This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] See more...

Aliases for MNX1 Gene

Aliases for MNX1 Gene

  • Motor Neuron And Pancreas Homeobox 1 2 3 5
  • Motor Neuron And Pancreas Homeobox Protein 1 3 4
  • Homeobox Protein HB9 3 4
  • Homeobox HB9 2 3
  • HOXHB9 2 3
  • HLXB9 3 4
  • SCRA1 2 3
  • HB9 2 3
  • Homeo Box HB9 2
  • MNX1 5

External Ids for MNX1 Gene

Previous HGNC Symbols for MNX1 Gene

  • HLXB9

Previous GeneCards Identifiers for MNX1 Gene

  • GC07M156491
  • GC07M156786
  • GC07M150530

Summaries for MNX1 Gene

Entrez Gene Summary for MNX1 Gene

  • This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for MNX1 Gene

MNX1 (Motor Neuron And Pancreas Homeobox 1) is a Protein Coding gene. Diseases associated with MNX1 include Currarino Syndrome and Meningocele. Among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary for MNX1 Gene

  • Putative transcription factor involved in pancreas development and function.

Gene Wiki entry for MNX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MNX1 Gene

Genomics for MNX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MNX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MNX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MNX1

Top Transcription factor binding sites by QIAGEN in the MNX1 gene promoter:
  • AML1a
  • FOXF2
  • GATA-1
  • GATA-3
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • STAT3

Genomic Locations for MNX1 Gene

Latest Assembly
chr7:156,994,051-157,010,663
(GRCh38/hg38)
Size:
16,613 bases
Orientation:
Minus strand

Previous Assembly
chr7:156,797,548-156,803,357
(GRCh37/hg19 by Entrez Gene)
Size:
5,810 bases
Orientation:
Minus strand

chr7:156,786,745-156,803,345
(GRCh37/hg19 by Ensembl)
Size:
16,601 bases
Orientation:
Minus strand

Genomic View for MNX1 Gene

Genes around MNX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MNX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MNX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MNX1 Gene

Proteins for MNX1 Gene

  • Protein details for MNX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50219-MNX1_HUMAN
    Recommended name:
    Motor neuron and pancreas homeobox protein 1
    Protein Accession:
    P50219
    Secondary Accessions:
    • F5H401
    • Q9Y648

    Protein attributes for MNX1 Gene

    Size:
    401 amino acids
    Molecular mass:
    40569 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MNX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MNX1 Gene

Post-translational modifications for MNX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for MNX1

No data available for DME Specific Peptides for MNX1 Gene

Domains & Families for MNX1 Gene

Gene Families for MNX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MNX1 Gene

Suggested Antigen Peptide Sequences for MNX1 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein HB9 (MNX1_HUMAN)
genes like me logo Genes that share domains with MNX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MNX1 Gene

Function for MNX1 Gene

Molecular function for MNX1 Gene

UniProtKB/Swiss-Prot Function:
Putative transcription factor involved in pancreas development and function.

Phenotypes From GWAS Catalog for MNX1 Gene

Gene Ontology (GO) - Molecular Function for MNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:1990837 sequence-specific double-stranded DNA binding IBA,IDA 28473536
genes like me logo Genes that share ontologies with MNX1: view
genes like me logo Genes that share phenotypes with MNX1: view

Human Phenotype Ontology for MNX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MNX1 Gene

MGI Knock Outs for MNX1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MNX1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MNX1 Gene

Localization for MNX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MNX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MNX1 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MNX1: view

Pathways & Interactions for MNX1 Gene

genes like me logo Genes that share pathways with MNX1: view

Pathways by source for MNX1 Gene

SIGNOR curated interactions for MNX1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007417 central nervous system development IBA 21873635
GO:0021520 spinal cord motor neuron cell fate specification IBA 21873635
GO:0031018 endocrine pancreas development IBA 21873635
genes like me logo Genes that share ontologies with MNX1: view

Drugs & Compounds for MNX1 Gene

(1) Drugs for MNX1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MNX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MNX1: view

Transcripts for MNX1 Gene

mRNA/cDNA for MNX1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MNX1

Alternative Splicing Database (ASD) splice patterns (SP) for MNX1 Gene

No ASD Table

Relevant External Links for MNX1 Gene

GeneLoc Exon Structure for
MNX1

Expression for MNX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MNX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MNX1 Gene

This gene is overexpressed in Pancreas (x24.8), Colon - Transverse (x6.1), and Small Intestine - Terminal Ileum (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MNX1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MNX1

SOURCE GeneReport for Unigene cluster for MNX1 Gene:

Hs.37035

mRNA Expression by UniProt/SwissProt for MNX1 Gene:

P50219-MNX1_HUMAN
Tissue specificity: Expressed in lymphoid and pancreatic tissues.

Evidence on tissue expression from TISSUES for MNX1 Gene

  • Pancreas(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MNX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • meninges
  • neck
Thorax:
  • esophagus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • prostate
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MNX1: view

Primer products for research

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for MNX1 Gene

Orthologs for MNX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MNX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MNX1 29 30
  • 96.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MNX1 29 30
  • 88.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MNX1 29 30
  • 86.03 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mnx1 29 16 30
  • 82.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mnx1 29
  • 82.29 (n)
Oppossum
(Monodelphis domestica)
Mammalia MNX1 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MNX1 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MNX1 29 30
  • 84.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MNX1 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mnx1 29
  • 73.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia hlxb9-A 29
Zebrafish
(Danio rerio)
Actinopterygii mnx1 29 30
  • 66.67 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta exex 30
  • 20 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 26 (a)
OneToOne
Species where no ortholog for MNX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MNX1 Gene

ENSEMBL:
Gene Tree for MNX1 (if available)
TreeFam:
Gene Tree for MNX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MNX1: view image
Alliance of Genome Resources:
Additional Orthologs for MNX1

Paralogs for MNX1 Gene

(29) SIMAP similar genes for MNX1 Gene using alignment to 6 proteins:

  • MNX1_HUMAN
  • C9JFT4_HUMAN
  • C9K088_HUMAN
  • S4R364_HUMAN
  • S4R3G1_HUMAN
  • S4R464_HUMAN
genes like me logo Genes that share paralogs with MNX1: view

No data available for Paralogs for MNX1 Gene

Variants for MNX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MNX1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1047679 Uncertain Significance: not provided 157,009,842(-) G/C
NM_005515.4(MNX1):c.509C>G (p.Ala170Gly)
MISSENSE
rs1064794653 Conflicting Interpretations: Inborn genetic diseases; not provided 157,005,841(-) T/G
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn)
MISSENSE
rs1064796665 Likely Pathogenic: not provided 157,006,519(-) CG/C
NM_005515.4(MNX1):c.811del (p.Arg271fs)
FRAMESHIFT
rs121912546 Pathogenic: Currarino triad 157,006,556(-) G/A
NM_005515.4(MNX1):c.775C>T (p.Gln259Ter)
NONSENSE
rs121912547 Pathogenic: Currarino triad 157,009,859(-) G/T
NM_005515.4(MNX1):c.492C>A (p.Tyr164Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MNX1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MNX1 Gene

Variant ID Type Subtype PubMed ID
dgv1150n67 CNV gain 20364138
nsv1126822 CNV deletion 24896259
nsv465249 CNV loss 19166990
nsv6022 CNV insertion 18451855
nsv609210 CNV loss 21841781
nsv824418 CNV gain 20364138
nsv951667 CNV deletion 24416366

Variation tolerance for MNX1 Gene

Gene Damage Index Score: 0.65; 13.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MNX1 Gene

Human Gene Mutation Database (HGMD)
MNX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MNX1
Leiden Open Variation Database (LOVD)
MNX1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MNX1 Gene

Disorders for MNX1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for MNX1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
currarino syndrome
  • currarino triad
meningocele
  • spinal meningocele
teratoma
  • teratomas
oeis complex
  • omphalocele-exstrophy-imperforate anus-spinal defects
bladder exstrophy
  • exstrophy of the bladder
- elite association - COSMIC cancer census association via MalaCards
Search MNX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MNX1_HUMAN
  • Currarino syndrome (CURRAS) [MIM:176450]: The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait. {ECO:0000269 PubMed:10631160, ECO:0000269 PubMed:10749657, ECO:0000269 PubMed:19853743, ECO:0000269 PubMed:22820079}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MNX1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MNX1: view

No data available for Genatlas for MNX1 Gene

Publications for MNX1 Gene

  1. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. (PMID: 9843207) Ross AJ … Strachan T (Nature genetics 1998) 2 3 22 72
  2. Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype. (PMID: 22820079) Markljung E … Nordenskjöld A (Gene 2012) 3 4 72
  3. MNX1 (HLXB9) mutations in Currarino patients. (PMID: 19853743) Garcia-Barceló MM … Tam PK (Journal of pediatric surgery 2009) 3 4 22
  4. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. (PMID: 10749657) Hagan DM … Homfray T (American journal of human genetics 2000) 3 4 22
  5. A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. (PMID: 7914194) Harrison KA … Kehrl JH (The Journal of biological chemistry 1994) 3 4 22

Products for MNX1 Gene

Sources for MNX1 Gene