SLC7A9 (solute carrier family 7 member 9)

2016-10-01  

Identity

HGNC
SLC7A9
LOCATION
19q13.11
LOCUSID
11136
ALIAS
BAT1,CSNU3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203831462010New loci associated with kidney function and chronic kidney disease.337
203831452010Genetic loci influencing kidney function and chronic kidney disease.107
122392442002Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.38
156350772005New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.29
156350772005New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.29
121676062002rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.18
122342832002Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.13
212550072012Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.11
123719552002SLC7A9 mutations in all three cystinuria subtypes.10
197826242010Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.10

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