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MNX1 Gene(Protein Coding)

Motor Neuron And Pancreas Homeobox 1

GCID:
GC07M156994
GIFtS:
50
Genes Participants
UDN Logo

Aliases for MNX1 Gene

Aliases for MNX1 Gene

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

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 Anorectal Anomalies. 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. An important paralog of this gene is NKX1-1.

UniProtKB/Swiss-Prot for MNX1 Gene

  • Putative transcription factor involved in pancreas development and function.

Gene Wiki entry for MNX1 Gene

Additional gene information for MNX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MNX1 Gene

Genomics for MNX1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MNX1 Gene

Promoters and enhancers for MNX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07I157005 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 566.6 +1.9 1859 5.8 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF766 ZNF213 ZNF207 MNX1 GC07M157007 NOM1 MNX1-AS1 MNX1-AS2
GH07I157011 Enhancer 1 ENCODE dbSUPER 557.2 -1.2 -1209 0.2 ELF3 FOXA2 ARID4B ZNF76 SIN3A FEZF1 RARA ZNF335 ZSCAN5C CREM MNX1 MNX1-AS1 ENSG00000236102
GH07I157158 Enhancer 0.6 Ensembl ENCODE 11.1 -148.1 -148073 1.4 ZNF316 SP7 MNX1 MNX1-AS1 MNX1-AS2 GC07M157142 UBE3C GC07P157194 GC07P157193
GH07I156931 Enhancer 0.6 ENCODE 10.7 +78.5 78529 1.8 SOX13 PKNOX1 JUN FOXA1 MITF SP1 ZNF366 SCRT2 PRDM1 TRIM28 MNX1-AS2 MNX1-AS1 MNX1 NOM1 LMBR1 LOC105375604 LOC102723795
GH07I156829 Enhancer 0.6 ENCODE 10 +180.8 180771 0.2 SMARCE1 GATAD2B DPF2 CEBPG FOXA1 ZNF217 CTBP1 GATA3 FOS SETDB1 MNX1-AS2 MNX1-AS1 MNX1 GC07P156873 LMBR1 GC07M156670
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MNX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MNX1 gene promoter:

Genomic Locations for MNX1 Gene

Genomic Locations for MNX1 Gene
chr7:156,994,051-157,010,653
(GRCh38/hg38)
Size:
16,603 bases
Orientation:
Minus strand
chr7:156,786,745-156,803,347
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for MNX1 Gene

Proteins for MNX1 Gene

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  • 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

Protein Expression for MNX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MNX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MNX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MNX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MNX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MNX1 Gene

Function for MNX1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0003700 DNA binding transcription factor activity TAS 9843207
GO:0043565 sequence-specific DNA binding IEA --
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:

Animal Model Products

Clone Products

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

Nucleus.

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

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA --
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

1 KEGG pathway 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 9843207
GO:0006959 humoral immune response TAS 7914194
GO:0009653 anatomical structure morphogenesis TAS 9843207
genes like me logo Genes that share ontologies with MNX1: view

Drugs & Compounds for MNX1 Gene

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MNX1 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MNX1 Gene

Motor neuron and pancreas homeobox 1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for MNX1 Gene

GeneLoc Exon Structure for
MNX1
ECgene alternative splicing isoforms for
MNX1

Expression for MNX1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MNX1 Gene
mRNA expression by GTEx for MNX1 GenemRNA expression by BioGPS 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, PaxDb, MaxQB, and MOPED for MNX1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MNX1 Gene:

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)

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

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 33 34
  • 96.73 (n)
cow
(Bos Taurus)
 Mammalia MNX1 33 34
  • 88.3 (n)
dog
(Canis familiaris)
 Mammalia MNX1 33 34
  • 86.03 (n)
mouse
(Mus musculus)
 Mammalia Mnx1 33 16 34
  • 82.33 (n)
rat
(Rattus norvegicus)
 Mammalia Mnx1 33
  • 82.29 (n)
oppossum
(Monodelphis domestica)
 Mammalia MNX1 34
  • 79 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MNX1 34
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MNX1 33 34
  • 84.23 (n)
lizard
(Anolis carolinensis)
 Reptilia MNX1 34
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mnx1 33
  • 73.3 (n)
African clawed frog
(Xenopus laevis)
 Amphibia hlxb9-A 33
zebrafish
(Danio rerio)
 Actinopterygii mnx1 33 34
  • 66.67 (n)
fruit fly
(Drosophila melanogaster)
 Insecta exex 34
  • 20 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 26 (a)
 OneToOne
Species where no ortholog for MNX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MNX1 Gene

Paralogs for MNX1 Gene

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

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

Variants for MNX1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MNX1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs121912546 pathogenic, Currarino triad 157,006,556(-) G/A coding_sequence_variant, stop_gained
rs121912547 pathogenic, Currarino triad 157,009,859(-) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, synonymous_variant, upstream_transcript_variant
rs121912548 pathogenic, Currarino triad, Currarino syndrome (CURRAS) [MIM:176450] 157,006,595(-) T/A coding_sequence_variant, missense_variant
rs121912549 pathogenic, Currarino triad 157,006,487(-) C/A coding_sequence_variant, stop_gained
VAR_017874 Currarino syndrome (CURRAS) [MIM:176450] p.Arg245Gly

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MNX1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for MNX1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
currarino syndrome
  • currarino triad
anorectal anomalies
meningocele
  • spinal meningocele
sacrococcygeal teratoma
oeis complex
  • omphalocele-exstrophy-imperforate anus-spinal defects
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for MNX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MNX1: view

No data available for Genatlas for MNX1 Gene

Publications for MNX1 Gene

  1. MNX1 (HLXB9) mutations in Currarino patients. (PMID: 19853743) Garcia-Barceló MM … Tam PK (Journal of pediatric surgery 2009) 3 4 22 58
  2. 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 58
  3. 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 58
  4. 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 58
  5. 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 58

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Sources for MNX1 Gene

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