SUN5 (Sad1 and UNC84 domain containing 5)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
140732
Gene name Gene Name - the full gene name approved by the HGNC.
Sad1 and UNC84 domain containing 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SUN5
Synonyms (NCBI Gene) Gene synonyms aliases
SPAG4L, SPGF16, TSARG4, dJ726C3.1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613942 16252 ENSG00000167098
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spermatogenic Failure spermatogenic failure 16 rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025 N/A
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aneuploidy Associate 33671757
Genetic Diseases Inborn Associate 27640305
Infertility Male Associate 27640305