Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC4A11 (solute carrier family 4 member 11)

Identity

Alias_namesCHED2
CDPD1
corneal endothelial dystrophy 2 (autosomal recessive)
solute carrier family 4, sodium bicarbonate transporter-like, member 11
corneal dystrophy and perceptive deafness 1
solute carrier family 4, sodium borate transporter, member 11
Alias_symbol (synonym)dJ794I6.2
BTR1
NaBC1
FECD4
Other aliasCHED
NABC1
HGNC (Hugo) SLC4A11
LocusID (NCBI) 83959
Atlas_Id 73452
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 3227417 and ends at 3239241 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC4A11   16438
Cards
Entrez_Gene (NCBI)SLC4A11  83959  solute carrier family 4 member 11
AliasesBTR1; CDPD1; CHED; CHED2; 
NABC1; dJ794I6.2
GeneCards (Weizmann)SLC4A11
Ensembl hg19 (Hinxton)ENSG00000088836 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000088836 [Gene_View]  chr20:3227417-3239241 [Contig_View]  SLC4A11 [Vega]
ICGC DataPortalENSG00000088836
TCGA cBioPortalSLC4A11
AceView (NCBI)SLC4A11
Genatlas (Paris)SLC4A11
WikiGenes83959
SOURCE (Princeton)SLC4A11
Genetics Home Reference (NIH)SLC4A11
Genomic and cartography
GoldenPath hg38 (UCSC)SLC4A11  -     chr20:3227417-3239241 -  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC4A11  -     20p13   [Description]    (hg19-Feb_2009)
EnsemblSLC4A11 - 20p13 [CytoView hg19]  SLC4A11 - 20p13 [CytoView hg38]
Mapping of homologs : NCBISLC4A11 [Mapview hg19]  SLC4A11 [Mapview hg38]
OMIM217400   217700   610206   613268   
Gene and transcription
Genbank (Entrez)AF336127 AK075303 AK091157 AK296508 AK296760
RefSeq transcript (Entrez)NM_001174089 NM_001174090 NM_032034
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC4A11
Cluster EST : UnigeneHs.105607 [ NCBI ]
CGAP (NCI)Hs.105607
Alternative Splicing GalleryENSG00000088836
Gene ExpressionSLC4A11 [ NCBI-GEO ]   SLC4A11 [ EBI - ARRAY_EXPRESS ]   SLC4A11 [ SEEK ]   SLC4A11 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC4A11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83959
GTEX Portal (Tissue expression)SLC4A11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NBS3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NBS3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NBS3
Splice isoforms : SwissVarQ8NBS3
PhosPhoSitePlusQ8NBS3
Domains : Interpro (EBI)HCO3_transpt_C    HCO3_transpt_euk    PTrfase/Anion_transptr    PTS_EIIA_type-2_dom   
Domain families : Pfam (Sanger)HCO3_cotransp (PF00955)   
Domain families : Pfam (NCBI)pfam00955   
Conserved Domain (NCBI)SLC4A11
DMDM Disease mutations83959
Blocks (Seattle)SLC4A11
SuperfamilyQ8NBS3
Human Protein AtlasENSG00000088836
Peptide AtlasQ8NBS3
HPRD15392
IPIIPI00015488   IPI00639817   IPI00647652   
Protein Interaction databases
DIP (DOE-UCLA)Q8NBS3
IntAct (EBI)Q8NBS3
FunCoupENSG00000088836
BioGRIDSLC4A11
STRING (EMBL)SLC4A11
ZODIACSLC4A11
Ontologies - Pathways
QuickGOQ8NBS3
Ontology : AmiGOsodium channel activity  inorganic anion exchanger activity  integral component of plasma membrane  sodium ion transport  bicarbonate transmembrane transporter activity  hydrogen ion channel activity  symporter activity  anion:anion antiporter activity  bicarbonate transport  proton transport  basolateral plasma membrane  cellular cation homeostasis  borate transmembrane transport  sodium ion transmembrane transport  fluid transport  borate transport  borate transmembrane transporter activity  protein dimerization activity  regulation of intracellular pH  
Ontology : EGO-EBIsodium channel activity  inorganic anion exchanger activity  integral component of plasma membrane  sodium ion transport  bicarbonate transmembrane transporter activity  hydrogen ion channel activity  symporter activity  anion:anion antiporter activity  bicarbonate transport  proton transport  basolateral plasma membrane  cellular cation homeostasis  borate transmembrane transport  sodium ion transmembrane transport  fluid transport  borate transport  borate transmembrane transporter activity  protein dimerization activity  regulation of intracellular pH  
NDEx NetworkSLC4A11
Atlas of Cancer Signalling NetworkSLC4A11
Wikipedia pathwaysSLC4A11
Orthology - Evolution
OrthoDB83959
GeneTree (enSembl)ENSG00000088836
Phylogenetic Trees/Animal Genes : TreeFamSLC4A11
HOVERGENQ8NBS3
HOGENOMQ8NBS3
Homologs : HomoloGeneSLC4A11
Homology/Alignments : Family Browser (UCSC)SLC4A11
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC4A11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC4A11
dbVarSLC4A11
ClinVarSLC4A11
1000_GenomesSLC4A11 
Exome Variant ServerSLC4A11
ExAC (Exome Aggregation Consortium)SLC4A11 (select the gene name)
Genetic variants : HAPMAP83959
Genomic Variants (DGV)SLC4A11 [DGVbeta]
DECIPHERSLC4A11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC4A11 
Mutations
ICGC Data PortalSLC4A11 
TCGA Data PortalSLC4A11 
Broad Tumor PortalSLC4A11
OASIS PortalSLC4A11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC4A11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC4A11
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch SLC4A11
DgiDB (Drug Gene Interaction Database)SLC4A11
DoCM (Curated mutations)SLC4A11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC4A11 (select a term)
intoGenSLC4A11
Cancer3DSLC4A11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM217400    217700    610206    613268   
Orphanet1663    20862    13991   
MedgenSLC4A11
Genetic Testing Registry SLC4A11
NextProtQ8NBS3 [Medical]
TSGene83959
GENETestsSLC4A11
Target ValidationSLC4A11
Huge Navigator SLC4A11 [HugePedia]
snp3D : Map Gene to Disease83959
BioCentury BCIQSLC4A11
ClinGenSLC4A11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83959
Chemical/Pharm GKB GenePA38139
Clinical trialSLC4A11
Miscellaneous
canSAR (ICR)SLC4A11 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC4A11
EVEXSLC4A11
GoPubMedSLC4A11
iHOPSLC4A11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:41:22 CEST 2017

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