SLC4A8 - solute carrier family 4 member 8 Gene

Also Known as NBC3; NDCBE

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

Band_3_cyto: Band 3 cytoplasmic domain (145 - 403)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (444 - 958)

  • 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

関連疾患

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)
製品番号 製品名
製品効果
純度
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

生物種 Symbol 由来 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