• Gene id: 140732

Gene Summary

• Gene Symbol: SUN5   Gene   UCSC   Ensembl
• Aliases: SPAG4L, SPGF16, TSARG4, dJ726C3.1
• Gene name: Sad1 and UNC84 domain containing 5
• Alternate names: SUN domain-containing protein 5, epididymis secretory sperm binding protein, sad1 and UNC84 domain-containing protein 5, sperm-associated antigen 4-like protein, testis and spermatogenesis related gene 4, testis and spermatogenesis-related gene 4 protein,
• Gene location: 20q11.21 (33004448: 32983772)     Exons: 15     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mu
• OMIM: 613942

SNPs

rs886041025

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985782G>C
NC_000020.10   g.31573588G>C
NG_054760.1   g.23668C>G
NM_080675.4   c.851C>G
NM_080675.3   c.851C>G
XM_011528573.1   c.920C>G
XM_011528574.1   c.776C>G
XM_011528575.1   c.581C>G
NP_542406.2   p.Ser284Ter
XP_011526875.1   p.Ser307Ter
XP_01152  

rs886041024

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985852C>T
NC_000020.10   g.31573658C>T
NG_054760.1   g.23598G>A
NM_080675.4   c.781G>A
NM_080675.3   c.781G>A
XM_011528573.1   c.850G>A
XM_011528574.1   c.706G>A
XM_011528575.1   c.511G>A
NP_542406.2   p.Val261Met
XP_011526875.1   p.Val284Met
XP_01152  

rs886041023

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32995668A>G
NC_000020.11   g.32995668A>T
NC_000020.10   g.31583474A>G
NC_000020.10   g.31583474A>T
NG_054760.1   g.13782T>C
NG_054760.1   g.13782T>A
NM_080675.4   c.485T>C
NM_080675.4   c.485T>A
NM_080675.3   c.485T>C
NM_080675.3   c.485T>A
XM_011528573  

rs781693813

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.32997649del
NC_000020.10   g.31585455del
NG_054760.1   g.11803del
NM_080675.4   c.381del
NM_080675.3   c.381del
XM_011528573.1   c.450del
XM_011528574.1   c.306del
XM_011528575.1   c.111del
XM_011528576.1   c.450del
NP_542406.2   p.Val128fs
XP_011526875  

rs756459525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985809G>A
NC_000020.10   g.31573615G>A
NG_054760.1   g.23641C>T
NM_080675.4   c.824C>T
NM_080675.3   c.824C>T
XM_011528573.1   c.893C>T
XM_011528574.1   c.749C>T
XM_011528575.1   c.554C>T
NP_542406.2   p.Thr275Met
XP_011526875.1   p.Thr298Met
XP_01152  

rs754130052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32983868G>A
NC_000020.10   g.31571674G>A
NG_054760.1   g.25582C>T
NM_080675.4   c.1066C>T
NM_080675.3   c.1066C>T
XM_011528573.1   c.1135C>T
XM_011528574.1   c.991C>T
XM_011528575.1   c.796C>T
NP_542406.2   p.Arg356Cys
XP_011526875.1   p.Arg379Cys
XP_01  

Diseases

Associated diseases	References
Spermatogenesis defects	KEGG: H01282
Sperm head-tail junction	MIK: 28541472
May be involved in nuclear envelope proteins reconstitution and nuclear migration occurring during the process of spermatocyte division	MIK: 21711156
Male factor infertility	MIK: 29298896
Acephalic spermatozoa	MIK: 29298896
Acephalic spermatozoa syndrome	MIK: 27640305
Male infertility	MIK: 29298896
Cryptorchidism	MIK: 28606200
May be involved in nuclear envelope proteins reconstitution and nuclear migration occurring during the process of spermatocyte division	MIK: 21711156
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Sperm morphological defects	MIK: 29713536
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29298896	Acephalic spermatozoa, Male infertility	SUN5 mutation (c.475C?T; p.Arg159*)			Male infertility
28541472	Sperm head-tail junction and male fertility	p.Gly114Arg		17 men with decapitated spermatozoa	Male infertility
21711156	May be involved in nuclear envelope proteins reconstitution and nuclear migration occurring during the process of spermatocyte division				Male infertility
29713536	Sperm morphological defects	[c.381delA (p.Val128Serfs*7)], [c.824C?>?T (p.Thr275Met)], [c.381delA (p.Val128Serfs*7)], [c.781G?>?A (p.Val261Met)], [c.216G?>?A (p.Trp72*)], [c.1043A?>?T (p.Asn348Ile)], [c.425.1G?>?A/c.1043A?>?T (p.Asn348Ile)], [c.851C?>?G (p.Ser284*)], [c.340G?>?A (p.			Male infertility	NGS
27640305	Acephalic spermatozoa syndrome	(c.824C>T [p.Thr275Met]), (c.1006C>T [p.Arg356Cys] and c.485T>A [p.Met162Lys]), (c.381delA [p.Val128Serfs?7] and c.824C>T [p.Thr275Met], c.381delA [p.Val128Serfs?7] and c.781G>A [p.Val261Met], c.216G>A [p.Trp72?] and c.1043A>T [p.Asn348Ile], c.425+1G>A/c.	Chinese	17 cases	Male infertility	NGS
29331481	Acephalic spermatozoa	c.381delA (p.V128Sfs*7)	Chinese	15 unrelated affected individuals with acephalic spermatozoa	Male infertility	NGS
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq