Gene
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142994 4979 ENSG00000130675
Protein
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.
  KEGG  
  Maturity onset diabetes of the young  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Currarino triad Currarino triad rs121912546, rs121912547, rs1563700090, rs1563700419, rs121912548, rs121912549, rs1554594329 16906559, 22820079, 7550324, 23562494, 23370340, 10749657, 19853743, 10631160
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent, Neonatal diabetes mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
30718926, 23562494
Vesicoureteral reflux Vesico-Ureteral Reflux rs587777684, rs148731211
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Dementia Dementia GWAS
Gastroparesis Gastroparesis GWAS
Associations from Text Mining
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