Atlas of Genetics and Cytogenetics in Oncology and Haematology


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IGHA2 (immunoglobulin heavy constant alpha 2 (A2m marker))

Identity

Other alias-
HGNC (Hugo) IGHA2
LocusID (NCBI) 3494
Atlas_Id 53244
Location 14_KI270846v1_alt  [Link to chromosome band 14]
Location_base_pair Starts at 55247 and ends at 703007 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FOXP1 (3p13) / IGHA2 (14q32.33)IGHA2 (14q32.33) / ETV6 (12p13.2)IGHA2 (14q32.33) / NOL4 (18q12.1)
IGKC (2p11.2) / IGHA2 (14q32.33)ZFP36L1 (14q24.1) / IGHA2 (14q32.33)
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


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(X;14)(p11.4;q32.33) IGH/GPR34


External links

Nomenclature
HGNC (Hugo)IGHA2   5479
Cards
Entrez_Gene (NCBI)IGHA2  3494  immunoglobulin heavy constant alpha 2 (A2m marker)
Aliases
GeneCards (Weizmann)IGHA2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr14_KI270846v1_alt:55247-703007 [Contig_View]  IGHA2 [Vega]
TCGA cBioPortalIGHA2
AceView (NCBI)IGHA2
Genatlas (Paris)IGHA2
WikiGenes3494
SOURCE (Princeton)IGHA2
Genetics Home Reference (NIH)IGHA2
Genomic and cartography
GoldenPath hg38 (UCSC)IGHA2  -     chr14_KI270846v1_alt:55247-703007 -  14_KI270846v1_alt   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IGHA2  -     14_KI270846v1_alt   [Description]    (hg19-Feb_2009)
EnsemblIGHA2 - 14_KI270846v1_alt [CytoView hg19]  IGHA2 - 14_KI270846v1_alt [CytoView hg38]
Mapping of homologs : NCBIIGHA2 [Mapview hg19]  IGHA2 [Mapview hg38]
OMIM147000   
Gene and transcription
Genbank (Entrez)AL389978 BC073765 BX538077 BX640625 BX640710
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_001019 NT_187600
Consensus coding sequences : CCDS (NCBI)IGHA2
Cluster EST : UnigeneHs.699841 [ NCBI ]
CGAP (NCI)Hs.699841
Gene ExpressionIGHA2 [ NCBI-GEO ]   IGHA2 [ EBI - ARRAY_EXPRESS ]   IGHA2 [ SEEK ]   IGHA2 [ MEM ]
Gene Expression Viewer (FireBrowse)IGHA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3494
GTEX Portal (Tissue expression)IGHA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01877   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01877  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01877
Splice isoforms : SwissVarP01877
PhosPhoSitePlusP01877
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    Immunoglobulin   
Domain families : Pfam (Sanger)C1-set (PF07654)    ig (PF00047)   
Domain families : Pfam (NCBI)pfam07654    pfam00047   
Domain families : Smart (EMBL)IGc1 (SM00407)  
Conserved Domain (NCBI)IGHA2
DMDM Disease mutations3494
Blocks (Seattle)IGHA2
PDB (SRS)3CM9   
PDB (PDBSum)3CM9   
PDB (IMB)3CM9   
PDB (RSDB)3CM9   
Structural Biology KnowledgeBase3CM9   
SCOP (Structural Classification of Proteins)3CM9   
CATH (Classification of proteins structures)3CM9   
SuperfamilyP01877
Peptide AtlasP01877
IPIIPI00641229   IPI00784950   IPI00784758   IPI01015266   IPI00423461   IPI00785067   IPI00784830   IPI00642017   IPI00940245   
Protein Interaction databases
DIP (DOE-UCLA)P01877
IntAct (EBI)P01877
BioGRIDIGHA2
STRING (EMBL)IGHA2
ZODIACIGHA2
Ontologies - Pathways
QuickGOP01877
Ontology : AmiGOretina homeostasis  glomerular filtration  antigen binding  extracellular region  extracellular space  receptor-mediated endocytosis  phagocytosis, recognition  phagocytosis, engulfment  immune response  complement activation, classical pathway  external side of plasma membrane  antibacterial humoral response  immunoglobulin receptor binding  innate immune response  B cell receptor signaling pathway  positive regulation of B cell activation  leukocyte migration  positive regulation of respiratory burst  extracellular exosome  monomeric IgA immunoglobulin complex  secretory IgA immunoglobulin complex  secretory dimeric IgA immunoglobulin complex  blood microparticle  
Ontology : EGO-EBIretina homeostasis  glomerular filtration  antigen binding  extracellular region  extracellular space  receptor-mediated endocytosis  phagocytosis, recognition  phagocytosis, engulfment  immune response  complement activation, classical pathway  external side of plasma membrane  antibacterial humoral response  immunoglobulin receptor binding  innate immune response  B cell receptor signaling pathway  positive regulation of B cell activation  leukocyte migration  positive regulation of respiratory burst  extracellular exosome  monomeric IgA immunoglobulin complex  secretory IgA immunoglobulin complex  secretory dimeric IgA immunoglobulin complex  blood microparticle  
NDEx NetworkIGHA2
Atlas of Cancer Signalling NetworkIGHA2
Wikipedia pathwaysIGHA2
Orthology - Evolution
OrthoDB3494
Phylogenetic Trees/Animal Genes : TreeFamIGHA2
HOVERGENP01877
HOGENOMP01877
Homologs : HomoloGeneIGHA2
Homology/Alignments : Family Browser (UCSC)IGHA2
Gene fusions - Rearrangements
Fusion : MitelmanFOXP1/IGHA2 [3p13/14q32.33]  [t(3;14)(p13;q32)]  
Fusion : MitelmanIGHA2/ETV6 [14q32.33/12p13.2]  [t(12;14)(p13;q32)]  
Fusion : MitelmanIGHA2/NOL4 [14q32.33/18q12.1]  [t(14;18)(q32;q12)]  
Fusion : MitelmanZFP36L1/IGHA2 [14q24.1/14q32.33]  [del(14)(q24)]  [del(14)(q24q32)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIGHA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IGHA2
dbVarIGHA2
ClinVarIGHA2
1000_GenomesIGHA2 
Exome Variant ServerIGHA2
ExAC (Exome Aggregation Consortium)IGHA2 (select the gene name)
Genetic variants : HAPMAP3494
Genomic Variants (DGV)IGHA2 [DGVbeta]
DECIPHERIGHA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIGHA2 
Mutations
ICGC Data PortalIGHA2 
TCGA Data PortalIGHA2 
Broad Tumor PortalIGHA2
OASIS PortalIGHA2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDIGHA2
BioMutasearch IGHA2
DgiDB (Drug Gene Interaction Database)IGHA2
DoCM (Curated mutations)IGHA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IGHA2 (select a term)
intoGenIGHA2
Cancer3DIGHA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147000   
Orphanet
MedgenIGHA2
Genetic Testing Registry IGHA2
NextProtP01877 [Medical]
TSGene3494
GENETestsIGHA2
Target ValidationIGHA2
Huge Navigator IGHA2 [HugePedia]
snp3D : Map Gene to Disease3494
BioCentury BCIQIGHA2
ClinGenIGHA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3494
Chemical/Pharm GKB GenePA29711
Clinical trialIGHA2
Miscellaneous
canSAR (ICR)IGHA2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIGHA2
EVEXIGHA2
GoPubMedIGHA2
iHOPIGHA2
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 : Mon Sep 18 13:56:09 CEST 2017

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