2. Gene
  3. SLC4A8 - solute carrier family 4 member 8 Gene

SLC4A8 - solute carrier family 4 member 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 4 成员 8

种属: Homo sapiens

同用名: NBC3; NDCBE

基因 ID: 9498 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种膜蛋白，其功能是将钠离子和碳酸氢根离子转运穿过细胞膜。编码的蛋白质对神经元的 pH 调节很重要。这种蛋白质的活性可以被 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS) 抑制。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2012 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables bicarbonate transmembrane transporter activity IDA
IDA: 通过直接分析推断
11133997 GOA
enables chloride transmembrane transporter activity IDA
IDA: 通过直接分析推断
11133997 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
28935959 GOA
enables sodium ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
11133997 GOA
enables sodium,bicarbonate:chloride antiporter activity IDA
IDA: 通过直接分析推断
11133997 GOA
enables sodium:bicarbonate symporter activity IDA
IDA: 通过直接分析推断
11133997 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
28935959 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bicarbonate transport IDA
IDA: 通过直接分析推断
11133997 GOA
involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
11133997 GOA
acts upstream of or within regulation of intracellular pH IDA
IDA: 通过直接分析推断
11133997 GOA
acts upstream of or within regulation of membrane potential IDA
IDA: 通过直接分析推断
11133997 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
11133997 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in dendrite IDA
IDA: 通过直接分析推断
17715183 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
18577713 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC4A8 蛋白结构

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.
蛋白主名 其他名称

electroneutral sodium bicarbonate exchanger 1

electroneutral Na(+)-driven Cl-HCO3 exchanger

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13273 SLC4A8 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21937 Slc4a8 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28453 Slc4a8 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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