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Aliases for SPAG4 Gene

Aliases for SPAG4 Gene

  • Sperm Associated Antigen 4 2 3 5
  • Outer Dense Fiber-Associated Protein SPAG4 3 4
  • Sad1 And UNC84 Domain Containing 4 2 3
  • SUN Domain-Containing Protein 4 3 4
  • Cancer/Testis Antigen 127 2 3
  • Acrosomal Protein ACR55 2 3
  • SUN4 3 4
  • Sperm-Associated Antigen 4 Protein 3
  • Sperm Tail Protein 3
  • CT127 3

External Ids for SPAG4 Gene

Previous GeneCards Identifiers for SPAG4 Gene

  • GC20P033962
  • GC20P034872
  • GC20P034919
  • GC20P033667
  • GC20P034203
  • GC20P030981

Summaries for SPAG4 Gene

Entrez Gene Summary for SPAG4 Gene

  • The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for SPAG4 Gene

SPAG4 (Sperm Associated Antigen 4) is a Protein Coding gene. Diseases associated with SPAG4 include Renal Clear Cell Carcinoma. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is SUN5.

UniProtKB/Swiss-Prot for SPAG4 Gene

  • Involved in spermatogenesis. Required for sperm head formation but not required to establish and maintain general polarity of the sperm head. Required for anchoring and organization of the manchette. Required for targeting of SUN3 and probably SYNE1 through a probable SUN1:SYNE3 LINC complex to the nuclear envelope and involved in accurate posterior sperm head localization of the complex. May anchor SUN3 the nuclear envelope. Involved in maintenance of the nuclear envelope integrity. May assist the organization and assembly of outer dense fibers (ODFs), a specific structure of the sperm tail.

Additional gene information for SPAG4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPAG4 Gene

Genomics for SPAG4 Gene

Regulatory Elements for SPAG4 Gene

Enhancers for SPAG4 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
GH20H035739 3.1 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +125.9 125871 7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D CPNE1 RBM12 RBM39 ERGIC3 AAR2 PHF20 EIF6 TRPC4AP RPL36P4 MYL9
GH20H035795 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +180.9 180948 3 TAL1 HLF ZNF507 CPNE1 PHF20 RBM12 NCOA6 SPAG4 RBM39 SCAND1 GC20M035824
GH20H035765 1.8 FANTOM5 ENCODE dbSUPER 5.7 +153.7 153693 9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF548 SP3 NFYC SSRP1 CPNE1 RBM12 RBM39 NCOA6 ERGIC3 PHF20 AAR2 DLGAP4-AS1 TRPC4AP PROCR
GH20H035791 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +176.6 176560 1 SOX6 ATM GATA3 JUND ZNF366 POLR2A RCOR2 ADNP IKZF1 NBN CPNE1 PHF20 RBM39 RPF2P1 ROMO1 NFS1 SPAG4 GC20M035824
GH20H035207 1.3 Ensembl ENCODE 4.5 -407.5 -407453 1 FOXA2 ATF1 ARNT ARID4B SIN3A YY1 TCF12 GTF3C2 GATA2 ZNF143 RBM12 TRPC4AP RBM39 NCOA6 ERGIC3 CPNE1 RPL36P4 EIF6 EDEM2 MMP24-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPAG4 on UCSC Golden Path with GeneCards custom track

Promoters for SPAG4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136586 747 1601 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1

Genomic Location for SPAG4 Gene

Chromosome:
20
Start:
35,615,853 bp from pter
End:
35,621,049 bp from pter
Size:
5,197 bases
Orientation:
Plus strand

Genomic View for SPAG4 Gene

Genes around SPAG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAG4 Gene

Proteins for SPAG4 Gene

  • Protein details for SPAG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPE6-SPAG4_HUMAN
    Recommended name:
    Sperm-associated antigen 4 protein
    Protein Accession:
    Q9NPE6
    Secondary Accessions:
    • O43648

    Protein attributes for SPAG4 Gene

    Size:
    437 amino acids
    Molecular mass:
    48165 Da
    Quaternary structure:
    • Homodimer. Interacts with ODF1. May associate with microtubules (By similarity). Interacts with SUN3 and SYNE1; suggesting the formation of a spermatogenesis-specific LINC complex; a SUN domain-based heterotrimer with SUN3 may associate with SYNE1 (By similarity). Interacts with SEPT12 and LMNB1; during spermatogenesis (PubMed:25775403).
    SequenceCaution:
    • Sequence=AAC32052.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for SPAG4 Gene

Post-translational modifications for SPAG4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPAG4 Gene

No data available for DME Specific Peptides for SPAG4 Gene

Domains & Families for SPAG4 Gene

Gene Families for SPAG4 Gene

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

Protein Domains for SPAG4 Gene

Suggested Antigen Peptide Sequences for SPAG4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPAG4: view

No data available for UniProtKB/Swiss-Prot for SPAG4 Gene

Function for SPAG4 Gene

Molecular function for SPAG4 Gene

GENATLAS Biochemistry:
spermatid-specific gene 4 interacting specifically with the 27kDa outer dense fiber protein ODF27 in elongation spermatid
UniProtKB/Swiss-Prot Function:
Involved in spermatogenesis. Required for sperm head formation but not required to establish and maintain general polarity of the sperm head. Required for anchoring and organization of the manchette. Required for targeting of SUN3 and probably SYNE1 through a probable SUN1:SYNE3 LINC complex to the nuclear envelope and involved in accurate posterior sperm head localization of the complex. May anchor SUN3 the nuclear envelope. Involved in maintenance of the nuclear envelope integrity. May assist the organization and assembly of outer dense fibers (ODFs), a specific structure of the sperm tail.

Phenotypes From GWAS Catalog for SPAG4 Gene

Gene Ontology (GO) - Molecular Function for SPAG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 9691178
GO:0005515 protein binding IPI 25775403
GO:0043495 protein anchor IBA --
genes like me logo Genes that share ontologies with SPAG4: view
genes like me logo Genes that share phenotypes with SPAG4: view

Animal Models for SPAG4 Gene

MGI Knock Outs for SPAG4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPAG4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SPAG4 Gene

Localization for SPAG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAG4 Gene

Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, flagellum axoneme. Nucleus envelope. Nucleus inner membrane. Note=In spermatids, it is localized in the transient manchette and in the axoneme of elongating spermatids and epididymal sperm (By similarity). Colocalized with SEPT12 at the nuclear periphery in round spermatids, at sperm neck in elongated spermatids and at midpiece regions in ejaculated spermatozoa (PubMed:25775403). {ECO:0000250 UniProtKB:O55034, ECO:0000269 PubMed:25775403}.

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 SPAG4 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 3
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SPAG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IBA --
GO:0005637 nuclear inner membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SPAG4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPAG4 Gene

Pathways & Interactions for SPAG4 Gene

SuperPathways for SPAG4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPAG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006998 nuclear envelope organization IBA --
GO:0007283 spermatogenesis IEA,TAS --
GO:0030154 cell differentiation IEA --
GO:0090286 cytoskeletal anchoring at nuclear membrane IBA --
genes like me logo Genes that share ontologies with SPAG4: view

No data available for Pathways by source and SIGNOR curated interactions for SPAG4 Gene

Drugs & Compounds for SPAG4 Gene

(3) Drugs for SPAG4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SPAG4: view

Transcripts for SPAG4 Gene

Unigene Clusters for SPAG4 Gene

Sperm associated antigen 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPAG4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SPAG4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6:

Relevant External Links for SPAG4 Gene

GeneLoc Exon Structure for
SPAG4
ECgene alternative splicing isoforms for
SPAG4

Expression for SPAG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPAG4 Gene

mRNA differential expression in normal tissues according to GTEx for SPAG4 Gene

This gene is overexpressed in Testis (x8.3) and Pancreas (x7.9).

Protein differential expression in normal tissues from HIPED for SPAG4 Gene

This gene is overexpressed in Cervix (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPAG4 Gene



Protein tissue co-expression partners for SPAG4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPAG4 Gene:

SPAG4

SOURCE GeneReport for Unigene cluster for SPAG4 Gene:

Hs.123159

mRNA Expression by UniProt/SwissProt for SPAG4 Gene:

Q9NPE6-SPAG4_HUMAN
Tissue specificity: Predominantly epressed in testis. Expressed in ejaculated spermatozoa (at protein level).
genes like me logo Genes that share expression patterns with SPAG4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPAG4 Gene

Orthologs for SPAG4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPAG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAG4 33 34
  • 99.85 (n)
cow
(Bos Taurus)
Mammalia SPAG4 33 34
  • 88.01 (n)
dog
(Canis familiaris)
Mammalia SPAG4 33 34
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911109 33
  • 85.35 (n)
mouse
(Mus musculus)
Mammalia Spag4 33 16 34
  • 84.56 (n)
oppossum
(Monodelphis domestica)
Mammalia SPAG4 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 41 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta koi 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-84 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for SPAG4 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 SPAG4 Gene

ENSEMBL:
Gene Tree for SPAG4 (if available)
TreeFam:
Gene Tree for SPAG4 (if available)

Paralogs for SPAG4 Gene

Paralogs for SPAG4 Gene

(5) SIMAP similar genes for SPAG4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SPAG4: view

Variants for SPAG4 Gene

Sequence variations from dbSNP and Humsavar for SPAG4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000461465 -- 35,617,942(+) CATTC(C/T)CCTGC intron-variant
rs1001009870 -- 35,619,406(+) CGAGG(G/T)CGTGG intron-variant
rs1001093449 -- 35,616,488(+) CGGTT(A/G)TGGGA intron-variant
rs1001619666 -- 35,620,096(+) CTCCC(A/G)AGTAG intron-variant
rs1001634950 -- 35,617,450(+) ACCCG(G/T)ACACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPAG4 Gene

Variant ID Type Subtype PubMed ID
nsv526188 CNV gain 19592680

Variation tolerance for SPAG4 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAG4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPAG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPAG4 Gene

Disorders for SPAG4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPAG4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
renal clear cell carcinoma
  • clear cell carcinoma of kidney
- elite association - COSMIC cancer census association via MalaCards
Search SPAG4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPAG4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPAG4
genes like me logo Genes that share disorders with SPAG4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPAG4 Gene

Publications for SPAG4 Gene

  1. Human sperm associated antigen 4 (SPAG4) is a potential cancer marker. (PMID: 14614621) Kennedy C … O'Bryan MK (Cell and tissue research 2004) 3 4 22 60
  2. Spag4, a novel sperm protein, binds outer dense-fiber protein Odf1 and localizes to microtubules of manchette and axoneme. (PMID: 10373309) Shao X … van der Hoorn FA (Developmental biology 1999) 2 3 22 60
  3. A novel testis-specific gene, SPAG4, whose product interacts specifically with outer dense fiber protein ODF27, maps to human chromosome 20q11.2. (PMID: 9691178) Tarnasky H … van der Hoorn FA (Cytogenetics and cell genetics 1998) 2 3 4 60
  4. SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells. (PMID: 25775403) Yeh CH … Lin YH (PloS one 2015) 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 SPAG4 Gene

Sources for SPAG4 Gene

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