Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HOXA9 (homeobox A9)

Written1998-01Jean-loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesHOX1G
HOX1
homeo box A9
Other aliasHOX1G (homeobox-1G);
HGNC (Hugo) HOXA9
LocusID (NCBI) 3205
Atlas_Id 61
Location 7p15.2  [Link to chromosome band 7p15]
Location_base_pair Starts at 27162438 and ends at 27165530 bp from pter ( according to hg19-Feb_2009)  [Mapping HOXA9.png]
Fusion genes
(updated 2016)
GATA2 (3q21.3) / HOXA9 (7p15.2)HOXA9 (7p15.2) / MSI2 (17q22)HOXA9 (7p15.2) / NUP98 (11p15.4)
MED12 (Xq13.1) / HOXA9 (7p15.2)MSI2 (17q22) / HOXA9 (7p15.2)NUP98 (11p15.4) / HOXA9 (7p15.2)
TRB () / HOXA9 (7p15.2)

Protein

Description 129 amino acids; DNA binding domain (homeobox) in C-term
Localisation nuclear
Function sequence specific transcription factor; role during embryonic development (patterning); HOX genes are also expressed in adult tissues, including blood cells; probable role in blood cell differenciation
Homology with class 1 homeodomain proteins

Implicated in

Note
  
Entity t(7;11)(p15;p15)/AML --> NUP98-HOXA9
Disease M2-M4 AML mostly; occasionally: CML-like cases
Prognosis mean survival: 15 mths
Cytogenetics sole anomaly most often
Hybrid/Mutated Gene 5' NUP98 - 3' HOXA9
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the HOXA9 homeobox
  

Breakpoints

 

Bibliography

The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9.
Borrow J, Shearman AM, Stanton VP Jr, Becher R, Collins T, Williams AJ, Dubé I, Katz F, Kwong YL, Morris C, Ohyashiki K, Toyama K, Rowley J, Housman DE
Nature genetics. 1996 ; 12 (2) : 159-167.
PMID 8563754
 
Mice bearing a targeted interruption of the homeobox gene HOXA9 have defects in myeloid, erythroid, and lymphoid hematopoiesis.
Lawrence HJ, Helgason CD, Sauvageau G, Fong S, Izon DJ, Humphries RK, Largman C
Blood. 1997 ; 89 (6) : 1922-1930.
PMID 9058712
 
Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia.
Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA, Copeland NG, Shaughnessy JD Jr
Nature genetics. 1996 ; 12 (2) : 154-158.
PMID 8563753
 

Citation

This paper should be referenced as such :
Jean-Loup Huret
HOXA9 (homeobox A9)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):6-6.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HOXA9ID61.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 15 ]
  inv(11)(p15q23) NUP98/KMT2A
r(8)
t(1;11)(q23;p15) NUP98/PRRX1
t(2;11)(p21;q23) KMT2A/?
t(4;11)(q21;q23) KMT2A/AFF1
t(4;11)(q21;p15) NUP98/RAP1GDS1
t(6;11)(q13;q23) KMT2A/SMAP1
t(7;11)(p15;p15) NUP98/HOXA9
t(7;14)(p15;q11) TRD/HOXA10
t(7;17)(p15;q23) MSI2/HOXA9
t(X;11)(q28;p15) NUP98/HMGB3
t(10;11)(q22;q23) KMT2A/TET1
t(11;11)(q14;q23) KMT2A/PICALM::inv(11)(q14q23) KMT2A/PICALM
t(11;16)(q23;p13.3) KMT2A/CREBBP
T-lineage acute lymphoblastic leukemia (T-ALL)


External links

Nomenclature
HGNC (Hugo)HOXA9   5109
Cards
AtlasHOXA9ID61
Entrez_Gene (NCBI)HOXA9  3205  homeobox A9
AliasesABD-B; HOX1; HOX1.7; HOX1G
GeneCards (Weizmann)HOXA9
Ensembl hg19 (Hinxton)ENSG00000078399 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078399 [Gene_View]  chr7:27162438-27165530 [Contig_View]  HOXA9 [Vega]
ICGC DataPortalENSG00000078399
TCGA cBioPortalHOXA9
AceView (NCBI)HOXA9
Genatlas (Paris)HOXA9
WikiGenes3205
SOURCE (Princeton)HOXA9
Genetics Home Reference (NIH)HOXA9
Genomic and cartography
GoldenPath hg38 (UCSC)HOXA9  -     chr7:27162438-27165530 -  7p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HOXA9  -     7p15.2   [Description]    (hg19-Feb_2009)
EnsemblHOXA9 - 7p15.2 [CytoView hg19]  HOXA9 - 7p15.2 [CytoView hg38]
Mapping of homologs : NCBIHOXA9 [Mapview hg19]  HOXA9 [Mapview hg38]
OMIM142956   
Gene and transcription
Genbank (Entrez)AM393527 AW612618 BC006537 BC010023 BG258601
RefSeq transcript (Entrez)NM_152739
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HOXA9
Cluster EST : UnigeneHs.659350 [ NCBI ]
CGAP (NCI)Hs.659350
Alternative Splicing GalleryENSG00000078399
Gene ExpressionHOXA9 [ NCBI-GEO ]   HOXA9 [ EBI - ARRAY_EXPRESS ]   HOXA9 [ SEEK ]   HOXA9 [ MEM ]
Gene Expression Viewer (FireBrowse)HOXA9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3205
GTEX Portal (Tissue expression)HOXA9
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31269   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31269  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31269
Splice isoforms : SwissVarP31269
PhosPhoSitePlusP31269
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    Homeobox_metazoa    Hox9_activation_N    HXA9/HXB9/HXC9   
Domain families : Pfam (Sanger)Homeobox (PF00046)    Hox9_act (PF04617)   
Domain families : Pfam (NCBI)pfam00046    pfam04617   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)HOXA9
DMDM Disease mutations3205
Blocks (Seattle)HOXA9
SuperfamilyP31269
Human Protein AtlasENSG00000078399
Peptide AtlasP31269
HPRD00844
IPIIPI00010744   IPI00031722   IPI00382764   IPI01009403   
Protein Interaction databases
DIP (DOE-UCLA)P31269
IntAct (EBI)P31269
FunCoupENSG00000078399
BioGRIDHOXA9
STRING (EMBL)HOXA9
ZODIACHOXA9
Ontologies - Pathways
QuickGOP31269
Ontology : AmiGOprotein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  enzyme binding  endothelial cell activation  sequence-specific DNA binding  negative regulation of myeloid cell differentiation  
Ontology : EGO-EBIprotein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  enzyme binding  endothelial cell activation  sequence-specific DNA binding  negative regulation of myeloid cell differentiation  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkHOXA9
Atlas of Cancer Signalling NetworkHOXA9
Wikipedia pathwaysHOXA9
Orthology - Evolution
OrthoDB3205
GeneTree (enSembl)ENSG00000078399
Phylogenetic Trees/Animal Genes : TreeFamHOXA9
HOVERGENP31269
HOGENOMP31269
Homologs : HomoloGeneHOXA9
Homology/Alignments : Family Browser (UCSC)HOXA9
Gene fusions - Rearrangements
Fusion : MitelmanGATA2/HOXA9 [3q21.3/7p15.2]  [t(3;7)(q21;p15)]  
Fusion : MitelmanMSI2/HOXA9 [17q22/7p15.2]  [t(7;17)(p15;q22)]  
Fusion : MitelmanNUP98/HOXA9 [11p15.4/7p15.2]  [t(7;11)(p15;p15)]  
Fusion : TICdbMSI2 [17q22]  -  HOXA9 [7p15.2]
Fusion : TICdbNUP98 [11p15.4]  -  HOXA9 [7p15.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHOXA9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HOXA9
dbVarHOXA9
ClinVarHOXA9
1000_GenomesHOXA9 
Exome Variant ServerHOXA9
ExAC (Exome Aggregation Consortium)HOXA9 (select the gene name)
Genetic variants : HAPMAP3205
Genomic Variants (DGV)HOXA9 [DGVbeta]
DECIPHERHOXA9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHOXA9 
Mutations
ICGC Data PortalHOXA9 
TCGA Data PortalHOXA9 
Broad Tumor PortalHOXA9
OASIS PortalHOXA9 [ Somatic mutations - Copy number]
Cancer Gene: CensusHOXA9 
Somatic Mutations in Cancer : COSMICHOXA9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHOXA9
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 HOXA9
DgiDB (Drug Gene Interaction Database)HOXA9
DoCM (Curated mutations)HOXA9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HOXA9 (select a term)
intoGenHOXA9
NCG5 (London)HOXA9
Cancer3DHOXA9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142956   
Orphanet
MedgenHOXA9
Genetic Testing Registry HOXA9
NextProtP31269 [Medical]
TSGene3205
GENETestsHOXA9
Target ValidationHOXA9
Huge Navigator HOXA9 [HugePedia]
snp3D : Map Gene to Disease3205
BioCentury BCIQHOXA9
ClinGenHOXA9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3205
Chemical/Pharm GKB GenePA29386
Clinical trialHOXA9
Miscellaneous
canSAR (ICR)HOXA9 (select the gene name)
Probes
Litterature
PubMed134 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHOXA9
EVEXHOXA9
GoPubMedHOXA9
iHOPHOXA9
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:04:39 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.