Gene Gene information from NCBI Gene database.
Entrez ID 3110
Gene name Motor neuron and pancreas homeobox 1
Gene symbol MNX1
Synonyms (NCBI Gene)
HB9HLXB9HOXHB9SCRA1
Chromosome 7
Chromosome location 7q36.3
Summary 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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142994 4979 ENSG00000130675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  KEGG 
  Maturity onset diabetes of the young  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
75
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the vertebral column Likely pathogenic rs2537771120 RCV005235716
Currarino triad Likely pathogenic; Pathogenic rs2134838779, rs2134846165, rs2134838783, rs2134846330, rs2537780168, rs121912546, rs2537781329, rs121912547, rs1563700090, rs1563700419, rs121912548, rs121912549, rs1554594329 RCV002245297
RCV002250119
RCV002273111
RCV002273137
RCV000015975
RCV000015976
RCV000015977
RCV000015978
RCV000015980
RCV000015981
RCV000015982
RCV000015984
RCV000504393
MNX1-related disorder Likely pathogenic rs2537780127, rs2537773911, rs2537771120 RCV003402535
RCV003397530
RCV003420920
Associations from Text MiningDisease 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