Atlas of Genetics and Cytogenetics in Oncology and Haematology

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IGHMBP2 (immunoglobulin mu DNA binding protein 2)

Identity

Alias (NCBI)CATF1
CMT2S
HCSA
HMN6
SMARD1
SMUBP2
ZFAND7
HGNC (Hugo) IGHMBP2
HGNC Alias symbZFAND7
SMUBP2
CATF1
SMARD1
HCSA
HMN6
CMT2S
HGNC Alias namecardiac transcription factor 1
 zinc finger, AN1-type domain 7
HGNC Previous nameimmunoglobulin mu binding protein 2
LocusID (NCBI) 3508
Atlas_Id 40935
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 68903891 and ends at 68940601 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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
LRG (Locus Reference Genomic)LRG_250
Cards
Entrez_Gene (NCBI)IGHMBP2  3508  immunoglobulin mu DNA binding protein 2
AliasesCATF1; CMT2S; HCSA; HMN6; 
SMARD1; SMUBP2; ZFAND7
GeneCards (Weizmann)IGHMBP2
Ensembl hg19 (Hinxton)ENSG00000132740 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132740 [Gene_View]  ENSG00000132740 [Sequence]  chr11:68903891-68940601 [Contig_View]  IGHMBP2 [Vega]
ICGC DataPortalENSG00000132740
TCGA cBioPortalIGHMBP2
AceView (NCBI)IGHMBP2
Genatlas (Paris)IGHMBP2
WikiGenes3508
SOURCE (Princeton)IGHMBP2
Genetics Home Reference (NIH)IGHMBP2
Genomic and cartography
GoldenPath hg38 (UCSC)IGHMBP2  -     chr11:68903891-68940601 +  11q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IGHMBP2  -     11q13.3   [Description]    (hg19-Feb_2009)
GoldenPathIGHMBP2 - 11q13.3 [CytoView hg19]  IGHMBP2 - 11q13.3 [CytoView hg38]
ImmunoBaseENSG00000132740
genome Data Viewer NCBIIGHMBP2 [Mapview hg19]  
OMIM600502   604320   616155   
Gene and transcription
Genbank (Entrez)AB208802 AF052128 AK091539 AK123166 AK312565
RefSeq transcript (Entrez)NM_002180
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IGHMBP2
Alternative Splicing GalleryENSG00000132740
Gene ExpressionIGHMBP2 [ NCBI-GEO ]   IGHMBP2 [ EBI - ARRAY_EXPRESS ]   IGHMBP2 [ SEEK ]   IGHMBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)IGHMBP2 [ Firebrowse - Broad ]
GenevisibleExpression of IGHMBP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3508
GTEX Portal (Tissue expression)IGHMBP2
Human Protein AtlasENSG00000132740-IGHMBP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP38935   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP38935  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP38935
Splice isoforms : SwissVarP38935
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 ]   [ MEROPS ]
PhosPhoSitePlusP38935
Domaine pattern : Prosite (Expaxy)R3H (PS51061)    ZF_AN1 (PS51039)   
Domains : Interpro (EBI)AAA+_ATPase    AN1-like_Znf    DNA2/NAM7-like_AAA    DNA2/NAM7_AAA_11    Helicase_ATP-bd    P-loop_NTPase    R3H_dom    R3H_dom_sf    R3H_Smubp-2    SMUBP-2/Hcs1-like    Znf_AN1   
Domain families : Pfam (Sanger)AAA_11 (PF13086)    AAA_12 (PF13087)    R3H (PF01424)    zf-AN1 (PF01428)   
Domain families : Pfam (NCBI)pfam13086    pfam13087    pfam01424    pfam01428   
Domain families : Smart (EMBL)AAA (SM00382)  DEXDc (SM00487)  R3H (SM00393)  ZnF_AN1 (SM00154)  
Conserved Domain (NCBI)IGHMBP2
DMDM Disease mutations3508
Blocks (Seattle)IGHMBP2
PDB (RSDB)1MSZ    2LRR    4B3F    4B3G   
PDB Europe1MSZ    2LRR    4B3F    4B3G   
PDB (PDBSum)1MSZ    2LRR    4B3F    4B3G   
PDB (IMB)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 Atlas [tissue]ENSG00000132740-IGHMBP2 [tissue]
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  negative regulation of transcription by RNA polymerase II  DNA binding  DNA helicase activity  single-stranded DNA binding  RNA binding  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  DNA replication  DNA repair  DNA recombination  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  zinc ion binding  membrane  axon  growth cone  DNA duplex unwinding  5'-3' RNA helicase activity  identical protein binding  ribosome binding  5'-3' DNA helicase activity  ribonucleoprotein complex  
Ontology : EGO-EBItRNA binding  negative regulation of transcription by RNA polymerase II  DNA binding  DNA helicase activity  single-stranded DNA binding  RNA binding  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  DNA replication  DNA repair  DNA recombination  translation  DNA-dependent ATPase activity  transcription factor binding  RNA-dependent ATPase activity  zinc ion binding  membrane  axon  growth cone  DNA duplex unwinding  5'-3' RNA helicase activity  identical protein binding  ribosome binding  5'-3' DNA helicase activity  ribonucleoprotein complex  
NDEx NetworkIGHMBP2
Atlas of Cancer Signalling NetworkIGHMBP2
Wikipedia pathwaysIGHMBP2
Orthology - Evolution
OrthoDB3508
GeneTree (enSembl)ENSG00000132740
Phylogenetic Trees/Animal Genes : TreeFamIGHMBP2
HOGENOMP38935
Homologs : HomoloGeneIGHMBP2
Homology/Alignments : Family Browser (UCSC)IGHMBP2
Gene fusions - Rearrangements
Fusion : MitelmanADRBK1/IGHMBP2 [11q13.2/11q13.3]  
Fusion : MitelmanIGHMBP2/C7orf72 [11q13.3/7p12.2]  
Fusion PortalIGHMBP2 11q13.3 C7orf72 7p12.2 BRCA
Fusion : QuiverIGHMBP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIGHMBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IGHMBP2
dbVarIGHMBP2
ClinVarIGHMBP2
MonarchIGHMBP2
1000_GenomesIGHMBP2 
Exome Variant ServerIGHMBP2
GNOMAD BrowserENSG00000132740
Varsome BrowserIGHMBP2
Genetic variants : HAPMAP3508
Genomic Variants (DGV)IGHMBP2 [DGVbeta]
DECIPHERIGHMBP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIGHMBP2 
Mutations
ICGC Data PortalIGHMBP2 
TCGA Data PortalIGHMBP2 
Broad Tumor PortalIGHMBP2
OASIS PortalIGHMBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIGHMBP2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DIGHMBP2
Mutations and Diseases : HGMDIGHMBP2
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
Cancer3DIGHMBP2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600502    604320    616155   
Orphanet23437    13937   
DisGeNETIGHMBP2
MedgenIGHMBP2
Genetic Testing Registry IGHMBP2
NextProtP38935 [Medical]
TSGene3508
GENETestsIGHMBP2
Target ValidationIGHMBP2
Huge Navigator IGHMBP2 [HugePedia]
snp3D : Map Gene to Disease3508
BioCentury BCIQIGHMBP2
ClinGenIGHMBP2
Clinical trials, drugs, therapy
Protein Interactions : CTD3508
Pharm GKB GenePA29731
Clinical trialIGHMBP2
Miscellaneous
canSAR (ICR)IGHMBP2 (select the gene name)
HarmonizomeIGHMBP2
DataMed IndexIGHMBP2
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIGHMBP2
EVEXIGHMBP2
GoPubMedIGHMBP2
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 14 14:15:31 CEST 2020
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