2. Gene
  3. SLC4A11 - solute carrier family 4 member 11 Gene

SLC4A11 - solute carrier family 4 member 11 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 11

种属: Homo sapiens

同用名: BTR1; CHED; CDPD1; CHED2; NABC1; dJ794I6.2

基因 ID: 83959 | 基因类型: protein coding

关于 SLC4A11

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,227,417-3,239,559 (from NCBI)

This gene has 12 transcripts (splice variants), 251 orthologues, 9 paralogues and is associated with 8 phenotypes. Biased expression in thyroid (RPKM 6.2), kidney (RPKM 5.1) and 12 other tissues.

功能概要

该基因编码一种电压调节的、产电的钠偶联硼酸盐协同转运蛋白，它对硼酸盐稳态、细胞生长和细胞增殖至关重要。该基因的突变与许多内皮角膜营养不良有关，包括隐性角膜内皮营养不良 2、角膜营养不良和知觉性耳聋以及 Fuchs 内皮角膜营养不良。已经描述了编码不同亚型的多个转录变体。[RefSeq 提供，2010 年 3 月]

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

SLC4A11 基因产物(8)

mRNA Protein Name
NM_001174089.2 NP_001167560.1 solute carrier family 4 member 11 isoform 3
NM_001174090.2 NP_001167561.1 solute carrier family 4 member 11 isoform 1
NM_001363745.2 NP_001350674.1 solute carrier family 4 member 11 isoform 4
NM_001400277.1 NP_001387206.1 solute carrier family 4 member 11 isoform 5
NM_001400278.1 NP_001387207.1 solute carrier family 4 member 11 isoform 5
NM_001400279.1 NP_001387208.1 solute carrier family 4 member 11 isoform 5
NM_001400280.1 NP_001387209.1 solute carrier family 4 member 11 isoform 6
NM_032034.4 NP_114423.1 solute carrier family 4 member 11 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 active borate transmembrane transporter activity IDA
IDA: 通过直接分析推断
15525507 GOA
enables bicarbonate transmembrane transporter activity IDA
IDA: 通过直接分析推断
15525507 GOA
enables protein dimerization activity IDA
IDA: 通过直接分析推断
22072594 GOA
enables proton channel activity IDA
IDA: 通过直接分析推断
15525507 GOA
enables proton transmembrane transporter activity IDA
IDA: 通过直接分析推断
27581649 GOA
enables sodium channel activity IDA
IDA: 通过直接分析推断
15525507 GOA
enables water transmembrane transporter activity IDA
IDA: 通过直接分析推断
23813972 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
15525507 GOA
involved in borate transport IDA
IDA: 通过直接分析推断
15525507 GOA
involved in cellular hypotonic response IDA
IDA: 通过直接分析推断
23813972 GOA
involved in cellular response to oxidative stress IMP
IMP: 通过突变表型推断
28642546 GOA
involved in intracellular monoatomic cation homeostasis IDA
IDA: 通过直接分析推断
15525507 GOA
involved in proton transmembrane transport IDA
IDA: 通过直接分析推断
15525507 GOA
involved in regulation of mitochondrial membrane potential IMP
IMP: 通过突变表型推断
28642546 GOA
involved in sodium ion transport IDA
IDA: 通过直接分析推断
15525507 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
17715183 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
17715183 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

SLC4A11 蛋白结构

PTS_EIIA_2

PTS_EIIA_2: Phosphoenolpyruvate-dependent sugar phosphotransferase system, EIIA 2 (224 - 299)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (342 - 833)

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

solute carrier family 4 member 11

bicarbonate transporter related protein 1

关联疾病

疾病名称 别名
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
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
Corneal Dystrophy, Fuchs Endothelial, 4

FECD4

Corneal Dystrophy, Fuchs Endothelial, Late-Onset

Corneal Dystrophy Fuchs Endothelial Late-Onset

Fuchs Dystrophy Late-Onset

Dystrophy, Corneal, Fuchs Endothelial, Type 4
Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2
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
Corneal Dystrophy
Corneal Disease

Corneal Diseases

Corneal Disorders
Corneal Dystrophy, Endothelial, X-Linked

X-Linked Endothelial Corneal Dystrophy

XECD

Endothelial Corneal Dystrophy, X-Linked
Secondary Corneal Edema
Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters
Corneal Dystrophy, Posterior Polymorphous, 3

Posterior Polymorphous Corneal Dystrophy 3

PPCD3

Dystrophy, Corneal, Posterior Polymorphous, Type 3
Corneal Edema

Corneal Oedema

Infiltrate Of Cornea
Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy

Fcd

CFD

Corneal Fleck Dystrophy

Francois-Neetens Speckled Corneal Dystrophy

Corneal Dystrophy, Francois-Neetens Speckled Or Flecked

Corneal Dystrophy Francois-Neetens Speckled Or Flecked

Dystrophy, Corneal, Fleck
Corneal Degeneration

Degenerative Corneal Opacity
Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea
Macular Dystrophy, Corneal

Macular Corneal Dystrophy

MCD

Corneal Dystrophy, Macular Type

Groenouw Type Ii Corneal Dystrophy

Fehr Corneal Dystrophy

Macular Dystrophy, Corneal Type 1

Mcdc1

Macular Corneal Dystrophy Type Ii

Macular Corneal Dystrophy, Type Ii

Macular Corneal Dystrophy, Type I

Mcdc1, Formerly

Macular Dystrophy, Corneal, 1

Macular Corneal Dystrophy Type 1

Corneal Dystrophy Groenouw Type Ii

Corneal Dystrophy Macular Type

Macular Corneal Dystrophy Type I

Dystrophy, Macular, Corneal
Granular Corneal Dystrophy

Granular Dystrophy Corneal

Corneal Dystrophies, Hereditary

Hereditary Corneal Dystrophy

Corneal Dystrophy Nos

Familial Hereditary Corneal Degeneration

Hereditary Corneal Opacity
Corneal Dystrophy, Reis-Bucklers Type

Reis-Bucklers Corneal Dystrophy

Rbcd

CDRB

Cdb1

Corneal Dystrophy Of Bowman Layer Type I

Geographic Corneal Dystrophy

Granular Corneal Dystrophy Type Iii

Reis-Bucklers' Corneal Dystrophy

Anterior Limiting Membrane Dystrophy Type I

Corneal Dystrophy Of Bowman Layer Type 1

Corneal Dystrophy Of Bowman Layer, Type I

Corneal Dystrophy, Geographic

Granular Corneal Dystrophy, Type Iii

Corneal Dystrophy Reis Bucklers Type

Corneal Dystrophy Geographic

Reis Bucklers Corneal Dystrophy

Reis Bucklers Dystrophy

Anterior Limiting Membrane Dystrophy Type 1

Atypical Granular Corneal Dystrophy

Granular Corneal Dystrophy Type 3

Superficial Granular Corneal Dystrophy

Corneal Dystrophy Of Bowman Layer, Type 1

Dystrophy, Corneal, Reis-Bucklers Type
Corneal Dystrophy, Posterior Polymorphous, 2

Posterior Polymorphous Corneal Dystrophy 2

PPCD2

Corneal Dystrophy, Posterior Polymorphous 2

Corneal Dystrophy Polymorphous Posterior, 2

Dystrophy, Corneal, Posterior Polymorphous, Type 2
Irregular Astigmatism
Bullous Keratopathy

Bk - [Bullous Keratopathy]
Corneal Dystrophy, Gelatinous Drop-Like

Gelatinous Drop-Like Corneal Dystrophy

GDLD

Cdgdl

Corneal Amyloidosis

Lattice Corneal Dystrophy Type Iii

Amyloidosis, Corneal

Amyloid Corneal Dystrophy, Japanese Type

Gdcd

Primary Familial Amyloidosis Of The Cornea

Subepithelial Amyloidosis Of The Cornea

Corneal Dystrophy, Lattice Type 3

Corneal Dystrophy, Lattice Type Iii

Lattice Corneal Dystrophy, Type Iii

Amyloidosis Corneal

Lattice Corneal Dystrophy Type3

Amyloid Corneal Dystrophy Japanese Type

Dystrophy, Corneal, Gelatinous Drop-Like

Amyloid Of Cornea
Cogan-Reese Syndrome
Epithelial And Subepithelial Dystrophy
Epithelial Basement Membrane Dystrophy

Ebmd

Corneal Dystrophy, Epithelial Basement Membrane

Cogan Corneal Dystrophy

Microcystic Corneal Dystrophy

Anterior Basement Membrane Dystrophy

Cogan Microcystic Epithelial Dystrophy

Map-Dot-Fingerprint Dystrophy

Microscopic Cystic Corneal Dystrophy
Stromal Dystrophy
Corneal Ectasia
Sclerocornea

Isolated Congenital Sclerocornea
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy
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

Approval
生物活性分子 (2)
目录号 产品名 作用方式
纯度 是否罕见病
HY-B1153 Glafenine Antagonist 98.75% 否
HY-B1153A Glafenine hydrochloride Antagonist 99.25% 否
Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13267 SLC4A11 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SLC4A11 VGNC VGNC:34891
Felis catus SLC4A11 VGNC VGNC:65385
Rattus norvegicus SLC4A11 RGD RGD:1310188
Macaca mulatta SLC4A11 VGNC VGNC:77721
Mus musculus SLC4A11 MGD MGI:2138987
Canis familiaris SLC4A11 VGNC VGNC:46431
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