Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC4A2 (solute carrier family 4 member 2)

Identity

Alias_namesEPB3L1
AE2
erythrocyte membrane protein band 3-like 1
solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
solute carrier family 4 (anion exchanger), member 2
Alias_symbol (synonym)HKB3
BND3L
NBND3
Other alias
HGNC (Hugo) SLC4A2
LocusID (NCBI) 6522
Atlas_Id 43994
Location 7q36.1  [Link to chromosome band 7q36]
Location_base_pair Starts at 150755299 and ends at 150773614 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC64 (12q24.23) / SLC4A2 (7q36.1)CD44 (11p13) / SLC4A2 (7q36.1)SLC4A2 (7q36.1) / RPL7 (8q21.11)
SLC4A2 (7q36.1) / SLC4A2 (7q36.1)STK17B (2q32.3) / SLC4A2 (7q36.1)

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)SLC4A2   11028
Cards
Entrez_Gene (NCBI)SLC4A2  6522  solute carrier family 4 member 2
AliasesAE2; BND3L; EPB3L1; HKB3; 
NBND3
GeneCards (Weizmann)SLC4A2
Ensembl hg19 (Hinxton)ENSG00000164889 [Gene_View]  chr7:150755299-150773614 [Contig_View]  SLC4A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164889 [Gene_View]  chr7:150755299-150773614 [Contig_View]  SLC4A2 [Vega]
ICGC DataPortalENSG00000164889
TCGA cBioPortalSLC4A2
AceView (NCBI)SLC4A2
Genatlas (Paris)SLC4A2
WikiGenes6522
SOURCE (Princeton)SLC4A2
Genetics Home Reference (NIH)SLC4A2
Genomic and cartography
GoldenPath hg19 (UCSC)SLC4A2  -     chr7:150755299-150773614 +  7q36.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC4A2  -     7q36.1   [Description]    (hg38-Dec_2013)
EnsemblSLC4A2 - 7q36.1 [CytoView hg19]  SLC4A2 - 7q36.1 [CytoView hg38]
Mapping of homologs : NCBISLC4A2 [Mapview hg19]  SLC4A2 [Mapview hg38]
OMIM109280   
Gene and transcription
Genbank (Entrez)AB209158 AK295767 AK296065 AK312699 AY927498
RefSeq transcript (Entrez)NM_001199692 NM_001199693 NM_001199694 NM_003040
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929333
Consensus coding sequences : CCDS (NCBI)SLC4A2
Cluster EST : UnigeneHs.647069 [ NCBI ]
CGAP (NCI)Hs.647069
Alternative Splicing GalleryENSG00000164889
Gene ExpressionSLC4A2 [ NCBI-GEO ]   SLC4A2 [ EBI - ARRAY_EXPRESS ]   SLC4A2 [ SEEK ]   SLC4A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC4A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6522
GTEX Portal (Tissue expression)SLC4A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04920   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04920  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04920
Splice isoforms : SwissVarP04920
PhosPhoSitePlusP04920
Domaine pattern : Prosite (Expaxy)ANION_EXCHANGER_1 (PS00219)    ANION_EXCHANGER_2 (PS00220)   
Domains : Interpro (EBI)Anion_exchange    Anion_exchange_2    Anion_exchange_CS    Band3_cytoplasmic_dom    HCO3_transpt_C    HCO3_transpt_euk    PTrfase/Anion_transptr   
Domain families : Pfam (Sanger)Band_3_cyto (PF07565)    HCO3_cotransp (PF00955)   
Domain families : Pfam (NCBI)pfam07565    pfam00955   
Conserved Domain (NCBI)SLC4A2
DMDM Disease mutations6522
Blocks (Seattle)SLC4A2
SuperfamilyP04920
Human Protein AtlasENSG00000164889
Peptide AtlasP04920
HPRD02728
IPIIPI00383597   IPI00477139   IPI01014152   IPI00946699   IPI00945480   IPI00945972   IPI00947464   IPI00945140   IPI00945012   
Protein Interaction databases
DIP (DOE-UCLA)P04920
IntAct (EBI)P04920
FunCoupENSG00000164889
BioGRIDSLC4A2
STRING (EMBL)SLC4A2
ZODIACSLC4A2
Ontologies - Pathways
QuickGOP04920
Ontology : AmiGOinorganic anion exchanger activity  plasma membrane  integral component of plasma membrane  focal adhesion  anion transport  spermatogenesis  anion transmembrane transporter activity  bicarbonate transport  membrane  basolateral plasma membrane  apical plasma membrane  enzyme binding  digestive tract development  regulation of intracellular pH  chloride transmembrane transport  
Ontology : EGO-EBIinorganic anion exchanger activity  plasma membrane  integral component of plasma membrane  focal adhesion  anion transport  spermatogenesis  anion transmembrane transporter activity  bicarbonate transport  membrane  basolateral plasma membrane  apical plasma membrane  enzyme binding  digestive tract development  regulation of intracellular pH  chloride transmembrane transport  
Pathways : KEGGSalivary secretion    Gastric acid secretion    Pancreatic secretion    Bile secretion   
NDEx NetworkSLC4A2
Atlas of Cancer Signalling NetworkSLC4A2
Wikipedia pathwaysSLC4A2
Orthology - Evolution
OrthoDB6522
GeneTree (enSembl)ENSG00000164889
Phylogenetic Trees/Animal Genes : TreeFamSLC4A2
HOVERGENP04920
HOGENOMP04920
Homologs : HomoloGeneSLC4A2
Homology/Alignments : Family Browser (UCSC)SLC4A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC4A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC4A2
dbVarSLC4A2
ClinVarSLC4A2
1000_GenomesSLC4A2 
Exome Variant ServerSLC4A2
ExAC (Exome Aggregation Consortium)SLC4A2 (select the gene name)
Genetic variants : HAPMAP6522
Genomic Variants (DGV)SLC4A2 [DGVbeta]
DECIPHER (Syndromes)7:150755299-150773614  ENSG00000164889
CONAN: Copy Number AnalysisSLC4A2 
Mutations
ICGC Data PortalSLC4A2 
TCGA Data PortalSLC4A2 
Broad Tumor PortalSLC4A2
OASIS PortalSLC4A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC4A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC4A2
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
BioMutasearch SLC4A2
DgiDB (Drug Gene Interaction Database)SLC4A2
DoCM (Curated mutations)SLC4A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC4A2 (select a term)
intoGenSLC4A2
Cancer3DSLC4A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM109280   
Orphanet
MedgenSLC4A2
Genetic Testing Registry SLC4A2
NextProtP04920 [Medical]
TSGene6522
GENETestsSLC4A2
Huge Navigator SLC4A2 [HugePedia]
snp3D : Map Gene to Disease6522
BioCentury BCIQSLC4A2
ClinGenSLC4A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6522
Chemical/Pharm GKB GenePA35896
Clinical trialSLC4A2
Miscellaneous
canSAR (ICR)SLC4A2 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC4A2
EVEXSLC4A2
GoPubMedSLC4A2
iHOPSLC4A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:27:59 CET 2017

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