SPATA16 (spermatogenesis associated 16)

2014-08-01  

Identity

HGNC
LOCATION
3q26.31
LOCUSID
ALIAS
NYD-SP12,SPGF6
FUSION GENES

Other Information

Locus ID:

NCBI: 83893
MIM: 609856
HGNC: 29935
Ensembl: ENSG00000144962

Variants:

dbSNP: 83893
ClinVar: 83893
TCGA: ENSG00000144962
COSMIC: SPATA16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144962ENST00000351008Q9BXB7
ENSG00000144962ENST00000351008A0A140VJV8
ENSG00000144962ENST00000652082A0A494BZR9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
178470062007Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.70
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
125294162003Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12.15
270863572016A new mutation identified in SPATA16 in two globozoospermic patients.11
290654582017Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models.10
163721192006Gene functional research using polyethylenimine-mediated in vivo gene transfection into mouse spermatogenic cells.8
248254172014First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16.5
176650872007Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12.3
309121722019Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.0

Citation

Dessen P

SPATA16 (spermatogenesis associated 16)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54657/spata16