KASH5 Gene

Name KASH domain containing 5
Description 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, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KASH5 is a meiosis‐specific KASH‐domain protein that localizes to the outer nuclear membrane and functions as a critical component of the LINC (linker of nucleoskeleton and cytoskeleton) complex. By directly interacting with SUN proteins (such as SUN1 and SUN2) at the inner nuclear membrane, KASH5 bridges telomeres of meiotic chromosomes to cytoplasmic dynein motors. This connection is essential for driving the telomere‐led chromosome movements that underlie bouquet formation, homolog pairing, synapsis, and proper recombination during meiotic prophase I."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, studies in oocytes indicate that KASH5, together with SUN1, is crucial for spindle formation and meiotic resumption, underscoring its broader role in gametogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Notably, a pathogenic mutation (L535Q) within the transmembrane domain of KASH5—altering its hydrophobicity—leads to its mislocalization from the nuclear envelope to the mitochondrial membrane and is associated with male infertility and azoospermia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Overall, KASH5 is indispensable for mediating the force transmission from the cytoskeleton to the nuclear envelope during meiosis, ensuring proper telomere attachment and dynamic chromosome movements that are critical for homologous recombination and fertility.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jana Link, Monika Leubner, Johannes Schmitt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of meiosis in SUN1 deficient mice reveals a distinct role of SUN2 in mammalian meiotic LINC complex formation and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1004099"}], "href": "https://doi.org/10.1371/journal.pgen.1004099"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24586178"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24586178"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Alberto Viera, Manfred Alsheimer, Rocío Gómez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CDK2 regulates nuclear envelope protein dynamics and telomere attachment in mouse meiotic prophase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.154922"}], "href": "https://doi.org/10.1242/jcs.154922"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25380821"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25380821"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kayoko Fujimoto-Ibusuki, Yohei Yamada, Takeshi Hirai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Perioperative Management of Elderly Patients Over 90 Years of Age with Femoral Neck/Trochanteric Fracture]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Masui (2015)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26742404"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26742404"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sana A Bentebbal, Bakhita R Meqbel, Anna Salter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A human infertility-associated KASH5 variant promotes mitochondrial localization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-021-89439-2"}], "href": "https://doi.org/10.1038/s41598-021-89439-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33980926"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33980926"}]}]}]}
NCBI Gene ID 147872
API
Download Associations
Predicted Functions View KASH5's ARCHS4 Predicted Functions.
Co-expressed Genes View KASH5's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View KASH5's ARCHS4 Predicted Functions.

Functional Associations

KASH5 has 1,328 functional associations with biological entities spanning 6 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 19 datasets.

Click the + buttons to view associations for KASH5 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KASH5 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with KASH5 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of KASH5 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing KASH5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing KASH5 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with KASH5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving KASH5 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing KASH5 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of KASH5 gene from the GTEx eQTL 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by KASH5 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of KASH5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of KASH5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of KASH5 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of KASH5 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of KASH5 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of KASH5 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of KASH5 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with KASH5 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving KASH5 protein from the WikiPathways Pathways 2024 dataset.