SLC4A7 (solute carrier family 4 member 7)

2013-04-01  

Identity

HGNC
SLC4A7
LOCATION
3p24.1
LOCUSID
9497
ALIAS
NBC2,NBC3,NBCN1,SBC2,SLC4A6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9497
MIM: 603353
HGNC: 11033
Ensembl: ENSG00000033867

Variants:

dbSNP: 9497
ClinVar: 9497
TCGA: ENSG00000033867
COSMIC: SLC4A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000033867ENST00000295736Q9Y6M7
ENSG00000033867ENST00000419036H7C3C4
ENSG00000033867ENST00000425128A0A0A0MST8
ENSG00000033867ENST00000428179C9JRP1
ENSG00000033867ENST00000428386Q9Y6M7
ENSG00000033867ENST00000437179Q9Y6M7
ENSG00000033867ENST00000437266Q9Y6M7
ENSG00000033867ENST00000438530Q9Y6M7
ENSG00000033867ENST00000440156Q9Y6M7
ENSG00000033867ENST00000445684E9PFN4
ENSG00000033867ENST00000446700Q9Y6M7
ENSG00000033867ENST00000454389Q9Y6M7
ENSG00000033867ENST00000455077Q9Y6M7
ENSG00000033867ENST00000457377Q9Y6M7

Expression (GTEx)

0
5
10
15
20
25
30
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Bicarbonate transportersREACTOMER-HSA-425381

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
193300272009Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.245
252491832015Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.63
229072022013Contribution of Na+,HCO3(-)-cotransport to cellular pH control in human breast cancer: a role for the breast cancer susceptibility locus NBCn1 (SLC4A7).35
205420292010NBCn1 and NHE1 expression and activity in DeltaNErbB2 receptor-expressing MCF-7 breast cancer cells: contributions to pHi regulation and chemotherapy resistance.34
221206732012The Na+/H+ exchanger NHE1, but not the Na+, HCO3(-) cotransporter NBCn1, regulates motility of MCF7 breast cancer cells expressing constitutively active ErbB2.34
124037792002The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3.30
147367102004Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA.25
201451382010Common genetic variants associated with breast cancer and mammographic density measures that predict disease.21
231178552012The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case-control study and a meta-analysis.20
200958542010Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.16

Citation

Dessen P

SLC4A7 (solute carrier family 4 member 7)

Atlas Genet Cytogenet Oncol Haematol. 2013-04-01

Online version: http://atlasgeneticsoncology.org/gene/53241/slc4a7-(solute-carrier-family-4-member-7)