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The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]
ACTRT2 (Actin Related Protein T2) is a Protein Coding gene. Diseases associated with ACTRT2 include Chromosome 1P36 Deletion Syndrome and Deafness, Autosomal Dominant 1. An important paralog of this gene is ACTRT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACTRT2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACTRT2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACTRT2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Actrt2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Actrt2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ACTRT2 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | actb 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Arp53D 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs3795263 | - | p.Gly247Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv11n100 | CNV | gain | 25217958 |
esv3583359 | CNV | gain | 25503493 |
esv3585036 | CNV | gain | 21293372 |
esv3585037 | CNV | gain | 21293372 |
nsv1013792 | CNV | gain | 25217958 |
nsv428399 | CNV | gain | 18775914 |
nsv470686 | CNV | loss | 18288195 |
nsv545098 | CNV | loss | 21841781 |
nsv829759 | CNV | loss | 17160897 |
nsv951958 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chromosome 1p36 deletion syndrome |
|
|
deafness, autosomal dominant 1 |
|
|
osteogenesis imperfecta, type i |
|
|