SLC7A6

Summary

SLC7A6 (solute carrier family 7 member 6, HGNC:11064) is a protein-coding gene on chromosome 16q22.1, encoding Y+L amino acid transporter 2 (Q92536). Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids such as L-arginine from inside the cells in exchange with neutral amino acids like L-leucine, L-glutamine and isoleucine, plus sodium ions and may partici….

Enables L-lysine:L-arginine antiporter activity and arginine binding activity. Involved in L-arginine transmembrane transport; L-leucine transport; and ornithine transport. Predicted to be located in plasma membrane.

Source: NCBI Gene 9057 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_003983

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11064
Approved symbol	SLC7A6
Name	solute carrier family 7 member 6
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	y+LAT-2, KIAA0245, LAT3, LAT-2
Ensembl gene	ENSG00000103064
Ensembl biotype	protein_coding
OMIM	605641
Entrez	9057

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 20 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron

ENST00000219343, ENST00000379152, ENST00000562727, ENST00000562863, ENST00000563080, ENST00000563146, ENST00000563208, ENST00000564708, ENST00000566454, ENST00000566579, ENST00000566834, ENST00000567325, ENST00000567346, ENST00000568024, ENST00000568088, ENST00000618043, ENST00000648130, ENST00000903450, ENST00000903451, ENST00000903452, ENST00000928646, ENST00000928647, ENST00000928648, ENST00000928649, ENST00000963267, ENST00000963268, ENST00000963269, ENST00000963270

RefSeq mRNA: 2 — MANE Select: NM_003983 NM_001076785, NM_003983

CCDS: CCDS32470

Canonical transcript exons

ENST00000219343 — 11 exons

Exon	Start	End
ENSE00000691805	68290396	68290540
ENSE00001310370	68274691	68275249
ENSE00001399849	68266593	68266721
ENSE00001414924	68264526	68264576
ENSE00001628262	68297234	68301819
ENSE00003526197	68294705	68294801
ENSE00003577702	68296364	68296513
ENSE00003637599	68287746	68287871
ENSE00003684761	68296627	68296810
ENSE00003691436	68291558	68291661
ENSE00003693389	68291209	68291332

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 96.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1093 / max 136.7384, expressed in 1777 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154729	11.8030	1759
154730	1.0834	563
154727	0.5004	266
154728	0.3065	144
154735	0.2343	37
207926	0.1818	76

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	96.12	gold quality
gastrocnemius	UBERON:0001388	95.83	gold quality
muscle of leg	UBERON:0001383	94.36	gold quality
mucosa of stomach	UBERON:0001199	93.71	gold quality
subcutaneous adipose tissue	UBERON:0002190	93.62	gold quality
tibialis anterior	UBERON:0001385	93.13	gold quality
adipose tissue	UBERON:0001013	92.04	gold quality
heart left ventricle	UBERON:0002084	91.80	gold quality
tibial nerve	UBERON:0001323	91.70	gold quality
cardiac ventricle	UBERON:0002082	91.41	gold quality
connective tissue	UBERON:0002384	91.30	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.21	gold quality
omental fat pad	UBERON:0010414	91.09	gold quality
left lobe of thyroid gland	UBERON:0001120	91.07	gold quality
muscle organ	UBERON:0001630	91.07	gold quality
right atrium auricular region	UBERON:0006631	91.06	gold quality
peritoneum	UBERON:0002358	91.01	gold quality
right lobe of thyroid gland	UBERON:0001119	90.49	gold quality
cardiac atrium	UBERON:0002081	90.33	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.98	gold quality
thyroid gland	UBERON:0002046	89.67	gold quality
heart	UBERON:0000948	89.56	gold quality
colonic epithelium	UBERON:0000397	88.57	gold quality
lymph node	UBERON:0000029	88.41	gold quality
tibia	UBERON:0000979	87.94	gold quality
granulocyte	CL:0000094	87.63	gold quality
adenohypophysis	UBERON:0002196	87.57	gold quality
thymus	UBERON:0002370	87.53	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.50	gold quality
lower esophagus	UBERON:0013473	87.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	12.82
E-ANND-3	yes	7.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

138 targeting SLC7A6, 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-4533	100.00	69.48	2758
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-3919	99.87	69.45	2489

Literature-anchored findings (GeneRIF, showing 9)

• LAT3 may play a crucial role in the development and maintenance of podocyte structure and function by regulating protein synthesis and the actin cytoskeleton. (PMID:19443642)
• Data show that signaling via the androgen receptor and ATF4 pathways regulates expression of the amino acid transporters LAT1 and LAT3, thereby coordinating their increased expression in prostate cancer cells. (PMID:22007000)
• L-theanine is transported mostly via the system L transport pathway and its isoforms (PMID:23221699)
• Inhibition of LAT transporters may provide a novel therapeutic target in metastatic castration-resistant prostate cancer, via suppression of mammalian target of rapamycin complex 1 activity and M-phase cell cycle genes. (PMID:24052624)
• Results suggest that leukemia cell proliferation can be significantly suppressed by blocking amino acid transporter LAT3. (PMID:24142711)
• Growth factor-activated PI3K/Akt signalling pathway regulates leucine transport through LAT3 in prostate cancer cell lines (PMID:31345230)
• y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance. (PMID:31705628)
• Functional analysis of LAT3 in prostate cancer: Its downstream target and relationship with androgen receptor. (PMID:34050700)
• STAT5A modulates CDYL2/SLC7A6 pathway to inhibit the proliferation and invasion of hepatocellular carcinoma by targeting to mTORC1. (PMID:35314791)

Cross-species orthologs

14 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc7a6	ENSDARG00000054423
mus_musculus	Slc7a6	ENSMUSG00000031904
rattus_norvegicus	Slc7a6	ENSRNOG00000019943
drosophila_melanogaster	mnd	FBGN0002778
drosophila_melanogaster	CG7255	FBGN0036493
drosophila_melanogaster	CG5535	FBGN0036764
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		WBGENE00017747

Paralogs (12): SLC7A2 (ENSG00000003989), SLC7A14 (ENSG00000013293), SLC7A9 (ENSG00000021488), SLC7A8 (ENSG00000092068), SLC7A4 (ENSG00000099960), SLC7A5 (ENSG00000103257), SLC7A10 (ENSG00000130876), SLC7A1 (ENSG00000139514), SLC7A11 (ENSG00000151012), SLC7A7 (ENSG00000155465), SLC7A13 (ENSG00000164893), SLC7A3 (ENSG00000165349)

Protein

Protein identifiers

Y+L amino acid transporter 2 — Q92536 (reviewed: Q92536)

Alternative names: Cationic amino acid transporter, y+ system, Solute carrier family 7 member 6, y(+)L-type amino acid transporter 2

All UniProt accessions (11): Q92536, E7EPZ8, H3BNF5, H3BPK5, H3BPV6, H3BRZ8, H3BSB6, H3BSV7, H3BUA4, H3BUR2, J3QL60

UniProt curated annotations — full annotation on UniProt →

Function. Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids such as L-arginine from inside the cells in exchange with neutral amino acids like L-leucine, L-glutamine and isoleucine, plus sodium ions and may participate in nitric oxide synthesis. Also exchanges L-arginine with L-lysine in a sodium-independent manner. The transport mechanism is electroneutral and operates with a stoichiometry of 1:1. Contributes to ammonia-induced increase of L-arginine uptake in cerebral cortical astrocytes leading to ammonia-dependent increase of nitric oxide (NO) production via inducible nitric oxide synthase (iNOS) induction, and protein nitration. May mediate transport of ornithine in retinal pigment epithelial (RPE) cells. May also transport glycine betaine in a sodium dependent manner from the cumulus granulosa into the enclosed oocyte.

Subunit / interactions. Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines. Expressed in brain, heart, testis, kidney, small intestine and parotis. Highly expressed in T lymphocytes.

Activity regulation. Arginine transport is strongly inhibited by lysine, glutamate, leucine, glutamine, methionine and histidine, in the presence of Na(+). Also inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).

Similarity. Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.

RefSeq proteins (2): NP_001070253, NP_003974* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002293	AA/rel_permease1	Family
IPR050598	AminoAcid_Transporter	Family

Pfam: PF13520

Catalyzed reactions (Rhea), 6 shown:

• L-lysine(out) + L-arginine(in) = L-lysine(in) + L-arginine(out) (RHEA:70827)
• L-leucine(out) + L-arginine(in) + Na(+)(out) = L-leucine(in) + L-arginine(out) + Na(+)(in) (RHEA:70831)
• L-glutamine(out) + L-arginine(in) + Na(+)(out) = L-glutamine(in) + L-arginine(out) + Na(+)(in) (RHEA:70835)
• L-histidine(out) + L-arginine(in) + Na(+)(out) = L-histidine(in) + L-arginine(out) + Na(+)(in) (RHEA:70839)
• L-arginine(in) + L-methionine(out) + Na(+)(out) = L-arginine(out) + L-methionine(in) + Na(+)(in) (RHEA:70843)
• L-cysteine(out) + L-arginine(in) + Na(+)(out) = L-cysteine(in) + L-arginine(out) + Na(+)(in) (RHEA:70847)

UniProt features (30 total): topological domain 13, transmembrane region 12, sequence conflict 2, chain 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9LDR	ELECTRON MICROSCOPY	3.58
9KY5	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92536-F1	83.01	0.47

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 (1): 30

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-210991	Basigin interactions
R-HSA-352230	Amino acid transport across the plasma membrane

MSigDB gene sets: 260 (showing top): ELVIDGE_HYPOXIA_DN, chr16q22, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_AMINO_ACID_BETAINE_TRANSPORT, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_ORGANIC_ACID_TRANSPORT, PUJANA_CHEK2_PCC_NETWORK, GOBP_REACTIVE_NITROGEN_SPECIES_METABOLIC_PROCESS, GOBP_QUATERNARY_AMMONIUM_GROUP_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_AMINO_ACID_TRANSPORT, GOBP_BASIC_AMINO_ACID_TRANSPORT, ACATTCC_MIR1_MIR206, GOBP_ORGANIC_ANION_TRANSPORT

GO Biological Process (11): amino acid transmembrane transport (GO:0003333), nitric oxide biosynthetic process (GO:0006809), neutral amino acid transport (GO:0015804), L-leucine transport (GO:0015820), ornithine transport (GO:0015822), glycine betaine transport (GO:0031460), L-arginine transmembrane transport (GO:1903826), amino acid transport (GO:0006865), transmembrane transport (GO:0055085), L-alpha-amino acid transmembrane transport (GO:1902475), L-lysine transmembrane transport (GO:1903401)

GO Molecular Function (9): amino acid transmembrane transporter activity (GO:0015171), basic amino acid transmembrane transporter activity (GO:0015174), L-amino acid transmembrane transporter activity (GO:0015179), arginine binding (GO:0034618), L-arginine transmembrane transporter activity (GO:0061459), L-lysine:L-arginine antiporter activity (GO:0106439), protein binding (GO:0005515), antiporter activity (GO:0015297), transmembrane transporter activity (GO:0022857)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cell surface interactions at the vascular wall	1
SLC-mediated transport of amino acids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
amino acid transport	3
L-alpha-amino acid transmembrane transport	3
transmembrane transport	2
L-amino acid transport	2
basic amino acid transmembrane transport	2
transport	2
amino acid transmembrane transport	2
amino acid transmembrane transporter activity	2
biosynthetic process	1
nitric oxide metabolic process	1
branched-chain amino acid transport	1
neutral amino acid transport	1
carboxylic acid transport	1
nitrogen compound transport	1
amino-acid betaine transport	1
cellular process	1
carboxylic acid transmembrane transport	1
L-lysine transport	1
transmembrane transporter activity	1
carboxylic acid transmembrane transporter activity	1
amino acid binding	1
carboxylic acid binding	1
cation binding	1
basic amino acid transmembrane transporter activity	1
L-amino acid transmembrane transporter activity	1
L-arginine transmembrane transport	1
L-lysine transmembrane transporter activity	1
antiporter activity	1
L-arginine transmembrane transporter activity	1
binding	1
secondary active transmembrane transporter activity	1
transporter activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1243 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC7A6	SLC3A2	P08195	999
SLC7A6	SLC3A1	Q07837	844
SLC7A6	SLC43A2	Q8N370	808
SLC7A6	SLC38A2	Q96QD8	682
SLC7A6	SLC6A14	Q9UN76	669
SLC7A6	SLC43A1	O75387	647
SLC7A6	SLC1A4	P43007	624
SLC7A6	SLC1A1	P43005	623
SLC7A6	SLC6A19	Q695T7	609
SLC7A6	SLC1A5	Q15758	605
SLC7A6	SLC38A1	Q9H2H9	605
SLC7A6	RAD1	O60671	549
SLC7A6	SLC16A10	Q8TF71	545
SLC7A6	SLC15A1	P46059	533
SLC7A6	SLC38A3	Q99624	533

IntAct

31 interactions, top by confidence:

A	B	Type	Score
POMK	LRP5	psi-mi:“MI:0914”(association)	0.640
SLC7A6	DOLK	psi-mi:“MI:0915”(physical association)	0.560
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
ESR2		psi-mi:“MI:0914”(association)	0.350
CALM2	MYO1C	psi-mi:“MI:0914”(association)	0.350
SLC7A6	DDX46	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
C5AR1	TCAF2	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
VIPR2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
SLC18A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
SCN3B	A2ML1	psi-mi:“MI:0914”(association)	0.350
VIPR1	SLC33A1	psi-mi:“MI:0914”(association)	0.350
VIPR2	EI24	psi-mi:“MI:0914”(association)	0.350
P2RY2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
RYK	DUSP14	psi-mi:“MI:0914”(association)	0.350
SLC7A5	KLRG2	psi-mi:“MI:0914”(association)	0.350
SLC7A6	FAAH	psi-mi:“MI:0914”(association)	0.350
SLC7A7	KLRG2	psi-mi:“MI:0914”(association)	0.350
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270
DOLK	SLC7A6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (90): SLC7A6 (Affinity Capture-MS), SLC7A6 (Affinity Capture-RNA), DOLK (Two-hybrid), SLC7A6 (Affinity Capture-MS), SLC7A6 (Proximity Label-MS), SLC7A6 (Proximity Label-MS), SLC7A6 (Proximity Label-MS), SLC7A6 (Proximity Label-MS), SLC7A6 (Affinity Capture-RNA), SLC7A6 (Affinity Capture-RNA), SLC7A6 (Proximity Label-MS), SLC7A6 (Proximity Label-MS), SLC7A6 (Proximity Label-MS), SLC7A6 (Affinity Capture-MS), SLC7A6 (Affinity Capture-MS)

ESM2 similar proteins: A1L3M3, A7MBD8, B3TP03, B5D5N9, D3ZMM8, O08812, O61369, P11170, P13866, P18581, P30823, P30825, P52569, P70423, P83740, Q01650, Q09143, Q1EHB4, Q22397, Q28I80, Q3ZMH1, Q49B93, Q59I64, Q5BL81, Q5PR34, Q5RAE3, Q5RAG7, Q5RKI7, Q63016, Q6DCE8, Q7SYH5, Q7T384, Q7YQK4, Q8BGK6, Q8BYF6, Q8N695, Q8TCU3, Q8WY07, Q91WN3, Q92536

Diamond homologs: A1L3M3, D3ZMM8, O34739, P63115, P63116, P82251, P82252, Q01650, Q22397, Q28I80, Q59I64, Q5RAE3, Q5RAG7, Q5RKI7, Q63016, Q7YQK4, Q8BGK6, Q8MH63, Q8TCU3, Q91WN3, Q92536, Q9GIP4, Q9N1Q4, Q9N1R6, Q9NS82, Q9QXA6, Q9QXW9, Q9R0S5, Q9UHI5, Q9UM01, Q9UPY5, Q9WTR6, Q9WVR6, Q9Z127, Q9Z1K8, Q8VIE6, A0JNI9, A8I499, B0UYF2, B3TP03

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2292 predictions. Top by Δscore:

Variant	Effect	Δscore
16:68264574:G:T	donor_gain	1.0000
16:68266592:GA:G	acceptor_gain	1.0000
16:68266592:GAGT:G	acceptor_gain	1.0000
16:68266679:G:GT	donor_gain	1.0000
16:68275250:G:GG	donor_gain	1.0000
16:68287740:TCCTA:T	acceptor_loss	1.0000
16:68287741:CCTA:C	acceptor_loss	1.0000
16:68287742:CTA:C	acceptor_loss	1.0000
16:68287743:TAGGT:T	acceptor_loss	1.0000
16:68287744:AGGT:A	acceptor_loss	1.0000
16:68287745:G:T	acceptor_loss	1.0000
16:68287870:GG:G	donor_gain	1.0000
16:68287871:GG:G	donor_gain	1.0000
16:68294800:AT:A	donor_gain	1.0000
16:68294802:G:GG	donor_gain	1.0000
16:68296359:CACAG:C	acceptor_loss	1.0000
16:68296360:ACAGT:A	acceptor_gain	1.0000
16:68296361:C:G	acceptor_gain	1.0000
16:68296361:CAGTG:C	acceptor_loss	1.0000
16:68296362:A:AG	acceptor_gain	1.0000
16:68296362:AGT:A	acceptor_gain	1.0000
16:68296363:G:C	acceptor_loss	1.0000
16:68296363:G:GC	acceptor_gain	1.0000
16:68296363:GT:G	acceptor_gain	1.0000
16:68296363:GTG:G	acceptor_gain	1.0000
16:68296363:GTGC:G	acceptor_gain	1.0000
16:68296363:GTGCA:G	acceptor_gain	1.0000
16:68296483:G:GT	donor_gain	1.0000
16:68296510:CAAGG:C	donor_loss	1.0000
16:68296511:AAGGT:A	donor_loss	1.0000

AlphaMissense

3346 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:68274976:T:A	W84R	0.999
16:68274976:T:C	W84R	0.999
16:68275030:G:T	G102W	0.999
16:68290494:T:A	W250R	0.999
16:68290494:T:C	W250R	0.999
16:68274916:T:C	F64L	0.998
16:68274918:T:A	F64L	0.998
16:68274918:T:G	F64L	0.998
16:68275052:G:A	G109E	0.998
16:68291328:C:A	A305D	0.998
16:68291623:C:G	C328W	0.998
16:68274910:G:T	G62W	0.997
16:68274917:T:G	F64C	0.997
16:68275021:G:C	A99P	0.997
16:68275028:T:C	L101P	0.997
16:68275030:G:A	G102R	0.997
16:68275030:G:C	G102R	0.997
16:68275031:G:A	G102E	0.997
16:68275111:T:A	W129R	0.997
16:68275111:T:C	W129R	0.997
16:68274911:G:A	G62E	0.996
16:68274988:G:A	G88R	0.996
16:68274988:G:C	G88R	0.996
16:68274989:G:A	G88E	0.996
16:68275007:G:A	G94D	0.996
16:68275099:T:C	F125L	0.996
16:68275101:C:A	F125L	0.996
16:68275101:C:G	F125L	0.996
16:68290479:T:C	F245L	0.996
16:68290481:C:A	F245L	0.996

dbSNP variants (sampled 300 via entrez): RS1000080359 (16:68280142 T>C), RS1000109266 (16:68289560 T>C), RS1000161981 (16:68284705 A>G), RS1000264895 (16:68263384 C>A,T), RS1000397244 (16:68288283 G>A,C), RS1000410020 (16:68277434 G>A), RS1000466628 (16:68270221 T>C), RS1000472065 (16:68302112 G>A), RS1000626203 (16:68262740 C>T), RS1000843618 (16:68280486 A>G), RS1001085522 (16:68267866 A>G), RS1001151375 (16:68267628 C>T), RS1001182381 (16:68301734 G>A), RS1001233403 (16:68301542 T>C,G), RS1001326796 (16:68274842 T>C)

Disease associations

OMIM: gene MIM:605641 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST001217_31	Metabolic traits	1.000000e-18
GCST002539_84	Schizophrenia	2.000000e-08
GCST003372_3	Glomerular filtration rate (creatinine)	1.000000e-07
GCST004292_22	Glomerular filtration rate (creatinine)	6.000000e-09
GCST006249_87	Serum metabolite levels	6.000000e-11
GCST006803_42	Schizophrenia	4.000000e-08
GCST007201_206	Schizophrenia	3.000000e-07
GCST007201_403	Schizophrenia	5.000000e-07
GCST007344_80	Estimated glomerular filtration rate	3.000000e-10
GCST008058_153	Estimated glomerular filtration rate	2.000000e-14
GCST008059_147	Estimated glomerular filtration rate	1.000000e-11
GCST008158_8	Body mass index	5.000000e-07
GCST010002_113	Refractive error	2.000000e-14
GCST012020_468	Serum metabolite levels	2.000000e-11
GCST012020_469	Serum metabolite levels	1.000000e-19
GCST012020_470	Serum metabolite levels	2.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004725	metabolite measurement
EFO:0004340	body mass index

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

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases expression, affects expression	4
Valproic Acid	decreases expression, increases expression	3
bisphenol A	affects methylation, affects cotreatment, increases methylation, decreases expression	2
cobaltous chloride	decreases expression, increases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
benazol P	affects expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
nickel acetate	decreases reaction, 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
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, increases methylation	1
Troglitazone	decreases expression	1
Vorinostat	affects cotreatment, increases expression	1
Leflunomide	increases expression	1
Atrazine	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2GD	Abcam HeLa SLC7A6 KO	Cancer cell line	Female
CVCL_D4QJ	HCT116-SLC7A6-KO-c10	Cancer cell line	Male
CVCL_D4QK	HCT116-SLC7A6-KO-c6	Cancer cell line	Male
CVCL_TP15	HAP1 SLC7A6 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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