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This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
NEURL2 (Neuralized E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with NEURL2 include Galactosialidosis and Col4a1-Related Familial Vascular Leukoencephalopathy.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0061630 | ubiquitin protein ligase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0035556 | intracellular signal transduction | IEA | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NEURL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NEURL2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NEURL2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NEURL2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Neurl2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Neurl2 30 |
|
||
Chicken (Gallus gallus) |
Aves | NEURL2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NEURL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100494896 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:162187 30 |
|
||
NEURL2 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009070 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3894 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs116893852 | Likely Benign: Combined deficiency of sialidase AND beta galactosidase; not provided | 45,891,283(-) | G/T | NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs117529875 | Likely Benign: Combined deficiency of sialidase AND beta galactosidase; not provided | 45,891,103(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs184484066 | Likely Benign: Combined deficiency of sialidase AND beta galactosidase | 45,891,154(-) | A/C | NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs2868362 | Benign: Combined deficiency of sialidase AND beta galactosidase | 45,891,004(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs373024722 | Uncertain Significance: Combined deficiency of sialidase AND beta galactosidase | 45,891,274(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
galactosialidosis |
|
|
col4a1-related familial vascular leukoencephalopathy |
|
|
loeys-dietz syndrome 4 |
|
|