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Aliases for SUN5 Gene

Aliases for SUN5 Gene

  • Sad1 And UNC84 Domain Containing 5 2 3 5
  • Testis And Spermatogenesis-Related Gene 4 Protein 3 4
  • Sad1 And UNC84 Domain-Containing Protein 5 3 4
  • Testis And Spermatogenesis Related Gene 4 2 3
  • Sperm-Associated Antigen 4-Like Protein 3 4
  • SPAG4L 3 4
  • TSARG4 3 4
  • Sperm Associated Antigen 4-Like 2
  • SUN Domain-Containing Protein 5 3
  • DJ726C3.1 3
  • SPGF16 3

External Ids for SUN5 Gene

Previous HGNC Symbols for SUN5 Gene

  • SPAG4L

Previous GeneCards Identifiers for SUN5 Gene

  • GC20M031571
  • GC20M028358

Summaries for SUN5 Gene

Entrez Gene Summary for SUN5 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. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]

GeneCards Summary for SUN5 Gene

SUN5 (Sad1 And UNC84 Domain Containing 5) is a Protein Coding gene. Diseases associated with SUN5 include Spermatogenic Failure 16. An important paralog of this gene is SPAG4.

UniProtKB/Swiss-Prot for SUN5 Gene

  • May be involved in meiotic stage of spermatogenesis.

Gene Wiki entry for SUN5 Gene

Additional gene information for SUN5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUN5 Gene

Genomics for SUN5 Gene

Regulatory Elements for SUN5 Gene

Enhancers for SUN5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H032559 1.5 Ensembl ENCODE dbSUPER 14.6 +443.2 443186 3 PKNOX1 FOXA2 MLX ARID4B DMAP1 SLC30A9 GLIS2 KLF7 RUNX3 SP3 SUN5 BPIFA3 ENSG00000224876 BPIFB5P RPL12P3 RNU1-94P ASXL1 CDK5RAP1 TM9SF4 PDRG1
GH20H033991 1.4 ENCODE dbSUPER 14.6 -989.6 -989599 4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000228386 ENSG00000229188 BPIFB5P BPIFA3 ENSG00000224876 SUN5 RPL12P3 RPS2P1 CDK5RAP1 ENSG00000272945
GH20H033400 1.2 ENCODE 14.6 -396.9 -396914 2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC CDK5RAP1 BPIFB5P RPL12P3 BPIFA3 ENSG00000224876 ENSG00000229188 SUN5 ENSG00000228386 ZNF341-AS1 RPS2P1
GH20H033684 1.1 ENCODE 14.6 -681.5 -681452 2 HDGF MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS SP3 CEBPZ ZNF341-AS1 ENSG00000229188 ENSG00000228386 BPIFB5P RPL12P3 BPIFA3 ENSG00000224876 SUN5 EIF2S2 RPS2P1
GH20H032902 0.9 ENCODE 11.2 +101.8 101780 0 ARID4B RAD21 ZNF121 GLIS2 ZNF143 MIXL1 DEK ZNF654 MXD4 CEBPB BPIFB4 SUN5 EFCAB8 BPIFA3 ENSG00000224876 PIR55937
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SUN5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SUN5 Gene

Chromosome:
20
Start:
32,983,773 bp from pter
End:
33,004,449 bp from pter
Size:
20,677 bases
Orientation:
Minus strand

Genomic View for SUN5 Gene

Genes around SUN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUN5 Gene

Proteins for SUN5 Gene

  • Protein details for SUN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC36-SUN5_HUMAN
    Recommended name:
    SUN domain-containing protein 5
    Protein Accession:
    Q8TC36
    Secondary Accessions:
    • A6NJ82
    • Q5T9R0

    Protein attributes for SUN5 Gene

    Size:
    379 amino acids
    Molecular mass:
    43081 Da
    Quaternary structure:
    • Probable homotrimer.

neXtProt entry for SUN5 Gene

Post-translational modifications for SUN5 Gene

No data available for DME Specific Peptides for SUN5 Gene

Domains & Families for SUN5 Gene

Gene Families for SUN5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SUN5 Gene

Suggested Antigen Peptide Sequences for SUN5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SUN5: view

No data available for UniProtKB/Swiss-Prot for SUN5 Gene

Function for SUN5 Gene

Molecular function for SUN5 Gene

UniProtKB/Swiss-Prot Function:
May be involved in meiotic stage of spermatogenesis.

Gene Ontology (GO) - Molecular Function for SUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0043495 protein anchor IBA --
genes like me logo Genes that share ontologies with SUN5: view
genes like me logo Genes that share phenotypes with SUN5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SUN5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SUN5 Gene

Localization for SUN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUN5 Gene

Nucleus inner membrane; Single-pass membrane protein. Note=Localizes to the head-tail junction of the sperm. {ECO:0000269 PubMed:27640305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUN5 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA,IDA 27640305
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SUN5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SUN5 Gene

Pathways & Interactions for SUN5 Gene

No Data Available

Interacting Proteins for SUN5 Gene

Gene Ontology (GO) - Biological Process for SUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006998 nuclear envelope organization IBA --
GO:0007283 spermatogenesis IEP 12621555
GO:0030154 cell differentiation IEA --
GO:0090286 cytoskeletal anchoring at nuclear membrane IBA --
genes like me logo Genes that share ontologies with SUN5: view

No data available for Pathways by source and SIGNOR curated interactions for SUN5 Gene

Drugs & Compounds for SUN5 Gene

No Compound Related Data Available

Transcripts for SUN5 Gene

Unigene Clusters for SUN5 Gene

Sad1 and UNC84 domain containing 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SUN5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SUN5 Gene

No ASD Table

Relevant External Links for SUN5 Gene

GeneLoc Exon Structure for
SUN5
ECgene alternative splicing isoforms for
SUN5

Expression for SUN5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SUN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SUN5 Gene

This gene is overexpressed in Testis (x52.8).

Protein differential expression in normal tissues from HIPED for SUN5 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SUN5 Gene



Protein tissue co-expression partners for SUN5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SUN5 Gene:

SUN5

SOURCE GeneReport for Unigene cluster for SUN5 Gene:

Hs.375186

mRNA Expression by UniProt/SwissProt for SUN5 Gene:

Q8TC36-SUN5_HUMAN
Tissue specificity: Sperm (at protein level) (PubMed:27640305). Widely expressed (PubMed:12621555). Conflictingly shown to be specifically expressed in testis (PubMed:21711156).
genes like me logo Genes that share expression patterns with SUN5: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUN5 Gene

Orthologs for SUN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SUN5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUN5 33 34
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia SUN5 33
  • 86.09 (n)
SPAG4L 34
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SUN5 33 34
  • 85.73 (n)
mouse
(Mus musculus)
Mammalia Sun5 33 16 34
  • 83.58 (n)
rat
(Rattus norvegicus)
Mammalia Sun5 33
  • 81.99 (n)
oppossum
(Monodelphis domestica)
Mammalia SUN5 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUN5 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 41 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 36 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta koi 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-84 34
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for SUN5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SUN5 Gene

ENSEMBL:
Gene Tree for SUN5 (if available)
TreeFam:
Gene Tree for SUN5 (if available)

Paralogs for SUN5 Gene

Paralogs for SUN5 Gene

(5) SIMAP similar genes for SUN5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SUN5: view

Variants for SUN5 Gene

Sequence variations from dbSNP and Humsavar for SUN5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs754130052 Pathogenic, Spermatogenic failure 16 (SPGF16) [MIM:617187] 32,983,868(+) CACGC(A/G)GTACA reference, missense
rs756459525 Pathogenic, Spermatogenic failure 16 (SPGF16) [MIM:617187] 32,985,809(+) GCAGC(A/G)TGAGG reference, missense
rs758335571 Spermatogenic failure 16 (SPGF16) [MIM:617187] 32,983,891(+) CTGGG(A/T)TCCCC reference, missense
VAR_077983 Spermatogenic failure 16 (SPGF16) [MIM:617187]
VAR_077984 Spermatogenic failure 16 (SPGF16) [MIM:617187]

Structural Variations from Database of Genomic Variants (DGV) for SUN5 Gene

Variant ID Type Subtype PubMed ID
esv2758792 CNV loss 17122850
esv991017 CNV deletion 20482838
nsv1056411 CNV loss 25217958
nsv477263 CNV novel sequence insertion 20440878

Variation tolerance for SUN5 Gene

Residual Variation Intolerance Score: 73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SUN5 Gene

Human Gene Mutation Database (HGMD)
SUN5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUN5 Gene

Disorders for SUN5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SUN5 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 16
  • acephalic spermatozoa syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SUN5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SUN5_HUMAN
  • Spermatogenic failure 16 (SPGF16) [MIM:617187]: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads. {ECO:0000269 PubMed:27640305}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SUN5

Human Genome Epidemiology (HuGE) Navigator
SUN5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SUN5
genes like me logo Genes that share disorders with SUN5: view

No data available for Genatlas for SUN5 Gene

Publications for SUN5 Gene

  1. Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. (PMID: 27640305) Zhu F … Cao Y (American journal of human genetics 2016) 3 4 60
  2. SPAG4L, a novel nuclear envelope protein involved in the meiotic stage of spermatogenesis. (PMID: 21711156) Jiang XZ … Xing XW (DNA and cell biology 2011) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. [Cloning of cDNA of TSARG4, a human spermatogenesis related gene]. (PMID: 12621555) Xing XW … Lu GX (Sheng wu hua xue yu sheng wu wu li xue bao Acta biochimica et biophysica Sinica 2003) 3 4 60
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60

Products for SUN5 Gene

Sources for SUN5 Gene

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