Atlas of Genetics and Cytogenetics in Oncology and Haematology

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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 hg19 (Hinxton)ENSG00000132740 [Gene_View]  chr11:68671319-68708069 [Contig_View]  IGHMBP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000132740 [Gene_View]  chr11:68671319-68708069 [Contig_View]  IGHMBP2 [Vega]
ICGC DataPortalENSG00000132740
cBioPortalIGHMBP2
AceView (NCBI)IGHMBP2
Genatlas (Paris)IGHMBP2
WikiGenes3508
SOURCE (Princeton)IGHMBP2
Genomic and cartography
GoldenPath hg19 (UCSC)IGHMBP2  -     chr11:68671319-68708069 +  11q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IGHMBP2  -     11q13.3   [Description]    (hg38-Dec_2013)
EnsemblIGHMBP2 - 11q13.3 [CytoView hg19]  IGHMBP2 - 11q13.3 [CytoView hg38]
Mapping of homologs : NCBIIGHMBP2 [Mapview hg19]  IGHMBP2 [Mapview hg38]
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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    Helicase_ATP-bd    P-loop_NTPase    R3H_ss-bd    SMUBP-2/Hcs1_like    Znf_AN1   
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
Peptide AtlasP38935
HPRD02736
IPIIPI00009379   IPI01011312   IPI01011724   
Protein Interaction databases
DIP (DOE-UCLA)P38935
IntAct (EBI)P38935
FunCoupENSG00000132740
BioGRIDIGHMBP2
IntegromeDBIGHMBP2
STRING (EMBL)IGHMBP2
Ontologies - Pathways
QuickGOP38935
Ontology : AmiGOtRNA binding  DNA binding  DNA helicase activity  single-stranded DNA binding  RNA binding  protein binding  ATP binding  nucleus  cytoplasm  ATP catabolic process  DNA replication  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-templated  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  cell death  zinc ion binding  membrane  axon  growth cone  ribonucleoprotein complex  DNA duplex unwinding  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  ATP catabolic process  DNA replication  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-templated  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  cell death  zinc ion binding  membrane  axon  growth cone  ribonucleoprotein complex  DNA duplex unwinding  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
DoCM (Curated mutations)IGHMBP2
Wikipedia pathwaysIGHMBP2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerIGHMBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IGHMBP2
dbVarIGHMBP2
ClinVarIGHMBP2
1000_GenomesIGHMBP2 
Exome Variant ServerIGHMBP2
SNP (GeneSNP Utah)IGHMBP2
SNP : HGBaseIGHMBP2
Genetic variants : HAPMAPIGHMBP2
Genomic VariantsIGHMBP2  IGHMBP2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000132740 
Somatic Mutations in Cancer : COSMICIGHMBP2 
CONAN: Copy Number AnalysisIGHMBP2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:68671319-68708069
Mutations and Diseases : HGMDIGHMBP2
OMIM600502    604320   
MedgenIGHMBP2
NextProtP38935 [Medical]
GENETestsIGHMBP2
Disease Genetic AssociationIGHMBP2
Huge Navigator IGHMBP2 [HugePedia]  IGHMBP2 [HugeCancerGEM]
snp3D : Map Gene to Disease3508
DGIdb (Drug Gene Interaction db)IGHMBP2
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
PubMed34 Pubmed reference(s) in Entrez
CoreMineIGHMBP2
GoPubMedIGHMBP2
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:07:53 CET 2014
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