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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]
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 Regulation of beta-cell development and Neural Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS | 9843207 |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of beta-cell development | ||
2 | Neural Stem Cells and Lineage-specific Markers |
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 | TAS | 9843207 |
GO:0006959 | humoral immune response | TAS | 7914194 |
GO:0007417 | central nervous system development | IBA | 21873635 |
GO:0009653 | anatomical structure morphogenesis | TAS | 9843207 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MNX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MNX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MNX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mnx1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mnx1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MNX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MNX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MNX1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MNX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mnx1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | hlxb9-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mnx1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | exex 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
817990 | Pathogenic: not provided | 157,010,233(-) | CAG/C | FRAMESHIFT_VARIANT | |
rs1064794653 | Likely Pathogenic: not provided | 157,005,841(-) | T/G | MISSENSE_VARIANT | |
rs1064796665 | Likely Pathogenic: not provided | 157,006,519(-) | CG/C | FRAMESHIFT_VARIANT | |
rs121912546 | Pathogenic: Currarino triad | 157,006,556(-) | G/A | NONSENSE | |
rs121912547 | Pathogenic: Currarino triad | 157,009,859(-) | G/T | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
currarino syndrome |
|
|
anorectal anomalies |
|
|
teratoma |
|
|
meningocele |
|
|
oeis complex |
|
|