SLC12A9 (solute carrier family 12 member 9)

2014-11-01  

Identity

HGNC
SLC12A9
LOCATION
7q22.1
LOCUSID
56996
ALIAS
CCC6,CIP1,WO3.3,hCCC6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56996
MIM: 616861
HGNC: 17435
Ensembl: ENSG00000146828

Variants:

dbSNP: 56996
ClinVar: 56996
TCGA: ENSG00000146828
COSMIC: SLC12A9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146828ENST00000354161Q9BXP2
ENSG00000146828ENST00000415287Q9BXP2
ENSG00000146828ENST00000416675C9JBD8
ENSG00000146828ENST00000418037C9J0I5
ENSG00000146828ENST00000434158C9JMQ7
ENSG00000146828ENST00000448342F8WEK3
ENSG00000146828ENST00000540482Q9BXP2

Expression (GTEx)

0
50
100
150
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

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
383340702024Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.0
383340702024Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.0
369252042023Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma.4
381572602023Clinical value of SLC12A9 for diagnosis and prognosis in colorectal cancer.0
369252042023Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma.4
381572602023Clinical value of SLC12A9 for diagnosis and prognosis in colorectal cancer.0
233254102013Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.79
233254102013Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.79
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.0
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.0

Citation

Dessen P

SLC12A9 (solute carrier family 12 member 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73276/slc12a9-(solute-carrier-family-12-member-9)