MNX1 (homeo box HB9)

2003-12-01   Anne RM von Bergh  , H Berna Beverloo  

Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

Identity

HGNC
MNX1
LOCATION
7q36.3
LOCUSID
3110
ALIAS
HB9,HLXB9,HOXHB9,SCRA1
FUSION GENES
Show Gene Fusions

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.

Proteins

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 name
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 gene
5 HLXB9 _ 3 ETV6
Atlas Image
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.
Fusion 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.

Article Bibliography

Pubmed IDLast YearTitleAuthors
114546782001Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13).Beverloo HB et al
79141941994A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues.Harrison KA et al
98432071998A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.Ross AJ et al

Other Information

Locus ID:

NCBI: 3110
MIM: 142994
HGNC: 4979
Ensembl: ENSG00000130675

Variants:

dbSNP: 3110
ClinVar: 3110
TCGA: ENSG00000130675
COSMIC: MNX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130675ENST00000252971P50219
ENSG00000130675ENST00000425745C9JFT4
ENSG00000130675ENST00000428439C9K088
ENSG00000130675ENST00000469500S4R464
ENSG00000130675ENST00000474448S4R364
ENSG00000130675ENST00000479817S4R3G1
ENSG00000130675ENST00000543409P50219

Expression (GTEx)

0
1
2
3
4
5
6
7
8
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950

References

Pubmed IDYearTitleCitations
373178782024Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric acute myeloid leukemia induces the disease through altering histone methylation.3
373178782024Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric acute myeloid leukemia induces the disease through altering histone methylation.3
349539152022MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages.11
355839912022An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages.6
364290062022Pan-Cancer Analysis Identifies MNX1 and Associated Antisense Transcripts as Biomarkers for Cancer.0
349539152022MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages.11
355839912022An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages.6
364290062022Pan-Cancer Analysis Identifies MNX1 and Associated Antisense Transcripts as Biomarkers for Cancer.0
335900382021Long noncoding RNA MNX1-AS1 functions as a competing endogenous RNA to regulate epithelial-mesenchymal transition by sponging MiR-744-5p in colorectal cancer.2
336021412021Global transcriptome profile of the developmental principles of in vitro iPSC-to-motor neuron differentiation.17
336501522021Presacral neuroendocrine tumors associated with the Currarino syndrome.1
335900382021Long noncoding RNA MNX1-AS1 functions as a competing endogenous RNA to regulate epithelial-mesenchymal transition by sponging MiR-744-5p in colorectal cancer.2
336021412021Global transcriptome profile of the developmental principles of in vitro iPSC-to-motor neuron differentiation.17
336501522021Presacral neuroendocrine tumors associated with the Currarino syndrome.1
325714252020Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.4

Citation

Anne RM von Bergh ; H Berna Beverloo

MNX1 (homeo box HB9)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/393/mnx1-(homeo-box-hb9)