SLC27A2

Summary

SLC27A2 (solute carrier family 27 member 2, HGNC:10996) is a protein-coding gene on chromosome 15q21.2, encoding Long-chain fatty acid transport protein 2 (O14975). Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport across cell membranes, playing an important role in hepatic fatty acid uptake.

The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11001 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 109 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_003645

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10996
Approved symbol	SLC27A2
Name	solute carrier family 27 member 2
Location	15q21.2
Locus type	gene with protein product
Status	Approved
Aliases	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1
Ensembl gene	ENSG00000140284
Ensembl biotype	protein_coding
OMIM	603247
Entrez	11001

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000267842, ENST00000380902, ENST00000544960, ENST00000559938, ENST00000895509, ENST00000895510, ENST00000895511, ENST00000930364

RefSeq mRNA: 2 — MANE Select: NM_003645 NM_001159629, NM_003645

CCDS: CCDS10133, CCDS53943

Canonical transcript exons

ENST00000267842 — 10 exons

Exon	Start	End
ENSE00000942218	50182196	50182905
ENSE00000942221	50205239	50205363
ENSE00000942223	50225988	50226078
ENSE00000942224	50226980	50227178
ENSE00000942225	50228945	50229042
ENSE00000942226	50233868	50233998
ENSE00001884561	50235920	50236385
ENSE00003458963	50222965	50223159
ENSE00003534914	50197500	50197709
ENSE00003618858	50202487	50202645

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 98.55.

FANTOM5 (CAGE): breadth broad, TPM avg 9.3045 / max 553.7635, expressed in 885 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146590	5.7090	789
146589	2.6944	632
146591	0.4868	181
146594	0.1899	102
146592	0.1821	88
146593	0.0423	21

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.55	gold quality
epithelium of bronchus	UBERON:0002031	97.96	gold quality
liver	UBERON:0002107	97.43	gold quality
bronchus	UBERON:0002185	97.29	gold quality
right lobe of liver	UBERON:0001114	96.90	gold quality
nephron tubule	UBERON:0001231	96.76	gold quality
corpus epididymis	UBERON:0004359	96.59	gold quality
kidney epithelium	UBERON:0004819	95.49	gold quality
mucosa of transverse colon	UBERON:0004991	94.63	gold quality
caput epididymis	UBERON:0004358	94.20	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.15	gold quality
renal glomerulus	UBERON:0000074	94.02	gold quality
metanephric glomerulus	UBERON:0004736	93.45	gold quality
nasal cavity epithelium	UBERON:0005384	93.05	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.94	gold quality
epithelium of nasopharynx	UBERON:0001951	92.01	gold quality
adult mammalian kidney	UBERON:0000082	90.66	gold quality
kidney	UBERON:0002113	90.02	gold quality
colonic mucosa	UBERON:0000317	89.65	gold quality
nasal cavity mucosa	UBERON:0001826	88.88	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.68	gold quality
ileal mucosa	UBERON:0000331	88.45	gold quality
cortex of kidney	UBERON:0001225	87.90	gold quality
rectum	UBERON:0001052	86.57	gold quality
tibia	UBERON:0000979	86.56	gold quality
jejunal mucosa	UBERON:0000399	86.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.81	gold quality
choroid plexus epithelium	UBERON:0003911	85.67	gold quality
placenta	UBERON:0001987	85.39	gold quality
right uterine tube	UBERON:0001302	85.25	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	128.63
E-MTAB-6678	no	3.41
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SREBF1

miRNA regulators (miRDB)

30 targeting SLC27A2, 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-5696	99.98	72.36	4487
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-155-3P	99.03	67.99	924
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-9903	98.47	66.70	748
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-6867-3P	98.12	66.07	1305
HSA-MIR-4432	97.80	67.87	705
HSA-MIR-4287	97.55	67.24	1247
HSA-MIR-4685-3P	97.55	67.35	1255
HSA-MIR-216B-5P	97.16	66.76	1126

Literature-anchored findings (GeneRIF, showing 12)

• Muscle expression of FK506-BP2 in FK506-BP2 mutants completely restores the sensitivity of motor function to both age and oxidative stress, supporting the idea that the age-dependent decline in motor function in Drosophila requires FK506-BP2 function within the muscle. (PMID:27803160)
• FATP2a functions in fatty acid transport and activation and provides specificity toward n-3 fatty acids in which the corresponding n-3 acyl-CoAs are preferentially trafficked into acyl-CoA pools destined for phosphatidylinositol incorporation (PMID:21768100)
• even though hypoxia regulates the expression of FATP2 and FATP4 in human trophoblasts, mouse Fatp2 and Fatp4 are not essential for intrauterine fetal growth. (PMID:22028793)
• these data support the conclusion that FATP2 has a dual function in the pathways linking the transport and activation of exogenous fatty acids. (PMID:24113382)
• Protective effects of breastfeeding are reflected in higher expression levels of SLC27A2, FASN, PPARalpha and INSR in blood cells. (PMID:24277691)
• In mice Grassofermata decreased absorption of (13)C-oleate demonstrating its potential as a therapeutic agent. (PMID:26284975)
• In overweight/obese pregnancies, the increased FATP2 placental expression could contribute to increased fatty acid delivery to the fetus. (PMID:27016784)
• mouse and human polymorphonuclear myeloid-derived suppressor cells (PMN-MDSCs) exclusively upregulate fatty acid transport protein 2 (FATP2); FATP2 mediates the acquisition of immunosuppressive activity by PMN-MDSCs and represents a target to inhibit the functions of PMN-MDSCs selectively and to improve the efficiency of cancer therapy (PMID:30996346)
• Involvement of FATP2-mediated tubular lipid metabolic reprogramming in renal fibrogenesis. (PMID:33219209)
• Upregulated SLC27A2/FATP2 in differentiated thyroid carcinoma promotes tumor proliferation and migration. (PMID:34854499)
• Feedback loop between fatty acid transport protein 2 and receptor interacting protein 3 pathways promotes polymorphonuclear neutrophil myeloid-derived suppressor cells-potentiated suppressive immunity in bladder cancer. (PMID:36169895)
• FATP2 regulates non-small cell lung cancer by mediating lipid metabolism through ACSL1. (PMID:37172427)

Cross-species orthologs

28 orthologs

Organism	Symbol	Gene ID
mus_musculus	Slc27a2	ENSMUSG00000027359
rattus_norvegicus	Slc27a2	ENSRNOG00000010128
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	Acsl	FBGN0263120
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		WBGENE00016716
caenorhabditis_elegans		WBGENE00019920
caenorhabditis_elegans		WBGENE00022849

Paralogs (12): ACSL4 (ENSG00000068366), SLC27A5 (ENSG00000083807), ACSBG1 (ENSG00000103740), SLC27A6 (ENSG00000113396), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), ACSBG2 (ENSG00000130377), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), SLC27A4 (ENSG00000167114), ACSL5 (ENSG00000197142)

Protein

Protein identifiers

Long-chain fatty acid transport protein 2 — O14975 (reviewed: O14975)

Alternative names: Arachidonate–CoA ligase, Fatty acid transport protein 2, Fatty-acid-coenzyme A ligase, very long-chain 1, Long-chain-fatty-acid–CoA ligase, Phytanate–CoA ligase, Solute carrier family 27 member 2, THCA-CoA ligase, Very long-chain acyl-CoA synthetase, Very long-chain-fatty-acid-CoA ligase

All UniProt accessions (2): O14975, G3V1R7

UniProt curated annotations — full annotation on UniProt →

Function. Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport across cell membranes, playing an important role in hepatic fatty acid uptake. 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, which prevents fatty acid efflux from cells and might drive more fatty acid uptake. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. Can also activate branched-chain fatty acids such as phytanic acid and pristanic acid. May contribute to the synthesis of sphingosine-1-phosphate. Does not activate C24 bile acids, cholate and chenodeoxycholate. In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. However, it is not critical for THCA activation and bile synthesis in vivo. Exhibits both long-chain fatty acids (LCFA) transport activity and acyl CoA synthetase towards very long-chain fatty acids. Shows a preference for generating CoA derivatives of n-3 fatty acids, which are preferentially trafficked into phosphatidylinositol. Exhibits long-chain fatty acids (LCFA) transport activity but lacks acyl CoA synthetase towards very long-chain fatty acids.

Subcellular location. Endoplasmic reticulum membrane. Peroxisome membrane. Cell membrane. Microsome.

Tissue specificity. Expressed in liver, kidney, placenta, intestine, brain, heart, and colon. Predominantly expressed in liver. Expressed in liver, placenta, and intestine, but much lower relative to isoform 1.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.

Isoforms (2)

UniProt ID	Names	Canonical?
O14975-1	1, FATP2a	yes
O14975-2	2, FATP2b

RefSeq proteins (2): NP_001153101, NP_003636* (*=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), 12 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)
• 3,7,11,15-tetramethylhexadecanoate + ATP + CoA = phytanoyl-CoA + AMP + diphosphate (RHEA:21380)
• (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate (RHEA:22976)
• hexadecanoate + ATP + CoA = hexadecanoyl-CoA + AMP + diphosphate (RHEA:30751)
• (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)
• (E)-hexadec-2-enoate + ATP + CoA = (2E)-hexadecenoyl-CoA + AMP + diphosphate (RHEA:36139)
• a fatty acid(in) = a fatty acid(out) (RHEA:38879)
• (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + ATP + CoA = (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + AMP + diphosphate (RHEA:44932)
• (9Z,12Z,15Z)-octadecatrienoate + ATP + CoA = (9Z,12Z,15Z)-octadecatrienoyl-CoA + AMP + diphosphate (RHEA:44936)

UniProt features (13 total): topological domain 4, transmembrane region 3, modified residue 2, chain 1, splice variant 1, sequence variant 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14975-F1	92.43	0.76

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): 222–233

Post-translational modifications (2): 577, 291

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-193368	Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775	Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-389599	Alpha-oxidation of phytanate
R-HSA-390247	Beta-oxidation of very long chain fatty acids
R-HSA-6798695	Neutrophil degranulation
R-HSA-75105	Fatty acyl-CoA biosynthesis
R-HSA-9033241	Peroxisomal protein import
R-HSA-1430728	Metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-192105	Synthesis of bile acids and bile salts
R-HSA-194068	Bile acid and bile salt metabolism
R-HSA-390918	Peroxisomal lipid metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8957322	Metabolism of steroids
R-HSA-8978868	Fatty acid metabolism
R-HSA-9609507	Protein localization

MSigDB gene sets: 298 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, BENPORATH_ES_WITH_H3K27ME3, GOCC_SECRETORY_GRANULE, GCANCTGNY_MYOD_Q6, GOZGIT_ESR1_TARGETS_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, ADDYA_ERYTHROID_DIFFERENTIATION_BY_HEMIN, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT

GO Biological Process (16): fatty acid alpha-oxidation (GO:0001561), long-chain fatty acid metabolic process (GO:0001676), fatty acid beta-oxidation (GO:0006635), bile acid biosynthetic process (GO:0006699), bile acid metabolic process (GO:0008206), fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540), very long-chain fatty acid catabolic process (GO:0042760), long-chain fatty acid import into cell (GO:0044539), fatty-acyl-CoA biosynthetic process (GO:0046949), methyl-branched fatty acid metabolic process (GO:0097089), very long-chain fatty acid metabolic process (GO:0000038), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), lipid transport (GO:0006869), fatty acid transport (GO:0015908), long-chain fatty acid transport (GO:0015909)

GO Molecular Function (12): long-chain fatty acid-CoA ligase activity (GO:0004467), long-chain fatty acid transmembrane transporter activity (GO:0005324), ATP binding (GO:0005524), enzyme binding (GO:0019899), very long-chain fatty acid-CoA ligase activity (GO:0031957), arachidonate-CoA ligase activity (GO:0047676), cholate-CoA ligase activity (GO:0047747), phytanate-CoA ligase activity (GO:0050197), pristanate-CoA ligase activity (GO:0070251), nucleotide binding (GO:0000166), fatty acid transmembrane transporter activity (GO:0015245), ligase activity (GO:0016874)

GO Cellular Component (10): peroxisomal membrane (GO:0005778), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), plasma membrane (GO:0005886), specific granule membrane (GO:0035579), extracellular exosome (GO:0070062), peroxisome (GO:0005777), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Synthesis of bile acids and bile salts	2
Peroxisomal lipid metabolism	2
Fatty acid metabolism	2
Metabolism of lipids	2
Innate Immune System	1
Protein localization	1
Immune System	1
Bile acid and bile salt metabolism	1
Metabolism of steroids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid catabolic process	3
fatty acid metabolic process	3
CoA-ligase activity	3
fatty acid oxidation	2
monocarboxylic acid metabolic process	2
long-chain fatty acid transport	2
fatty acid transport	2
fatty acid-CoA ligase activity	2
cytoplasm	2
cellular anatomical structure	2
fatty acid ligase activity	1
bile acid metabolic process	1
monocarboxylic acid biosynthetic process	1
steroid metabolic process	1
fatty acid beta-oxidation	1
very long-chain fatty acid metabolic process	1
import into cell	1
lipid import into cell	1
fatty-acyl-CoA metabolic process	1
acyl-CoA biosynthetic process	1
fatty acid derivative biosynthetic process	1
primary metabolic process	1
lipid metabolic process	1
transport	1
lipid localization	1
lipid transport	1
monocarboxylic acid transport	1
long-chain fatty acid metabolic process	1
fatty acid transmembrane transporter activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
long-chain fatty acid-CoA ligase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
monocarboxylic acid transmembrane transporter activity	1
lipid transmembrane transporter activity	1
catalytic activity	1
peroxisome	1
microbody membrane	1

Protein interactions and networks

STRING

1920 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC27A2	ABCD1	P33897	912
SLC27A2	ACSL1	P33121	886
SLC27A2	ACSBG1	Q96GR2	872
SLC27A2	ABCD2	Q9UBJ2	834
SLC27A2	ACSL4	O60488	828
SLC27A2	ABCD3	P28288	793
SLC27A2	ABCD4	O14678	748
SLC27A2	COASY	Q13057	737
SLC27A2	AASDH	Q4L235	708
SLC27A2	ACSL3	O95573	673
SLC27A2	CD36	P16671	670
SLC27A2	SCARB1	Q8WTV0	626
SLC27A2	ACOX1	Q15067	626
SLC27A2	SCARB2	Q14108	623
SLC27A2	CPT1A	P50416	594

IntAct

122 interactions, top by confidence:

A	B	Type	Score
SPC24	NDC80	psi-mi:“MI:0914”(association)	0.920
EXOC8	EXOC5	psi-mi:“MI:0914”(association)	0.730
RANBP6	SLC27A2	psi-mi:“MI:0914”(association)	0.640
EIF2B2	SLC27A2	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
PRKCSH	AURKA	psi-mi:“MI:0914”(association)	0.530
GSDME	SLC27A2	psi-mi:“MI:0914”(association)	0.530
MIGA2	SLC27A2	psi-mi:“MI:0914”(association)	0.530
FAM177A1	SLC27A2	psi-mi:“MI:0914”(association)	0.530
LPCAT1	SLC27A2	psi-mi:“MI:0914”(association)	0.530
BCL2L2	SLC27A2	psi-mi:“MI:0914”(association)	0.530
CNPPD1	SLC27A2	psi-mi:“MI:0914”(association)	0.530
HEATR1	SLC27A2	psi-mi:“MI:0914”(association)	0.530
BZW2	SLC27A2	psi-mi:“MI:0914”(association)	0.530
rep	SLC27A2	psi-mi:“MI:0914”(association)	0.530
UNC45A	MYO9A	psi-mi:“MI:0914”(association)	0.530
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.530
HEATR3	SLC27A2	psi-mi:“MI:0914”(association)	0.530

BioGRID (364): SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0D2YG01, A0A0G2K047, A0A0S2E7W3, A0A0S2E7X0, A0A0S6XHF8, A0A1B1ZGB5, A0A1U8QW91, A0A455R7E6, A7MB45, A7XRY0, B0XS72, D7PHZ3, F8P2C8, G3J455, K0E2F3, K3VAW3, O14975, O35488, O42633, O60011, O93800, P16929, P9WEQ8, Q01574, Q01576, Q0CRQ4, Q0CU19, Q14DH7, Q21166, Q2UB01, Q4WAZ0, Q4WLD5, Q4X1D4, Q5B7J0, Q5B7T4, Q5MNI0, Q6BQF2, Q6FLU2, Q758X0, Q7RW48

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, A1JIK3, A1RIK1, A1SZA2, A1U2S9, A1UWN5, A2RYW5, A3D3E8, A3MG40, A3NH07, A3P2K7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
FOXM1	“up-regulates quantity by expression”	SLC27A2
SLC27A2	“up-regulates quantity”	“fatty acyl-CoA”	“chemical modification”
SLC27A2	“up-regulates quantity”	“Fatty acid”	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

109 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	90
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4082115	NM_003645.4(SLC27A2):c.1834del (p.Ala612fs)	Pathogenic

SpliceAI

1461 predictions. Top by Δscore:

Variant	Effect	Δscore
15:50197489:A:AG	acceptor_gain	1.0000
15:50197490:T:G	acceptor_gain	1.0000
15:50197492:A:AG	acceptor_gain	1.0000
15:50197493:A:AG	acceptor_gain	1.0000
15:50197494:A:AG	acceptor_gain	1.0000
15:50197495:T:G	acceptor_gain	1.0000
15:50197498:A:G	acceptor_gain	1.0000
15:50197499:G:GG	acceptor_gain	1.0000
15:50197651:G:GT	donor_gain	1.0000
15:50205236:TA:T	acceptor_loss	1.0000
15:50205237:A:AC	acceptor_loss	1.0000
15:50205237:A:AG	acceptor_gain	1.0000
15:50205237:AG:A	acceptor_gain	1.0000
15:50205237:AGGT:A	acceptor_gain	1.0000
15:50205238:G:GG	acceptor_gain	1.0000
15:50205238:GG:G	acceptor_gain	1.0000
15:50205238:GGT:G	acceptor_gain	1.0000
15:50205238:GGTG:G	acceptor_gain	1.0000
15:50222959:CCACA:C	acceptor_loss	1.0000
15:50222960:CACA:C	acceptor_loss	1.0000
15:50222961:ACAGA:A	acceptor_loss	1.0000
15:50222962:CAG:C	acceptor_loss	1.0000
15:50222963:A:AG	acceptor_gain	1.0000
15:50222963:AGA:A	acceptor_loss	1.0000
15:50222964:G:GG	acceptor_gain	1.0000
15:50222964:GA:G	acceptor_gain	1.0000
15:50225986:A:AG	acceptor_gain	1.0000
15:50225987:G:GG	acceptor_gain	1.0000
15:50225987:GAAA:G	acceptor_gain	1.0000
15:50226974:TCTTA:T	acceptor_loss	1.0000

AlphaMissense

4044 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:50227114:G:C	D465H	0.998
15:50227115:A:C	D465A	0.998
15:50227115:A:G	D465G	0.998
15:50227115:A:T	D465V	0.998
15:50226989:G:A	G423E	0.997
15:50226992:T:C	L424P	0.997
15:50227116:T:A	D465E	0.997
15:50227116:T:G	D465E	0.997
15:50227118:T:C	L466P	0.997
15:50227150:T:C	F477L	0.997
15:50227152:C:A	F477L	0.997
15:50227152:C:G	F477L	0.997
15:50227161:A:C	R480S	0.997
15:50227161:A:T	R480S	0.997
15:50227178:G:C	R486P	0.997
15:50223005:G:A	G338E	0.996
15:50227108:A:C	S463R	0.996
15:50227110:T:A	S463R	0.996
15:50227110:T:G	S463R	0.996
15:50197701:G:A	G227E	0.995
15:50205265:T:C	F292L	0.995
15:50205267:T:A	F292L	0.995
15:50205267:T:G	F292L	0.995
15:50223005:G:T	G338V	0.995
15:50223049:T:C	F353L	0.995
15:50223051:T:A	F353L	0.995
15:50223051:T:G	F353L	0.995
15:50227157:A:T	D479V	0.995
15:50227160:G:T	R480I	0.995
15:50235949:A:C	K572N	0.995

dbSNP variants (sampled 300 via entrez): RS1000082411 (15:50187090 A>G), RS1000117557 (15:50231712 C>T), RS1000120486 (15:50194009 G>C), RS1000142844 (15:50236796 G>A), RS1000174721 (15:50203101 T>C), RS1000191718 (15:50236527 C>G), RS1000204300 (15:50195445 C>A,G,T), RS1000278760 (15:50235088 C>G), RS1000281982 (15:50200442 T>C), RS1000293424 (15:50191699 T>C), RS1000312049 (15:50180986 T>C), RS1000331680 (15:50209783 T>C,G), RS1000400053 (15:50234782 C>G), RS1000400685 (15:50230427 C>T), RS1000528373 (15:50192525 C>T)

Disease associations

OMIM: gene MIM:603247 | disease phenotypes: MIM:143890

GenCC curated gene-disease

Mondo (1): familial hypercholesterolemia (MONDO:0005439)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002701_22	Verbal declarative memory	6.000000e-06
GCST90002402_161	Platelet count	3.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0006805	word list delayed recall measurement
EFO:0006806	paragraph delayed recall measurement
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4326 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.20	IC50	6300	nM	CHEMBL3716578
5.17	IC50	6700	nM	CHEMBL238012

PubChem BioAssay actives

2 with measured affinity, of 44 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-benzyl-3-(4-chlorophenyl)-5-(4-nitrophenyl)-1H-pyrazolo[1,5-a]pyrimidin-7-one	1299532: Inhibition of FATP2 in human HepG2 cells assessed as decrease in fatty acid transport after 5 mins by trypan blue dye based fluorescence quenching method	ic50	6.3000	uM
5-bromo-5’-phenylspiro[1H-indole-3,2’-3H-1,3,4-thiadiazole]-2-one	1299532: Inhibition of FATP2 in human HepG2 cells assessed as decrease in fatty acid transport after 5 mins by trypan blue dye based fluorescence quenching method	ic50	6.7000	uM

CTD chemical–gene interactions

93 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	5
Estradiol	affects expression, affects cotreatment, decreases expression, increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
perfluorooctane sulfonic acid	affects expression, increases expression	3
Zoledronic Acid	decreases expression, increases expression	3
Acetaminophen	affects expression, decreases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
Valproic Acid	increases expression	3
Oleic Acid	decreases expression, increases reaction, affects cotreatment, increases expression	3
Palmitic Acid	affects cotreatment, decreases expression	3
perfluorooctanoic acid	increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
Rosiglitazone	decreases expression, increases expression	2
Methotrexate	increases expression, affects response to substance	2
Phenobarbital	affects expression, increases expression	2
Tetrachlorodibenzodioxin	increases expression, decreases expression	2
Tretinoin	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Cadmium Chloride	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
Vitamin K 3	affects expression	2
5’-bromo-5-phenyl-spiro(3H-1,3,4-thiadiazole-2,3’-indoline)-2’-one	decreases activity	1
perfluorodecanesulfonic acid	increases expression	1
dicrotophos	decreases expression	1
chloroacetaldehyde	decreases expression	1
lead acetate	decreases expression	1
trichostatin A	increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation, decreases methylation	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3807377	Binding	Inhibition of FATP2 in human HepG2 cells assessed as decrease in fatty acid transport after 5 mins by trypan blue dye based fluorescence quenching method	Fatty Acid Transport Proteins: Targeting FATP2 as a Gatekeeper Involved in the Transport of Exogenous Fatty Acids. — Medchemcomm

Cellosaurus cell lines

7 cell lines: 5 cancer cell line, 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4D3	HCT116-SLC27A2-KO-c10	Cancer cell line	Male
CVCL_D4D4	HCT116-SLC27A2-KO-c7	Cancer cell line	Male
CVCL_D4E4	HEK-SLC27A2-KO-c3	Transformed cell line	Female
CVCL_D4E5	HEK-SLC27A2-KO-c5	Transformed cell line	Female
CVCL_TM65	HAP1 SLC27A2 (-) 1	Cancer cell line	Male
CVCL_TM66	HAP1 SLC27A2 (-) 2	Cancer cell line	Male
CVCL_TM67	HAP1 SLC27A2 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

110 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00655265	PHASE4	COMPLETED	A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication
NCT00916643	PHASE4	COMPLETED	Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy
NCT03331666	PHASE4	TERMINATED	Impact of LDL-cholesterol Lowering on Platelet Activation
NCT05465278	PHASE4	COMPLETED	Alirocumab and Plaque Burden In Familial Hypercholesterolaemia
NCT00355615	PHASE3	COMPLETED	PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin
NCT00552097	PHASE3	COMPLETED	Effect of Ezetimibe Plus Simvastatin Versus Simvastatin Alone on Atherosclerosis in the Carotid Artery (ENHANCE)(P02578)
NCT00607373	PHASE3	COMPLETED	Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
NCT00694109	PHASE3	COMPLETED	An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia
NCT00827606	PHASE3	COMPLETED	Atorvastatin Three Year Pediatric Study
NCT00943306	PHASE3	COMPLETED	Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT01813006	PHASE3	COMPLETED	Effect of Omega-3 Fatty Acid on Endothelial Function
NCT01841684	PHASE3	TERMINATED	Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042)
NCT02624869	PHASE3	COMPLETED	Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia)
NCT02748057	PHASE3	COMPLETED	A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833)
NCT03884452	PHASE3	COMPLETED	Ezetimibe (SCH 58235) Taken With Either Atorvastatin or Simvastatin in Participants With Familial Hypercholesterolemia (MK-0653-018)
NCT04798430	PHASE3	ENROLLING_BY_INVITATION	Long-term Efficacy and Safety of OLE LIB003 in HoFH, HeFH, and High-risk CVD Patients Requiring Further LDL-C Reduction
NCT05142722	PHASE3	COMPLETED	Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies
NCT05238519	PHASE3	ACTIVE_NOT_RECRUITING	Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
NCT05425745	PHASE3	COMPLETED	Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.
NCT05952856	PHASE3	COMPLETED	A Study of Enlicitide Decanoate (MK-0616 Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-013) CORALreef Lipids
NCT05952869	PHASE3	COMPLETED	A Study of Enlicitide Decanoate (MK-0616 Oral PCSK9 Inhibitor) in Adults With Heterozygous Familial Hypercholesterolemia (MK-0616-017/CORALreef HeFH)
NCT06005597	PHASE3	COMPLETED	Study of Obicetrapib & Ezetimibe Fixed Dose Combination on Top of Maximum Tolerated Lipid-Modifying Therapies
NCT00079846	PHASE2	TERMINATED	Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy
NCT00079859	PHASE2	TERMINATED	Implitapide in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) on Maximal Concurrent Lipid-Lowering Therapy
NCT00477594	PHASE2	COMPLETED	Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia
NCT00751608	PHASE2	WITHDRAWN	Effect of APL180 on Endothelial Function in Familial Hypercholesterolemia Patients
NCT02597127	PHASE2	COMPLETED	Trial to Evaluate the Effect of ALN-PCSSC Treatment on Low Density Lipoprotein Cholesterol (LDL-C)
NCT03060577	PHASE2	COMPLETED	An Extension Trial of Inclisiran in Participants With Cardiovascular Disease and High Cholesterol
NCT04455581	PHASE2	UNKNOWN	A Study to Determine the Safety, Tolerability, and Efficacy of SHR-1209 in Patients With Familial Hypercholesterolemia
NCT04941599	PHASE2	RECRUITING	2-Hydroxybenzylamine (2-HOBA) to Reduce HDL Modification and Improve HDL Function in Familial Hypercholesterolemia (FH)
NCT05261126	PHASE2	COMPLETED	A Study of the Efficacy and Safety of Enclitide Chloride (MK-0616 Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-008)
NCT00004809	PHASE1	COMPLETED	Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia
NCT02709850	PHASE1	COMPLETED	Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IONIS ANGPTL3-LRx in Healthy Volunteers With Elevated Triglycerides and Participants With Familial Hypercholesterolemia
NCT03747224	PHASE1	COMPLETED	Study of ARO-ANG3 in Healthy Volunteers and in Dyslipidemic Patients
NCT05043181	PHASE1	NOT_YET_RECRUITING	Exosome-based Nanoplatform for Ldlr mRNA Delivery in FH
NCT05851066	PHASE1	COMPLETED	A VSA003 Phase 1 Study in Chinese Adult Healthy Volunteers
NCT02048410	PHASE1/PHASE2	COMPLETED	Efficacy of a New Symbiotic Formulation in Children With Familial Hypercholesterolemia
NCT02100839	PHASE1/PHASE2	COMPLETED	Safety Study of AEM-28 to Treat Refractory Hypercholesterolemia
NCT03832985	EARLY_PHASE1	COMPLETED	Pediatric Reporting of Adult-Onset Genomic Results