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SLC4A5 (solute carrier family 4 member 5)

Identity

Alias_namessolute carrier family 4, sodium bicarbonate cotransporter, member 5
solute carrier family 4 (sodium bicarbonate cotransporter), member 5
Alias_symbol (synonym)NBC4
Other aliasNBCe2
HGNC (Hugo) SLC4A5
LocusID (NCBI) 57835
Atlas_Id 53769
Location 2p13.1  [Link to chromosome band 2p13]
Location_base_pair Starts at 74221434 and ends at 74315025 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DCTN1 (2p13.1) / SLC4A5 (2p13.1)NCL (2q37.1) / SLC4A5 (2p13.1)PSMC5 (17q23.3) / SLC4A5 (2p13.1)
SLC4A5 (2p13.1) / NCOR2 (12q24.31)SLC4A5 (2p13.1) / SLC4A5 (2p13.1)VPS37A (8p22) / SLC4A5 (2p13.1)
ZBED4 (22q13.33) / SLC4A5 (2p13.1)

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)SLC4A5   18168
Cards
Entrez_Gene (NCBI)SLC4A5  57835  solute carrier family 4 member 5
AliasesNBC4; NBCe2
GeneCards (Weizmann)SLC4A5
Ensembl hg19 (Hinxton)ENSG00000188687 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188687 [Gene_View]  chr2:74221434-74315025 [Contig_View]  SLC4A5 [Vega]
ICGC DataPortalENSG00000188687
TCGA cBioPortalSLC4A5
AceView (NCBI)SLC4A5
Genatlas (Paris)SLC4A5
WikiGenes57835
SOURCE (Princeton)SLC4A5
Genetics Home Reference (NIH)SLC4A5
Genomic and cartography
GoldenPath hg38 (UCSC)SLC4A5  -     chr2:74221434-74315025 -  2p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC4A5  -     2p13.1   [Description]    (hg19-Feb_2009)
EnsemblSLC4A5 - 2p13.1 [CytoView hg19]  SLC4A5 - 2p13.1 [CytoView hg38]
Mapping of homologs : NCBISLC4A5 [Mapview hg19]  SLC4A5 [Mapview hg38]
OMIM606757   
Gene and transcription
Genbank (Entrez)AB209752 AF243499 AF293337 AF293338 AF452248
RefSeq transcript (Entrez)NM_021196 NM_033323 NM_133478 NM_133479
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC4A5
Cluster EST : UnigeneHs.594099 [ NCBI ]
CGAP (NCI)Hs.594099
Alternative Splicing GalleryENSG00000188687
Gene ExpressionSLC4A5 [ NCBI-GEO ]   SLC4A5 [ EBI - ARRAY_EXPRESS ]   SLC4A5 [ SEEK ]   SLC4A5 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC4A5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57835
GTEX Portal (Tissue expression)SLC4A5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BY07   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BY07  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BY07
Splice isoforms : SwissVarQ9BY07
PhosPhoSitePlusQ9BY07
Domains : Interpro (EBI)Band3_cytoplasmic_dom    HCO3_transpt_C    HCO3_transpt_euk    Na/HCO3_transpt    PTrfase/Anion_transptr   
Domain families : Pfam (Sanger)Band_3_cyto (PF07565)    HCO3_cotransp (PF00955)   
Domain families : Pfam (NCBI)pfam07565    pfam00955   
Conserved Domain (NCBI)SLC4A5
DMDM Disease mutations57835
Blocks (Seattle)SLC4A5
SuperfamilyQ9BY07
Human Protein AtlasENSG00000188687
Peptide AtlasQ9BY07
HPRD08420
IPIIPI00218089   IPI00889759   IPI00107529   IPI00061148   IPI00889641   IPI00889661   IPI00655610   IPI00889761   IPI00980265   IPI00979010   IPI00978441   IPI00893393   
Protein Interaction databases
DIP (DOE-UCLA)Q9BY07
IntAct (EBI)Q9BY07
FunCoupENSG00000188687
BioGRIDSLC4A5
STRING (EMBL)SLC4A5
ZODIACSLC4A5
Ontologies - Pathways
QuickGOQ9BY07
Ontology : AmiGOepithelial cell development  renal system process  regulation of systemic arterial blood pressure  inorganic anion exchanger activity  plasma membrane  integral component of plasma membrane  anion transmembrane transporter activity  sodium:bicarbonate symporter activity  sodium:bicarbonate symporter activity  regulation of gene expression  anion:anion antiporter activity  inorganic anion transport  bicarbonate transport  bicarbonate transport  bicarbonate transport  integral component of membrane  apical plasma membrane  cerebrospinal fluid secretion  sodium ion transmembrane transport  mitochondrion distribution  regulation of intracellular pH  retina development in camera-type eye  anion transmembrane transport  
Ontology : EGO-EBIepithelial cell development  renal system process  regulation of systemic arterial blood pressure  inorganic anion exchanger activity  plasma membrane  integral component of plasma membrane  anion transmembrane transporter activity  sodium:bicarbonate symporter activity  sodium:bicarbonate symporter activity  regulation of gene expression  anion:anion antiporter activity  inorganic anion transport  bicarbonate transport  bicarbonate transport  bicarbonate transport  integral component of membrane  apical plasma membrane  cerebrospinal fluid secretion  sodium ion transmembrane transport  mitochondrion distribution  regulation of intracellular pH  retina development in camera-type eye  anion transmembrane transport  
Pathways : KEGGBile secretion   
NDEx NetworkSLC4A5
Atlas of Cancer Signalling NetworkSLC4A5
Wikipedia pathwaysSLC4A5
Orthology - Evolution
OrthoDB57835
GeneTree (enSembl)ENSG00000188687
Phylogenetic Trees/Animal Genes : TreeFamSLC4A5
HOVERGENQ9BY07
HOGENOMQ9BY07
Homologs : HomoloGeneSLC4A5
Homology/Alignments : Family Browser (UCSC)SLC4A5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC4A5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC4A5
dbVarSLC4A5
ClinVarSLC4A5
1000_GenomesSLC4A5 
Exome Variant ServerSLC4A5
ExAC (Exome Aggregation Consortium)SLC4A5 (select the gene name)
Genetic variants : HAPMAP57835
Genomic Variants (DGV)SLC4A5 [DGVbeta]
DECIPHERSLC4A5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC4A5 
Mutations
ICGC Data PortalSLC4A5 
TCGA Data PortalSLC4A5 
Broad Tumor PortalSLC4A5
OASIS PortalSLC4A5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC4A5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC4A5
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)LOVD - Leiden Open Variation Database
BioMutasearch SLC4A5
DgiDB (Drug Gene Interaction Database)SLC4A5
DoCM (Curated mutations)SLC4A5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC4A5 (select a term)
intoGenSLC4A5
Cancer3DSLC4A5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606757   
Orphanet
MedgenSLC4A5
Genetic Testing Registry SLC4A5
NextProtQ9BY07 [Medical]
TSGene57835
GENETestsSLC4A5
Target ValidationSLC4A5
Huge Navigator SLC4A5 [HugePedia]
snp3D : Map Gene to Disease57835
BioCentury BCIQSLC4A5
ClinGenSLC4A5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57835
Chemical/Pharm GKB GenePA164742397
Clinical trialSLC4A5
Miscellaneous
canSAR (ICR)SLC4A5 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC4A5
EVEXSLC4A5
GoPubMedSLC4A5
iHOPSLC4A5
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 : Tue Aug 1 17:14:56 CEST 2017

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