This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010] See more...

Aliases for SPATA16 Gene

Aliases for SPATA16 Gene

  • Spermatogenesis Associated 16 2 3 5
  • Spermatogenesis-Associated Protein 16 3 4
  • Testis Development Protein NYD-SP12 3 4
  • NYD-SP12 2 3
  • Testicular Tissue Protein Li 185 3
  • Testis-Specific Golgi Protein 3
  • SPATA16 5
  • SPGF6 3

External Ids for SPATA16 Gene

Previous GeneCards Identifiers for SPATA16 Gene

  • GC03M174090
  • GC03M172607
  • GC03M169978

Summaries for SPATA16 Gene

Entrez Gene Summary for SPATA16 Gene

  • This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]

GeneCards Summary for SPATA16 Gene

SPATA16 (Spermatogenesis Associated 16) is a Protein Coding gene. Diseases associated with SPATA16 include Spermatogenic Failure 6 and Spermatogenic Failure 9. An important paralog of this gene is SPAG1.

UniProtKB/Swiss-Prot Summary for SPATA16 Gene

  • Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPATA16 Gene

Genomics for SPATA16 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPATA16 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
GH03J173141 Promoter 0.3 EPDnew 600.7 +0.0 17 0.1 SPATA16 LOC105374220 ECT2
GH03J173125 Promoter 0.3 EPDnew 600.4 +15.7 15736 0.1 SPATA16 ENSG00000237473 LOC105374220 ECT2
GH03J173110 Enhancer 0.2 Ensembl 11.7 +30.7 30734 0.6 SPATA16 ENSG00000237473 LOC105374220 piR-40250-015 ECT2
GH03J173138 Enhancer 0.5 Ensembl 0.7 +2.3 2334 2.2 NFE2 ZNF316 MAFG NFE2L2 NANOG SPATA16 LOC105374220 ECT2
GH03J173173 Enhancer 0.5 Ensembl ENCODE 0.3 -32.6 -32566 1.2 POLR2A NANOG piR-38129-075 ENSG00000237473 SPATA16 LOC105374224 NLGN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPATA16 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPATA16

Top Transcription factor binding sites by QIAGEN in the SPATA16 gene promoter:
  • Bach2
  • C/EBPalpha
  • IRF-7A
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-4a
  • Pax-6

Genomic Locations for SPATA16 Gene

Genomic Locations for SPATA16 Gene
chr3:172,889,357-173,141,235
(GRCh38/hg38)
Size:
251,879 bases
Orientation:
Minus strand
chr3:172,607,147-172,859,058
(GRCh37/hg19)
Size:
251,912 bases
Orientation:
Minus strand

Genomic View for SPATA16 Gene

Genes around SPATA16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA16 Gene

Proteins for SPATA16 Gene

  • Protein details for SPATA16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXB7-SPT16_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 16
    Protein Accession:
    Q9BXB7
    Secondary Accessions:
    • Q0R0N4
    • Q0R0S0
    • Q0R0W2
    • Q0R129
    • Q0R131
    • Q0R140
    • Q0R1B8
    • Q0R1G5
    • Q0R1I2
    • Q0R1J6
    • Q0R1S4
    • Q0R202
    • Q0R280
    • Q0R2F8
    • Q0R2N6
    • Q0R2N7
    • Q0R2R0
    • Q0R2R1
    • Q0R2S3
    • Q0R2S4
    • Q0R2S5
    • Q0R2T4
    • Q0R2T7
    • Q0R2U2
    • Q0R2U8
    • Q0R2U9
    • Q0R2V5
    • Q0R2V7
    • Q8NE67

    Protein attributes for SPATA16 Gene

    Size:
    569 amino acids
    Molecular mass:
    65263 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Association analysis reveals significant frequency of a synonymous (Ser-225) sequence polymorphism among clinical groups with different sperm traits: the donor group, which has the highest sperm count and motility level, has a significant higher polymorphism frequency compared to normal and asthenozoopermia groups.

neXtProt entry for SPATA16 Gene

Post-translational modifications for SPATA16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPATA16 Gene

No data available for DME Specific Peptides for SPATA16 Gene

Domains & Families for SPATA16 Gene

Gene Families for SPATA16 Gene

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

Protein Domains for SPATA16 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA16 Gene

GenScript: Design optimal peptide antigens:
  • Testis development protein NYD-SP12 (SPT16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXB7

UniProtKB/Swiss-Prot:

SPT16_HUMAN :
  • Belongs to the SPATA16 family.
Family:
  • Belongs to the SPATA16 family.
genes like me logo Genes that share domains with SPATA16: view

Function for SPATA16 Gene

Molecular function for SPATA16 Gene

UniProtKB/Swiss-Prot Function:
Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion.

Phenotypes From GWAS Catalog for SPATA16 Gene

Gene Ontology (GO) - Molecular Function for SPATA16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with SPATA16: view
genes like me logo Genes that share phenotypes with SPATA16: view

Human Phenotype Ontology for SPATA16 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATA16

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPATA16 Gene

Localization for SPATA16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA16 Gene

Golgi apparatus. Note=Localized to the perinuclear region.

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 SPATA16 gene
Compartment Confidence
golgi apparatus 5
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SPATA16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA,IDA 12529416
genes like me logo Genes that share ontologies with SPATA16: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPATA16 Gene

Pathways & Interactions for SPATA16 Gene

PathCards logo

SuperPathways for SPATA16 Gene

No Data Available

Interacting Proteins for SPATA16 Gene

Selected Interacting proteins: Q9BXB7-SPT16_HUMAN for SPATA16 Gene via IID

Gene Ontology (GO) - Biological Process for SPATA16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA,IBA 21873635
GO:0008150 biological_process ND --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA16: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA16 Gene

Drugs & Compounds for SPATA16 Gene

No Compound Related Data Available

Transcripts for SPATA16 Gene

mRNA/cDNA for SPATA16 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATA16

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA16 Gene

No ASD Table

Relevant External Links for SPATA16 Gene

GeneLoc Exon Structure for
SPATA16

Expression for SPATA16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPATA16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for SPATA16 Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for SPATA16 Gene

This gene is overexpressed in Plasma (37.0), Platelet (18.6), and Adipocyte (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA16 Gene



Protein tissue co-expression partners for SPATA16 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPATA16

SOURCE GeneReport for Unigene cluster for SPATA16 Gene:

Hs.444236

mRNA Expression by UniProt/SwissProt for SPATA16 Gene:

Q9BXB7-SPT16_HUMAN
Tissue specificity: Expressed in testis.

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA16 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Regions:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with SPATA16: view

No data available for Evidence on tissue expression from TISSUES for SPATA16 Gene

Orthologs for SPATA16 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA16 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPATA16 30 31
  • 98.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPATA16 30 31
  • 90.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPATA16 30 31
  • 90.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Spata16 30 17 31
  • 81.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SPATA16 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SPATA16 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPATA16 30 31
  • 69.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SPATA16 31
  • 75 (a)
OneToOne
Species where no ortholog for SPATA16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SPATA16 Gene

ENSEMBL:
Gene Tree for SPATA16 (if available)
TreeFam:
Gene Tree for SPATA16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPATA16: view image

Paralogs for SPATA16 Gene

Pseudogenes.org Pseudogenes for SPATA16 Gene

genes like me logo Genes that share paralogs with SPATA16: view

Variants for SPATA16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPATA16 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
710245 Benign: not provided 172,889,572(-) A/G STOP_LOST
710246 Benign: not provided 172,889,573(-) C/G MISSENSE_VARIANT
774303 Conflicting Interpretations: Globozoospermia; not provided 173,117,679(-) T/C MISSENSE_VARIANT
790548 Conflicting Interpretations: Globozoospermia; not provided 173,048,971(-) G/A MISSENSE_VARIANT
900276 Uncertain Significance: Globozoospermia 172,956,762(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SPATA16 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPATA16 Gene

Variant ID Type Subtype PubMed ID
esv2556969 CNV deletion 19546169
esv3598681 CNV loss 21293372
esv3598684 CNV loss 21293372
esv3893815 CNV loss 25118596
nsv1005769 CNV gain 25217958
nsv4119 CNV deletion 18451855
nsv476375 CNV novel sequence insertion 20440878
nsv519482 CNV loss 19592680
nsv7356 OTHER inversion 18451855
nsv829795 CNV gain 17160897

Variation tolerance for SPATA16 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.11; 97.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA16 Gene

Human Gene Mutation Database (HGMD)
SPATA16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA16 Gene

Disorders for SPATA16 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SPATA16 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPT16_HUMAN
  • Spermatogenic failure 6 (SPGF6) [MIM:102530]: An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. {ECO:0000269 PubMed:17847006}. Note=The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive variation of SPATA16 has been shown to be responsible for the disease in a consanguineous family with members homozygous for the variation.

Additional Disease Information for SPATA16

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SPATA16: view

No data available for Genatlas for SPATA16 Gene

Publications for SPATA16 Gene

  1. Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12. (PMID: 12529416) Xu M … Sha J (Molecular human reproduction 2003) 2 3 4 23
  2. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. (PMID: 17847006) Dam AH … Viville S (American journal of human genetics 2007) 2 3 4
  3. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12. (PMID: 17665087) Zhang Q … Su B (Journal of molecular evolution 2007) 3 4

Products for SPATA16 Gene

  • Biorbyt antibodies for SPATA16
  • Signalway Proteins for SPATA16

Sources for SPATA16 Gene