SLC4A11 Gene
protein-coding GIFtS: 54
GCID: GC20M003203
|
|
solute carrier family 4, sodium borate transporter, member...(Previous names: corneal endothelial dystrophy 2 (autosomal recessive),...)
(Previous symbols: CHED2, CDPD1)
| |
Aliases
for SLC4A11 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Solute Carrier Family 4, Sodium Borate Transporter, Member 111 2 | | Corneal Endothelial Dystrophy 2 (Autosomal Recessive)1 | | BTR11 2 3 5 | | Bicarbonate Transporter Related Protein 12 | | CHED21 2 5 | | Sodium Bicarbonate Transporter-Like Protein 112 | | CDPD11 2 | | Sodium-Coupled Borate Cotransporter 12 | | DJ794I6.21 | | Bicarbonate Transporter-Related Protein 13 | | Solute Carrier Family 4, Sodium Bicarbonate Transporter-Like, Member 111 2 | | Sodium Borate Cotransporter 13 | | NaBC11 3 | | Solute Carrier Family 4 Member 113 | | NABC12 5 | | CDPD5 | | Corneal Dystrophy And Perceptive Deafness 11 | | FECD45 |
Export aliases for SLC4A11 gene to outside databasesPrevious GC identifers: GC20M003196 GC20M003156 |
Summaries
for SLC4A11 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SLC4A11:
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for boratehomeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number ofendothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptivedeafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have beendescribed. (provided by RefSeq, Mar 2010)
UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3Function: Transporter which plays an important role in sodium-mediated fluid transport in different organs. Preventssevere morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In theinner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essentialfor 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 Henleloop 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 anelectrogenic Na(+) coupled borate cotransporter
Gene Wiki entry for SLC4A11
|
Genomic Views
for SLC4A11 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011387.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SLC4A11 gene promoter:
c-Fos p53 GCNF MyoD XBP-1 GCNF-1 FOXJ2 (long isoform) SEF-1 (1) FOXJ2 GCNF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC4A11
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC4A11 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p12 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13SLC4A11 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M003203: view genomic region
(about GC identifiers)
Start:
|
3,208,063 bp from pter |
End:
|
3,219,887 bp from pter |
Size:
|
11,825 bases |
Orientation:
|
minus strand |
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Proteins
for SLC4A11 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3 (See
protein sequence)Recommended Name: Sodium bicarbonate transporter-like protein 11 Size: 891 amino acids; 99581 Da
Subunit: Homodimer
Subcellular location: Cell membrane. Membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAC11536.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;Sequence=CAB90170.4; Type=Erroneous gene model prediction; Sequence=CAD55942.1; Type=Erroneous gene model prediction;
Secondary accessions: B4DKX9 G3V1M3 Q2TB62 Q2TB63 Q9BXF4 Q9NTW9Alternative splicing: 3 isoforms: Q8NBS3-1 Q8NBS3-2 Q8NBS3-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SLC4A11: NX_Q8NBS3
Post-translational modifications:
Glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NBS3
SLC4A11 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001167560.1 NP_001167561.1 NP_114423.1
ENSEMBL proteins: ENSP00000369399 ENSP00000369396 ENSP00000404271 ENSP00000441370
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
SLC4A11 for ontologies About GeneDecksing
SLC4A11 Antibody Products:
Assay Products for SLC4A11: |
Protein
Domains /
Families
for SLC4A11 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC4A11 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8NBS3ProtoNet protein and cluster: Q8NBS3 UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3Similarity: Belongs to the anion exchanger (TC 2.A.31) family |
Function
for SLC4A11 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3Function: Transporter which plays an important role in sodium-mediated fluid transport in different organs. Preventssevere morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In theinner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essentialfor 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 Henleloop 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 anelectrogenic Na(+) coupled borate cotransporter
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC4A11 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC4A11 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): SLC4A11 (NM_032034) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC4A11 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC4A11 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A11 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
SLC4A11 for ontologies About GeneDecksing
Animal Models:
5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Slc4a11):
SLC4A11 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SLC4A11 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Sodium-coupled transporters and pumps | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for SLC4A11
SLC4A11 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC4A11
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for SLC4A11 (ENSP000003693964) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
SLC4A11 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC4A11 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SLC4A11
1 HMDB Compound for SLC4A11 About this table
Search CenterWatch for drugs/clinical trials and news about SLC4A11 / S4A11
|
Transcripts
for SLC4A11 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SLC4A11 gene (3 alternative transcripts): NM_001174089.1 NM_001174090.1 NM_032034.3 Unigene Cluster for SLC4A11: Solute carrier family 4, sodium borate transporter, member 11 Hs.105607 [show with all ESTs]Unigene Representative Sequence: NM_0011740907 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000380059(uc010zqe.2) ENST00000380056(uc002wig.3) ENST00000474451(uc002wih.3)
ENST00000488544 ENST00000470631 ENST00000437836 ENST00000539553(uc010zqf.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC4A11 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC4A11 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): SLC4A11 (NM_032034) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC4A11 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC4A11 |
Additional cDNA sequence: AF336127.1 AK075303.1 AK091157.1 AK296508.1 AK296760.1 BC110540.1 8 DOTS entries: DT.102836296 DT.403667 DT.100677098 DT.75143176 DT.97835503 DT.120825703 DT.92045031 DT.40131008 24/45 AceView cDNA sequences (see all 45): AW009943 AW088579 BM702068 BM854790 AL557116 CK430233 AK075303 NM_032034 AF336127 CB305941 CK431147 CD633533 AI659089 BX389887 CD633549 AK091157 AX746815 BM666654 BG769528 CD723687 CD723953 CD633529 CD633550 AI343244
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A11 (see all 7) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 20 | ^ | 21 | ^ | 22a | · | 22b |
|---|
|
| SP1: | | | | | | | | | |
| SP2: | | | | | | | | | |
| SP3: | | | | | | | | | |
| SP4: | | | | | | | | | |
| SP5: | | | | | | | | |
ECgene alternative splicing isoforms for SLC4A11
|
Expression
for SLC4A11 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SLC4A11 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGACTCAG
About this image
See SLC4A11 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC4A11
SOURCE GeneReport for Unigene cluster: Hs.105607
UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3Tissue specificity: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and cornealendothelium. Not detected in retina and lymphocytes
SABiosciences Custom PCR Arrays for SLC4A11
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC4A11
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A11 |
Orthologs
for SLC4A11 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SLC4A11 gene from 5/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SLC4A111 |
solute carrier family 4, sodium borate transporter, more |
69.95(n)
77.16(a) |
|
422943 XM_420881.3 XP_420881.3 |
lizard
(Anolis carolinensis) |
Reptilia |
SLC4A116 |
-- |
62(a) |
1 ↔ 1 |
GL343301.1(1355026-1433299) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BJ039327.12 |
-- |
79.91(n) |
|
BJ039327.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
slc4a111 |
solute carrier family 4, sodium borate transporter, more |
65.86(n)
62.58(a) |
|
559346 NM_001159828.1 NP_001153300.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
F52D10.13
abts-31 |
anion exchange protein3
Protein ABTS-31 |
29(a)3
49.19(n)1
44.43(a)1 |
|
X(11620906-11624884)3
1740241 NM_062827.31 NP_495228.11 |
ENSEMBL Gene Tree for SLC4A11 (if available)
TreeFam Gene Tree for SLC4A11 (if available) |
Paralogs
for SLC4A11 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SLC4A11 gene
- SLC4A42 SLC4A102 SLC4A72 SLC4A12 SLC4A52 SLC4A82 SLC4A22 SLC4A92
- SLC4A32
SLC4A11 for paralogs About GeneDecksing
|
Genomic Variants
for SLC4A11 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC4A11 (3208063 - 3219887 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SLC4A11
1 CNV: 5121
Human Gene Mutation Database (HGMD): SLC4A11
Locus Specific Mutation Databases (LSDB): SLC4A11
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC4A11 |
|
Disorders
/ Diseases
for SLC4A11 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SLC4A11 for disorders About GeneDecksing
OMIM gene information: 610206
OMIM disorders: 217700 217400 613268
UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3
Defects in SLC4A11 are the cause of corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]; also knownas corneal dystrophy and sensorineural deafness or Harboyan syndrome. CDPD consists of congenital corneal endothelialdystrophy and progressive perceptive deafness. Inheritance is autosomal recessive Defects in SLC4A11 are the cause of corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]; also known ascongenital hereditary endothelial dystrophy of cornea. This bilateral corneal dystrophy is characterized by cornealopacification and nystagmus. Inheritance is autosomal recessive Defects in SLC4A11 are the cause of corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]; alsoknown as Corneal dystrophy Fuchs endothelial late-onset. It is an ocular disorder caused by loss of endothelium of thecentral cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in thecentral cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenousdeposition
12  diseases for SLC4A11: About MalaCardscorneal dystrophy and perceptive deafness corneal dystrophy corneal endothelial dystrophy 2, autosomal recessive corneal dystrophy, fuchs endothelial, 4
corneal endothelial dystrophy and perceptive deafness congenital hereditary endothelial dystrophy of cornea corneal endothelial dystrophy type 2 corneal edema
nystagmus thyroiditis neuronitis posterior polymorphous corneal dystrophy
2 diseases from the University of Copenhagen DISEASES database for SLC4A11:Corneal dystrophy Corneal edema Human Genome Epidemiology (HuGE) Navigator: SLC4A11 (1 document)
Export disorders for SLC4A11 gene to outside databases
|
Publications
for SLC4A11 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SLC4A11 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with SLC4A11) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. (PubMed id 11302728)1, 2, 3, 9 Parker M.D.... Tanner M.J.A. (2001)
- Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). (PubMed id 16767101)1, 2, 3 Vithana E.N.... Aung T. (2006)
- Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. (PubMed id 17679935)1, 2, 9 Sultana A....Kannabiran C. (2007)
- Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. (PubMed id 19369245)1, 2, 9 Aldahmesh M.A....Alkuraya F.S. (2009)
- Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. (PubMed id 22072594)1, 2 Vilas G.L....Casey J. (2012)
- Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. (PubMed id 21203343)1, 2 Paliwal P.... Vajpayee R.B. (2010)
- Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya. (PubMed id 20848555)1, 2 Riazuddin S.A....Katsanis N. (2010)
- Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. (PubMed id 18474783)1, 2 Hemadevi B....Sundaresan P. (2008)
- SLC4A11 mutations in Fuchs endothelial corneal dystrophy. (PubMed id 18024964)1, 2 Vithana E.N.... Aung T. (2008)
- Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. (PubMed id 17220209)1, 2 Desir J.... Abramowicz M.J. (2007)
|
External Searches for SLC4A11 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing SLC4A11 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SLC4A11 gene
(According to HUGE)
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Specialized Databases showing SLC4A11 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for SLC4A11 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for SLC4A11 gene:
Search GeneIP for patents involving SLC4A11
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SLC4A11 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SLC4A11 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC4A11 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC4A11 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SLC4A11 | | OriGene 3'-UTR Clone for SLC4A11 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC4A11 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC4A11 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SLC4A11 | | OriGene Custom Protein Services for SLC4A11 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC4A11 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC4A11 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC4A11 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC4A11 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC4A11 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC4A11 |
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| | | | Search Tocris compounds for SLC4A11 |
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 | | | SLC4A11 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A11 |
|  |  |  | | | | ThermoFisher Antibodies for SLC4A11 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC4A11 |
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