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This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
MEOX1 (Mesenchyme Homeobox 1) is a Protein Coding gene. Diseases associated with MEOX1 include Klippel-Feil Syndrome 2, Autosomal Recessive and Isolated Klippel-Feil Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is MEOX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003674 | molecular_function | ND | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001757 | somite specification | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | TAS | 7987315 |
GO:0008150 | biological_process | ND | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA | 21873635 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MEOX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MEOX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MEOX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Meox1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Meox1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MEOX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MEOX1 30 |
|
||
GGMOXR1 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | MEOX1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | meox1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | btn 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
707963 | Benign: not provided | 43,661,208(-) | C/G | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
708225 | Benign: not provided | 43,661,208(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
714734 | Likely Benign: not provided | 43,641,962(-) | T/C | MISSENSE_VARIANT,SYNONYMOUS_VARIANT | |
722853 | Likely Benign: not provided | 43,661,523(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
725045 | Likely Benign: not provided | 43,661,346(-) | T/C | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2715958 | CNV | deletion | 23290073 |
esv7256 | CNV | gain | 19470904 |
nsv1060861 | CNV | gain | 25217958 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv819106 | CNV | gain | 19587683 |
Disorder | Aliases | PubMed IDs |
---|---|---|
klippel-feil syndrome 2, autosomal recessive |
|
|
isolated klippel-feil syndrome |
|
|
klippel-feil syndrome |
|
|
spastic ataxia 8 |
|
|
diaphanospondylodysostosis |
|
|