SLC4A11 - solute carrier family 4 member 11 Gene

Homo sapiens

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

Gene ID: 83959 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13267	SLC4A11 Human Pre-designed siRNA Set A		/	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

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