SUN5 (Sad1 and UNC84 domain containing 5)

2014-11-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
SPAG4L,SPGF16,TSARG4,dJ726C3.1

Other Information

Locus ID:

NCBI: 140732
MIM: 613942
HGNC: 16252
Ensembl: ENSG00000167098

Variants:

dbSNP: 140732
ClinVar: 140732
TCGA: ENSG00000167098
COSMIC: SUN5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167098ENST00000356173Q8TC36
ENSG00000167098ENST00000356173A0A384MDU5
ENSG00000167098ENST00000375519Q5TDX8
ENSG00000167098ENST00000375523A9Z1W8
ENSG00000167098ENST00000420875Q5TDX9

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
276403052016Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.13
217111562011SPAG4L, a novel nuclear envelope protein involved in the meiotic stage of spermatogenesis.9
285414722017Homozygous deletion of SUN5 in three men with decapitated spermatozoa.8
292988962018Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.4
293314812018Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China.3

Citation

Dessen P

SUN5 (Sad1 and UNC84 domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74379/sun5