SLC7A2

Summary

SLC7A2 (solute carrier family 7 member 2, HGNC:11060) is a protein-coding gene on chromosome 8p22, encoding Cationic amino acid transporter 2 (P52569). Functions as a permease involved in the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine); the affinity for its substrates differs between isoforms created by alternative splicing.

The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6542 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 150 total
• MANE Select transcript: NM_001370338

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11060
Approved symbol	SLC7A2
Name	solute carrier family 7 member 2
Location	8p22
Locus type	gene with protein product
Status	Approved
Aliases	CAT-2, HCAT2, SLC7A2A, SLC7A2B, CAT-2A, CAT-2B
Ensembl gene	ENSG00000003989
Ensembl biotype	protein_coding
OMIM	601872
Entrez	6542

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 18 protein_coding

ENST00000004531, ENST00000398090, ENST00000470360, ENST00000494857, ENST00000522656, ENST00000640220, ENST00000908539, ENST00000908540, ENST00000908541, ENST00000908542, ENST00000908543, ENST00000908544, ENST00000915126, ENST00000915127, ENST00000915128, ENST00000965690, ENST00000965691, ENST00000965692

RefSeq mRNA: 5 — MANE Select: NM_001370338 NM_001008539, NM_001164771, NM_001370337, NM_001370338, NM_003046

CCDS: CCDS34852, CCDS55203, CCDS6002, CCDS94262

Canonical transcript exons

ENST00000494857 — 13 exons

Exon	Start	End
ENSE00000000055	17564950	17570566
ENSE00000457144	17544451	17544606
ENSE00000457145	17548678	17548843
ENSE00000888729	17563603	17563711
ENSE00000888730	17561944	17562110
ENSE00000888731	17560328	17560533
ENSE00000888732	17558295	17558397
ENSE00000888733	17554560	17554699
ENSE00000924832	17550301	17550434
ENSE00000924833	17551764	17551986
ENSE00001826862	17497088	17497237
ENSE00001841976	17502257	17502302
ENSE00003483589	17543318	17543715

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.8532 / max 425.1584, expressed in 1029 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87541	10.1165	1002
87542	1.5800	573
87545	0.1567	82

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.44	gold quality
biceps brachii	UBERON:0001507	97.28	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.14	gold quality
islet of Langerhans	UBERON:0000006	96.66	gold quality
right lobe of liver	UBERON:0001114	96.63	gold quality
trigeminal ganglion	UBERON:0001675	96.17	gold quality
gastrocnemius	UBERON:0001388	96.08	gold quality
bronchial epithelial cell	CL:0002328	95.99	gold quality
muscle of leg	UBERON:0001383	95.67	gold quality
pigmented layer of retina	UBERON:0001782	95.64	gold quality
right ovary	UBERON:0002118	95.50	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.40	gold quality
left ovary	UBERON:0002119	95.36	gold quality
pericardium	UBERON:0002407	94.62	gold quality
decidua	UBERON:0002450	94.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.78	gold quality
body of pancreas	UBERON:0001150	93.50	gold quality
liver	UBERON:0002107	93.50	gold quality
cartilage tissue	UBERON:0002418	93.48	gold quality
pancreas	UBERON:0001264	93.22	gold quality
ovary	UBERON:0000992	92.89	gold quality
caput epididymis	UBERON:0004358	92.72	gold quality
calcaneal tendon	UBERON:0003701	92.30	gold quality
tibia	UBERON:0000979	92.29	gold quality
skeletal muscle organ	UBERON:0014892	91.62	gold quality
muscle organ	UBERON:0001630	91.59	gold quality
body of tongue	UBERON:0011876	91.52	gold quality
tibial nerve	UBERON:0001323	91.36	gold quality
synovial joint	UBERON:0002217	91.06	gold quality
tendon	UBERON:0000043	90.26	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-10283	yes	991.63
E-MTAB-10018	yes	267.38
E-MTAB-10885	yes	250.39
E-MTAB-5061	yes	33.67
E-HCAD-31	yes	32.34
E-GEOD-81547	yes	23.37
E-GEOD-81608	yes	18.04
E-GEOD-83139	yes	13.28
E-ENAD-27	yes	11.46
E-MTAB-6678	yes	9.94
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

167 targeting SLC7A2, 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-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8075	99.97	67.20	962

Literature-anchored findings (GeneRIF, showing 18)

• analysis of the genomic organization (PMID:11665818)
• Keratinocytes express cationic amino acid transporters 1 and 2. Cationic amino acid transporter mediated L-arginine essential for inducible nitric oxide synthase and arginase enzyme, which modulate proliferation and differentiation of epidermal cells. (PMID:12787129)
• Insulin increased L-arginine transport and the mRNA levels for hCAT-1 and hCAT-2B (PMID:15064952)
• distribution of human cationic amino acid transporters 1 (hCAT1) and 2 (hCAT2) in healthy skin and compared it to psoriatic skin lesions by means of immunohistochemistry (PMID:18172665)
• Activation of PKCalpha by phorbol esters or thymeleatoxin causes a transient increase of arginine transport through system y(+), referable to the induction of SLC7A2 mRNAs and to the increased expression of CAT2 transporters. (PMID:20430034)
• Addition of spermine or knockdown of CAT2 inhibited L-Arg uptake, NO production, and iNOS protein levels, whereas knockdown of ODC had the opposite effect. CAT2 and ODC were increased in mouse and human H pylori gastritis tissues. (PMID:20600019)
• A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. (PMID:22787143)
• CAT1, CAT2, and CAT3 localized in adult brains but with uneven distribution. (PMID:22870827)
• Identification of cysteine residues in human cationic amino acid transporter hCAT-2A that are targets for inhibition by N-ethylmaleimide. (PMID:24019517)
• genetic association studies in population in Tennessee: Data suggest that an SNP in SLC7A2 (rs2720574) is associated with response to dietary calcium and magnesium in prevention of colorectal polyps and colorectal ademonas. (PMID:28501704)
• L-homoarginine is a substrate of the cationic amino acid transporters CAT1, CAT2A and CAT2B. (PMID:28684763)
• Human cationic amino acid transporters are not affected by direct nitros(yl)ation. (PMID:32008093)
• SLC7A2 serves as a potential biomarker and therapeutic target for ovarian cancer. (PMID:32647070)
• SLC7A2 deficiency promotes hepatocellular carcinoma progression by enhancing recruitment of myeloid-derived suppressors cells. (PMID:34108444)
• Lower SLC7A2 expression is associated with enhanced multidrug resistance, less immune infiltrates and worse prognosis of NSCLC. (PMID:36639771)
• Integrated Amino Acids and Transcriptome Analysis Reveals Arginine Transporter SLC7A2 Is a Novel Regulator of Myogenic Differentiation. (PMID:38203268)
• Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington’s disease. (PMID:38419038)
• SLC7A2-Mediated Lysine Catabolism Inhibits Immunosuppression in Triple Negative Breast Cancer. (PMID:38842202)

Cross-species orthologs

17 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc7a2	ENSDARG00000037097
mus_musculus	Slc7a2	ENSMUSG00000031596
rattus_norvegicus	Slc7a2	ENSRNOG00000011016
drosophila_melanogaster	mnd	FBGN0002778
drosophila_melanogaster	sbm	FBGN0030574
drosophila_melanogaster	CG7255	FBGN0036493
drosophila_melanogaster	CG5535	FBGN0036764
drosophila_melanogaster	CG13248	FBGN0036984
drosophila_melanogaster	slif	FBGN0037203
drosophila_melanogaster	CG1607	FBGN0039844
caenorhabditis_elegans		WBGENE00000002
caenorhabditis_elegans		WBGENE00000003
caenorhabditis_elegans		WBGENE00000005
caenorhabditis_elegans	aat-9	WBGENE00000010
caenorhabditis_elegans		WBGENE00015197
caenorhabditis_elegans		WBGENE00016806
caenorhabditis_elegans		WBGENE00017747

Paralogs (12): SLC7A14 (ENSG00000013293), SLC7A9 (ENSG00000021488), SLC7A8 (ENSG00000092068), SLC7A4 (ENSG00000099960), SLC7A6 (ENSG00000103064), SLC7A5 (ENSG00000103257), SLC7A10 (ENSG00000130876), SLC7A1 (ENSG00000139514), SLC7A11 (ENSG00000151012), SLC7A7 (ENSG00000155465), SLC7A13 (ENSG00000164893), SLC7A3 (ENSG00000165349)

Protein

Protein identifiers

Cationic amino acid transporter 2 — P52569 (reviewed: P52569)

Alternative names: Low affinity cationic amino acid transporter 2, Solute carrier family 7 member 2

All UniProt accessions (3): P52569, A0A1W2PR06, A0A9H4ATX5

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a permease involved in the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine); the affinity for its substrates differs between isoforms created by alternative splicing. May play a role in classical or alternative activation of macrophages via its role in arginine transport. Functions as a permease that mediates the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine). Shows a much higher affinity for L-arginine and L-homoarginine than isoform 2. Functions as a low-affinity, high capacity permease involved in the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine).

Subcellular location. Cell membrane.

Tissue specificity. Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart.

Similarity. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.

Isoforms (3)

UniProt ID	Names	Canonical?
P52569-1	1, CAT-2B, CAT2B, SLC7A2B	yes
P52569-2	2, CAT-2A, CAT2A, SLC7A2A
P52569-3	3

RefSeq proteins (5): NP_001008539, NP_001158243, NP_001357266, NP_001357267, NP_003037 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002293	AA/rel_permease1	Family
IPR004755	Cat_AA_permease	Family
IPR029485	CAT_C	Domain

Pfam: PF13520, PF13906

Catalyzed reactions (Rhea), 4 shown:

• L-arginine(in) = L-arginine(out) (RHEA:32143)
• L-lysine(in) = L-lysine(out) (RHEA:70935)
• L-ornithine(in) = L-ornithine(out) (RHEA:71199)
• L-homoarginine(in) = L-homoarginine(out) (RHEA:71203)

UniProt features (54 total): topological domain 15, transmembrane region 14, sequence conflict 8, modified residue 7, sequence variant 4, glycosylation site 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P52569-F1	81.15	0.53

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 (7): 24, 28, 446, 455, 464, 646, 647

Glycosylation sites (3): 157, 227, 239

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-352230	Amino acid transport across the plasma membrane

MSigDB gene sets: 173 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_CIRCULATORY_SYSTEM_PROCESS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, HINATA_NFKB_TARGETS_KERATINOCYTE_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, FOSTER_TOLERANT_MACROPHAGE_DN, WANG_LMO4_TARGETS_DN, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, TGCTGAY_UNKNOWN, GOBP_AMINO_ACID_TRANSPORT, GRE_C

GO Biological Process (10): amino acid transport (GO:0006865), L-amino acid transport (GO:0015807), amino acid import across plasma membrane (GO:0089718), L-arginine import across plasma membrane (GO:0097638), transport across blood-brain barrier (GO:0150104), L-alpha-amino acid transmembrane transport (GO:1902475), L-ornithine transmembrane transport (GO:1903352), L-arginine transmembrane transport (GO:1903826), transmembrane transport (GO:0055085), L-lysine transmembrane transport (GO:1903401)

GO Molecular Function (7): L-ornithine transmembrane transporter activity (GO:0000064), amino acid transmembrane transporter activity (GO:0015171), basic amino acid transmembrane transporter activity (GO:0015174), L-amino acid transmembrane transporter activity (GO:0015179), L-lysine transmembrane transporter activity (GO:0015189), L-arginine transmembrane transporter activity (GO:0061459), transmembrane transporter activity (GO:0022857)

GO Cellular Component (3): plasma membrane (GO:0005886), cell junction (GO:0030054), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
SLC-mediated transport of amino acids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
L-alpha-amino acid transmembrane transport	4
amino acid transmembrane transport	3
L-amino acid transmembrane transporter activity	3
transport	2
L-arginine transmembrane transport	2
basic amino acid transmembrane transport	2
amino acid transmembrane transporter activity	2
basic amino acid transmembrane transporter activity	2
cellular anatomical structure	2
amino acid transport	1
carboxylic acid transport	1
nitrogen compound transport	1
import across plasma membrane	1
amino acid import across plasma membrane	1
vascular transport	1
L-amino acid transport	1
carboxylic acid transmembrane transport	1
ornithine transport	1
cellular process	1
L-lysine transport	1
L-ornithine transmembrane transport	1
transmembrane transporter activity	1
carboxylic acid transmembrane transporter activity	1
L-lysine transmembrane transport	1
transporter activity	1
transmembrane transport	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1328 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC7A2	ARG1	P05089	833
SLC7A2	ARG2	P78540	825
SLC7A2	SLC1A1	P43005	539
SLC7A2	SLC1A5	Q15758	527
SLC7A2	SLC38A2	Q96QD8	505
SLC7A2	SLC2A1	P11166	499
SLC7A2	SLC38A4	Q969I6	482
SLC7A2	ASS1	P00966	477
SLC7A2	SLC1A4	P43007	469
SLC7A2	ADAR	P55265	462
SLC7A2	SLC43A2	Q8N370	455
SLC7A2	SLC1A7	O00341	450
SLC7A2	GCH1	P30793	433
SLC7A2	SLC3A2	P08195	431
SLC7A2	SLC44A1	Q8WWI5	429

IntAct

71 interactions, top by confidence:

A	B	Type	Score
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
GABRE	FZD6	psi-mi:“MI:0914”(association)	0.530
MFSD4A	HIP1R	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
CYP2C18	CYP2C9	psi-mi:“MI:0914”(association)	0.530
SLC7A1	STXBP3	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
PCNA	SLC7A2	psi-mi:“MI:0915”(physical association)	0.370
NTRK1	ILVBL	psi-mi:“MI:0914”(association)	0.350
ATP6V0E1	ATP6AP2	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
AVPR2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350

BioGRID (186): SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Synthetic Growth Defect), SLC7A2 (Proximity Label-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNI9, A8I499, B0UYF2, B3TP03, B5D5N9, O08812, O54701, O64759, O80668, P18581, P30823, P30825, P31637, P52569, P53793, P53794, P70423, Q08469, Q09143, Q09573, Q28677, Q28E01, Q5PR34, Q5R9C2, Q5RK27, Q63632, Q63633, Q6A4L1, Q6DCE8, Q80UP8, Q84MA5, Q8BG16, Q8BXR1, Q8GYB4, Q8TBB6, Q8W4K3, Q8WY07, Q91V14, Q924N4, Q9ASS7

Diamond homologs: A0JNI9, A8I499, B0UYF2, B3TP03, B5D5N9, O07576, O08812, O43246, O64759, P18581, P30823, P30825, P52569, P70423, Q09143, Q5PR34, Q6DCE8, Q797A7, Q84MA5, Q8BLQ7, Q8BXR1, Q8GYB4, Q8TBB6, Q8W4K3, Q8WY07, Q9C5D6, Q9LZ20, Q9SHH0, Q9SQZ0, Q8MH63, Q9ASS7, Q9GIP4, A0A1D8PPG4, A0A1D8PPI5, A2RHI9, P43059, P37103, A1L3M3, D3ZMM8, O34739

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
complement receptor mediated signaling pathway	5	71.1×	4e-06
chemotaxis	7	12.0×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	7
Benign	13

Top pathogenic / likely-pathogenic (0)

SpliceAI

2344 predictions. Top by Δscore:

Variant	Effect	Δscore
8:17497233:CCCCA:C	donor_gain	1.0000
8:17497234:CCCA:C	donor_gain	1.0000
8:17497235:CCA:C	donor_gain	1.0000
8:17497236:CAGT:C	donor_loss	1.0000
8:17497237:AG:A	donor_loss	1.0000
8:17497238:G:GG	donor_gain	1.0000
8:17497239:T:A	donor_loss	1.0000
8:17544444:T:TA	acceptor_gain	1.0000
8:17544445:G:A	acceptor_gain	1.0000
8:17548759:T:TA	acceptor_gain	1.0000
8:17550299:A:AG	acceptor_gain	1.0000
8:17550300:G:GG	acceptor_gain	1.0000
8:17550300:GA:G	acceptor_gain	1.0000
8:17550300:GAGA:G	acceptor_gain	1.0000
8:17551759:CTTAG:C	acceptor_loss	1.0000
8:17551760:TTAG:T	acceptor_loss	1.0000
8:17551761:TAGGT:T	acceptor_loss	1.0000
8:17551762:A:AG	acceptor_gain	1.0000
8:17551762:A:T	acceptor_loss	1.0000
8:17551763:G:GG	acceptor_gain	1.0000
8:17558290:CCTA:C	acceptor_loss	1.0000
8:17558293:A:AG	acceptor_gain	1.0000
8:17558293:AGCTT:A	acceptor_loss	1.0000
8:17558294:G:GA	acceptor_gain	1.0000
8:17558294:GC:G	acceptor_gain	1.0000
8:17558294:GCT:G	acceptor_gain	1.0000
8:17558294:GCTT:G	acceptor_gain	1.0000
8:17558294:GCTTT:G	acceptor_gain	1.0000
8:17558399:T:G	donor_loss	1.0000
8:17561942:A:AG	acceptor_gain	1.0000

AlphaMissense

4276 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:17543455:T:C	L39P	1.000
8:17543466:G:C	G43R	1.000
8:17543484:G:A	G49R	1.000
8:17543484:G:C	G49R	1.000
8:17543484:G:T	G49W	1.000
8:17543688:T:A	W117R	1.000
8:17543688:T:C	W117R	1.000
8:17543695:T:C	L119P	1.000
8:17550394:C:G	C264W	1.000
8:17550395:T:C	F265L	1.000
8:17550397:T:A	F265L	1.000
8:17550397:T:G	F265L	1.000
8:17550410:G:A	G270R	1.000
8:17550410:G:C	G270R	1.000
8:17550411:G:A	G270E	1.000
8:17550413:T:C	F271L	1.000
8:17550414:T:C	F271S	1.000
8:17550415:T:A	F271L	1.000
8:17550415:T:G	F271L	1.000
8:17543440:T:C	L34S	0.999
8:17543455:T:A	L39H	0.999
8:17543464:T:C	L42P	0.999
8:17543467:G:A	G43D	0.999
8:17543472:G:A	G45R	0.999
8:17543472:G:C	G45R	0.999
8:17543473:G:A	G45E	0.999
8:17543485:G:A	G49E	0.999
8:17543490:G:A	G51R	0.999
8:17543490:G:C	G51R	0.999
8:17543490:G:T	G51W	0.999

dbSNP variants (sampled 300 via entrez): RS1000045657 (8:17495616 C>G), RS1000155886 (8:17503367 A>C), RS1000175570 (8:17545605 C>G,T), RS1000198678 (8:17562335 A>T), RS1000228886 (8:17567515 G>T), RS1000238100 (8:17515666 A>C,G), RS1000274336 (8:17522121 G>A,T), RS1000286089 (8:17507540 T>G), RS1000310414 (8:17505850 A>G), RS1000325652 (8:17511700 A>G), RS1000344673 (8:17530601 C>G,T), RS1000395965 (8:17545854 T>C), RS1000396469 (8:17501962 G>C), RS1000418522 (8:17567551 T>C), RS1000423443 (8:17532463 C>G,T)

Disease associations

OMIM: gene MIM:601872 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): myoepithelial tumor (MONDO:0002380)

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST002448_3	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	9.000000e-07
GCST002951_11	Response to zileuton treatment in asthma (FEV1 change interaction)	3.000000e-07
GCST006627_54	Diastolic blood pressure	5.000000e-10
GCST007004_2	Hippocampal volume in normal cognition	5.000000e-09
GCST007382_18	Plasma free amino acid levels (adjusted for twenty other PFAAs)	5.000000e-14
GCST007382_3	Plasma free amino acid levels (adjusted for twenty other PFAAs)	3.000000e-16
GCST007383_11	Plasma free amino acid levels (adjusted for one other PFAA)	1.000000e-06
GCST007383_12	Plasma free amino acid levels (adjusted for one other PFAA)	3.000000e-06
GCST007383_29	Plasma free amino acid levels (adjusted for one other PFAA)	4.000000e-09
GCST007383_30	Plasma free amino acid levels (adjusted for one other PFAA)	3.000000e-08
GCST007383_32	Plasma free amino acid levels (adjusted for one other PFAA)	1.000000e-07
GCST007383_33	Plasma free amino acid levels (adjusted for one other PFAA)	1.000000e-07
GCST007383_34	Plasma free amino acid levels (adjusted for one other PFAA)	2.000000e-07
GCST007383_35	Plasma free amino acid levels (adjusted for one other PFAA)	4.000000e-07
GCST007385_33	Plasma free amino acid levels	1.000000e-07
GCST008155_13	Waist-hip ratio	7.000000e-06
GCST009391_813	Metabolite levels	1.000000e-06

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0005921	FEV change measurement
EFO:0006336	diastolic blood pressure
EFO:0005035	hippocampal volume
EFO:0005134	amino acid measurement
EFO:0009776	ornithine measurement
EFO:0006524	L-arginine measurement
EFO:0004343	waist-hip ratio
EFO:0010397	sphingomyelin 24:0 measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585

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 — SLC7 family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, decreases methylation, affects cotreatment	7
Estradiol	decreases expression, increases expression, affects cotreatment	5
bisphenol A	increases expression	3
trichostatin A	affects cotreatment, increases expression	3
Tretinoin	decreases expression, increases expression	3
Cyclosporine	affects expression, increases expression	3
Particulate Matter	increases abundance, decreases expression, increases expression	3
sodium arsenite	increases abundance, increases expression, affects cotreatment	2
mercuric bromide	increases expression, affects cotreatment	2
Air Pollutants	increases oxidation, decreases expression, affects cotreatment, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression	2
Asbestos, Crocidolite	affects expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment, decreases expression	1
nickel chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
tri-o-cresyl phosphate	increases expression	1
cupric chloride	increases expression	1
benazol P	affects expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
diallyl trisulfide	increases expression	1
picene	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases 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
3-iodothyronamine	affects uptake	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4UJ	HuH7-SLC7A2-KO-c4	Cancer cell line	Male
CVCL_D4UK	HuH7-SLC7A2-KO-c5	Cancer cell line	Male
CVCL_E0P3	Ubigene HeLa SLC7A2 KO	Cancer cell line	Female
CVCL_TP10	HAP1 SLC7A2 (-) 1	Cancer cell line	Male
CVCL_TP11	HAP1 SLC7A2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03600649	PHASE1	UNKNOWN	Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas
NCT05266196	PHASE1/PHASE2	UNKNOWN	A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577)
NCT06239272	PHASE1/PHASE2	RECRUITING	NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT06244420	Not specified	COMPLETED	Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis