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SLC4A4 (solute carrier family 4 member 4)

Identity

Alias_namesSLC4A5
solute carrier family 4, sodium bicarbonate cotransporter, member 4
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
Alias_symbol (synonym)NBC1
HNBC1
NBC2
pNBC
hhNMC
Other aliasKNBC
NBCe1-A
kNBC1
HGNC (Hugo) SLC4A4
LocusID (NCBI) 8671
Atlas_Id 43621
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 71187286 and ends at 71572087 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SLC4A4 (4q13.3) / GOLGA4 (3p22.2)SLC4A4 (4q13.3) / PIGU (20q11.22)SLC4A4 (4q13.3) / SLC4A4 (4q13.3)
SLC4A4 (4q13.3) / TMPRSS11E (4q13.2)SLC4A4 4q13.3 / GOLGA4 3p22.2SLC4A4 4q13.3 / TMPRSS11E 4q13.2

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)SLC4A4   11030
Cards
Entrez_Gene (NCBI)SLC4A4  8671  solute carrier family 4 member 4
AliasesHNBC1; KNBC; NBC1; NBC2; 
NBCe1-A; SLC4A5; hhNMC; kNBC1; pNBC
GeneCards (Weizmann)SLC4A4
Ensembl hg19 (Hinxton)ENSG00000080493 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000080493 [Gene_View]  chr4:71187286-71572087 [Contig_View]  SLC4A4 [Vega]
ICGC DataPortalENSG00000080493
TCGA cBioPortalSLC4A4
AceView (NCBI)SLC4A4
Genatlas (Paris)SLC4A4
WikiGenes8671
SOURCE (Princeton)SLC4A4
Genetics Home Reference (NIH)SLC4A4
Genomic and cartography
GoldenPath hg38 (UCSC)SLC4A4  -     chr4:71187286-71572087 +  4q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC4A4  -     4q13.3   [Description]    (hg19-Feb_2009)
EnsemblSLC4A4 - 4q13.3 [CytoView hg19]  SLC4A4 - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBISLC4A4 [Mapview hg19]  SLC4A4 [Mapview hg38]
OMIM603345   604278   
Gene and transcription
Genbank (Entrez)AA349118 AB470072 AF004813 AF007216 AF011390
RefSeq transcript (Entrez)NM_001098484 NM_001134742 NM_003759
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC4A4
Cluster EST : UnigeneHs.5462 [ NCBI ]
CGAP (NCI)Hs.5462
Alternative Splicing GalleryENSG00000080493
Gene ExpressionSLC4A4 [ NCBI-GEO ]   SLC4A4 [ EBI - ARRAY_EXPRESS ]   SLC4A4 [ SEEK ]   SLC4A4 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC4A4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8671
GTEX Portal (Tissue expression)SLC4A4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6R1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6R1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6R1
Splice isoforms : SwissVarQ9Y6R1
PhosPhoSitePlusQ9Y6R1
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)SLC4A4
DMDM Disease mutations8671
Blocks (Seattle)SLC4A4
SuperfamilyQ9Y6R1
Human Protein AtlasENSG00000080493
Peptide AtlasQ9Y6R1
HPRD04516
IPIIPI00410270   IPI00411338   IPI00658166   IPI00016949   IPI00913897   IPI00383807   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6R1
IntAct (EBI)Q9Y6R1
FunCoupENSG00000080493
BioGRIDSLC4A4
STRING (EMBL)SLC4A4
ZODIACSLC4A4
Ontologies - Pathways
QuickGOQ9Y6R1
Ontology : AmiGOinorganic anion exchanger activity  protein binding  plasma membrane  integral component of plasma membrane  transport  sodium ion transport  sodium:bicarbonate symporter activity  sodium:bicarbonate symporter activity  inorganic anion transport  bicarbonate transport  basolateral plasma membrane  sodium ion transmembrane transport  regulation of intracellular pH  extracellular exosome  anion transmembrane transport  
Ontology : EGO-EBIinorganic anion exchanger activity  protein binding  plasma membrane  integral component of plasma membrane  transport  sodium ion transport  sodium:bicarbonate symporter activity  sodium:bicarbonate symporter activity  inorganic anion transport  bicarbonate transport  basolateral plasma membrane  sodium ion transmembrane transport  regulation of intracellular pH  extracellular exosome  anion transmembrane transport  
Pathways : KEGGProximal tubule bicarbonate reclamation    Pancreatic secretion    Bile secretion   
NDEx NetworkSLC4A4
Atlas of Cancer Signalling NetworkSLC4A4
Wikipedia pathwaysSLC4A4
Orthology - Evolution
OrthoDB8671
GeneTree (enSembl)ENSG00000080493
Phylogenetic Trees/Animal Genes : TreeFamSLC4A4
HOVERGENQ9Y6R1
HOGENOMQ9Y6R1
Homologs : HomoloGeneSLC4A4
Homology/Alignments : Family Browser (UCSC)SLC4A4
Gene fusions - Rearrangements
Fusion : MitelmanSLC4A4/GOLGA4 [4q13.3/3p22.2]  
Fusion : MitelmanSLC4A4/TMPRSS11E [4q13.3/4q13.2]  [t(4;4)(q13;q13)]  
Fusion: TCGASLC4A4 4q13.3 GOLGA4 3p22.2 PRAD
Fusion: TCGASLC4A4 4q13.3 TMPRSS11E 4q13.2 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC4A4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC4A4
dbVarSLC4A4
ClinVarSLC4A4
1000_GenomesSLC4A4 
Exome Variant ServerSLC4A4
ExAC (Exome Aggregation Consortium)SLC4A4 (select the gene name)
Genetic variants : HAPMAP8671
Genomic Variants (DGV)SLC4A4 [DGVbeta]
DECIPHERSLC4A4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC4A4 
Mutations
ICGC Data PortalSLC4A4 
TCGA Data PortalSLC4A4 
Broad Tumor PortalSLC4A4
OASIS PortalSLC4A4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC4A4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC4A4
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 SLC4A4
DgiDB (Drug Gene Interaction Database)SLC4A4
DoCM (Curated mutations)SLC4A4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC4A4 (select a term)
intoGenSLC4A4
Cancer3DSLC4A4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603345    604278   
Orphanet12440   
MedgenSLC4A4
Genetic Testing Registry SLC4A4
NextProtQ9Y6R1 [Medical]
TSGene8671
GENETestsSLC4A4
Huge Navigator SLC4A4 [HugePedia]
snp3D : Map Gene to Disease8671
BioCentury BCIQSLC4A4
ClinGenSLC4A4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8671
Chemical/Pharm GKB GenePA35898
Clinical trialSLC4A4
Miscellaneous
canSAR (ICR)SLC4A4 (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC4A4
EVEXSLC4A4
GoPubMedSLC4A4
iHOPSLC4A4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:37:53 CEST 2017

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