SUN5 (Sad1 and UNC84 domain containing 5)

Gene

• Entrez ID: 140732
• Gene name: Sad1 and UNC84 domain containing 5
• Gene symbol: SUN5
• Synonyms (NCBI Gene): SPAG4L, SPGF16, TSARG4, dJ726C3.1
• Chromosome: 20
• Chromosome location: 20q11.21
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs754130052	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs756459525	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs781693813	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041023	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs886041024	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886041025	G>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IBA
GO:0005637	Component	Nuclear inner membrane	IDA	27640305
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEP	12621555
GO:0007286	Process	Spermatid development	ISS
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IBA
GO:0043495	Function	Protein-membrane adaptor activity	IBA
GO:0120212	Component	Sperm head-tail coupling apparatus	IDA	27640305
GO:0120212	Component	Sperm head-tail coupling apparatus	ISS

Other IDs

• MIM: 613942
• HGNC: 16252
• e!Ensembl: ENSG00000167098

Protein

• UniProt ID: Q8TC36
• Protein name: SUN domain-containing protein 5 (Sad1 and UNC84 domain-containing protein 5) (Sperm-associated antigen 4-like protein) (Testis and spermatogenesis-related gene 4 protein)
• Protein function: Plays an essential role in anchoring sperm head to the tail. Is responsible for the attachment of the coupling apparatus to the sperm nuclear envelope.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07738	Sad1_UNC	231 → 363	Sad1 / UNC-like C-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Sperm (at protein level) (PubMed:27640305). Widely expressed (PubMed:12621555). Conflictingly shown to be specifically expressed in testis (PubMed:21711156). {ECO:0000269|PubMed:12621555, ECO:0000269|PubMed:21711156, ECO:0000269|PubMed
• Sequence:

  MPRSSRSPGDPGALLEDVAHNPRPRRIAQRGRNTSRMAEDTSPNMNDNILLPVRNNDQAL
  GLTQCMLGCVSWFTCFACSLRTQAQQVLFNTCRCKLLCQKLMEKTGILLLCAFGFWMFSI
  HLPSKMKVWQDDSINGPLQSLRLYQEKVRHHSGEIQDLRGSMNQLIAKLQEMEAMSDEQK
  MAQKIMKMIHGDYIEKPDFALKSIGASIDFEHTSVTYNHEKAHSYWNWIQLWNYAQPPDV
  ILEPNVTPGNCWAFEGDRGQVTIQLAQKVYLSNLTLQHIPKTISLSGSLDTAPKDFVIYG
  MEGSPKEEVFLGAFQFQPENIIQMFPLQNQPARAFSAVKVKISSNWGNPGFTCLYRVRVH
  GSVAPPREQPHQNPYPKRD

• Sequence length: 379

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 16	Pathogenic; Likely pathogenic	rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025	RCV000258589 RCV000258695 RCV000258762 RCV000258580 RCV000258689 RCV000258508	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MALE INFERTILITY DUE TO ACEPHALIC SPERMATOZOA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUN5-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acephalic spermatozoa	Acephalic spermatozoa	BEFREE	28945193, 29331481, 30032984		★☆☆☆☆ Found in Text Mining only
Acephalic spermatozoa	Acephalic spermatozoa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	33671757	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	27640305	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Male infertility due to acephalic spermatozoa	Male infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 16	Spermatogenic Failure	BEFREE	27640305, 28541472, 29298896, 29329387, 30032984		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 16	Spermatogenic Failure	ORPHANET_DG	27640305		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 16	Spermatogenic Failure	UNIPROT_DG	27640305, 28541472, 28945193, 29298896		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 16	Spermatogenic Failure	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 16	Spermatogenic Failure	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 31	Spermatogenic Failure	ORPHANET_DG	27640305		★☆☆☆☆ Found in Text Mining only