KASH5 Chromosome 19
KASH domain containing 5
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What This Gene Does
Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cytoskeleton organization; homologous chromosome segregation; and spindle localization. Predicted to act upstream of or within several processes, including double-strand break repair via homologous recombination; meiotic telomere clustering; and spermatogenesis. Predicted to be located in chromosome; membrane; and nuclear envelope. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in chromosome; meiotic spindle pole; and nuclear outer membrane. Implicated in primary ovarian insufficiency and spermatogenic failure 88. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
KASH domain containing
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000161609
Associated Conditions (5)
Genetic non-acquired premature ovarian failure
Premature ovarian failure 22
Hepatocellular carcinoma
Spermatogenic failure 88
Azoospermia
Key Variants
RS200723797
Likely pathogenic
Genetic non-acquired premature ovarian failure, Premature ovarian failure 22, Hepatocellular carcinoma
Health Risk
RS1215223498
Pathogenic
Premature ovarian failure 22, Spermatogenic failure 88, Premature ovarian failure 22
Health Risk
RS1439365177
Pathogenic
Spermatogenic failure 88, Spermatogenic failure 88
Health Risk
RS188572864
Pathogenic
Azoospermia, Azoospermia
Health Risk
RS2513815325
Pathogenic
Spermatogenic failure 88, Premature ovarian failure 22, Spermatogenic failure 88
Health Risk
RS2513846060
Pathogenic
Spermatogenic failure 88, Spermatogenic failure 88
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200723797 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Premature ovarian failure 22, Hepatocellular carcinoma |
| RS1215223498 | Health Risk | Pathogenic | Premature ovarian failure 22, Spermatogenic failure 88, Premature ovarian failure 22 |
| RS1439365177 | Health Risk | Pathogenic | Spermatogenic failure 88, Spermatogenic failure 88 |
| RS188572864 | Health Risk | Pathogenic | Azoospermia, Azoospermia |
| RS2513815325 | Health Risk | Pathogenic | Spermatogenic failure 88, Premature ovarian failure 22, Spermatogenic failure 88 |
| RS2513846060 | Health Risk | Pathogenic | Spermatogenic failure 88, Spermatogenic failure 88 |