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KASH5 (KASH Domain Containing 5) is a Protein Coding gene. Diseases associated with KASH5 include Spermatogenic Failure 16 and Muscular Dystrophy, Congenital, Lmna-Related. An important paralog of this gene is SSH2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0042802 | identical protein binding | IEA | -- |
GO:0070840 | dynein complex binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000781 | chromosome, telomeric region | ISS | -- |
GO:0000800 | lateral element | IEA,IBA | 21873635 |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005640 | nuclear outer membrane | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000724 | double-strand break repair via homologous recombination | IEA | -- |
GO:0007015 | actin filament organization | IEA,IBA | 21873635 |
GO:0007129 | synapsis | IEA,IBA | 21873635 |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0034397 | telomere localization | IEA,IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCDC155 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CCDC155 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCDC155 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ccdc155 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ccdc155 30 31 |
|
OneToOne | |
Kash5 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CCDC155 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CCDC155 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10405154 | - | p.Arg129Gln | |||
rs8102582 | - | p.Leu116Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv52n68 | CNV | loss | 17160897 |
esv2718713 | CNV | deletion | 23290073 |
esv2718714 | CNV | deletion | 23290073 |
esv3644623 | CNV | loss | 21293372 |
nsv138000 | CNV | insertion | 16902084 |
nsv953599 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spermatogenic failure 16 |
|
|
muscular dystrophy, congenital, lmna-related |
|
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