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FLASH GENE

Symbol

MNX1

contributors: mct/npt - updated : 14-04-2015

HGNC name	motor neuron and pancreas homeobox 1
HGNC id	4979

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL7Q36 chromosome 7q36 terminal deletion SCRA Currarino syndrome
Location	7q36.3      Physical location : 156.797.546 - 156.803.347
Synonym name	homeo box HB9
	sacral agenesis, autosomal dominant (Currarino triad)
Synonym symbol(s)	HLXB9, HB9, HOXHB9, SCRA, HOXHB9, SAAG

DNA

TYPE	functioning gene
STRUCTURE	5.80 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005515 3 - 2176 NP_005506 - 401 - 2012 23048027 NM_001165255 3 - 1620 NP_001158727 - 189 - 2012 23048027

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol digestive esophagus         Digestive intestine small intestine         pharynx           stomach         Endocrine pancreas         nervous brain spinal cord anterior horn     Reproductive male system prostate     moderately Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic tonsils       Epithelial secretory glandular endocrine   Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	sacral region during embryogenesis, anterior spinal horn, basal plate

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	polyalanine repeat region
	a highly conserved domain of unknown functions
	a helix-turn-helix, DNA binding domain
	a nuclear localization signal (NLS) within the homeobox

HOMOLOGY

interspecies	homolog to Drosophila proboscipedia (distantly)
	homolog to murine Hlxb9

Homologene

FAMILY

homeobox domain protein family (non HOX)

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	regulating gene transcription in lymphoid and pancreatic tissues
	implicated in the development of both solid and hematological malignancies
	may have a dual role in childhood leukemia, as an oncogene in infant AML but as a tumor suppressor in childhood ALL
	is an important factor for beta-cell proliferation and insulin regulation
	role for MNX1 in human pancreatic beta-cell development
	key role in development of the human pancreas

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacts with MEN1 and reduces cell proliferation and causes apoptosis in the presence of menin, and it regulates genes that modulate insulin level

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCRA , DEL7Q36

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with ETV6 in t(7;12)(q36;p13) in myeloid malignancy with poor prognosis constitutional germinal mutation       causes neonatal diabetes

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS