Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 147872
MIM: 618125
HGNC: 26520
Ensembl: ENSG00000161609
Variants:
dbSNP: 147872
ClinVar: 147872
TCGA: ENSG00000161609
COSMIC: KASH5
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36864840 | 2023 | A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans. | 4 |
| 36864840 | 2023 | A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans. | 4 |
| 35587281 | 2022 | Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans. | 5 |
| 35674372 | 2022 | Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia. | 6 |
| 35708642 | 2022 | Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing. | 3 |
| 35587281 | 2022 | Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans. | 5 |
| 35674372 | 2022 | Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia. | 6 |
| 35708642 | 2022 | Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing. | 3 |
| 33980926 | 2021 | A human infertility-associated KASH5 variant promotes mitochondrial localization. | 3 |
| 33980926 | 2021 | A human infertility-associated KASH5 variant promotes mitochondrial localization. | 3 |
| 33058875 | 2020 | Structural Analysis of Different LINC Complexes Reveals Distinct Binding Modes. | 12 |
| 33058875 | 2020 | Structural Analysis of Different LINC Complexes Reveals Distinct Binding Modes. | 12 |
Citation
Dessen P
KASH5 (KASH domain containing 5)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/54973/kash5-(kash-domain-containing-5)
