SLC7A9 (solute carrier family 7 member 9)

2016-10-01  

Identity

HGNC
LOCATION
19q13.11
LOCUSID
ALIAS
BAT1,CSNU3
FUSION GENES

Other Information

Locus ID:

NCBI: 11136
MIM: 604144
HGNC: 11067
Ensembl: ENSG00000021488

Variants:

dbSNP: 11136
ClinVar: 11136
TCGA: ENSG00000021488
COSMIC: SLC7A9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000021488ENST00000023064P82251
ENSG00000021488ENST00000587772P82251
ENSG00000021488ENST00000590341P82251
ENSG00000021488ENST00000590465K7EKD0
ENSG00000021488ENST00000592232K7EKD0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
HemostasisREACTOMER-HSA-109582
Cell surface interactions at the vascular wallREACTOMER-HSA-202733
Basigin interactionsREACTOMER-HSA-210991
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Amino acid transport across the plasma membraneREACTOMER-HSA-352230

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
374398392023Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.1
375612002023Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.2
374398392023Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.1
375612002023Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.2
347731932022SLC7A9 as a Potential Biomarker for Lymph Node Metastasis of Esophageal Squamous Cell Carcinoma.5
347731932022SLC7A9 as a Potential Biomarker for Lymph Node Metastasis of Esophageal Squamous Cell Carcinoma.5
333491022021Clinical profile of a Polish cohort of children and young adults with cystinuria.2
333491022021Clinical profile of a Polish cohort of children and young adults with cystinuria.2
328175652020Structural basis for amino acid exchange by a human heteromeric amino acid transporter.13
328175652020Structural basis for amino acid exchange by a human heteromeric amino acid transporter.13
300698162018In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.4
301468432018Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.4
300698162018In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.4
301468432018Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.4
282706462017A Novel Mutation in SLC7A9 Gene in Cystinuria.3

Citation

Dessen P

SLC7A9 (solute carrier family 7 member 9)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56407/slc7a9-(solute-carrier-family-7-member-9)