SLC4A11 Gene (Protein Coding)

Solute Carrier Family 4 Member 11

GC20M003230
GIFtS:
41
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 cor... See more...

Aliases for SLC4A11 Gene

Aliases for SLC4A11 Gene

  • Solute Carrier Family 4 Member 11 2 3 4 5
  • BTR1 2 3 4
  • Solute Carrier Family 4, Sodium Bicarbonate Transporter-Like, Member 11 2 3
  • Solute Carrier Family 4, Sodium Borate Transporter, Member 11 2 3
  • Sodium Bicarbonate Transporter-Like Protein 11 3 4
  • DJ794I6.2 2 3
  • NaBC1 2 4
  • Corneal Endothelial Dystrophy 2 (Autosomal Recessive) 2
  • 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
  • SLC4A11 5
  • CDPD1 3
  • CHED2 3
  • NABC1 3
  • FECD4 2
  • CHED 3

External Ids for SLC4A11 Gene

Previous HGNC Symbols for SLC4A11 Gene

  • CHED2
  • CDPD1

Previous GeneCards Identifiers for SLC4A11 Gene

  • GC20M003196
  • GC20M003156
  • GC20M003203

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 Dystrophy And Perceptive Deafness and Corneal Endothelial Dystrophy. Gene Ontology (GO) annotations related to this gene include transporter activity and symporter activity. An important paralog of this gene is SLC4A4.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SLC4A11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC4A11 Gene

Genomics for SLC4A11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC4A11 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J003239 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 256.5 +2.0 1983 3 ZBTB10 SP1 HOMEZ SIN3A SMAD4 SAP130 ZNF341 GABPB1 RARA TEAD3 SLC4A11 ENSG00000277287 HSALNG0128241 ITPA DDRGK1 lnc-C20orf194-2
GH20J003237 Promoter 1 EPDnew Ensembl 250.7 +3.8 3783 0.2 MAFF TEAD3 ZNF48 HMG20B MAFK EZH2 ZBTB26 ENSG00000277287 HSALNG0128241 SLC4A11 ITPA lnc-C20orf194-2
GH20J003244 Enhancer 0.5 Ensembl 250.7 -0.8 -817 0.2 FOXA2 HDAC2 ZNF580 KLF1 WT1 SLC4A11 ENSG00000277287 lnc-SLC4A11-1 DNAAF9
GH20J003406 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 13.9 -166.0 -166017 3.8 TBP ZBTB10 SP1 MXD4 IKZF1 SMAD5 ZFP64 ELF1 CTCF NONO DNAAF9 ENSG00000288577 lnc-ATRN-4 lnc-C20orf194-1 ITPA SLC4A11 NOP56 VPS16 CDC25B
GH20J003430 Enhancer 0.8 FANTOM5 ENCODE 13.4 -189.0 -189014 0.9 EBF1 SPI1 POLR2A MYC MAX ZBTB33 TCF12 IKZF1 DPF2 IKZF2 HSALNG0128250 HSALNG0128251 LOC105372508 DNAAF9 SLC4A11 ENSG00000201346 UBE2V1P1 RNU6-1019P DDRGK1 PANK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC4A11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC4A11

Top Transcription factor binding sites by QIAGEN in the SLC4A11 gene promoter:
  • c-Fos
  • FOXJ2
  • FOXJ2 (long isoform)
  • GCNF
  • GCNF-1
  • GCNF-2
  • MyoD
  • p53
  • SEF-1 (1)
  • XBP-1

Genomic Locations for SLC4A11 Gene

Latest Assembly
chr20:3,227,417-3,241,484
(GRCh38/hg38)
Size:
14,068 bases
Orientation:
Minus strand

Previous Assembly
chr20:3,208,063-3,219,836
(GRCh37/hg19 by Entrez Gene)
Size:
11,774 bases
Orientation:
Minus strand

chr20:3,208,063-3,219,836
(GRCh37/hg19 by Ensembl)
Size:
11,774 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 Structure • Gene Density

RefSeq DNA sequence for SLC4A11 Gene

Proteins for SLC4A11 Gene

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  • 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=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC4A11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC4A11 Gene

Protein Expression for SLC4A11 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC4A11 Gene

Other Protein References for SLC4A11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC4A11 Gene

Domains & Families for SLC4A11 Gene

Gene Families for SLC4A11 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC4A11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC4A11 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 4 member 11 (S4A11_HUMAN)

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

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  6. Cell Lines for research

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.

Phenotypes From GWAS Catalog for SLC4A11 Gene

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 proton 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A11

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC4A11 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC4A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,ISS 17715183
GO:0012506 vesicle membrane ISS 17715183
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

PathCards logo

SuperPathways for SLC4A11 Gene

No Data Available

Interacting Proteins for SLC4A11 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000369399 Q8NBS3-S4A11_HUMAN for SLC4A11 Gene via STRING IID

GPS-Prot Interaction Network for SLC4A11

Gene Ontology (GO) - Biological Process for SLC4A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IDA 15525507
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015701 bicarbonate transport IDA 15525507
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

Products:

  1. Drug products for research

(1) Drugs for SLC4A11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Boron Experimental Pharma 28
genes like me logo Genes that share compounds with SLC4A11: view

Transcripts for SLC4A11 Gene

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mRNA/cDNA for SLC4A11 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A11

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

Expression for SLC4A11 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC4A11 Gene

mRNA expression in normal human tissues for SLC4A11 Gene
mRNA expression by GTEx for SLC4A11 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SLC4A11 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SLC4A11 Gene

  • Kidney(4.5)
  • Nervous system(4.3)
  • Eye(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
General:
  • blood vessel
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SLC4A11: view

Primer products for research

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 30 31
  • 98.84 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 87 (a)
 OneToMany
-- 31
  • 79 (a)
 OneToMany
-- 31
  • 71 (a)
 OneToMany
-- 31
  • 70 (a)
 OneToMany
-- 31
  • 69 (a)
 OneToMany
-- 31
  • 67 (a)
 OneToMany
-- 31
  • 66 (a)
 OneToMany
-- 31
  • 65 (a)
 OneToMany
-- 31
  • 64 (a)
 OneToMany
-- 31
  • 63 (a)
 OneToMany
-- 31
  • 60 (a)
 OneToMany
-- 31
  • 58 (a)
 OneToMany
-- 31
  • 58 (a)
 OneToMany
-- 31
  • 57 (a)
 OneToMany
-- 31
  • 57 (a)
 OneToMany
-- 31
  • 57 (a)
 OneToMany
-- 31
  • 50 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Slc4a11 30
  • 85.26 (n)
Mouse
(Mus musculus)
 Mammalia Slc4a11 30 17 31
  • 84.87 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC4A11 30 31
  • 84.2 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC4A11 30 31
  • 83.22 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC4A11 31
  • 64 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC4A11 30 31
  • 69.95 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC4A11 31
  • 62 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc4a11 30
  • 69.65 (n)
Zebrafish
(Danio rerio)
 Actinopterygii slc4a11 30 31
  • 65.9 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea abts-3 30 31
  • 49.06 (n)
 OneToMany
abts-2 31
  • 36 (a)
 OneToMany
F52D10.1 32
  • 29 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BOR1 31
  • 21 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9446 31
  • 46 (a)
 OneToOne
Species where no ortholog for SLC4A11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC4A11: view image

Paralogs for SLC4A11 Gene

Paralogs for SLC4A11 Gene

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

Variants for SLC4A11 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC4A11 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
842384 Likely Pathogenic: not provided 3,228,836(-) AC/A
NM_001174089.2(SLC4A11):c.2192+1del 		SPLICE_DONOR
843673 Pathogenic: not provided 3,233,618(-) G/A
NM_001174089.2(SLC4A11):c.625C>T (p.Gln209Ter) 		NONSENSE,NON_CODING_TRANSCRIPT
846827 Pathogenic: not provided 3,237,656(-) TC/T
NM_001174089.2(SLC4A11):c.44-69del 		FRAMESHIFT_VARIANT,INTRON
854242 Likely Pathogenic: not provided 3,229,778(-) T/C
NM_001174089.2(SLC4A11):c.1490-2A>G 		SPLICE_ACCEPTOR
855486 Likely Pathogenic: not provided 3,228,837(-) C/T
NM_001174089.2(SLC4A11):c.2192+1G>A 		SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC4A11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SLC4A11 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SLC4A11 Gene

MalaCards: The human disease database

(25) MalaCards diseases for SLC4A11 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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:20185830, ECO:0000269 PubMed:21203343, ECO:0000269 PubMed:22072594, ECO:0000269 PubMed:26286922}. Note=The disease is caused by variants 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:22072594, ECO:0000269 PubMed:25007886}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC4A11

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

No data available for Genatlas for SLC4A11 Gene

Publications for SLC4A11 Gene

  1. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). (PMID: 16767101) Vithana EN … Aung T (Nature genetics 2006) 2 3 4 74
  2. Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. (PMID: 11302728) Parker MD … Tanner MJ (Biochemical and biophysical research communications 2001) 2 3 4 23
  3. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. (PMID: 19369245) Aldahmesh MA … Alkuraya FS (Investigative ophthalmology & visual science 2009) 3 4 23
  4. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. (PMID: 18024964) Vithana EN … Aung T (Human molecular genetics 2008) 3 4 74
  5. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. (PMID: 17220209) Desir J … Abramowicz MJ (Journal of medical genetics 2007) 3 4 74

ExternalLinks

View latest publications for SLC4A11 gene in Mastermind

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