Identity
HGNC
LOCATION
4q28.1
LOCUSID
ALIAS
AFG2,EHLMRS,SPAF
FUSION GENES
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: 166378
MIM: 613940
HGNC: 18119
Ensembl: ENSG00000145375
Variants:
dbSNP: 166378
ClinVar: 166378
TCGA: ENSG00000145375
COSMIC: SPATA5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000145375 | ENST00000274008 | Q8NB90 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Ribosome biogenesis in eukaryotes | KEGG | ko03008 |
| Ribosome biogenesis in eukaryotes | KEGG | hsa03008 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA450761 | paclitaxel | Chemical | MultilinkAnnotation | associated | 24444404 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35354024 | 2022 | Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly. | 13 |
| 35354024 | 2022 | Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly. | 13 |
| 33017352 | 2021 | A Genome-wide Association Study for Concussion Risk. | 4 |
| 33017352 | 2021 | A Genome-wide Association Study for Concussion Risk. | 4 |
| 31838782 | 2020 | Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility. | 20 |
| 31838782 | 2020 | Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility. | 20 |
| 28293831 | 2017 | Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. | 6 |
| 28293831 | 2017 | Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. | 6 |
| 27246907 | 2016 | Characterization of SPATA5-related encephalopathy in early childhood. | 13 |
| 27246907 | 2016 | Characterization of SPATA5-related encephalopathy in early childhood. | 13 |
| 26299366 | 2015 | Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. | 89 |
| 26299366 | 2015 | Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. | 89 |
| 22027810 | 2012 | Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. | 23 |
| 22027810 | 2012 | Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. | 23 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
SPATA5 (spermatogenesis associated 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74142/spata5-(spermatogenesis-associated-5)
