SLC4A5 (solute carrier family 4 member 5)

2014-01-01 Affiliation

Identity

HGNC

SLC4A5

LOCATION

2p13.1

LOCUSID

57835

ALIAS

NBC4,NBCe2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57835
MIM: 606757
HGNC: 18168
Ensembl: ENSG00000188687

Variants:

dbSNP: 57835
ClinVar: 57835
TCGA: ENSG00000188687
COSMIC: SLC4A5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188687	ENST00000346834	Q9BY07
ENSG00000188687	ENST00000358683	Q9BY07
ENSG00000188687	ENST00000377632	Q9BY07
ENSG00000188687	ENST00000377634	Q9BY07
ENSG00000188687	ENST00000394019	Q9BY07
ENSG00000188687	ENST00000423644	Q9BY07
ENSG00000188687	ENST00000425249	E7EQT3
ENSG00000188687	ENST00000432728	C9JNL6
ENSG00000188687	ENST00000436454	C9JW32
ENSG00000188687	ENST00000444570	C9JU12
ENSG00000188687	ENST00000480696	A0A1B0GUV9
ENSG00000188687	ENST00000637036	A0A1B0GVY3

Expression (GTEx)

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

Pathway	Source	External ID
Bile secretion	KEGG	ko04976
Bile secretion	KEGG	hsa04976
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptides	REACTOME	R-HSA-425393
Bicarbonate transporters	REACTOME	R-HSA-425381

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
22987918	2012	Salt sensitivity of blood pressure is associated with polymorphisms in the sodium-bicarbonate cotransporter.	40
16365189	2006	Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures.	29
16365189	2006	Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures.	29
19487301	2009	Genetic and environmental risks for high blood pressure among African American mothers and daughters.	25
22764636	2012	Gene-environment effects of SLC4A5 and skin color on blood pressure among African American women.	16
19384345	2009	Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.	13
19384345	2009	Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.	13
26447209	2015	The sodium-bicarbonate cotransporter NBCe2 (slc4a5) expressed in human renal proximal tubules shows increased apical expression under high-salt conditions.	8
29642240	2018	Sodium bicarbonate cotransporter NBCe2 gene variants increase sodium and bicarbonate transport in human renal proximal tubule cells.	6
26136555	2015	Physiological role of NBCe2 in the regulation of electrolyte transport in the distal nephron.	3

Citation

Dessen P

SLC4A5 (solute carrier family 4 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53769/slc4a5