SUN5 (Sad1 and UNC84 domain containing 5)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 140732
Gene name Sad1 and UNC84 domain containing 5
Gene symbol SUN5
Synonyms (NCBI Gene)
SPAG4LSPGF16TSARG4dJ726C3.1
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 information provided by dbSNP.
6
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613942 16252 ENSG00000167098
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure 16 Pathogenic; Likely pathogenic rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025 RCV000258589
RCV000258695
RCV000258762
RCV000258580
RCV000258689
RCV000258508
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SUN5-related disorder Likely benign rs572445773, rs372936971 RCV003897351
RCV003924072
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aneuploidy Associate 33671757
Genetic Diseases Inborn Associate 27640305
Infertility Male Associate 27640305