SLC38A5

Summary

SLC38A5 (solute carrier family 38 member 5, HGNC:18070) is a protein-coding gene on chromosome Xp11.23, encoding Sodium-coupled neutral amino acid transporter 5 (Q8WUX1). Symporter that cotransports neutral amino acids and sodium ions, coupled to an H(+) antiporter activity.

The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined.

Source: NCBI Gene 92745 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 73 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_033518

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18070
Approved symbol	SLC38A5
Name	solute carrier family 38 member 5
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	SN2, JM24, SNAT5
Ensembl gene	ENSG00000017483
Ensembl biotype	protein_coding
OMIM	300649
Entrez	92745

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 23 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000413668, ENST00000416711, ENST00000429543, ENST00000440085, ENST00000441948, ENST00000480105, ENST00000488083, ENST00000494034, ENST00000497336, ENST00000595796, ENST00000615300, ENST00000619100, ENST00000620913, ENST00000875418, ENST00000875419, ENST00000875420, ENST00000875421, ENST00000875422, ENST00000875423, ENST00000925234, ENST00000925235, ENST00000925236, ENST00000925237, ENST00000925238, ENST00000925239, ENST00000955855, ENST00000955856

RefSeq mRNA: 1 — MANE Select: NM_033518 NM_033518

CCDS: CCDS14293

Canonical transcript exons

ENST00000620913 — 17 exons

Exon	Start	End
ENSE00001561496	48469335	48469436
ENSE00002990404	48459536	48459639
ENSE00002990795	48466230	48466322
ENSE00002996570	48459732	48459876
ENSE00003070670	48461718	48461797
ENSE00003718475	48466799	48466872
ENSE00003738768	48462233	48462291
ENSE00003750659	48462007	48462144
ENSE00003753356	48470182	48470260
ENSE00003790091	48466015	48466093
ENSE00003850842	48458544	48459034
ENSE00003888751	48467872	48467925
ENSE00003888827	48460986	48461086
ENSE00003890070	48460649	48460764
ENSE00003893333	48467710	48467785
ENSE00003893643	48466962	48467077
ENSE00003895733	48462898	48462980

Expression profiles

Bgee: expression breadth ubiquitous, 183 present calls, max score 99.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.5558 / max 3538.2877, expressed in 1287 samples.

FANTOM5 promoters (26 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199154	6.3173	64
199167	2.7029	679
199155	2.3027	47
199165	2.2050	710
199166	1.3668	460
199164	1.3017	508
199156	1.1014	79
199175	0.6307	158
199173	0.6211	103
199153	0.4781	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	99.28	gold quality
bone marrow cell	CL:0002092	94.43	gold quality
stromal cell of endometrium	CL:0002255	93.94	gold quality
upper lobe of left lung	UBERON:0008952	92.39	gold quality
pancreas	UBERON:0001264	92.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.58	gold quality
mucosa of transverse colon	UBERON:0004991	90.89	gold quality
upper lobe of lung	UBERON:0008948	90.58	gold quality
left lobe of thyroid gland	UBERON:0001120	90.21	gold quality
ganglionic eminence	UBERON:0004023	90.21	gold quality
right lobe of thyroid gland	UBERON:0001119	89.97	gold quality
spinal cord	UBERON:0002240	89.92	gold quality
right frontal lobe	UBERON:0002810	89.17	gold quality
thyroid gland	UBERON:0002046	89.08	gold quality
hypothalamus	UBERON:0001898	89.06	gold quality
amygdala	UBERON:0001876	89.02	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.50	gold quality
prefrontal cortex	UBERON:0000451	88.48	gold quality
skin of abdomen	UBERON:0001416	88.28	gold quality
putamen	UBERON:0001874	88.26	gold quality
right lung	UBERON:0002167	87.87	gold quality
anterior cingulate cortex	UBERON:0009835	87.34	gold quality
cortical plate	UBERON:0005343	87.33	gold quality
lower esophagus mucosa	UBERON:0035834	86.85	gold quality
vermiform appendix	UBERON:0001154	86.78	gold quality
rectum	UBERON:0001052	86.69	gold quality
substantia nigra	UBERON:0002038	86.66	gold quality
spleen	UBERON:0002106	86.64	gold quality
cerebellar hemisphere	UBERON:0002245	86.60	gold quality
cerebellar cortex	UBERON:0002129	86.56	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-7407	yes	166.93
E-CURD-112	yes	45.82
E-GEOD-81547	yes	17.25
E-MTAB-9388	yes	8.42
E-HCAD-10	no	3.16
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting SLC38A5, 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-5193	100.00	67.26	1744
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-92A-1-5P	98.28	64.51	631
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-6881-3P	98.04	68.24	1777
HSA-MIR-193B-5P	97.91	65.88	837
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-1306-5P	97.11	64.04	755
HSA-MIR-6895-5P	97.05	64.96	522
HSA-MIR-1296-5P	93.94	67.71	305

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 8)

• A 50kb deletion at Xp11.23 including the two genes, SLC38A5 and FTSJ1 was found in 3 brothers with moderate to severe mental retardation. (PMID:17333282)
• Confirmed by mRNA and protein expression, the amino acid transporters SLC7A7 and SLC38A5 showed marked differences between controls and intrauterine growth restriction/pre-eclampsia and were regulated by both diseases. In contrast, ABCA1 may play an exclusive role in the development of pre-eclempsia. (PMID:29499643)
• Expression and function of SLC38A5, an amino acid-coupled Na+/H+ exchanger, in triple-negative breast cancer and its relevance to macropinocytosis. (PMID:34704597)
• Amino acid transporter SLC38A5 regulates developmental and pathological retinal angiogenesis. (PMID:36454214)
• The SLC38A5/SNAT5 amino acid transporter: from pathophysiology to pro-cancer roles in the tumor microenvironment. (PMID:37458433)
• SLC38A5 aggravates DC-mediated psoriasiform skin inflammation via potentiating lysosomal acidification. (PMID:37531255)
• Amino acid transporter SLC38A5 is a tumor promoter and a novel therapeutic target for pancreatic cancer. (PMID:37803043)
• SLC38A5 Modulates Ferroptosis to Overcome Gemcitabine Resistance in Pancreatic Cancer. (PMID:37887353)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc38a5a	ENSDARG00000009901
mus_musculus	Slc38a5	ENSMUSG00000031170
rattus_norvegicus	Slc38a5	ENSRNOG00000027767
drosophila_melanogaster	CG16700	FBGN0030816
drosophila_melanogaster	CG4991	FBGN0030817
drosophila_melanogaster	CG13384	FBGN0032036
drosophila_melanogaster	polyph	FBGN0033572
drosophila_melanogaster	VGAT	FBGN0033911
drosophila_melanogaster	acs	FBGN0035300
drosophila_melanogaster	CG7888	FBGN0036116
drosophila_melanogaster	CG32079	FBGN0052079
drosophila_melanogaster	CG32081	FBGN0052081
drosophila_melanogaster	mah	FBGN0285912
caenorhabditis_elegans		WBGENE00006783
caenorhabditis_elegans	slc-36.4	WBGENE00010421
caenorhabditis_elegans	Y18D10A.23	WBGENE00012487
caenorhabditis_elegans		WBGENE00012629
caenorhabditis_elegans		WBGENE00012804
caenorhabditis_elegans		WBGENE00019837
caenorhabditis_elegans		WBGENE00020837

Paralogs (15): SLC32A1 (ENSG00000101438), SLC38A7 (ENSG00000103042), SLC38A1 (ENSG00000111371), SLC36A1 (ENSG00000123643), SLC38A2 (ENSG00000134294), SLC38A4 (ENSG00000139209), SLC38A6 (ENSG00000139974), SLC38A10 (ENSG00000157637), SLC38A8 (ENSG00000166558), SLC38A11 (ENSG00000169507), SLC38A9 (ENSG00000177058), SLC36A4 (ENSG00000180773), SLC36A3 (ENSG00000186334), SLC36A2 (ENSG00000186335), SLC38A3 (ENSG00000188338)

Protein

Protein identifiers

Sodium-coupled neutral amino acid transporter 5 — Q8WUX1 (reviewed: Q8WUX1)

Alternative names: Solute carrier family 38 member 5, System N transporter 2

All UniProt accessions (7): Q8WUX1, A0A087WZF9, C9JHH7, C9JJU1, C9JMY2, C9JNK4, C9JWG4

UniProt curated annotations — full annotation on UniProt →

Function. Symporter that cotransports neutral amino acids and sodium ions, coupled to an H(+) antiporter activity. Releases L-glutamine and glycine from astroglial cells and may participate in the glutamate/GABA-L-glutamine cycle and the NMDA receptors activation. In addition, contributes significantly to L-glutamine uptake in retina, namely in ganglion and Mueller cells therefore, participates in the retinal glutamate-glutamine cycle. The transport activity is pH sensitive and Li(+) tolerant. Moreover functions in both direction and is associated with large uncoupled fluxes of protons. The transport is electroneutral coupled to the cotransport of 1 Na(+) and the antiport of 1 H(+). May have a particular importance for modulation of net hepatic glutamine flux.

Subcellular location. Cell membrane.

Tissue specificity. Predominantly expressed in stomach, brain, liver, lung and intestinal tract.

Activity regulation. Not inhibited by lithium. Partial allosteric regulation on ions sodium binding.

Similarity. Belongs to the amino acid/polyamine transporter 2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WUX1-1	1	yes
Q8WUX1-2	2

RefSeq proteins (1): NP_277053* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013057	AA_transpt_TM	Domain

Pfam: PF01490

Catalyzed reactions (Rhea), 7 shown:

• L-glutamine(out) + Na(+)(out) + H(+)(in) = L-glutamine(in) + Na(+)(in) + H(+)(out) (RHEA:71127)
• L-asparagine(out) + Na(+)(out) + H(+)(in) = L-asparagine(in) + Na(+)(in) + H(+)(out) (RHEA:71131)
• L-histidine(out) + Na(+)(out) + H(+)(in) = L-histidine(in) + Na(+)(in) + H(+)(out) (RHEA:71135)
• L-serine(out) + Na(+)(out) + H(+)(in) = L-serine(in) + Na(+)(in) + H(+)(out) (RHEA:71159)
• L-alanine(out) + Na(+)(out) + H(+)(in) = L-alanine(in) + Na(+)(in) + H(+)(out) (RHEA:71163)
• glycine(out) + Na(+)(out) + H(+)(in) = glycine(in) + Na(+)(in) + H(+)(out) (RHEA:71167)
• L-cysteine(out) + Na(+)(out) + H(+)(in) = L-cysteine(in) + Na(+)(in) + H(+)(out) (RHEA:71171)

UniProt features (32 total): topological domain 12, transmembrane region 11, sequence conflict 2, chain 1, site 1, modified residue 1, glycosylation site 1, disulfide bond 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUX1-F1	80.09	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 464 (involved in ph-sensing to the transport activity regulation)

Post-translational modifications (1): 1

Disulfide bonds (1): 221–247

Glycosylation sites (1): 226

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-352230	Amino acid transport across the plasma membrane
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 169 (showing top): GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GGGTGGRR_PAX4_03, STAT3_01, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_ORGANIC_CATION_TRANSPORT, IK3_01, GOBP_IMPORT_INTO_CELL, GOBP_NEUTRAL_AMINO_ACID_TRANSPORT

GO Biological Process (16): amino acid transport (GO:0006865), L-glutamine transport (GO:0006868), neutral amino acid transport (GO:0015804), glycine transport (GO:0015816), L-serine transport (GO:0015825), serine transport (GO:0032329), amino acid export across plasma membrane (GO:0032973), L-histidine transmembrane transport (GO:0089709), amino acid import across plasma membrane (GO:0089718), transport across blood-brain barrier (GO:0150104), asparagine transmembrane transport (GO:1903713), L-glutamine import across plasma membrane (GO:1903803), L-serine import across plasma membrane (GO:1903812), L-alanine transmembrane transport (GO:1904557), asparagine transport (GO:0006867), sodium ion transmembrane transport (GO:0035725)

GO Molecular Function (9): L-histidine transmembrane transporter activity (GO:0005290), amino acid transmembrane transporter activity (GO:0015171), L-asparagine transmembrane transporter activity (GO:0015182), L-glutamine transmembrane transporter activity (GO:0015186), glycine transmembrane transporter activity (GO:0015187), L-serine transmembrane transporter activity (GO:0015194), alanine transmembrane transporter activity (GO:0022858), L-glutamine, sodium:proton antiporter activity (GO:0140830), neutral amino acid, sodium:proton antiporter activity (GO:0140893)

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

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transport of amino acids	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
neutral amino acid transport	4
nitrogen compound transport	4
amino acid transmembrane transport	4
L-alpha-amino acid transmembrane transport	4
L-amino acid transmembrane transporter activity	4
neutral L-amino acid transmembrane transporter activity	4
carboxylic acid transport	3
L-amino acid transport	2
L-glutamine transport	2
L-serine transport	2
carboxylic acid transmembrane transporter activity	2
sodium:proton antiporter activity	2
transport	1
amino acid transport	1
serine transport	1
export across plasma membrane	1
aromatic amino acid transport	1
azole transmembrane transport	1
import across plasma membrane	1
vascular transport	1
carboxylic acid transmembrane transport	1
amino acid import across plasma membrane	1
serine import across plasma membrane	1
L-alanine transport	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
aromatic amino acid transmembrane transporter activity	1
basic amino acid transmembrane transporter activity	1
L-histidine transmembrane transport	1
azole transmembrane transporter activity	1
transmembrane transporter activity	1
asparagine transport	1
glycine transport	1
alanine transport	1
L-glutamine transmembrane transporter activity	1
amino acid:monoatomic cation antiporter activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1180 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC38A5	FTSJ1	Q9UET6	860
SLC38A5	PCTP	Q9UKL6	837
SLC38A5	SCN11A	Q9UI33	766
SLC38A5	SLC1A5	Q15758	676
SLC38A5	SSX1	Q16384	638
SLC38A5	SLC1A3	P43003	626
SLC38A5	SLC7A5	Q01650	585
SLC38A5	SLC1A4	P43007	535
SLC38A5	SLC7A6	Q92536	532
SLC38A5	SLC7A8	Q9UHI5	496
SLC38A5	SLC6A14	Q9UN76	485
SLC38A5	SLC3A2	P08195	469
SLC38A5	SLC6A19	Q695T7	468
SLC38A5	SLC38A9	Q8NBW4	464
SLC38A5	STX1A	Q16623	456

IntAct

27 interactions, top by confidence:

A	B	Type	Score
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
VAMP5	NBAS	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.530
IL27RA	AP1G2	psi-mi:“MI:0914”(association)	0.530
sseJ	AGPS	psi-mi:“MI:0914”(association)	0.460
Tnpo1	CCHCR1	psi-mi:“MI:0914”(association)	0.350
Kcnk1	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
RAB5C	GCA	psi-mi:“MI:0914”(association)	0.350
RNASEK-C17orf49	BPTF	psi-mi:“MI:0914”(association)	0.350
Smn1	CLNS1A	psi-mi:“MI:0914”(association)	0.350
YIPF5	SSR3	psi-mi:“MI:0914”(association)	0.350
TMEM63B	CAV1	psi-mi:“MI:0914”(association)	0.350
CLEC2D	ESYT2	psi-mi:“MI:0914”(association)	0.350
KLRB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
ATP2A3	UBXN8	psi-mi:“MI:0914”(association)	0.350
LGALS9	LGALS8	psi-mi:“MI:0914”(association)	0.350
SPPL2B	HAS3	psi-mi:“MI:0914”(association)	0.350
TNFRSF10C	PLPP3	psi-mi:“MI:0914”(association)	0.350
CACNG7	PLD2	psi-mi:“MI:0914”(association)	0.350
HLA-B	RAB29	psi-mi:“MI:0914”(association)	0.350
ENTPD2	CLGN	psi-mi:“MI:0914”(association)	0.350
LGALS12	ITGA5	psi-mi:“MI:0914”(association)	0.350
SLC38A5	NRP1	psi-mi:“MI:0914”(association)	0.350
SLC38A5	tktA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (62): SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Reconstituted Complex), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS)

ESM2 similar proteins: A1YG32, A2VCW5, A2VE31, D3Z813, F4KBM7, G3UVW3, O80668, P38176, P39981, P40074, P40501, P47082, Q08AI6, Q0WQJ3, Q17598, Q19425, Q28HE5, Q28I47, Q3U1J0, Q3USY0, Q503G8, Q54S12, Q5E9S9, Q5EA97, Q5F468, Q5R443, Q5RE87, Q5SPB1, Q5XH90, Q610N4, Q6DEL1, Q6DFE7, Q6WWW3, Q8CFE6, Q8HXI3, Q8IZM9, Q8K2P7, Q8R1S9, Q8WUX1, Q969I6

Diamond homologs: A1YG32, A2VCW5, A2VE31, G3UVW3, Q28HE5, Q3U1J0, Q503G8, Q5E9S9, Q5F468, Q5R443, Q5RE87, Q5SPB1, Q5XH90, Q6WWW3, Q8CFE6, Q8IZM9, Q8K2P7, Q8R1S9, Q8WUX1, Q969I6, Q96QD8, Q99624, Q9DCP2, Q9EQ25, Q9H2H9, Q9JHE5, Q9JHZ9, Q9JM15, F4J1Q9, A6NNN8, Q5HZH7, Q9LXF8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2588 predictions. Top by Δscore:

Variant	Effect	Δscore
X:48459531:CTTA:C	donor_loss	1.0000
X:48459532:TTA:T	donor_loss	1.0000
X:48459533:TACCT:T	donor_loss	1.0000
X:48459534:A:AC	donor_gain	1.0000
X:48459534:ACC:A	donor_loss	1.0000
X:48459535:C:CC	donor_gain	1.0000
X:48459535:C:CG	donor_loss	1.0000
X:48459535:CCTGG:C	donor_gain	1.0000
X:48459635:GGACC:G	acceptor_gain	1.0000
X:48459636:GACC:G	acceptor_gain	1.0000
X:48459637:ACC:A	acceptor_gain	1.0000
X:48459637:ACCC:A	acceptor_loss	1.0000
X:48459638:CC:C	acceptor_gain	1.0000
X:48459638:CCC:C	acceptor_gain	1.0000
X:48459639:CC:C	acceptor_gain	1.0000
X:48459640:C:CC	acceptor_gain	1.0000
X:48459640:C:T	acceptor_gain	1.0000
X:48459640:CTGGA:C	acceptor_loss	1.0000
X:48459641:T:A	acceptor_loss	1.0000
X:48459648:C:CT	acceptor_gain	1.0000
X:48459649:A:T	acceptor_gain	1.0000
X:48459726:A:AC	donor_gain	1.0000
X:48459727:C:CC	donor_gain	1.0000
X:48459728:TGA:T	donor_loss	1.0000
X:48459729:GACC:G	donor_loss	1.0000
X:48459730:A:AC	donor_gain	1.0000
X:48459730:ACC:A	donor_loss	1.0000
X:48459731:C:CA	donor_loss	1.0000
X:48459731:C:CC	donor_gain	1.0000
X:48459872:CGGAT:C	acceptor_gain	1.0000

AlphaMissense

3079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:48460665:G:C	P351R	0.998
X:48460665:G:T	P351Q	0.998
X:48461768:A:C	F267L	0.998
X:48461768:A:T	F267L	0.998
X:48461770:A:G	F267L	0.998
X:48462272:A:C	S198R	0.998
X:48462272:A:T	S198R	0.998
X:48462274:T:G	S198R	0.998
X:48466083:A:C	S141R	0.998
X:48466083:A:T	S141R	0.998
X:48466085:T:G	S141R	0.998
X:48467020:C:G	G63R	0.998
X:48467037:A:G	L57P	0.998
X:48467039:G:C	N56K	0.998
X:48467039:G:T	N56K	0.998
X:48462938:A:C	S178R	0.997
X:48462938:A:T	S178R	0.997
X:48462940:T:G	S178R	0.997
X:48467015:G:C	S64R	0.997
X:48467015:G:T	S64R	0.997
X:48467017:T:G	S64R	0.997
X:48459620:G:C	S411R	0.996
X:48459620:G:T	S411R	0.996
X:48459622:T:G	S411R	0.996
X:48459639:C:T	G405E	0.996
X:48459732:C:A	G405W	0.996
X:48460662:A:T	V352D	0.996
X:48460990:G:C	F316L	0.996
X:48460990:G:T	F316L	0.996
X:48460992:A:G	F316L	0.996

dbSNP variants (sampled 300 via entrez): RS1000255994 (X:48471442 A>G,T), RS1000302848 (X:48462359 C>A,T), RS1001201755 (X:48464863 G>A), RS1003220432 (X:48468578 C>T), RS1003741215 (X:48468247 G>A), RS1004342434 (X:48470079 G>A), RS1006453042 (X:48465876 C>A), RS1007004245 (X:48458981 A>G), RS1007346515 (X:48458649 C>A,T), RS1007402952 (X:48467581 G>A,T), RS1007958600 (X:48460657 G>T), RS1008420546 (X:48461045 A>G), RS1008882428 (X:48469123 C>T), RS1009015283 (X:48463175 G>C), RS1009938617 (X:48471490 G>A)

Disease associations

OMIM: gene MIM:300649 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002390_288	Mean corpuscular hemoglobin	2.000000e-21
GCST90002392_234	Mean corpuscular volume	9.000000e-17

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin

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 — System N-like transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	5
bisphenol A	decreases expression, increases expression, affects cotreatment	3
entinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation, increases mutagenesis	2
Dexamethasone	decreases expression, affects cotreatment	2
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	increases methylation, decreases expression	1
sodium arsenite	decreases expression	1
nickel sulfate	decreases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
K 7174	decreases 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
Acetaminophen	decreases expression	1
Acrolein	increases oxidation, increases abundance, affects cotreatment	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Cisplatin	decreases response to substance, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Ozone	increases abundance, affects cotreatment, increases oxidation	1
Quercetin	increases expression	1
Smoke	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	decreases expression, affects cotreatment	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2G3	Abcam HeLa SLC38A5 KO	Cancer cell line	Female
CVCL_D4N4	HCT116-SLC38A5-KO-c2	Cancer cell line	Male
CVCL_D4N5	HCT116-SLC38A5-KO-c8	Cancer cell line	Male
CVCL_TN44	HAP1 SLC38A5 (-) 1	Cancer cell line	Male
CVCL_TN45	HAP1 SLC38A5 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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