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IGHMBP2 (immunoglobulin mu binding protein 2)

Identity

Other namesCATF1
HCSA
HMN6
SMARD1
SMUBP2
ZFAND7
HGNC (Hugo) IGHMBP2
LocusID (NCBI) 3508
Location 11q13.3
Location_base_pair Starts at 68671319 and ends at 68708069 bp from pter ( according to hg19-Feb_2009)
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)IGHMBP2   5542
Cards
Entrez_Gene (NCBI)IGHMBP2  3508  immunoglobulin mu binding protein 2
GeneCards (Weizmann)IGHMBP2
Ensembl (Hinxton)ENSG00000132740 [Gene_View]  chr11:68671319-68708069 [Contig_View]  IGHMBP2 [Vega]
ICGC DataPortalENSG00000132740
cBioPortalIGHMBP2
AceView (NCBI)IGHMBP2
Genatlas (Paris)IGHMBP2
WikiGenes3508
SOURCE (Princeton)NM_002180
Genomic and cartography
GoldenPath (UCSC)IGHMBP2  -  11q13.3   chr11:68671319-68708069 +  11q13.3   [Description]    (hg19-Feb_2009)
EnsemblIGHMBP2 - 11q13.3 [CytoView]
Mapping of homologs : NCBIIGHMBP2 [Mapview]
OMIM600502   604320   
Gene and transcription
Genbank (Entrez)AB208802 AF052128 AK091539 AK123166 AK312565
RefSeq transcript (Entrez)NM_002180
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_007976 NT_167190 NW_001838025 NW_004929380
Consensus coding sequences : CCDS (NCBI)IGHMBP2
Cluster EST : UnigeneHs.503048 [ NCBI ]
CGAP (NCI)Hs.503048
Alternative Splicing : Fast-db (Paris)GSHG0005054
Alternative Splicing GalleryENSG00000132740
Gene ExpressionIGHMBP2 [ NCBI-GEO ]     IGHMBP2 [ SEEK ]   IGHMBP2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP38935 (Uniprot)
NextProtP38935  [Medical]
With graphics : InterProP38935
Splice isoforms : SwissVarP38935 (Swissvar)
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)R3H (PS51061)    ZF_AN1 (PS51039)   
Domains : Interpro (EBI)AAA+_ATPase [organisation]   DNA_helicase_put [organisation]   Helicase_ATP-bd [organisation]   P-loop_NTPase [organisation]   R3H_ss-bd [organisation]   SMUBP-2 [organisation]   Znf_AN1 [organisation]  
Related proteins : CluSTrP38935
Domain families : Pfam (Sanger)R3H (PF01424)    zf-AN1 (PF01428)   
Domain families : Pfam (NCBI)pfam01424    pfam01428   
Domain families : Smart (EMBL)AAA (SM00382)  DEXDc (SM00487)  R3H (SM00393)  ZnF_AN1 (SM00154)  
DMDM Disease mutations3508
Blocks (Seattle)P38935
PDB (SRS)1MSZ    2LRR    4B3F    4B3G   
PDB (PDBSum)1MSZ    2LRR    4B3F    4B3G   
PDB (IMB)1MSZ    2LRR    4B3F    4B3G   
PDB (RSDB)1MSZ    2LRR    4B3F    4B3G   
Human Protein AtlasENSG00000132740 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP38935
HPRD02736
IPIIPI00009379   IPI01011312   IPI01011724   
Protein Interaction databases
DIP (DOE-UCLA)P38935
IntAct (EBI)P38935
FunCoupENSG00000132740
BioGRIDIGHMBP2
InParanoidP38935
Interologous Interaction database P38935
IntegromeDBIGHMBP2
STRING (EMBL)IGHMBP2
Ontologies - Pathways
Ontology : AmiGOtRNA binding  DNA binding  DNA helicase activity  single-stranded DNA binding  RNA binding  protein binding  ATP binding  nucleus  cytoplasm  DNA replication  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-dependent  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  cell death  zinc ion binding  axon  growth cone  ribonucleoprotein complex  DNA duplex unwinding  ATP-dependent 5'-3' RNA helicase activity  SMN complex  ribosome binding  ATP-dependent 5'-3' DNA helicase activity  protein homooligomerization  
Ontology : EGO-EBItRNA binding  DNA binding  DNA helicase activity  single-stranded DNA binding  RNA binding  protein binding  ATP binding  nucleus  cytoplasm  DNA replication  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-dependent  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  cell death  zinc ion binding  axon  growth cone  ribonucleoprotein complex  DNA duplex unwinding  ATP-dependent 5'-3' RNA helicase activity  SMN complex  ribosome binding  ATP-dependent 5'-3' DNA helicase activity  protein homooligomerization  
Protein Interaction DatabaseIGHMBP2
Wikipedia pathwaysIGHMBP2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)IGHMBP2
snp3D : Map Gene to Disease3508
SNP (GeneSNP Utah)IGHMBP2
SNP : HGBaseIGHMBP2
Genetic variants : HAPMAPIGHMBP2
Exome VariantIGHMBP2
1000_GenomesIGHMBP2 
ICGC programENSG00000132740 
Somatic Mutations in Cancer : COSMICIGHMBP2 
CONAN: Copy Number AnalysisIGHMBP2 
Mutations and Diseases : HGMDIGHMBP2
Genomic VariantsIGHMBP2  IGHMBP2 [DGVbeta]
dbVarIGHMBP2
ClinVarIGHMBP2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM600502    604320   
MedgenIGHMBP2
GENETestsIGHMBP2
Disease Genetic AssociationIGHMBP2
Huge Navigator IGHMBP2 [HugePedia]  IGHMBP2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneIGHMBP2
Homology/Alignments : Family Browser (UCSC)IGHMBP2
Phylogenetic Trees/Animal Genes : TreeFamIGHMBP2
Chemical/Protein Interactions : CTD3508
Chemical/Pharm GKB GenePA29731
Clinical trialIGHMBP2
Cancer Resource (Charite)ENSG00000132740
Other databases
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
CoreMineIGHMBP2
iHOPIGHMBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:59:57 CEST 2014

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