Gene: SUN5

Alternate names for this Gene: SPAG4L|SPGF16|TSARG4|dJ726C3.1

Gene Summary: The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.21

Description of this Gene: Sad1 and UNC84 domain containing 5

Type of Gene: protein-coding

rs1133358 in SUN5 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs17123980 in SUN5 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs754130052 in SUN5 gene and SPERMATOGENIC FAILURE 16 PMID 28541472 2017 Homozygous deletion of SUN5 in three men with decapitated spermatozoa.

PMID 28945193 2017 Essential role for SUN5 in anchoring sperm head to the tail.

PMID 27640305 2016 Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

PMID 29298896 2018 Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.