptor_gain | 1.0000 |
| 5:128990339:GGT:G | acceptor_gain | 1.0000 |
| 5:128990339:GGTG:G | acceptor_gain | 1.0000 |
| 5:128990339:GGTGC:G | acceptor_gain | 1.0000 |
| 5:128990398:G:GT | donor_gain | 1.0000 |
| 5:128990460:CTAAG:C | donor_loss | 1.0000 |
| 5:128990461:TAAG:T | donor_loss | 1.0000 |
| 5:128990462:AAGG:A | donor_loss | 1.0000 |
| 5:128990463:AG:A | donor_loss | 1.0000 |
| 5:128990464:GGTAG:G | donor_loss | 1.0000 |
| 5:128990466:T:G | donor_loss | 1.0000 |
| 5:129023618:A:AG | acceptor_gain | 1.0000 |
| 5:129023619:G:GG | acceptor_gain | 1.0000 |
| 5:129023619:GCTTC:G | acceptor_gain | 1.0000 |
| 5:129027127:TTGCA:T | acceptor_loss | 1.0000 |
| 5:129027128:TGCAG:T | acceptor_loss | 1.0000 |
| 5:129027129:GCA:G | acceptor_loss | 1.0000 |
| 5:129027130:CA:C | acceptor_loss | 1.0000 |
| 5:129027131:A:AC | acceptor_loss | 1.0000 |
| 5:129027131:A:AG | acceptor_gain | 1.0000 |
| 5:129027132:G:GG | acceptor_gain | 1.0000 |
| 5:129027132:GGA:G | acceptor_gain | 1.0000 |
| 5:129027327:TTCAG:T | donor_loss | 1.0000 |
| 5:129027328:TCAG:T | donor_loss | 1.0000 |
| 5:129027329:CAGGT:C | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000149973 (5:129006174 G>A), RS1000218825 (5:129007455 A>T), RS1000240653 (5:128995480 A>G,T), RS1000281598 (5:129024142 T>C), RS1000291089 (5:128969571 G>T), RS1000340909 (5:128978330 G>T), RS1000349367 (5:129017916 A>T), RS1000367242 (5:129001869 C>T), RS1000444903 (5:129005863 C>T), RS1000535880 (5:128988431 T>C), RS1000551200 (5:128979090 A>C,G), RS1000558181 (5:129028907 G>T), RS1000622167 (5:129022689 G>A), RS1000629753 (5:129030433 G>A), RS1000696455 (5:128965936 G>C,T)
Disease associations
OMIM: gene MIM:604196 | 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 |
|---|---|---|
| GCST003487_9 | Response to fenofibrate (total cholesterol levels) | 5.000000e-06 |
| GCST003542_108 | Night sleep phenotypes | 3.000000e-06 |
| GCST006061_150 | Atrial fibrillation | 2.000000e-07 |
| GCST006414_138 | Atrial fibrillation | 5.000000e-10 |
| GCST010320_62 | PR interval | 1.000000e-07 |
| GCST010321_4 | PR interval | 4.000000e-09 |
| GCST010701_65 | Cortical surface area (MOSTest) | 1.000000e-09 |
| GCST010702_168 | Subcortical volume (MOSTest) | 1.000000e-17 |
| GCST010703_157 | Brain morphology (MOSTest) | 3.000000e-09 |
| GCST011987_1 | Congenital right-sided heart lesions | 1.000000e-08 |
| GCST90000025_9 | Appendicular lean mass | 3.000000e-13 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007806 | total cholesterol change measurement |
| EFO:0004462 | PR interval |
| EFO:0004346 | neuroimaging measurement |
| EFO:0600032 | congenital right-sided heart lesions |
| EFO:0004980 | appendicular lean mass |
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 — SLC27 family of fatty acid transporters
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | increases methylation, affects methylation, decreases expression, decreases methylation | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression, increases expression | 1 |
| Methotrexate | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Cyclosporine | increases 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_D4KW | HCT116-SLC27A6-KO-c10 | Cancer cell line | Male |
| CVCL_D4KX | HCT116-SLC27A6-KO-c2 | Cancer cell line | Male |
| CVCL_TM72 | HAP1 SLC27A6 (-) 1 | Cancer cell line | Male |
| CVCL_TM73 | HAP1 SLC27A6 (-) 2 | 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): atrial fibrillation