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MNX1 (homeo box HB9)

Written2003-12Anne RM von Bergh, H Berna Beverloo
Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

(Note : for Links provided by Atlas : click)

Identity

Alias_namesHLXB9
homeo box HB9
homeobox HB9
Alias_symbol (synonym)HB9
HOXHB9
SCRA1
Other aliasHLXB9 (homeo box HB9)
Mnr1
HGNC (Hugo) MNX1
LocusID (NCBI) 3110
Atlas_Id 393
Location 7q36.3  [Link to chromosome band 7q36]
Location_base_pair Starts at 157004853 and ends at 157009435 bp from pter ( according to hg19-Feb_2009)  [Mapping MNX1.png]
Fusion genes
(updated 2016)
ETV6 (12p13.2) / MNX1 (7q36.3)MNX1 (7q36.3) / ETV6 (12p13.2)MNX1 (7q36.3) / MYB (6q23.3)
MNX1 (7q36.3) / TRPM3 (9q21.12)MYB (6q23.3) / MNX1 (7q36.3)
Note telomeric to c7orf3 and SHH

DNA/RNA

Description 3 exons stretched over an area of 5-6 kb.
Transcription In a telomere to centromere direction; 2061 bp mRNA, 1206 bp open reading frame.

Protein

Description The homeobox gene HLXB9 encodes the nuclear protein HB9. The protein contains a polyalanine repeat region and a homeobox domain.
Expression Expressed in lymphoid and pancreatic tissues. Highly expressed in CD34+ bone marrow cells, down regulated upon differentiation.
Localisation Nuclear
Function Putative transcription factor.
Homology Related to Mnr2.

Mutations

Note Mutations in HLXB9 cause an autosomal dominant form of sacral agenesis, known as Currarino syndrome.

Implicated in

Note
  
Entity t(7;12)(q36;p13) - associated infant acute myeloid leukemia (AML)
Prognosis Prognosis probably poor: median survival is 13 months.
Cytogenetics t(7;12)(q36;p13), but not always visible by chromosome banding; may also be misdiagnosed as del(12)(p13).
Hybrid/Mutated Gene 5' HLXB9 _ 3' ETV6
 
Fig. 3. Schematic representation of the HLXB9 and ETV6 proteins and the putative HLXB9-ETV6 chimeric protein resulting from the t(7;12)(q36;p13). Arrow, the observed breakpoints. nt numbers (cDNA level) are given above each protein, and amino acid numbers are given in bold type below each protein.
Abnormal Protein N-term HLXB9, including its polyalanine repeat, is fused to a large C-term part of the ETV6 protein including its HLH domain and ETS domain; the homeobox domain of HLXB9 is not retained in the fusion protein; the reciprocal transcript is not expressed.
  

To be noted

The t(7;12) is heterogeneous at the molecular level. The formation of a fusion gene has only been described in 2 cases and may not be the only mechanism by which HLXB9 is involved in t(7;12)-associated leukaemias. Additional 7q36 genes may also be involved.

Bibliography

Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13).
Beverloo HB, Panagopoulos I, Isaksson M, van Wering E, van Drunen E, de Klein A, Johansson B, Slater R
Cancer research. 2001 ; 61 (14) : 5374-5377.
PMID 11454678
 
A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues.
Harrison KA, Druey KM, Deguchi Y, Tuscano JM, Kehrl JH
The Journal of biological chemistry. 1994 ; 269 (31) : 19968-19975.
PMID 7914194
 
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T
Nature genetics. 1998 ; 20 (4) : 358-361.
PMID 9843207
 

Citation

This paper should be referenced as such :
von Bergh, ARM ; Beverloo, HB
HLXB9 (homeo box HB9)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):12-13.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HLXB9ID393.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(7;12)(q36;p13) MNX1/ETV6
t(7;12)(q34;p13) TRB/CCND2::t(12;14)(p13;q11) TRA or TRD/CCND2


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Currarino syndrome


External links

Nomenclature
HGNC (Hugo)MNX1   4979
Cards
AtlasHLXB9ID393
Entrez_Gene (NCBI)MNX1  3110  motor neuron and pancreas homeobox 1
AliasesHB9; HLXB9; HOXHB9; SCRA1
GeneCards (Weizmann)MNX1
Ensembl hg19 (Hinxton)ENSG00000130675 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130675 [Gene_View]  chr7:157004853-157009435 [Contig_View]  MNX1 [Vega]
ICGC DataPortalENSG00000130675
TCGA cBioPortalMNX1
AceView (NCBI)MNX1
Genatlas (Paris)MNX1
WikiGenes3110
SOURCE (Princeton)MNX1
Genetics Home Reference (NIH)MNX1
Genomic and cartography
GoldenPath hg38 (UCSC)MNX1  -     chr7:157004853-157009435 -  7q36.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MNX1  -     7q36.3   [Description]    (hg19-Feb_2009)
EnsemblMNX1 - 7q36.3 [CytoView hg19]  MNX1 - 7q36.3 [CytoView hg38]
Mapping of homologs : NCBIMNX1 [Mapview hg19]  MNX1 [Mapview hg38]
OMIM142994   176450   
Gene and transcription
Genbank (Entrez)AF107457 AY927457 AY927459 AY927460 AY927461
RefSeq transcript (Entrez)NM_001165255 NM_005515
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MNX1
Cluster EST : UnigeneHs.37035 [ NCBI ]
CGAP (NCI)Hs.37035
Alternative Splicing GalleryENSG00000130675
Gene ExpressionMNX1 [ NCBI-GEO ]   MNX1 [ EBI - ARRAY_EXPRESS ]   MNX1 [ SEEK ]   MNX1 [ MEM ]
Gene Expression Viewer (FireBrowse)MNX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3110
GTEX Portal (Tissue expression)MNX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50219   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50219  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50219
Splice isoforms : SwissVarP50219
PhosPhoSitePlusP50219
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    Homeobox_metazoa   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)MNX1
DMDM Disease mutations3110
Blocks (Seattle)MNX1
SuperfamilyP50219
Human Protein AtlasENSG00000130675
Peptide AtlasP50219
HPRD00874
IPIIPI00030703   IPI00925104   IPI01014673   IPI00924644   
Protein Interaction databases
DIP (DOE-UCLA)P50219
IntAct (EBI)P50219
FunCoupENSG00000130675
BioGRIDMNX1
STRING (EMBL)MNX1
ZODIACMNX1
Ontologies - Pathways
QuickGOP50219
Ontology : AmiGOtranscription factor activity, sequence-specific DNA binding  nucleus  nucleus  nucleolus  cytosol  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  humoral immune response  anatomical structure morphogenesis  spinal cord motor neuron cell fate specification  endocrine pancreas development  sequence-specific DNA binding  neuron projection morphogenesis  
Ontology : EGO-EBItranscription factor activity, sequence-specific DNA binding  nucleus  nucleus  nucleolus  cytosol  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  humoral immune response  anatomical structure morphogenesis  spinal cord motor neuron cell fate specification  endocrine pancreas development  sequence-specific DNA binding  neuron projection morphogenesis  
Pathways : KEGGMaturity onset diabetes of the young   
NDEx NetworkMNX1
Atlas of Cancer Signalling NetworkMNX1
Wikipedia pathwaysMNX1
Orthology - Evolution
OrthoDB3110
GeneTree (enSembl)ENSG00000130675
Phylogenetic Trees/Animal Genes : TreeFamMNX1
HOVERGENP50219
HOGENOMP50219
Homologs : HomoloGeneMNX1
Homology/Alignments : Family Browser (UCSC)MNX1
Gene fusions - Rearrangements
Fusion : MitelmanMNX1/ETV6 [7q36.3/12p13.2]  
Fusion : MitelmanMYB/MNX1 [6q23.3/7q36.3]  [t(6;7)(q23;q36)]  
Fusion : TICdbMNX1 [7q36.3]  -  ETV6 [12p13.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMNX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MNX1
dbVarMNX1
ClinVarMNX1
1000_GenomesMNX1 
Exome Variant ServerMNX1
ExAC (Exome Aggregation Consortium)MNX1 (select the gene name)
Genetic variants : HAPMAP3110
Genomic Variants (DGV)MNX1 [DGVbeta]
DECIPHERMNX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMNX1 
Mutations
ICGC Data PortalMNX1 
TCGA Data PortalMNX1 
Broad Tumor PortalMNX1
OASIS PortalMNX1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMNX1 
Somatic Mutations in Cancer : COSMICMNX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMNX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MNX1
DgiDB (Drug Gene Interaction Database)MNX1
DoCM (Curated mutations)MNX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MNX1 (select a term)
intoGenMNX1
NCG5 (London)MNX1
Cancer3DMNX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142994    176450   
Orphanet1082   
MedgenMNX1
Genetic Testing Registry MNX1
NextProtP50219 [Medical]
TSGene3110
GENETestsMNX1
Target ValidationMNX1
Huge Navigator MNX1 [HugePedia]
snp3D : Map Gene to Disease3110
BioCentury BCIQMNX1
ClinGenMNX1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3110
Chemical/Pharm GKB GenePA162396041
Clinical trialMNX1
Miscellaneous
canSAR (ICR)MNX1 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMNX1
EVEXMNX1
GoPubMedMNX1
iHOPMNX1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:27:57 CEST 2017

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