KASH5 (KASH domain containing 5)

Gene

• Entrez ID: 147872
• Gene name: KASH domain containing 5
• Gene symbol: KASH5
• Synonyms (NCBI Gene): CCDC155, POF22, SPGF88
• Chromosome: 19
• Chromosome location: 19q13.33

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000781	Component	Chromosome, telomeric region	IBA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0000800	Component	Lateral element	IBA
GO:0000800	Component	Lateral element	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 27107012, 32296183, 33058875, 33393904
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005640	Component	Nuclear outer membrane	IBA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005694	Component	Chromosome	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0034397	Process	Telomere localization	IBA
GO:0034397	Process	Telomere localization	IEA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IBA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045141	Process	Meiotic telomere clustering	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051225	Process	Spindle assembly	IBA
GO:0051225	Process	Spindle assembly	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051653	Process	Spindle localization	IBA
GO:0051653	Process	Spindle localization	IEA
GO:0070840	Function	Dynein complex binding	IBA
GO:0070840	Function	Dynein complex binding	IEA
GO:0090220	Process	Chromosome localization to nuclear envelope involved in homologous chromosome segregation	IBA
GO:0090220	Process	Chromosome localization to nuclear envelope involved in homologous chromosome segregation	IEA
GO:0090619	Component	Meiotic spindle pole	IBA
GO:0090619	Component	Meiotic spindle pole	IEA

Other IDs

• MIM: 618125
• HGNC: 26520
• e!Ensembl: ENSG00000161609

Protein

• UniProt ID: Q8N6L0
• Protein name: Protein KASH5 (Coiled-coil domain-containing protein 155) (KASH domain-containing protein 5)
• Protein function: As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role
• PDB: 6R2I, 6WMF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14658	EF-hand_9	38 → 105	EF-hand domain	Domain
  PF14662	KASH_CCD	157 → 347	Coiled-coil region of CCDC155 or KASH	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis (at protein level). {ECO:0000269|PubMed:35587281, ECO:0000269|PubMed:35674372}.
• Sequence:

  MDLPEGPVGGPTAEMYLRERPEEARLGMPVSLEEQILNSTFEACDPQRTGTVAVAQVLAY
  LEAVTGQGPQDARLQTLANSLDPNGEGPKATVDLDTFLVVMRDWIAACQLHGGLELEEET
  AFQGALTSRQLPSGCPEAEEPANLESFGGEDPRPELQATADLLSSLEDLELSNRRLVGEN
  AKLQRSMETAEEGSARLGEEILALRKQLHSTQQALQFAKAMDEELEDLKTLARSLEEQNR
  SLLAQARQAEKEQQHLVAEMETLQEENGKLLAERDGVKKRSQELAMEKDTLKRQLFECEH
  LICQRDTILSERTRDVESLAQTLEEYRVTTQELRLEISRLEEQLSQTYEGPDELPEGAQL
  RRVGWTELLPPSLGLEIEAIRQKQEVATADLSNPLCGVWQWEEVIHETSEETEFPSEAPA
  GGQRNFQGEPAHPEEGRKEPSMWLTRREEEEDAESQVTADLPVPLGAPRPGDIPENPPER
  PARRELQQALVPVMKKLVPVRRRAWGQLCLPPQRLRVTRHPLIPAPVLGLLLLLLLSVLL
  LGPSPPPTWPHLQLCYLQPPPV

• Sequence length: 562

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Azoospermia	Pathogenic	rs188572864	RCV001797572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic non-acquired premature ovarian failure	Likely pathogenic	rs200723797	RCV001620130	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs200723797	RCV005918071	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 22	Likely pathogenic; Pathogenic	rs200723797, rs2513815325, rs1215223498	RCV003382633 RCV003384303 RCV003384307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 88	Pathogenic	rs1439365177, rs2513815325, rs2513846060, rs1215223498	RCV003384301 RCV003384302 RCV003384304 RCV003384306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
KASH5-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	33980926, 36864840	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	29790874	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	33980926	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	33980926	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29141850		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	36864840	Associate	★☆☆☆☆ Found in Text Mining only