1. Gene
  2. SLC4A3 - solute carrier family 4 member 3 Gene

SLC4A3 - solute carrier family 4 member 3 Gene

中文名称:溶质载体家族 4 成员 3

种属: Homo sapiens

同用名: AE3; SLC2C; CAE3/BAE3

基因 ID: 6508 | 基因类型: protein coding

关于 SLC4A3

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,627,630-219,641,971 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 53.3), ovary (RPKM 25.3) and 5 other tissues.

功能概要

该基因编码的蛋白质是质膜阴离子交换蛋白。已在大脑、心脏、肾脏、小肠和肺中发现编码的蛋白质。[RefSeq 提供,2016 年 5 月]

The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]

SLC4A3 基因产物(3)

mRNA Protein Name
NM_001326559.2 NP_001313488.2 anion exchange protein 3 isoform 2
NM_005070.4 NP_005061.3 anion exchange protein 3 isoform 1
NM_201574.3 NP_963868.3 anion exchange protein 3 isoform 2
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 IMP
IMP: 通过突变表型推断
29167417 GOA
enables chloride:bicarbonate antiporter activity IDA
IDA: 通过直接分析推断
7923606 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bicarbonate transport IMP
IMP: 通过突变表型推断
29167417 GOA
acts upstream of or within cardiac conduction IMP
IMP: 通过突变表型推断
29167417 GOA
involved in pH reduction IMP
IMP: 通过突变表型推断
29167417 GOA
involved in regulation of cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
29167417 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in external side of plasma membrane IMP
IMP: 通过突变表型推断
29167417 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
29167417 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

SLC4A3 蛋白结构

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (350 - 617)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (674 - 1161)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1232 a.a.
蛋白主名 其他名称

anion exchange protein 3

Anion exchanger 3, neuronal

SLC4A3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SLC4A3 P48751 TRAF2 Homo sapiens Q12933 32296183
种属内
SLC4A3 P48751 TRAF2 Homo sapiens Q12933 32296183
种属内
SLC4A3 P48751 TRAF2 Homo sapiens Q12933 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Familial Short Qt Syndrome

Sqts

Genetic Short Qt Syndrome

Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis

Subaortic Stenosis

Aortic Stenosis, Subvalvular

Cataract 14, Multiple Types

Cataract 14 Multiple Types

CTRCT14

Czp3

Cae3

Cataract, Zonular Pulverulent 3

Zonular Pulverulent Cataract 3

Cataract, Zonular Pulverulent-3

Cataract, Type 14, Multiple Types

Complex Partial Epilepsy

Epilepsy, Complex Partial

Complex Partial Epileptic Seizure

Epilepsy, Psychomotor

Psychomotor Epilepsy

Cone-Rod Dystrophy 1

CORD1

Crd1

Cone-Rod Retinal Dystrophy-1

Retinitis Pigmentosa 1

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus SLC4A3 MGD MGI:109350
Canis familiaris SLC4A3 VGNC VGNC:46433
Bos taurus SLC4A3 VGNC VGNC:34893
Macaca mulatta SLC4A3 VGNC VGNC:77604
Felis catus SLC4A3 VGNC VGNC:65388
Rattus norvegicus SLC4A3 RGD RGD:3712