SLC4A8 (solute carrier family 4 member 8)

2014-11-01 Affiliation

Identity

HGNC

SLC4A8

LOCATION

12q13.13

LOCUSID

9498

ALIAS

NBC3,NDCBE

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: 9498
MIM: 605024
HGNC: 11034
Ensembl: ENSG00000050438

Variants:

dbSNP: 9498
ClinVar: 9498
TCGA: ENSG00000050438
COSMIC: SLC4A8

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000050438	ENST00000358657	Q2Y0W8
ENSG00000050438	ENST00000453097	Q2Y0W8
ENSG00000050438	ENST00000514353	Q2Y0W8
ENSG00000050438	ENST00000535225	Q2Y0W8

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
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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443309	Alcoholism	Disease	ClinicalAnnotation	associated		PD	32451486
PA448073	ethanol	Chemical	ClinicalAnnotation	associated		PD	32451486

References

Pubmed ID	Year	Title	Citations
18577713	2008	Cloning and characterization of novel human SLC4A8 gene products encoding Na+-driven Cl-/HCO3(-) exchanger variants NDCBE-A, -C, and -D.	20
28935959	2017	The crystal structure of the regulatory domain of the human sodium-driven chloride/bicarbonate exchanger.	2

Citation

Dessen P

SLC4A8 (solute carrier family 4 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73454/slc4a8