SLC4A4 - solute carrier family 4 member 4 Gene

中文名称：溶质载体家族 4 成员 4

种属: Homo sapiens

同用名: KNBC; NBC1; NBC2; pNBC; HNBC1; NBCe1; hhNMC; kNBC1; SLC4A5; NBCe1-A

基因 ID: 8671 | 基因类型: protein coding

关于 SLC4A4

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:71,062,660-71,572,083 (from NCBI)

This gene has 10 transcripts (splice variants), 283 orthologues, 9 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 56.0), pancreas (RPKM 31.5) and 12 other tissues.

功能概要

该基因编码参与碳酸氢盐分泌和吸收以及细胞内 pH 调节的碳酸氢钠协同转运蛋白 (NBC) 。该基因的突变与近端肾小管酸中毒有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 10 月]

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

SLC4A4 基因产物(3)

mRNA	Protein	Name
NM_001098484.3	NP_001091954.1	electrogenic sodium bicarbonate cotransporter 1 isoform 1
NM_001134742.2	NP_001128214.1	electrogenic sodium bicarbonate cotransporter 1 isoform 3
NM_003759.4	NP_003750.1	electrogenic sodium bicarbonate cotransporter 1 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 identical protein binding	IPI IPI: 通过物理相互作用推断	20798035	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	14567693	GOA
enables sodium:bicarbonate symporter activity	IDA IDA: 通过直接分析推断	9235899	GOA
enables sodium:bicarbonate symporter activity	IMP IMP: 通过突变表型推断	15218065	GOA
enables symporter activity	IMP IMP: 通过突变表型推断	29500354	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	10069984	GOA
involved in bicarbonate transport	IMP IMP: 通过突变表型推断	16636648	GOA
acts upstream of positive regulation of glycolytic process	IGI IGI: 通过遗传相互作用推断	21976511	GOA
acts upstream of regulation of intracellular pH	IDA IDA: 通过直接分析推断	10069984	GOA
acts upstream of regulation of intracellular pH	IGI IGI: 通过遗传相互作用推断	21976511	GOA
involved in regulation of intracellular pH	IMP IMP: 通过突变表型推断	24453308	GOA
acts upstream of regulation of membrane potential	IDA IDA: 通过直接分析推断	10069984	GOA
involved in sodium ion export across plasma membrane	IMP IMP: 通过突变表型推断	16636648	GOA
involved in sodium ion transmembrane transport	IDA IDA: 通过直接分析推断	10069984	GOA
involved in sodium ion transport	IDA IDA: 通过直接分析推断	16769890	GOA
involved in transmembrane transport	IMP IMP: 通过突变表型推断	29500354	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	12907161	GOA
located in basolateral plasma membrane	IMP IMP: 通过突变表型推断	15713912	GOA
located in cell surface	IDA IDA: 通过直接分析推断	29500354	GOA
is active in membrane	IDA IDA: 通过直接分析推断	10069984	GOA
located in membrane	IDA IDA: 通过直接分析推断	27717805	GOA
is active in plasma membrane	IDA IDA: 通过直接分析推断	16636648	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	10069984	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	15817634	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

SLC4A4 蛋白结构

Band_3_cyto

HCO3_cotransp

0
200
400
600
800
1000
1079 a.a.

蛋白主名

其他名称

electrogenic sodium bicarbonate cotransporter 1

Na(+)/HCO3(-) cotransporter

关联疾病

疾病名称

别名

Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation

Autosomal Recessive Proximal Renal Tubular Acidosis	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities
Rta, Proximal, Autosomal Recessive	Ar Prta
Proximal Renal Tubular Acidosis With Ocular Abnormalities And Intellectual Disability	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Intellectual Disability
PRTA-OA	Autosomal Recessive Proximal Rta
Proximal Renal Tubular Acidosis With Ocular Abnormalities	Acidosis, Tubular, Renal, Proximal, With Ocular Abnormalities And Mental Retardation

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]

Renal Tubular Acidosis, Proximal

Proximal Renal Tubular Acidosis	Renal Tubular Acidosis Ii
Rta, Proximal Type	Rta, Rate Type
Renal Tubular Acidosis Type 2	Prta
Renal Tubular Acidosis, Type Ii

Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

Metabolic Acidosis

Corneal Degeneration

Degenerative Corneal Opacity

Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome

Hupra Syndrome	Alkalosis
HUPRAS	Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis
Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome
Alkalosis Nos

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Ileus

Ileus Of Intestine

Intraocular Pressure Quantitative Trait Locus

Glaucoma	IOPQTL
Glaucoma, Susceptibility To	Postinfectious Glaucoma
Glaucoma With Ocular Inflammation	Glaucoma Secondary To Eye Inflammation
Traumatic Glaucoma	Glaucoma With Concussion Of Globe
Glaucoma Due To Ocular Trauma	Glaucoma Associated With Ocular Trauma
Glaucoma Secondary To Drugs

Migraine, Familial Hemiplegic, 3

FHM3	Familial Hemiplegic Migraine 3
Mhp3	Migraine, Hemiplegic, Familial, Type 3

Migraine, Familial Hemiplegic, 2

FHM2	Mhp2
Migraine, Familial Basilar	Familial Hemiplegic Migraine 2
Familial Hemiplegic Migraine-2	Familiar Basilar Migraine
Migraine, Hemiplegic, Familial, Type 2

Intestinal Impaction

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis	Marble Brain Disease
OPTB3	Guibaud-Vainsel Syndrome
Carbonic Anhydrase Ii Deficiency	Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
Autosomal Recessive Osteopetrosis 3	Carbonic Anhydrase 2 Deficiency
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis	Osteopetrosis Autosomal Recessive 3
Autosomal Recessive Osteopetrosis Type 3	Guibaud Vainsel Syndrome
Mixed Rta	Mixed Renal Tubular Acidosis
Renal Tubular Acidosis Type 3	Carbonic Anhydrase Ii Deficiency Syndrome
Carbonic Anhydrase Ii Variant	Osteopetrosis, Autosomal Recessive, Type 3
Carbonic Anhydrase 2

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

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

Migraine, Familial Hemiplegic, 1

FHM1	Mhp1
Fhm	Familial Hemiplegic Migraine 1
Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia	Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia
Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia	Migraine, Hemiplegic, Familial, Type 1
Hemiplegic Migraine, Familial Type 1

Osteopetrosis, Autosomal Recessive 6

OPTB6	Autosomal Recessive Osteopetrosis 6
Autosomal Recessive Osteopetrosis Intermediate Form	Osteopetrosis, Autosomal Recessive, Intermediate Form
Osteopetrosis Autosomal Recessive 6	Autosomal Recessive Osteopetrosis Type 6
Osteopetrosis Autosomal Recessive Intermediate Form	Intermediate Osteopetrosis
Autosomal Recessive Intermediate Osteopetrosis	Osteopetrosis, Autosomal Recessive, Type 6

Retinitis Pigmentosa 17

RP17	Retinitis Pigmentosa-17
Retinitis Pigmentosa, Type 17

Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial	Hemiplegic-Ophthalmoplegic Migraine
Fhm	Hemiplegic Migraine Familial

Basal Ganglia Calcification

Fahr'S Syndrome	Fahr'S Disease
Fahr Disease

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13270	SLC4A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS19074	Slc4a4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS25564	Slc4a4 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	SLC4A4	VGNC	VGNC:46434
Mus musculus	SLC4A4	MGD	MGI:1927555
Macaca mulatta	SLC4A4	VGNC	VGNC:77605
Bos taurus	SLC4A4	VGNC	VGNC:34894
Rattus norvegicus	SLC4A4	RGD	RGD:68936
Felis catus	SLC4A4	VGNC	VGNC:65389
Others	SLC4A4	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SLC4A4 - solute carrier family 4 member 4 Gene

关于 SLC4A4

功能概要

SLC4A4 基因产物(3)

SLC4A4 蛋白结构

关联疾病

直系同源

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SLC4A4 - solute carrier family 4 member 4 Gene

关于 SLC4A4

功能概要

SLC4A4 基因产物(3)

SLC4A4 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

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