SLC4A8 - solute carrier family 4 member 8 Gene

Also Known as NBC3; NDCBE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9498

About SLC4A8

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:51,391,446-51,515,763 (from NCBI)

This gene has 18 transcripts (splice variants), 208 orthologues and 9 paralogues. Biased expression in testis (RPKM 5.0), brain (RPKM 4.6) and 9 other tissues.

Summary

The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

SLC4A8 Products (8)

mRNA	Protein	Name
NM_001039960.3	NP_001035049.1	electroneutral sodium bicarbonate exchanger 1 isoform a
NM_001258401.3	NP_001245330.1	electroneutral sodium bicarbonate exchanger 1 isoform c
NM_001258402.2	NP_001245331.1	electroneutral sodium bicarbonate exchanger 1 isoform d
NM_001258403.2	NP_001245332.1	electroneutral sodium bicarbonate exchanger 1 isoform e
NM_001267615.2	NP_001254544.1	electroneutral sodium bicarbonate exchanger 1 isoform f
NM_001405266.1	NP_001392195.1	electroneutral sodium bicarbonate exchanger 1 isoform e
NM_001405268.1	NP_001392197.1	electroneutral sodium bicarbonate exchanger 1 isoform 7
NM_001405270.1	NP_001392199.1	electroneutral sodium bicarbonate exchanger 1 isoform 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables bicarbonate transmembrane transporter activity	IDA IDA: Inferred from direct assay	11133997	GOA
enables chloride transmembrane transporter activity	IDA IDA: Inferred from direct assay	11133997	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	28935959	GOA
enables sodium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	11133997	GOA
enables sodium,bicarbonate:chloride antiporter activity	IDA IDA: Inferred from direct assay	11133997	GOA
enables sodium:bicarbonate symporter activity	IDA IDA: Inferred from direct assay	11133997	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	28935959	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bicarbonate transport	IDA IDA: Inferred from direct assay	11133997	GOA
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	11133997	GOA
acts upstream of or within regulation of intracellular pH	IDA IDA: Inferred from direct assay	11133997	GOA
acts upstream of or within regulation of membrane potential	IDA IDA: Inferred from direct assay	11133997	GOA
involved in sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	11133997	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in dendrite	IDA IDA: Inferred from direct assay	17715183	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18577713	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC4A8 Protein Structure

Band_3_cyto

HCO3_cotransp

0
200
400
600
800
1000
1093 a.a.

Protein Preferred Names	Protein Names
electroneutral sodium bicarbonate exchanger 1	electroneutral Na(+)-driven Cl-HCO3 exchanger

Related Diseases

Diseases	Alias
Corneal Dystrophy, Band-Shaped	Band Keratopathy Band-Shaped Keratopathy
Corneal Dystrophy And Perceptive Deafness	Corneal Dystrophy-Perceptive Deafness Syndrome CDPD Harboyan Syndrome Cdpd1 Corneal Dystrophy And Sensorineural Deafness Corneal Endothelial Dystrophy And Perceptive Deafness Corneal Dystrophy With Progressive Deafness Congenital Corneal Dystrophy, Progressive Sensorineural Deafness Corneal Dystrophy With Progressive Hearing Loss Corneal Dystrophy-Perceptive Hearing Loss Syndrome Dystrophy, Corneal, Endothelial, And Perceptive Deafness
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Complex Partial Epilepsy	Epilepsy, Complex Partial Complex Partial Epileptic Seizure Epilepsy, Psychomotor Psychomotor Epilepsy
Frontometaphyseal Dysplasia	Fmd Dysplasia, Frontometaphyseal
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13273	SLC4A8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21937	Slc4a8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28453	Slc4a8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC4A8	VGNC	VGNC:46437
Bos taurus	SLC4A8	VGNC	VGNC:34897
Macaca mulatta	SLC4A8	VGNC	VGNC:77607
Felis catus	SLC4A8	VGNC	VGNC:65392
Mus musculus	SLC4A8	MGD	MGI:1928745
Rattus norvegicus	SLC4A8	RGD	RGD:735164
Others	SLC4A8	NCBI