SLC4A8 - solute carrier family 4 member 8 Gene

Homo sapiens

Also known as NBC3; NDCBE

Gene ID: 9498 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13273	SLC4A8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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