HLXB9 (homeo box HB9)

Identity

Other names	HB9
	HOXHB9
	SCRA1
	Mnr1
Hugo	MNX1
Location	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

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).
	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.
Hybrid/Mutated Gene	5' HLXB9 _ 3' ETV6
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.

External links

	Nomenclature
Hugo	MNX1
GDB	MNX1
Entrez_Gene	MNX1  3110  motor neuron and pancreas homeobox 1
	Cards
Atlas	HLXB9ID393
GeneCards	MNX1
Ensembl	MNX1 [Search_View]   ENSG00000130675 [Gene_View]
Genatlas	MNX1
GeneLynx	MNX1
eGenome	MNX1
euGene	3110
	Genomic and cartography
GoldenPath	MNX1  -  7q36.3   chr7:156490308-156496108 -  7q36   [Description]    (hg18-Mar_2006)
Ensembl	MNX1 - 7q36 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MNX1
	Gene and transcription
Genbank	AF107457 [ ENTREZ ]
Genbank	AY927460 [ ENTREZ ]
Genbank	BC160126 [ ENTREZ ]
Genbank	CR623223 [ ENTREZ ]
Genbank	X56537 [ ENTREZ ]
RefSeq	NM_005515 [ SRS ]    NM_005515 [ ENTREZ ]
RefSeq	AC_000050 [ SRS ]    AC_000050 [ ENTREZ ]
RefSeq	AC_000068 [ SRS ]    AC_000068 [ ENTREZ ]
RefSeq	AC_000139 [ SRS ]    AC_000139 [ ENTREZ ]
RefSeq	NC_000007 [ SRS ]    NC_000007 [ ENTREZ ]
RefSeq	NT_007741 [ SRS ]    NT_007741 [ ENTREZ ]
RefSeq	NT_079596 [ SRS ]    NT_079596 [ ENTREZ ]
RefSeq	NW_001839100 [ SRS ]    NW_001839100 [ ENTREZ ]
RefSeq	NW_923796 [ SRS ]    NW_923796 [ ENTREZ ]
AceView	MNX1 AceView - NCBI
Unigene	Hs.37035 [ SRS ]    Hs.37035 [ NCBI ]     HS37035 [ spliceNest ]
Fast-db	13407 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P50219 [ SRS]    P50219 [ EXPASY ]     P50219 [ INTERPRO ]
Prosite	PS00027 HOMEOBOX_1 [ SRS ]    PS00027 HOMEOBOX_1 [ Expasy ]
Prosite	PS50071 HOMEOBOX_2 [ SRS ]    PS50071 HOMEOBOX_2 [ Expasy ]
Interpro	IPR001356 Homeobox [ SRS ]    IPR001356 Homeobox [ EBI ]
Interpro	IPR012287 Homeodomain-rel [ SRS ]    IPR012287 Homeodomain-rel [ EBI ]
CluSTr	P50219
Pfam	PF00046 Homeobox [ SRS ]    PF00046 Homeobox [ Sanger ]    pfam00046 [ NCBI-CDD ]
Smart	SM00389 HOX [EMBL]
Prodom	PD000010 Homeobox[INRA-Toulouse]
Prodom	P50219 MNX1_HUMAN [ Domain structure ]   P50219 MNX1_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	P50219
PDB	MNX1 [ SRS ]    MNX1 [ PdbSum ],   MNX1 [ IMB ]   MNX1 [ RSDB ]
HPRD	00874
	Protein Interaction databases
DIP	P50219
IntAct	P50219
	Polymorphism : SNP, mutations, diseases
OMIM	142994;176450    [ map ]
GENECLINICS	142994;176450
SNP	MNX1 [dbSNP-NCBI]
SNP	NM_005515 [SNP-NCI]
SNP	MNX1 [GeneSNPs - Utah]  MNX1] [HGBASE - SRS]
HAPMAP	MNX1 [HAPMAP]
COSMIC	MNX1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	MNX1
	General knowledge
Family Browser	MNX1 [UCSC Family Browser]
SOURCE	NM_005515
SMD	Hs.37035
SAGE	Hs.37035
GO	transcription factor activity [Amigo]  transcription factor activity
GO	RNA polymerase II transcription factor activity [Amigo]  RNA polymerase II transcription factor activity
GO	nucleus [Amigo]  nucleus
GO	regulation of transcription from RNA polymerase II promoter [Amigo]  regulation of transcription from RNA polymerase II promoter
GO	humoral immune response [Amigo]  humoral immune response
GO	anatomical structure morphogenesis [Amigo]  anatomical structure morphogenesis
GO	nerve development [Amigo]  nerve development
GO	neuron differentiation [Amigo]  neuron differentiation
GO	sequence-specific DNA binding [Amigo]  sequence-specific DNA binding
KEGG	Maturity onset diabetes of the young
PubGene	MNX1
TreeFam	MNX1
CTD	3110 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	MNX1 Related clones (RZPD - Berlin)
	PubMed
PubMed	17 Pubmed reference(s) in LocusLink

Bibliography

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

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

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	12-2003	Anne RM von Bergh, H Berna Beverloo

Citation

This paper should be referenced as such :

von Bergh ARM, Beverloo HB . HLXB9 (homeo box HB9). Atlas Genet Cytogenet Oncol Haematol. December 2003 . URL : http://AtlasGeneticsOncology.org/Genes/HLXB9ID393.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Jul 14 17:45:16 2008