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
388705342024SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.0
388705342024SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.0
341595702022Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome.0
341595702022Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome.0
336717572021Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.3
336717572021Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.3
322854432020Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa.16
322854432020Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa.16
292988962018Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.20
293314812018Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China.14
292988962018Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.20
293314812018Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China.14
285414722017Homozygous deletion of SUN5 in three men with decapitated spermatozoa.23
285414722017Homozygous deletion of SUN5 in three men with decapitated spermatozoa.23
276403052016Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.38

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-(sad1-and-unc84-domain-containing-5)