MNX1 (motor neuron and pancreas homeobox 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3110
Gene name Gene Name - the full gene name approved by the HGNC.
Motor neuron and pancreas homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MNX1
Synonyms (NCBI Gene) Gene synonyms aliases
HB9, HLXB9, HOXHB9, SCRA1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.3
Summary Summary of gene provided in NCBI Entrez 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 dif
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(139)
miRTarBase ID miRNA Experiments Reference
MIRT027276 hsa-miR-101-3p Sequencing 20371350
MIRT506572 hsa-miR-338-3p PAR-CLIP 20371350
MIRT027276 hsa-miR-101-3p PAR-CLIP 20371350
MIRT506571 hsa-miR-548u PAR-CLIP 20371350
MIRT506570 hsa-miR-7161-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142994 4979 ENSG00000130675
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P50219
Protein name Motor neuron and pancreas homeobox protein 1 (Homeobox protein HB9)
Protein function Transcription factor (By similarity). Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription (By similarity). Plays a role in establishing motor neuron identity,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 242 → 298 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in lymphoid and pancreatic tissues.
Sequence 
MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSP
ASSEPPAAPADRLRAESPSPPRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPG
AAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYGHPVYGYSAAAAAAALAGQHP
ALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGK
CRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSK
KAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDE
DEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAPQ
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Maturity onset diabetes of the young  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Currarino Triad currarino triad rs1563700090, rs1563700419, rs121912548, rs121912549, rs1554594329, rs121912546, rs121912547 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Gastroparesis Gastroparesis N/A N/A GWAS
Show/Hide Text Mining Associations (41)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35237359
Breast Neoplasms Inhibit 35697697
Breast Neoplasms Associate 38203393
Carcinogenesis Associate 15161049
Carcinoma Hepatocellular Stimulate 21484430
Carcinoma Hepatocellular Associate 36476366
Carcinoma Intraductal Noninfiltrating Associate 35697697
Carcinoma Ovarian Epithelial Associate 29271994, 29678219
Cell Transformation Neoplastic Associate 36476366
Cerulean cataract Associate 35583991