Gene: SPATA5

Alternate names for this Gene: AFG2|EHLMRS|SPAF

Gene Summary: This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4q28.1

Description of this Gene: spermatogenesis associated 5

Type of Gene: protein-coding

rs13103663 in SPATA5 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs303143 in SPATA5 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30706531 2019 Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

rs1263369560 in SPATA5 gene and EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME PMID 26299366 2015 Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

PMID 28293831 2017 Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

PMID 28513609 2017 Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.

PMID 27683084 2016 SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

PMID 27246907 2016 Characterization of SPATA5-related encephalopathy in early childhood.

rs9999118 in SPATA5 gene and Irritable Bowel Syndrome PMID 24797007 2014 Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.

rs186353960 in SPATA5 gene and Prostate carcinoma PMID 31095341 2020 Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

rs216101 in SPATA5 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.