SLC6A18 (solute carrier family 6 member 18)

Gene

• Entrez ID: 348932
• Gene name: Solute carrier family 6 member 18
• Gene symbol: SLC6A18
• Synonyms (NCBI Gene): Xtrp2
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport fr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1366177	hsa-miR-1908	CLIP-seq
MIRT1366178	hsa-miR-296-5p	CLIP-seq
MIRT1366179	hsa-miR-3943	CLIP-seq
MIRT1366180	hsa-miR-4265	CLIP-seq
MIRT1366181	hsa-miR-4296	CLIP-seq
MIRT1366182	hsa-miR-4322	CLIP-seq
MIRT1366183	hsa-miR-4417	CLIP-seq
MIRT1366184	hsa-miR-4641	CLIP-seq
MIRT1366185	hsa-miR-663	CLIP-seq
MIRT1366186	hsa-miR-744	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IMP	26240152
GO:0006865	Process	Amino acid transport	TAS
GO:0015171	Function	Amino acid transmembrane transporter activity	IDA	26240152
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:1990297	Process	Renal amino acid absorption	IEA

Other IDs

• MIM: 610300
• HGNC: 26441
• e!Ensembl: ENSG00000164363

Protein

• UniProt ID: Q96N87
• Protein name: Inactive sodium-dependent neutral amino acid transporter B(0)AT3 (Sodium- and chloride-dependent transporter XTRP2) (Solute carrier family 6 member 18) (System B(0) neutral amino acid transporter AT3)
• Protein function: Does not show neutral amino acid transporter activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	18 → 593	Sodium:neurotransmitter symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in kidney, but not in intestine. {ECO:0000269|PubMed:15286787}.
• Sequence:

  MAHAPEPDPAACDLGDERPKWDNKAQYLLSCTGFAVGLGNIWRFPYLCQTYGGGAFLIPY
  VIALVFEGIPIFHVELAIGQRLRKGSVGVWTAISPYLSGVGLGCVTLSFLISLYYNTIVA
  WVLWYLLNSFQHPLPWSSCPPDLNRTGFVEECQGSSAVSYFWYRQTLNITADINDSGSIQ
  WWLLICLAASWAVVYMCVIRGIETTGKVIYFTALFPYLVLTIFLIRGLTLPGATKGLIYL
  FTPNMHILQNPRVWLDAATQIFFSLSLAFGGHIAFASYNSPRNDCQKDAVVIALVNRMTS
  LYASIAVFSVLGFKATNDYEHCLDRNILSLINDFDFPEQSISRDDYPAVLMHLNATWPKR
  VAQLPLKACLLEDFLDKSASGPGLAFVVFTETDLHMPGAPVWAMLFFGMLFTLGLSTMFG
  TVEAVITPLLDVGVLPRWVPKEALTGLVCLVCFLSATCFTLQSGNYWLEIFDNFAASPNL
  LMLAFLEVVGVVYVYGMKRFCDDIAWMTGRRPSPYWRLTWRVVSPLLLTIFVAYIILLFW
  KPLRYKAWNPKYELFPSRQEKLYPGWARAACVLLSLLPVLWVPVAALAQLLTRRRRTWRD
  RDARPDTDMRPDTDTRPDTDMRPDTDMR

• Sequence length: 628

Pathways

Reactome:

Amino acid transport across the plasma membrane
Na+/Cl- dependent neurotransmitter transporters
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMINOGLYCINURIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL A BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	18554081		★☆☆☆☆ Found in Text Mining only
HYPERGLYCINURIA (disorder)	Hyperglycinuria	BEFREE	19033659		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	15121838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	16340170, 18554081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iminoglycinuria	Iminoglycinuria	BEFREE	19033659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iminoglycinuria	Iminoglycinuria	ORPHANET_DG	19033659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iminoglycinuria	Iminoglycinuria	Pubtator	19033659	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iminoglycinuria	Iminoglycinuria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21420947		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	30826882	Associate	★☆☆☆☆ Found in Text Mining only