Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC4A11 Gene

Aliases for SLC4A11 Gene

  • Solute Carrier Family 4 Member 11 2 3 4 5
  • Solute Carrier Family 4, Sodium Bicarbonate Transporter-Like, Member 11 2 3
  • Solute Carrier Family 4, Sodium Borate Transporter, Member 11 2 3
  • NABC1 3 4
  • BTR1 3 4
  • Corneal Endothelial Dystrophy 2 (Autosomal Recessive) 2
  • Sodium Bicarbonate Transporter-Like Protein 11 3
  • Corneal Dystrophy And Perceptive Deafness 1 2
  • Bicarbonate Transporter Related Protein 1 3
  • Bicarbonate Transporter-Related Protein 1 4
  • Sodium-Coupled Borate Cotransporter 1 3
  • Sodium Borate Cotransporter 1 4
  • DJ794I6.2 3
  • CHED2 3
  • CDPD1 3
  • CHED 3

External Ids for SLC4A11 Gene

Previous HGNC Symbols for SLC4A11 Gene

  • CHED2
  • CDPD1

Previous GeneCards Identifiers for SLC4A11 Gene

  • GC20M003196
  • GC20M003156

Summaries for SLC4A11 Gene

Entrez Gene Summary for SLC4A11 Gene

  • 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]

GeneCards Summary for SLC4A11 Gene

SLC4A11 (Solute Carrier Family 4 Member 11) is a Protein Coding gene. Diseases associated with SLC4A11 include Corneal Endothelial Dystrophy 2, Autosomal Recessive and Corneal Endothelial Dystrophy And Perceptive Deafness. GO annotations related to this gene include transporter activity and symporter activity. An important paralog of this gene is SLC4A3.

UniProtKB/Swiss-Prot for SLC4A11 Gene

  • Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.

Gene Wiki entry for SLC4A11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A11 Gene

Genomics for SLC4A11 Gene

Regulatory Elements for SLC4A11 Gene

Enhancers for SLC4A11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F003339 0.8 ENCODE 17.2 -99.3 -99252 1.5 INSM2 ITPA C20orf194 SLC4A11 UBE2V1P1 ENSG00000201346 DDRGK1 PIR52080 GC20P003360
GH20F003406 0.6 ENCODE 13.9 -166.2 -166240 3.2 PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GLIS2 ITPA ZNF343 SLC4A11 VPS16 CDC25B C20orf194 LOC105372509
GH20F003430 1.2 FANTOM5 Ensembl ENCODE 13.4 -189.3 -189315 1.6 ZNF146 PKNOX1 MAX CEBPB ZBTB33 MYC C20orf194 SLC4A11 ENSG00000201346 UBE2V1P1 RNU6-1019P DDRGK1 PANK2 LOC105372508 LOC105372509
GH20F003306 0.9 Ensembl 11.8 -64.6 -64619 0.2 SLC4A11 ITPA RNU6-1019P UBE2V1P1 LOC101618237 PIR52080
GH20F003311 1.3 Ensembl ENCODE 8.7 -71.8 -71828 3.2 TBP ZNF146 ZNF7 ZNF316 PRDM10 NFE2 NR2F6 MAFK NFE2L2 CHD2 ITPA C20orf194 SLC4A11 PIR52080 LOC101618237
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC4A11 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC4A11 Gene

Chromosome:
20
Start:
3,227,417 bp from pter
End:
3,241,482 bp from pter
Size:
14,066 bases
Orientation:
Minus strand

Genomic View for SLC4A11 Gene

Genes around SLC4A11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A11 Gene

Proteins for SLC4A11 Gene

  • Protein details for SLC4A11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBS3-S4A11_HUMAN
    Recommended name:
    Sodium bicarbonate transporter-like protein 11
    Protein Accession:
    Q8NBS3
    Secondary Accessions:
    • B4DKC8
    • B4DKX9
    • G3V1M3
    • Q2TB62
    • Q2TB63
    • Q9BXF4
    • Q9NTW9

    Protein attributes for SLC4A11 Gene

    Size:
    891 amino acids
    Molecular mass:
    99581 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAC11536.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB90170.4; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAD55942.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC4A11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC4A11 Gene

Post-translational modifications for SLC4A11 Gene

No data available for DME Specific Peptides for SLC4A11 Gene

Domains & Families for SLC4A11 Gene

Gene Families for SLC4A11 Gene

Protein Domains for SLC4A11 Gene

Suggested Antigen Peptide Sequences for SLC4A11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBS3

UniProtKB/Swiss-Prot:

S4A11_HUMAN :
  • Belongs to the anion exchanger (TC 2.A.31) family.
Family:
  • Belongs to the anion exchanger (TC 2.A.31) family.
genes like me logo Genes that share domains with SLC4A11: view

Function for SLC4A11 Gene

Molecular function for SLC4A11 Gene

UniProtKB/Swiss-Prot Function:
Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.

Gene Ontology (GO) - Molecular Function for SLC4A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005272 sodium channel activity IDA 15525507
GO:0005452 inorganic anion exchanger activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IDA 15525507
GO:0015252 hydrogen ion channel activity IDA 15525507
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC4A11: view
genes like me logo Genes that share phenotypes with SLC4A11: view

Human Phenotype Ontology for SLC4A11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC4A11 Gene

MGI Knock Outs for SLC4A11:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SLC4A11 Gene

Localization for SLC4A11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A11 Gene

Cell membrane. Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC4A11 Gene COMPARTMENTS Subcellular localization image for SLC4A11 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC4A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane TAS 15525507
genes like me logo Genes that share ontologies with SLC4A11: view

Pathways & Interactions for SLC4A11 Gene

SuperPathways for SLC4A11 Gene

No Data Available

Interacting Proteins for SLC4A11 Gene

Gene Ontology (GO) - Biological Process for SLC4A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IDA 15525507
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
genes like me logo Genes that share ontologies with SLC4A11: view

No data available for Pathways by source and SIGNOR curated interactions for SLC4A11 Gene

Drugs & Compounds for SLC4A11 Gene

(1) Drugs for SLC4A11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Boron Pharma 19
genes like me logo Genes that share compounds with SLC4A11: view

Transcripts for SLC4A11 Gene

Unigene Clusters for SLC4A11 Gene

Solute carrier family 4, sodium borate transporter, member 11:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A11 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - -
SP2: -
SP3:
SP4: -
SP5:
SP6: -
SP7:

ExUns: 20 ^ 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SLC4A11 Gene

GeneLoc Exon Structure for
SLC4A11
ECgene alternative splicing isoforms for
SLC4A11

Expression for SLC4A11 Gene

mRNA expression in normal human tissues for SLC4A11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC4A11 Gene

This gene is overexpressed in Thyroid (x10.3), Minor Salivary Gland (x9.3), and Kidney - Cortex (x6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC4A11 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC4A11 Gene:

SLC4A11

SOURCE GeneReport for Unigene cluster for SLC4A11 Gene:

Hs.105607

mRNA Expression by UniProt/SwissProt for SLC4A11 Gene:

Q8NBS3-S4A11_HUMAN
Tissue specificity: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes.
genes like me logo Genes that share expression patterns with SLC4A11: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for SLC4A11 Gene

Orthologs for SLC4A11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC4A11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC4A11 34 35
  • 98.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Slc4a11 34
  • 85.26 (n)
mouse
(Mus musculus)
Mammalia Slc4a11 34 16 35
  • 84.87 (n)
cow
(Bos Taurus)
Mammalia SLC4A11 34 35
  • 84.2 (n)
dog
(Canis familiaris)
Mammalia SLC4A11 34 35
  • 83.22 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC4A11 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A11 34 35
  • 69.95 (n)
lizard
(Anolis carolinensis)
Reptilia SLC4A11 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a11 34
  • 69.65 (n)
zebrafish
(Danio rerio)
Actinopterygii slc4a11 34 35
  • 65.9 (n)
worm
(Caenorhabditis elegans)
Secernentea abts-3 34 35
  • 49.06 (n)
abts-2 35
  • 36 (a)
OneToMany
F52D10.1 36
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOR1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9446 35
  • 46 (a)
OneToOne
Species where no ortholog for SLC4A11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC4A11 Gene

ENSEMBL:
Gene Tree for SLC4A11 (if available)
TreeFam:
Gene Tree for SLC4A11 (if available)

Paralogs for SLC4A11 Gene

Paralogs for SLC4A11 Gene

genes like me logo Genes that share paralogs with SLC4A11: view

Variants for SLC4A11 Gene

Sequence variations from dbSNP and Humsavar for SLC4A11 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs121909387 Corneal endothelial dystrophy (CHED) [MIM:217700], Pathogenic 3,228,684(-) GACGC(A/G)GCTGA nc-transcript-variant, reference, missense
rs121909388 Corneal endothelial dystrophy (CHED) [MIM:217700], Pathogenic 3,230,258(-) CAGGT(C/T)GACGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs121909389 Corneal endothelial dystrophy (CHED) [MIM:217700], Pathogenic 3,230,587(-) GACGG(A/G)CCTGT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121909391 Corneal endothelial dystrophy (CHED) [MIM:217700], Pathogenic 3,228,260(-) CCATC(C/T)GGTAC nc-transcript-variant, downstream-variant-500B, reference, missense
rs121909392 Corneal endothelial dystrophy (CHED) [MIM:217700], Pathogenic 3,228,259(-) CATCC(A/G)GTACA nc-transcript-variant, downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC4A11 Gene

Variant ID Type Subtype PubMed ID
nsv1067207 CNV gain 25217958
nsv528355 CNV loss 19592680
nsv585276 CNV gain 21841781
nsv833898 CNV gain+loss 17160897
nsv952979 CNV deletion 24416366

Variation tolerance for SLC4A11 Gene

Residual Variation Intolerance Score: 14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.67; 65.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC4A11 Gene

Human Gene Mutation Database (HGMD)
SLC4A11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A11 Gene

Disorders for SLC4A11 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC4A11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
corneal endothelial dystrophy 2, autosomal recessive
  • ched2
corneal endothelial dystrophy and perceptive deafness
  • corneal dystrophy and perceptive deafness
corneal dystrophy, fuchs endothelial, 4
  • corneal dystrophy fuchs endothelial late-onset
corneal endothelial dystrophy
  • endothelial dystrophy
corneal endothelial dystrophy type 2
  • ched2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S4A11_HUMAN
  • Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]: An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. {ECO:0000269 PubMed:17220209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269 PubMed:18024964, ECO:0000269 PubMed:20848555, ECO:0000269 PubMed:25007886}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corneal endothelial dystrophy (CHED) [MIM:217700]: A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. {ECO:0000269 PubMed:16767101, ECO:0000269 PubMed:16825429, ECO:0000269 PubMed:17220209, ECO:0000269 PubMed:17397048, ECO:0000269 PubMed:17679935, ECO:0000269 PubMed:18474783, ECO:0000269 PubMed:19369245, ECO:0000269 PubMed:20108384, ECO:0000269 PubMed:21203343, ECO:0000269 PubMed:26286922}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC4A11

Genetic Association Database (GAD)
SLC4A11
Human Genome Epidemiology (HuGE) Navigator
SLC4A11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC4A11
genes like me logo Genes that share disorders with SLC4A11: view

No data available for Genatlas for SLC4A11 Gene

Publications for SLC4A11 Gene

  1. Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. (PMID: 11302728) Parker M.D. … Tanner M.J.A. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 22 64
  2. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. (PMID: 19369245) Aldahmesh M.A. … Alkuraya F.S. (Invest. Ophthalmol. Vis. Sci. 2009) 3 4 22 64
  3. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. (PMID: 17679935) Sultana A. … Kannabiran C. (Mol. Vis. 2007) 3 4 22 64
  4. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). (PMID: 16767101) Vithana E.N. … Aung T. (Nat. Genet. 2006) 2 3 4 64
  5. Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). (PMID: 26286922) Kaul H. … Idrees S. (Clin. Exp. Optom. 2015) 3 4 64

Products for SLC4A11 Gene

Sources for SLC4A11 Gene

Content
Loading form....