Aliases for SPATA20 Gene

Aliases for SPATA20 Gene

  • Spermatogenesis Associated 20 2 3 5
  • Spermatogenesis-Associated Protein 20 3 4
  • Sperm-Specific Protein 411 3 4
  • SSP411 2 3
  • Tisp78 2 3
  • Transcript Increased In Spermiogenesis 78 3
  • Epididymis Secretory Protein Li 98 3
  • Hypothetical Protein FLJ21347 2
  • Sperm Protein SSP411 3
  • HEL-S-98 3
  • FLJ21347 2
  • SPATA20 5
  • Ssp411 4

External Ids for SPATA20 Gene

Previous GeneCards Identifiers for SPATA20 Gene

  • GC17P045980
  • GC17P048624
  • GC17P043992

Summaries for SPATA20 Gene

GeneCards Summary for SPATA20 Gene

SPATA20 (Spermatogenesis Associated 20) is a Protein Coding gene. Diseases associated with SPATA20 include Common Bile Duct Disease and Choledocholithiasis.

UniProtKB/Swiss-Prot Summary for SPATA20 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPATA20 Gene

Genomics for SPATA20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPATA20 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
GH17J050546 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 356.3 +4.4 4403 1.9 ZNF207 MYC ZNF654 ZNF600 ZNF580 ZMYM3 KLF9 POLR2A CEBPA ZNF223 SPATA20 HSALNG0117321 piR-60051-043 LUC7L3 piR-62019 CACNA1G
GH17J050539 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 287.8 -1.0 -991 4.9 MYC ZNF600 SSRP1 ZNF580 ZMYM3 KLF9 ZIC2 CHD4 MXD4 NONO SPATA20 HSALNG0117319 ENSG00000262837 MBTD1 ENSG00000204584 LOC105371824 EPN3 COL1A1 FAM117A UTP18
GH17J050558 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 91 +17.4 17363 4.4 SP1 ZNF600 POLR2A ZIC2 ZBTB10 MXD4 MBD2 HOMEZ SIN3A ZNF513 CACNA1G CACNA1G-AS1 SPATA20 piR-62019
GH17J050550 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 44.6 +8.0 7957 1.2 ZNF654 MYC SSRP1 CEBPA MXD4 REST BHLHE40 CTCF SIN3A RAD51 piR-62019 SPATA20 HSALNG0117321 CACNA1G
GH17J050556 Enhancer 0.7 Ensembl ENCODE 66.7 +13.9 13869 0.5 NFIC ZNF341 RXRA HNF4A PRDM10 NFIB SP1 SPATA20 EPN3 CACNA1G piR-62019 CACNA1G-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPATA20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPATA20

Top Transcription factor binding sites by QIAGEN in the SPATA20 gene promoter:
  • c-Myc
  • E2F
  • E2F-1
  • HEN1
  • HOXA9
  • HOXA9B
  • Max
  • Pax-5
  • USF-1
  • USF1

Genomic Locations for SPATA20 Gene

Latest Assembly
chr17:50,543,058-50,555,852
(GRCh38/hg38)
Size:
12,795 bases
Orientation:
Plus strand

Previous Assembly
chr17:48,624,535-48,633,213
(GRCh37/hg19 by Entrez Gene)
Size:
8,679 bases
Orientation:
Plus strand

chr17:48,620,419-48,633,213
(GRCh37/hg19 by Ensembl)
Size:
12,795 bases
Orientation:
Plus strand

Genomic View for SPATA20 Gene

Genes around SPATA20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA20 Gene

Proteins for SPATA20 Gene

  • Protein details for SPATA20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB22-SPT20_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 20
    Protein Accession:
    Q8TB22
    Secondary Accessions:
    • Q2TA99
    • Q2XUZ6
    • Q6P0P1
    • Q8WVW3
    • Q9H747

    Protein attributes for SPATA20 Gene

    Size:
    786 amino acids
    Molecular mass:
    87899 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SPATA20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA20 Gene

Post-translational modifications for SPATA20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPATA20 Gene

Domains & Families for SPATA20 Gene

Gene Families for SPATA20 Gene

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

Protein Domains for SPATA20 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF255

Suggested Antigen Peptide Sequences for SPATA20 Gene

GenScript: Design optimal peptide antigens:
  • Sperm-specific protein 411 (SPT20_HUMAN)
genes like me logo Genes that share domains with SPATA20: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPATA20 Gene

Function for SPATA20 Gene

Molecular function for SPATA20 Gene

UniProtKB/Swiss-Prot Function:
May play a role in fertility regulation.

Phenotypes From GWAS Catalog for SPATA20 Gene

Gene Ontology (GO) - Molecular Function for SPATA20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
genes like me logo Genes that share ontologies with SPATA20: view
genes like me logo Genes that share phenotypes with SPATA20: view

miRNA for SPATA20 Gene

miRTarBase miRNAs that target SPATA20

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATA20

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA20 Gene

Localization for SPATA20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA20 Gene

Secreted.

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 SPATA20 gene
Compartment Confidence
extracellular 3
nucleus 3
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SPATA20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with SPATA20: view

Pathways & Interactions for SPATA20 Gene

PathCards logo

SuperPathways for SPATA20 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATA20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA20: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA20 Gene

Drugs & Compounds for SPATA20 Gene

No Compound Related Data Available

Transcripts for SPATA20 Gene

mRNA/cDNA for SPATA20 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATA20

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA20 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11 ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - -
SP5: - -
SP6: - - - - - - - -
SP7: - - - -
SP8:
SP9: - - - - - - - - -
SP10: - - - - - -
SP11: - -
SP12:
SP13: - - - - - - - -
SP14: - - - - - -
SP15: - - - - - - - -
SP16: -
SP17:
SP18:
SP19:
SP20: - - - - -
SP21: -
SP22:
SP23: -
SP24: - - - - - - - -
SP25:

ExUns: 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b · 16c · 16d ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - -
SP17:
SP18: - - -
SP19:
SP20:
SP21:
SP22: - -
SP23:
SP24:
SP25: - -

Relevant External Links for SPATA20 Gene

GeneLoc Exon Structure for
SPATA20

Expression for SPATA20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPATA20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPATA20 Gene

This gene is overexpressed in Adrenal (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPATA20 Gene



Protein tissue co-expression partners for SPATA20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPATA20

SOURCE GeneReport for Unigene cluster for SPATA20 Gene:

Hs.103147

Evidence on tissue expression from TISSUES for SPATA20 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Intestine(4.3)
  • Pancreas(4.2)
  • Heart(2.1)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with SPATA20: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA20 Gene

Orthologs for SPATA20 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPATA20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPATA20 29 30
  • 99.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPATA20 29 30
  • 90.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPATA20 29
  • 89.15 (n)
Rat
(Rattus norvegicus)
Mammalia Spata20 29
  • 84.55 (n)
Mouse
(Mus musculus)
Mammalia Spata20 29 16 30
  • 84.37 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 67 (a)
OneToMany
-- 30
  • 62 (a)
OneToMany
-- 30
  • 60 (a)
OneToMany
-- 30
  • 60 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SPATA20 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPATA20 29 30
  • 67.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SPATA20 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia spata20 29
  • 60.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii spata20 29 30
  • 60.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008252 29
  • 51.98 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8613 29 30
  • 51.97 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea B0495.5 29 30
  • 47.18 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G03200 29
  • 49.33 (n)
Rice
(Oryza sativa)
Liliopsida Os.23695 29
Species where no ortholog for SPATA20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SPATA20 Gene

ENSEMBL:
Gene Tree for SPATA20 (if available)
TreeFam:
Gene Tree for SPATA20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPATA20: view image
Alliance of Genome Resources:
Additional Orthologs for SPATA20

Paralogs for SPATA20 Gene

(1) SIMAP similar genes for SPATA20 Gene using alignment to 6 proteins:

  • SPT20_HUMAN
  • D6R947_HUMAN
  • D6RC70_HUMAN
  • D6RIU6_HUMAN
  • H0Y9M1_HUMAN
  • H0Y9W3_HUMAN

Pseudogenes.org Pseudogenes for SPATA20 Gene

genes like me logo Genes that share paralogs with SPATA20: view

No data available for Paralogs for SPATA20 Gene

Variants for SPATA20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPATA20 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs8065903 -- p.Lys609Arg
rs8076632 -- p.Gln88Glu
rs9913430 -- p.Ser483Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPATA20 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SPATA20 Gene

Variant ID Type Subtype PubMed ID
esv2625984 CNV deletion 19546169
nsv833477 CNV loss 17160897

Variation tolerance for SPATA20 Gene

Residual Variation Intolerance Score: 56.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.12; 96.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA20
Leiden Open Variation Database (LOVD)
SPATA20

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA20 Gene

Disorders for SPATA20 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SPATA20 Gene - From: COP

Disorder Aliases PubMed IDs
common bile duct disease
  • common bile duct diseases
choledocholithiasis
klatskin's tumor
  • hilar cholangiocarcinoma
spermatogenic failure 9
  • spgf9
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPATA20

genes like me logo Genes that share disorders with SPATA20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA20 Gene

Publications for SPATA20 Gene

  1. Comparative proteomic profiling of human bile reveals SSP411 as a novel biomarker of cholangiocarcinoma. (PMID: 23118872) Shen J … Li X (PloS one 2012) 2 3
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Cloning and characterization of rat spermatid protein SSP411: a thioredoxin-like protein. (PMID: 15223837) Shi HJ … Chen CL (Journal of andrology 2004) 3 22
  5. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3

Products for SPATA20 Gene

Sources for SPATA20 Gene