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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SUN5
Sad1 and UNC84 domain containing 5
Chromosome 20 Β· 20q11.21
NCBI Gene: 140732Ensembl: ENSG00000167098.12HGNC: HGNC:16252UniProt: A0A384MDU5
24PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingspermatogenesisspermatid developmentnuclear inner membranemale infertility with teratozoospermia due to single gene mutationspermatogenic failure 16DNA methylationazoospermia
✦AI Summary

SUN5 (Sad1 and UNC84 domain containing 5) is a testis-specific nuclear envelope protein essential for male fertility that functions as a critical structural component of the sperm head-tail coupling apparatus (HTCA) 1. SUN5 anchors the sperm head to the tail by connecting the nuclear envelope to the cytoskeletal machinery 2. Mechanistically, SUN5 interacts with nuclear membrane protein LaminB1 to connect the nucleus and with cytoskeletal GTPase Septin12 to connect the proximal centriole, forming an LaminB1/SUN5/Septin12 complex that bridges the head-tail junction 1. SUN5 also cooperates with CENTLEIN and PMFBP1 as functional partners within the HTCA 3. Disease-relevant mutations in SUN5 represent the most frequent genetic cause (33-47%) of acephalic spermatozoa syndrome (ASS), a severe male infertility condition characterized by sperm decapitation 1. SUN5 mutations impair protein folding, cellular localization, and interactions with binding partners like DNAJB13, disrupting head-tail integrity 2. Clinically, SUN5 deficiency causes complete male sterility due to production of acephalic spermatozoa, though intracytoplasmic sperm injection (ICSI) can overcome this defect 4. Recent reports identify novel SUN5 variants associated with oligoasthenoteratozoospermia, expanding the mutational spectrum of male infertility 5.

Sources cited
1
SUN5 localizes to head-tail junction and forms LaminB1/SUN5/Septin12 complex; mutations cause acephalic spermatozoa syndrome in 33-47% of cases
PMID: 38870534
2
SUN5 is a testis-specific nuclear envelope protein; mutations impair protein folding, localization, and interaction with DNAJB13
PMID: 29298896
3
CENTLEIN directly interacts with SUN5 and PMFBP1 as structural components of HTCA; these proteins are necessary for sperm head-tail integration
PMID: 34389728
4
PMFBP1 mutations cause acephalic spermatozoa syndrome through disruption of cooperation with SUN5; ICSI can overcome this infertility
PMID: 30032984
5
Novel homozygous missense SUN5 variant (p.A235T) identified in patient with oligoasthenoteratozoospermia and HTCA defects
PMID: 40373254
6
SUN5 mutations result in acephalic sperm as a major type of sperm morphological abnormality
PMID: 39417902
Disease Associationsβ“˜21
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.66Moderate
spermatogenic failure 16Open Targets
0.54Moderate
DNA methylationOpen Targets
0.32Weak
azoospermiaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.08Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.07Suggestive
spermatogenic failure 20Open Targets
0.07Suggestive
spermatogenic failure 5Open Targets
0.07Suggestive
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.07Suggestive
spermatogenic failure 86Open Targets
0.07Suggestive
spermatogenic failure 26Open Targets
0.07Suggestive
spermatogenic failure 31Open Targets
0.07Suggestive
spermatogenic failure 53Open Targets
0.07Suggestive
spermatogenic failure 87Open Targets
0.07Suggestive
spermatogenic failure 42Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
spermatogenic failure 85Open Targets
0.07Suggestive
Spermatogenic failure 16UniProt
Pathogenic Variants7
NM_080675.4(SUN5):c.381del (p.Val128fs)Pathogenic
Spermatogenic failure 16|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 128
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)Likely pathogenic
Spermatogenic failure 16|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 356
NM_080675.4(SUN5):c.445C>T (p.Arg149Ter)Likely pathogenic
Spermatogenic failure 16
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_080675.4(SUN5):c.851C>G (p.Ser284Ter)Pathogenic
Spermatogenic failure 16
β˜†β˜†β˜†β˜†2016β†’ Residue 284
NM_080675.4(SUN5):c.485T>A (p.Met162Lys)Pathogenic
Spermatogenic failure 16
β˜†β˜†β˜†β˜†2016β†’ Residue 162
NM_080675.4(SUN5):c.824C>T (p.Thr275Met)Pathogenic
Spermatogenic failure 16
β˜†β˜†β˜†β˜†2016β†’ Residue 275
NM_080675.4(SUN5):c.781G>A (p.Val261Met)Pathogenic
Spermatogenic failure 16
β˜†β˜†β˜†β˜†2016β†’ Residue 261
View on ClinVar β†—
Related Genes
TSSK3Shared pathway100%SPATA16Shared pathway100%SYNE3Protein interaction91%SYNE2Protein interaction78%SYNE1Protein interaction78%KASH5Protein interaction78%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Brain
0%
Heart
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SUN5TSSK3SPATA16SYNE3SYNE2SYNE1KASH5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TC36
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.15LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.90 [0.71–1.15]
RankingsWhere SUN5 stands among ~20K protein-coding genes
  • #13,323of 20,598
    Most Researched24
  • #3,263of 5,498
    Most Pathogenic Variants7
  • #11,920of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedSUN5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet Β· 2024
1.00
2
The missing linker between SUN5 and PMFBP1 in sperm head-tail coupling apparatus.
PMID: 34389728
Nat Commun Β· 2021
0.90
3
SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.
PMID: 38870534
Mol Hum Reprod Β· 2024
0.80
4
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
PMID: 30032984
Am J Hum Genet Β· 2018
0.70
5
Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human
PMID: 29298896
J Biol Chem Β· 2018
0.60