Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	348932
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 6 member 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC6A18
Synonyms (NCBI Gene) Gene synonyms aliases	Xtrp2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p15.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(18)

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

MIM	HGNC	e!Ensembl
610300	26441	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

Interactions

View interactions

	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

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer subtype (triple negative vs luminal A-like), Postmenopausal breast cancer	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
2 Methylbutyryl CoA Dehydrogenase Deficiency	Associate	35236679
Cri du Chat Syndrome	Associate	33517598
Iminoglycinuria	Associate	19033659
Myopia	Associate	30826882
Retinal Hemorrhage	Associate	33517598

SLC6A18 (solute carrier family 6 member 18)