SLC7A3
geneOn this page
Also known as CAT-3ATRC3FLJ14541
Summary
SLC7A3 (solute carrier family 7 member 3, HGNC:11061) is a protein-coding gene on chromosome Xq13.1, encoding Cationic amino acid transporter 3 (Q8WY07). Uniporter that mediates the uptake of cationic L-amino acids such as L-arginine, L-lysine and L-ornithine.
This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.
Source: NCBI Gene 84889 — RefSeq curated summary.
At a glance
- Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 65 total
- Druggable target: yes
- MANE Select transcript:
NM_032803
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11061 |
| Approved symbol | SLC7A3 |
| Name | solute carrier family 7 member 3 |
| Location | Xq13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CAT-3, ATRC3, FLJ14541 |
| Ensembl gene | ENSG00000165349 |
| Ensembl biotype | protein_coding |
| OMIM | 300443 |
| Entrez | 84889 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 15 protein_coding
ENST00000298085, ENST00000374299, ENST00000921007, ENST00000921008, ENST00000921009, ENST00000921010, ENST00000921011, ENST00000921012, ENST00000921013, ENST00000921014, ENST00000921015, ENST00000921016, ENST00000921017, ENST00000921018, ENST00000921019
RefSeq mRNA: 2 — MANE Select: NM_032803
NM_001048164, NM_032803
CCDS: CCDS14404
Canonical transcript exons
ENST00000374299 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001092379 | 70927484 | 70927623 |
| ENSE00001092380 | 70928145 | 70928257 |
| ENSE00001092383 | 70926527 | 70926693 |
| ENSE00001092384 | 70926070 | 70926178 |
| ENSE00001092385 | 70926875 | 70927041 |
| ENSE00001092386 | 70927282 | 70927384 |
| ENSE00001092387 | 70927798 | 70928020 |
| ENSE00001092388 | 70928844 | 70929002 |
| ENSE00001092389 | 70928456 | 70928633 |
| ENSE00001463110 | 70929628 | 70930022 |
| ENSE00001877213 | 70930977 | 70931096 |
| ENSE00001956189 | 70925579 | 70925943 |
Expression profiles
Bgee: expression breadth ubiquitous, 111 present calls, max score 92.69.
FANTOM5 (CAGE): breadth broad, TPM avg 6.6467 / max 389.2480, expressed in 270 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199535 | 6.6467 | 270 |
Top tissues by expression
228 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cauda epididymis | UBERON:0004360 | 92.69 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.82 | gold quality |
| tibialis anterior | UBERON:0001385 | 82.19 | silver quality |
| ventricular zone | UBERON:0003053 | 81.38 | gold quality |
| thymus | UBERON:0002370 | 79.44 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.61 | gold quality |
| kidney epithelium | UBERON:0004819 | 76.45 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.84 | gold quality |
| pancreatic ductal cell | CL:0002079 | 74.25 | silver quality |
| mucosa of stomach | UBERON:0001199 | 72.54 | gold quality |
| ileal mucosa | UBERON:0000331 | 71.85 | gold quality |
| upper arm skin | UBERON:0004263 | 70.60 | gold quality |
| body of uterus | UBERON:0009853 | 69.75 | gold quality |
| cerebellar vermis | UBERON:0004720 | 68.54 | gold quality |
| deltoid | UBERON:0001476 | 67.75 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 67.59 | gold quality |
| hypothalamus | UBERON:0001898 | 64.38 | gold quality |
| sperm | CL:0000019 | 64.16 | silver quality |
| smooth muscle tissue | UBERON:0001135 | 63.54 | gold quality |
| corpus epididymis | UBERON:0004359 | 63.30 | silver quality |
| parotid gland | UBERON:0001831 | 63.00 | gold quality |
| caput epididymis | UBERON:0004358 | 62.99 | silver quality |
| myometrium | UBERON:0001296 | 62.41 | gold quality |
| decidua | UBERON:0002450 | 62.18 | gold quality |
| quadriceps femoris | UBERON:0001377 | 61.72 | gold quality |
| seminal vesicle | UBERON:0000998 | 60.86 | silver quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 60.42 | gold quality |
| vena cava | UBERON:0004087 | 60.32 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 59.97 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 59.65 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 1259.67 |
| E-ANND-3 | yes | 2.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting SLC7A3, 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-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-3144-5P | 97.64 | 65.45 | 646 |
| HSA-MIR-125B-1-3P | 91.57 | 67.67 | 56 |
Literature-anchored findings (GeneRIF, showing 5)
- is concluded that hCAT-3 is a passive transport system that conducts monovalent cations including L-Arg. (PMID:15737334)
- It is concluded that similar to hCAT-1, hCAT-3 activity is decreased by PKC via reduction of transporter molecules in the plasma membrane. (PMID:16332251)
- CAT1, CAT2, and CAT3 localized in adult brains but with uneven distribution. (PMID:22870827)
- knockdown impaired AMPK-PPAR-alpha signaling and resulted in lipid accumulation under glucose starvation in liver cells (PMID:25130427)
- rare hypomorphic variants of SLC7A3 exist in male individuals, SLC7A3 variants possibly contribute to the etiology of autism spectrum disorders in male subjects in association with other genetic factors (PMID:26215737)
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc7a3a | ENSDARG00000020645 |
| danio_rerio | slc7a3b | ENSDARG00000061566 |
| mus_musculus | Slc7a3 | ENSMUSG00000031297 |
| rattus_norvegicus | Slc7a3 | ENSRNOG00000004133 |
| 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), SLC7A6 (ENSG00000103064), SLC7A5 (ENSG00000103257), SLC7A10 (ENSG00000130876), SLC7A1 (ENSG00000139514), SLC7A11 (ENSG00000151012), SLC7A7 (ENSG00000155465), SLC7A13 (ENSG00000164893)
Protein
Protein identifiers
Cationic amino acid transporter 3 — Q8WY07 (reviewed: Q8WY07)
Alternative names: Cationic amino acid transporter y+, Solute carrier family 7 member 3
All UniProt accessions (1): Q8WY07
UniProt curated annotations — full annotation on UniProt →
Function. Uniporter that mediates the uptake of cationic L-amino acids such as L-arginine, L-lysine and L-ornithine. The transport is sodium ions- and pH-independent, moderately trans-stimulated and is mediated by passive diffusion.
Subcellular location. Cell membrane.
Tissue specificity. Highly expressed in thymus, uterus and testis. Detected at lower levels in brain, mammary gland, prostate, salivary gland and fetal spleen. In brain, highest expression in thalamus, hippocampus and amygdala.
Post-translational modifications. N-glycosylated.
Similarity. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
RefSeq proteins (2): NP_001041629, NP_116192* (*=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), 3 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)
UniProt features (37 total): topological domain 15, transmembrane region 14, modified residue 2, sequence variant 2, sequence conflict 2, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WY07-F1 | 83.55 | 0.48 |
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 (2): 606, 618
Glycosylation sites (1): 232
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-352230 | Amino acid transport across the plasma membrane |
MSigDB gene sets: 96 (showing top):
GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, AATGGAG_MIR136, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_AMINO_ACID_TRANSPORT, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_BASIC_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_ORGANIC_CATION_TRANSPORT, DOUGLAS_BMI1_TARGETS_UP, GOBP_IMPORT_INTO_CELL, LEE_AGING_CEREBELLUM_UP, ATF_01, GOBP_TRANSMEMBRANE_TRANSPORT, DR3_Q4
GO Biological Process (10): amino acid transport (GO:0006865), L-arginine import across plasma membrane (GO:0097638), L-lysine import across plasma membrane (GO:0097639), L-ornithine import across plasma membrane (GO:0097640), transport across blood-brain barrier (GO:0150104), ornithine transport (GO:0015822), transmembrane transport (GO:0055085), amino acid import across plasma membrane (GO:0089718), L-lysine transmembrane transport (GO:1903401), L-arginine transmembrane transport (GO:1903826)
GO Molecular Function (7): L-ornithine transmembrane transporter activity (GO:0000064), amino acid transmembrane transporter activity (GO:0015171), L-lysine transmembrane transporter activity (GO:0015189), L-arginine transmembrane transporter activity (GO:0061459), protein binding (GO:0005515), basic amino acid transmembrane transporter activity (GO:0015174), transmembrane transporter activity (GO:0022857)
GO Cellular Component (2): plasma membrane (GO:0005886), 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 |
|---|---|
| amino acid import across plasma membrane | 3 |
| L-amino acid transmembrane transporter activity | 3 |
| transport | 2 |
| L-arginine transmembrane transport | 2 |
| L-lysine transmembrane transport | 2 |
| L-ornithine transmembrane transport | 2 |
| amino acid transmembrane transport | 2 |
| L-alpha-amino acid transmembrane transport | 2 |
| basic amino acid transmembrane transport | 2 |
| basic amino acid transmembrane transporter activity | 2 |
| vascular transport | 1 |
| amino acid transport | 1 |
| carboxylic acid transport | 1 |
| nitrogen compound transport | 1 |
| cellular process | 1 |
| import across plasma membrane | 1 |
| L-lysine transport | 1 |
| transmembrane transporter activity | 1 |
| binding | 1 |
| amino acid transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1072 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC7A3 | COQ7 | Q99807 | 697 |
| SLC7A3 | SLC7A13 | Q8TCU3 | 531 |
| SLC7A3 | SLC16A2 | P36021 | 474 |
| SLC7A3 | SLC7A6 | Q92536 | 457 |
| SLC7A3 | CHIC1 | Q5VXU3 | 433 |
| SLC7A3 | SLC7A4 | O43246 | 428 |
| SLC7A3 | SLC1A4 | P43007 | 409 |
| SLC7A3 | SLC25A35 | Q3KQZ1 | 407 |
| SLC7A3 | SLC38A8 | A6NNN8 | 399 |
| SLC7A3 | CDX4 | O14627 | 396 |
| SLC7A3 | SVOPL | Q8N434 | 386 |
| SLC7A3 | SLC16A10 | Q8TF71 | 380 |
| SLC7A3 | SLC3A2 | P08195 | 378 |
| SLC7A3 | SLC3A1 | Q07837 | 375 |
| SLC7A3 | SLC43A2 | Q8N370 | 355 |
IntAct
71 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RXYLT1 | FKTN | psi-mi:“MI:0914”(association) | 0.710 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC7A3 | TMEM237 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC10A1 | SLC7A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC2A5 | RBFOX3 | psi-mi:“MI:0914”(association) | 0.530 |
| EPHA1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| B4GAT1 | ADCY6 | psi-mi:“MI:0914”(association) | 0.530 |
| RTN1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TXNDC15 | ORC4 | psi-mi:“MI:0914”(association) | 0.350 |
| RXYLT1 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| WDFY2 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| SLC18A1 | LIMK2 | psi-mi:“MI:0914”(association) | 0.350 |
| SDC2 | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC17A2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| LPAR6 | DEGS1 | psi-mi:“MI:0914”(association) | 0.350 |
| B4GAT1 | ADCY6 | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC2 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| RAMP2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CMTM5 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (163): SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (Affinity Capture-MS), SLC7A3 (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.
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 11 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1647 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:70926965:T:TA | donor_gain | 1.0000 |
| X:70926988:T:TA | donor_gain | 1.0000 |
| X:70927478:TGTTA:T | donor_loss | 1.0000 |
| X:70927479:GTTAC:G | donor_loss | 1.0000 |
| X:70927480:TTAC:T | donor_loss | 1.0000 |
| X:70927481:TACCT:T | donor_loss | 1.0000 |
| X:70927482:ACC:A | donor_loss | 1.0000 |
| X:70927483:C:CG | donor_loss | 1.0000 |
| X:70927483:CCTG:C | donor_gain | 1.0000 |
| X:70927619:GGAGG:G | acceptor_gain | 1.0000 |
| X:70927620:GAGG:G | acceptor_gain | 1.0000 |
| X:70927621:AGG:A | acceptor_gain | 1.0000 |
| X:70927622:GGC:G | acceptor_loss | 1.0000 |
| X:70927623:GCTGG:G | acceptor_loss | 1.0000 |
| X:70927624:C:CA | acceptor_loss | 1.0000 |
| X:70927624:C:CC | acceptor_gain | 1.0000 |
| X:70927625:T:C | acceptor_loss | 1.0000 |
| X:70927947:C:CT | acceptor_gain | 1.0000 |
| X:70927950:C:CT | acceptor_gain | 1.0000 |
| X:70927951:A:T | acceptor_gain | 1.0000 |
| X:70928838:CCTCA:C | donor_loss | 1.0000 |
| X:70928839:CTCAC:C | donor_loss | 1.0000 |
| X:70928840:TCACC:T | donor_loss | 1.0000 |
| X:70928841:CA:C | donor_loss | 1.0000 |
| X:70928842:ACCAG:A | donor_loss | 1.0000 |
| X:70928843:C:CG | donor_loss | 1.0000 |
| X:70930971:GCTTA:G | donor_loss | 1.0000 |
| X:70930973:TTAC:T | donor_loss | 1.0000 |
| X:70930974:TAC:T | donor_loss | 1.0000 |
| X:70930975:ACCA:A | donor_loss | 1.0000 |
AlphaMissense
3961 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:70928164:G:C | F267L | 0.999 |
| X:70928164:G:T | F267L | 0.999 |
| X:70928166:A:G | F267L | 0.999 |
| X:70929665:G:C | F111L | 0.999 |
| X:70929665:G:T | F111L | 0.999 |
| X:70929667:A:G | F111L | 0.999 |
| X:70929655:A:G | W115R | 0.998 |
| X:70929655:A:T | W115R | 0.998 |
| X:70928153:G:T | A271D | 0.997 |
| X:70929648:A:G | L117P | 0.997 |
| X:70929681:C:A | G106V | 0.997 |
| X:70926146:G:C | S551R | 0.996 |
| X:70926146:G:T | S551R | 0.996 |
| X:70926148:T:G | S551R | 0.996 |
| X:70927282:C:A | R429M | 0.996 |
| X:70928162:T:A | D268V | 0.996 |
| X:70928173:A:C | F264L | 0.996 |
| X:70928173:A:T | F264L | 0.996 |
| X:70928175:A:G | F264L | 0.996 |
| X:70928992:A:C | S127R | 0.996 |
| X:70928992:A:T | S127R | 0.996 |
| X:70928994:T:G | S127R | 0.996 |
| X:70929657:C:T | G114D | 0.996 |
| X:70929682:C:G | G106R | 0.996 |
| X:70929695:G:C | S101R | 0.996 |
| X:70929695:G:T | S101R | 0.996 |
| X:70929697:T:G | S101R | 0.996 |
| X:70929756:C:T | G81E | 0.996 |
| X:70927956:G:C | C295W | 0.995 |
| X:70929681:C:T | G106D | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000501955 (X:70928382 C>T), RS1001329802 (X:70927033 G>A,T), RS1001888615 (X:70930852 G>A), RS1002384696 (X:70928784 C>G,T), RS1003344841 (X:70931038 T>G), RS1003496038 (X:70927707 C>T), RS1003780631 (X:70931101 T>G), RS1004840524 (X:70927168 T>A,G), RS1005311409 (X:70931504 T>C,G), RS1005334667 (X:70931958 C>T), RS1005404759 (X:70932585 T>A), RS1005550092 (X:70928891 G>A,T), RS1005832934 (X:70929253 G>A), RS1007488880 (X:70929723 G>A), RS1007753472 (X:70926361 A>G)
Disease associations
OMIM: gene MIM:300443 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| autism spectrum disorder | Limited | Autosomal dominant |
Mondo (1): autism spectrum disorder (MONDO:0005258)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_93 | Refractive error | 3.000000e-16 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5209633 (SINGLE PROTEIN)
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
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | decreases expression, affects cotreatment | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| bisphenol A | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| dorsomorphin | increases expression, decreases expression, affects cotreatment | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arbutin | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Diethylhexyl Phthalate | decreases expression, increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Permethrin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5209617 | Functional | Substrate uptake by the Cationic Amino Acid Transporter (CAT-3, SLC7A3) as assessed by the fluorescent FLIPR membrane potential dye in HEK-293 JumpIN-SLC7A3 cells (PubChem AID: 1745863) | Membrane potential based transport assay for SLC7A3 using HEK293 JumpIn SLC7A3 OE cells |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TP12 | HAP1 SLC7A3 (-) 1 | Cancer cell line | Male |
| CVCL_TP13 | HAP1 SLC7A3 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Associated diseases: autism spectrum disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism spectrum disorder