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
External Ids for SLC4A11 Gene
- HGNC: 16438
- Entrez Gene: 83959
- Ensembl: ENSG00000088836
- OMIM: 610206
- UniProtKB: Q8NBS3
Previous HGNC Symbols for SLC4A11 Gene
- CHED2
- CDPD1
Previous GeneCards Identifiers for SLC4A11 Gene
- GC20M003196
- GC20M003156
Summaries 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 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.
Additional gene information for SLC4A11 Gene
- Monarch Initiative
- Search for SLC4A11 at DataMed
- Search for SLC4A11 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A11 Gene
Genomics for SLC4A11 Gene
GeneHancer (GH) Regulatory Elements for SLC4A11 Gene
Promoters and enhancers for SLC4A11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SLC4A11 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SLC4A11 Gene
Genomic Locations for SLC4A11 Gene
- chr20:3,227,417-3,241,482
- (GRCh38/hg38)
- Size:
- 14,066 bases
- Orientation:
- Minus strand
- chr20:3,208,063-3,219,887
- (GRCh37/hg19)
Genomic View for SLC4A11 Gene
Genes around SLC4A11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p13 by Ensembl
- 20p13 by Entrez Gene
- 20p13 by HGNC
SLC4A11 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for SLC4A11 Gene
Post-translational modifications for SLC4A11 Gene
- Glycosylated.
- Glycosylation at posLast=545545 and posLast=553553
- Modification sites at PhosphoSitePlus
Other Protein References for SLC4A11 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLC4A11
-
Abcam antibodies for SLC4A11
- Invitrogen Antibodies for SLC4A11
- Search GeneTex for Antibodies for SLC4A11
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLC4A11
- Origene Custom Protein Services for SLC4A11
- Novus Biologicals proteins for SLC4A11
- Search GeneTex for Proteins for SLC4A11
Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
Q8NBS3- Family:
-
- Belongs to the anion exchanger (TC 2.A.31) family.
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.
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for SLC4A11 Gene
- MGI mutant phenotypes for SLC4A11:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SLC4A11:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Negative genetic interaction between PTEN-/- and PTEN+/+
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC4A11
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC4A11 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC4A11 gene
- Search ViGene Biosciences for SLC4A11
CRISPR Products
-
OriGene CRISPR knockouts for SLC4A11
- genomics-online: gRNA clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
- Applied Biological Materials CRISPR for SLC4A11
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC4A11
- GenScript: Design CRISPR guide RNA sequences for SLC4A11
miRNA Products
- Search ViGene Biosciences for SLC4A11
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC4A11
- Browse OriGene Inhibitory RNA Products For SLC4A11
- genomics-online: shRNA clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC4A11 gene
Clone Products
-
OriGene ORF clones in human for SLC4A11
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC4A11
- VectorBuilder custom plasmid, inducible vectors for SLC4A11
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC4A11
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SLC4A11
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SLC4A11
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC4A11 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC4A11 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC4A11 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Nucleoplasm (1)
- Vesicles (1)
| 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 |
Pathways & Interactions for SLC4A11 Gene
No Data Available
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for SLC4A11 Gene
Drugs & Compounds for SLC4A11 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Boron | Approved | Pharma | 20 |
Transcripts for SLC4A11 Gene
mRNA/cDNA for SLC4A11 Gene
- (13) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (45) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC4A11 Gene
- Solute carrier family 4, sodium borate transporter, member 11:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SLC4A11
- genomics-online: gRNA clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
- Applied Biological Materials CRISPR for SLC4A11
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC4A11
- GenScript: Design CRISPR guide RNA sequences for SLC4A11
miRNA Products
- Search ViGene Biosciences for SLC4A11
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC4A11
- Browse OriGene Inhibitory RNA Products For SLC4A11
- genomics-online: shRNA clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC4A11 gene
Clone Products
-
OriGene ORF clones in human for SLC4A11
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC4A11
- VectorBuilder custom plasmid, inducible vectors for SLC4A11
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC4A11
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SLC4A11
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for SLC4A11 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Eye (Sensory Organs)
- Mature Endothelial Cells Corneal Endothelium
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Corneal Endothelium
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Blood (Hematopoietic System)
-
Ovary (Reproductive System)
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:
SLC4A11SOURCE GeneReport for Unigene cluster for SLC4A11 Gene:
Hs.105607mRNA 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(4.4)
- Nervous system(4.1)
- Eye(2.7)
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
Primer Products
-
OriGene qPCR primer pairs for SLC4A11
- genomics-online: primer clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC4A11 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Slc4a11 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc4a11 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC4A11 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC4A11 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC4A11 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC4A11 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC4A11 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc4a11 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc4a11 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | abts-3 33 34 |
|
||
| abts-2 34 |
|
OneToMany | |||
| F52D10.1 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BOR1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9446 34 |
|
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)
Paralogs for SLC4A11 Gene
Variants for SLC4A11 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10048856 | likely-benign, Corneal Dystrophy, Recessive | 3,228,711(-) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs121909387 | pathogenic, Corneal endothelial dystrophy, Corneal endothelial dystrophy (CHED) [MIM:217700] | 3,228,684(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs121909388 | pathogenic, Corneal endothelial dystrophy, Corneal endothelial dystrophy (CHED) [MIM:217700] | 3,230,258(-) | G/A | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs121909389 | pathogenic, Corneal endothelial dystrophy, Corneal endothelial dystrophy (CHED) [MIM:217700] | 3,230,587(-) | C/T | 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs121909390 | pathogenic, Corneal endothelial dystrophy | 3,229,430(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained, synonymous_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A11 Gene
Disorders for SLC4A11 Gene
(14) MalaCards diseases for SLC4A11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corneal dystrophy and perceptive deafness |
|
|
| corneal endothelial dystrophy |
|
|
| corneal dystrophy, fuchs endothelial, 4 |
|
|
| corneal endothelial dystrophy type 2 |
|
|
| fuchs' endothelial dystrophy |
|
|
Search SLC4A11 in MalaCards
View complete list of genes associated with diseases
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:22072594, 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:20185830, ECO:0000269 PubMed:21203343, ECO:0000269 PubMed:22072594, ECO:0000269 PubMed:26286922}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC4A11
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SLC4A11 Gene
Publications for SLC4A11 Gene
- 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 22 58
- Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. (PMID: 19369245) Aldahmesh MA … Alkuraya FS (Investigative ophthalmology & visual science 2009) 3 4 22 58
- Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. (PMID: 17679935) Sultana A … Kannabiran C (Molecular vision 2007) 3 4 22 58
- 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 58
- Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). (PMID: 26286922) Kaul H … Idrees S (Clinical & experimental optometry 2016) 3 4 58
Products for SLC4A11 Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
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- Browse OriGene ELISA Kits
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLC4A11
- Origene Custom Protein Services for SLC4A11
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC4A11
- Browse OriGene Inhibitory RNA Products For SLC4A11
- OriGene qPCR primer pairs for SLC4A11
- OriGene CRISPR knockouts for SLC4A11
- OriGene ORF clones in human for SLC4A11
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC4A11
- GenScript: Next-day shipping of latest version cDNA ORF clones for SLC4A11 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SLC4A11
- GenScript Custom Assay Services for SLC4A11
- GenScript Custom overexpressing Cell Line Services for SLC4A11
- GenScript: Design CRISPR guide RNA sequences for SLC4A11
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SLC4A11
- Sino Biological Human cDNA Clone for SLC4A11
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- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SLC4A11
- Novus Biologicals proteins for SLC4A11
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for SLC4A11
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- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC4A11
- VectorBuilder custom plasmid, inducible vectors for SLC4A11
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC4A11
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 21 available SLC4A11 Antibodies ranked by validation data
- Compare Top SLC4A11 Antibodies
- antibodies-online: Search results for available SLC4A11 related products ranked by validation data
- antibodies-online: Search results for 3 available SLC4A11 Proteins ranked by validation data
- Compare Top SLC4A11 Proteins
- Search GeneTex for Antibodies for SLC4A11
- Search GeneTex for Proteins for SLC4A11
- ViGene Biosciences adenoviral particle packaged cDNA for SLC4A11 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SLC4A11 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SLC4A11 gene
- Search ViGene Biosciences for SLC4A11
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for SLC4A11 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SLC4A11
- Horizon Cell Lines for SLC4A11
- genomics-online: cdna clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
- orf clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
- genomics-online: gRNA clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
- genomics-online: primer clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
- genomics-online: shRNA clones - Search results for 94 available SLC4A11 gene related products
- Overview of 94 available SLC4A11 gene related products
Sources for SLC4A11 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
