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IGHMBP2 (immunoglobulin mu binding protein 2)

Identity

Other namesCATF1
CMT2S
HCSA
HMN6
SMARD1
SMUBP2
ZFAND7
HGNC (Hugo) IGHMBP2
LocusID (NCBI) 3508
Atlas_Id 40935
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 68671319 and ends at 68708069 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)		ADRBK1 (11q13.2) / IGHMBP2 (11q13.3)IGHMBP2 (11q13.3) / C7orf72 (7p12.2)IGHMBP2 (11q13.3) / NSL1 (1q32.3)
IGHMBP2 11q13.3 / C7orf72 7p12.2

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)IGHMBP2   5542
Cards
Entrez_Gene (NCBI)IGHMBP2  3508  immunoglobulin mu binding protein 2
AliasesCATF1; CMT2S; HCSA; HMN6; 
SMARD1; SMUBP2; ZFAND7
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
TCGA 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   616155   
Gene and transcription
Genbank (Entrez)AB208802 AF052128 AK091539 AK123166 AK312565
RefSeq transcript (Entrez)NM_002180
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_007976 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)IGHMBP2
Cluster EST : UnigeneHs.503048 [ NCBI ]
CGAP (NCI)Hs.503048
Alternative Splicing GalleryENSG00000132740
Gene ExpressionIGHMBP2 [ NCBI-GEO ]   IGHMBP2 [ EBI - ARRAY_EXPRESS ]   IGHMBP2 [ SEEK ]   IGHMBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)IGHMBP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3508
GTEX Portal (Tissue expression)IGHMBP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP38935 (Uniprot)
NextProtP38935  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusP38935
Domaine pattern : Prosite (Expaxy)R3H (PS51061)    ZF_AN1 (PS51039)   
Domains : Interpro (EBI)AAA+_ATPase    Helicase_ATP-bd    P-loop_NTPase    R3H_dom    SMUBP-2/Hcs1-like    Znf_AN1   
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)IGHMBP2
PDB (SRS)1MSZ    2LRR    4B3F    4B3G   
PDB (PDBSum)1MSZ    2LRR    4B3F    4B3G   
PDB (IMB)1MSZ    2LRR    4B3F    4B3G   
PDB (RSDB)1MSZ    2LRR    4B3F    4B3G   
Structural Biology KnowledgeBase1MSZ    2LRR    4B3F    4B3G   
SCOP (Structural Classification of Proteins)1MSZ    2LRR    4B3F    4B3G   
CATH (Classification of proteins structures)1MSZ    2LRR    4B3F    4B3G   
SuperfamilyP38935
Human Protein AtlasENSG00000132740
Peptide AtlasP38935
HPRD02736
IPIIPI00009379   IPI01011312   IPI01011724   
Protein Interaction databases
DIP (DOE-UCLA)P38935
IntAct (EBI)P38935
FunCoupENSG00000132740
BioGRIDIGHMBP2
STRING (EMBL)IGHMBP2
ZODIACIGHMBP2
Ontologies - Pathways
QuickGOP38935
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 from RNA polymerase II promoter  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  zinc ion binding  membrane  axon  growth cone  intracellular 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  DNA replication  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  zinc ion binding  membrane  axon  growth cone  intracellular 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  
NDEx NetworkIGHMBP2
Atlas of Cancer Signalling NetworkIGHMBP2
Wikipedia pathwaysIGHMBP2
Orthology - Evolution
OrthoDB3508
GeneTree (enSembl)ENSG00000132740
Phylogenetic Trees/Animal Genes : TreeFamIGHMBP2
Homologs : HomoloGeneIGHMBP2
Homology/Alignments : Family Browser (UCSC)IGHMBP2
Gene fusions - Rearrangements
Fusion: TCGAIGHMBP2 11q13.3 C7orf72 7p12.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerIGHMBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IGHMBP2
dbVarIGHMBP2
ClinVarIGHMBP2
1000_GenomesIGHMBP2 
Exome Variant ServerIGHMBP2
ExAC (Exome Aggregation Consortium)IGHMBP2 (select the gene name)
Genetic variants : HAPMAP3508
Genomic Variants (DGV)IGHMBP2 [DGVbeta]
Mutations
ICGC Data PortalIGHMBP2 
TCGA Data PortalIGHMBP2 
Broad Tumor PortalIGHMBP2
OASIS PortalIGHMBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIGHMBP2 
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
BioMutasearch IGHMBP2
DgiDB (Drug Gene Interaction Database)IGHMBP2
DoCM (Curated mutations)IGHMBP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IGHMBP2 (select a term)
intoGenIGHMBP2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:68671319-68708069  ENSG00000132740
CONAN: Copy Number AnalysisIGHMBP2 
Mutations and Diseases : HGMDIGHMBP2
OMIM600502    604320    616155   
MedgenIGHMBP2
Genetic Testing Registry IGHMBP2
NextProtP38935 [Medical]
TSGene3508
GENETestsIGHMBP2
Huge Navigator IGHMBP2 [HugePedia]
snp3D : Map Gene to Disease3508
BioCentury BCIQIGHMBP2
ClinGenIGHMBP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3508
Chemical/Pharm GKB GenePA29731
Clinical trialIGHMBP2
Miscellaneous
canSAR (ICR)IGHMBP2 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIGHMBP2
EVEXIGHMBP2
GoPubMedIGHMBP2
iHOPIGHMBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:54:32 CEST 2016
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