KASH5 (KASH domain containing 5)

2015-02-01 Affiliation

Identity

HGNC

KASH5

LOCATION

19q13.33

LOCUSID

147872

ALIAS

CCDC155

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000161609	ENST00000447857	Q8N6L0
ENSG00000161609	ENST00000594043	M0QXW9
ENSG00000161609	ENST00000594905	M0QX09
ENSG00000161609	ENST00000595828	M0R1C7
ENSG00000161609	ENST00000597993	M0QZT9
ENSG00000161609	ENST00000598730	M0QXT3
ENSG00000161609	ENST00000600570	M0QZW6

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)