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] See more...

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
  • SUN Domain-Containing Protein 5 3 4
  • SPAG4L 3 4
  • TSARG4 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Sperm Associated Antigen 4-Like 2
  • 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 and Male Infertility Due To Acephalic Spermatozoa. An important paralog of this gene is SPAG4.

UniProtKB/Swiss-Prot Summary for SUN5 Gene

  • 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.

Gene Wiki entry for SUN5 Gene

Additional gene information for SUN5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUN5 Gene

Genomics for SUN5 Gene

GeneHancer (GH) Regulatory Elements for SUN5 Gene

Promoters and enhancers for SUN5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J033005 Enhancer 0.5 ENCODE 500.7 -0.8 -811 0.1 CTCF SMC3 RAD21 ARID3A XRCC5 ZNF143 FOXA2 ZNF24 FOXA1 SPI1 SUN5 BPIFB2 L13712-019
GH20J033004 Promoter 0.3 EPDnew 500.7 0.0 -4 0.1 SUN5 lnc-SUN5-1 BPIFB2 L13712-019
GH20J032902 Enhancer 1 Ensembl ENCODE 11.2 +101.5 101527 1 CTCF TEAD4 REST RAD21 TRIM22 ZBTB26 SMC3 PCBP1 DEK MYNN BPIFB4 SUN5 EFCAB8 BPIFA3 ENSG00000224876 ENSG00000260257 AB372719 piR-33103-017 L13712-019
GH20J033277 Enhancer 1.1 Ensembl ENCODE 9.9 -273.2 -273182 2.9 NCOR1 ZBTB25 TGIF2 SKI TEAD1 ZBTB26 TBX3 ZKSCAN8 HDAC2 ZSCAN9 BPIFA1 BPIFA3 ENSG00000224876 BPIFA2 SUN5 EFCAB8 BPIFB1 piR-46692
GH20J032894 Enhancer 0.9 Ensembl ENCODE 11.4 +110.0 110048 1.6 CTCF ZIC2 ZNF423 REST RAD21 SMC3 HDAC2 ZNF341 SAP130 MYRF AB372719 MAPRE1 SUN5 EFCAB8 BPIFB4 BPIFB2 BPIFA3 ENSG00000224876 ENSG00000260257 CCM2L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUN5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUN5

Genomic Locations for SUN5 Gene

Genomic Locations for SUN5 Gene
chr20:32,983,773-33,004,449
(GRCh38/hg38)
Size:
20,677 bases
Orientation:
Minus strand
chr20:31,571,579-31,592,239
(GRCh37/hg19)
Size:
20,661 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. Interacts with DNAJB13.

neXtProt entry for SUN5 Gene

Post-translational modifications for SUN5 Gene

  • Highly glycosylated in the Golgi apparatus during spermiogenesis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SUN5 Gene

Domains & Families for SUN5 Gene

Gene Families for SUN5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SUN5 Gene

Blocks:
  • Sad1/UNC-like, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SUN5 Gene

GenScript: Design optimal peptide antigens:
  • Sperm associated antigen 4-like (Q5TDX9_HUMAN)
  • Testis and spermatogenesis-related gene 4 protein (SUN5_HUMAN)
genes like me logo Genes that share domains with SUN5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SUN5 Gene

Function for SUN5 Gene

Molecular function for SUN5 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SUN5 Gene

Gene Ontology (GO) - Molecular Function for SUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0043495 protein membrane anchor IBA 21873635
genes like me logo Genes that share ontologies with SUN5: view
genes like me logo Genes that share phenotypes with SUN5: view

Human Phenotype Ontology for SUN5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. Golgi apparatus. Note=During spermiogenesis, traffics through the Golgi apparatus before reaching the round spermatid inner membrane of the nuclear envelope and later migrates to the coupling apparatus of the sperm during sperm head elongation and differentiation. In mature spermatozoa, is localized to the coupling apparatus of the sperm head and tail in the implementation fossa. {ECO:0000305 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
golgi apparatus 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for SUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IBA 21873635
GO:0005637 nuclear inner membrane IEA,IDA 27640305
GO:0005794 Golgi apparatus 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

PathCards logo

SuperPathways 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 21873635
GO:0007283 spermatogenesis IEP 12621555
GO:0007286 spermatid development ISS --
GO:0030154 cell differentiation IEA --
GO:0090286 cytoskeletal anchoring at nuclear membrane IBA 21873635
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

mRNA/cDNA for SUN5 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for SUN5 Gene

GeneLoc Exon Structure for
SUN5

Expression for SUN5 Gene

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



Protein tissue co-expression partners for SUN5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SUN5 30
  • 86.09 (n)
SPAG4L 31
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SUN5 31 30
  • 85.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sun5 17 31 30
  • 83.58 (n)
rat
(Rattus norvegicus)
Mammalia Sun5 30
  • 81.99 (n)
oppossum
(Monodelphis domestica)
Mammalia SUN5 31
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUN5 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 41 (a)
ManyToMany
-- 31
  • 41 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 36 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 36 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta koi 31
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-84 31
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SUN5: view image

Paralogs for SUN5 Gene

Paralogs for SUN5 Gene

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

  • SUN5_HUMAN
  • A9Z1W8_HUMAN
  • Q5TDX8_HUMAN
  • Q5TDX9_HUMAN
genes like me logo Genes that share paralogs with SUN5: view

Variants for SUN5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUN5 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs754130052 Pathogenic: Spermatogenic failure 16. Spermatogenic failure 16 (SPGF16) [MIM:617187] 32,983,868(-) G/Ap.Arg356Cys MISSENSE_VARIANT
rs756459525 Pathogenic: Spermatogenic failure 16. Spermatogenic failure 16 (SPGF16) [MIM:617187] 32,985,809(-) G/Ap.Thr275Met MISSENSE_VARIANT
rs758335571 Spermatogenic failure 16 (SPGF16) [MIM:617187] p.Asn348Ile
rs781693813 Pathogenic: Spermatogenic failure 16 32,997,646(-) CT/C FRAMESHIFT_VARIANT
rs886041023 Pathogenic: Spermatogenic failure 16. Spermatogenic failure 16 (SPGF16) [MIM:617187] 32,995,668(-) A/Tp.Met162Lys MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SUN5 Gene

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)

Additional Variant Information for SUN5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SUN5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SUN5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 16
  • spgf16
male infertility due to acephalic spermatozoa
  • acephalic spermatozoa syndrome
spermatogenic failure 9
  • globozoospermia
- 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, ECO:0000269 PubMed:28541472, ECO:0000269 PubMed:28945193, ECO:0000269 PubMed:29298896}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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. Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene. (PMID: 29298896) Shang Y … Li W (The Journal of biological chemistry 2018) 3 4 54
  2. Homozygous deletion of SUN5 in three men with decapitated spermatozoa. (PMID: 28541472) Elkhatib RA … Mitchell MJ (Human molecular genetics 2017) 3 4 54
  3. Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. (PMID: 27640305) Zhu F … Cao Y (American journal of human genetics 2016) 3 4 54
  4. 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 54
  5. 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 54

Products for SUN5 Gene

Sources for SUN5 Gene