SLC4A10 (solute carrier family 4 member 10)

2007-04-01 Affiliation

Identity

HGNC

SLC4A10

LOCATION

2q24.2

LOCUSID

57282

ALIAS

NBCn2,NCBE

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: 57282
MIM: 605556
HGNC: 13811
Ensembl: ENSG00000144290

Variants:

dbSNP: 57282
ClinVar: 57282
TCGA: ENSG00000144290
COSMIC: SLC4A10

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000144290	ENST00000272716	C9J240
ENSG00000144290	ENST00000375514	Q6U841
ENSG00000144290	ENST00000415876	Q6U841
ENSG00000144290	ENST00000421911	E7EW28
ENSG00000144290	ENST00000446228	F8WDX9
ENSG00000144290	ENST00000446997	Q6U841

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38054405	2024	Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.	2
38054405	2024	Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.	2
37459438	2023	SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.	3
37459438	2023	SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.	3
28360221	2017	NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.	17
28360221	2017	NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.	17
20101282	2010	AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.	7
20101282	2010	AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.	7
20331378	2010	Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus.	30
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20101282	2010	AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.	7
20101282	2010	AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.	7
20331378	2010	Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus.	30
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
18319254	2008	Characterization of human SLC4A10 as an electroneutral Na/HCO3 cotransporter (NBCn2) with Cl- self-exchange activity.	58

Citation

Dessen P

SLC4A10 (solute carrier family 4 member 10)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46744/css/template-nav.css