SLC4A11 - solute carrier family 4 member 11 Gene

Also Known as BTR1; CHED; CDPD1; CHED2; NABC1; dJ794I6.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83959

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables active borate transmembrane transporter activity	IDA IDA: Inferred from direct assay	15525507	GOA
enables bicarbonate transmembrane transporter activity	IDA IDA: Inferred from direct assay	15525507	GOA
enables protein dimerization activity	IDA IDA: Inferred from direct assay	22072594	GOA
enables proton channel activity	IDA IDA: Inferred from direct assay	15525507	GOA
enables proton transmembrane transporter activity	IDA IDA: Inferred from direct assay	27581649	GOA
enables sodium channel activity	IDA IDA: Inferred from direct assay	15525507	GOA
enables water transmembrane transporter activity	IDA IDA: Inferred from direct assay	23813972	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bicarbonate transport	IDA IDA: Inferred from direct assay	15525507	GOA
involved in borate transport	IDA IDA: Inferred from direct assay	15525507	GOA
involved in cellular hypotonic response	IDA IDA: Inferred from direct assay	23813972	GOA
involved in cellular response to oxidative stress	IMP IMP: Inferred from mutant phenotype	28642546	GOA
involved in intracellular monoatomic cation homeostasis	IDA IDA: Inferred from direct assay	15525507	GOA
involved in proton transmembrane transport	IDA IDA: Inferred from direct assay	15525507	GOA
involved in regulation of mitochondrial membrane potential	IMP IMP: Inferred from mutant phenotype	28642546	GOA
involved in sodium ion transport	IDA IDA: Inferred from direct assay	15525507	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	17715183	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	17715183	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

SLC4A11 Protein Structure

PTS_EIIA_2

HCO3_cotransp

0
200
400
600
800
891 a.a.

Protein Preferred Names	Protein Names
solute carrier family 4 member 11	bicarbonate transporter related protein 1

Related Diseases

Diseases	Alias
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-177554	KB05yne		99.97%	Unkown
HY-185414	KB05-Biotin		/	Unkown
HY-RS13267	SLC4A11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	SLC4A11	NCBI