Aliases for SPATA19 Gene

Aliases for SPATA19 Gene

  • Spermatogenesis Associated 19 2 3 5
  • Spermatogenesis-Associated Protein 19, Mitochondrial 3 4
  • Spermatogenic Cell-Specific Gene 1 Protein 3 4
  • Cancer/Testis Antigen 132 2 3
  • Spergen-1 3 4
  • Spergen1 2 3
  • CT132 2 3
  • SPAS1 2 3
  • Testis Secretory Sperm-Binding Protein Li 243mP 3
  • Spermatogenic Specific-Gene1 3
  • Spergen 1 2
  • FLJ25851 2
  • SPERGEN1 4
  • SPATA19 5

External Ids for SPATA19 Gene

Previous GeneCards Identifiers for SPATA19 Gene

  • GC11M133216
  • GC11M133710
  • GC11M129665

Summaries for SPATA19 Gene

GeneCards Summary for SPATA19 Gene

SPATA19 (Spermatogenesis Associated 19) is a Protein Coding gene. Diseases associated with SPATA19 include Multiple Mucosal Neuroma.

UniProtKB/Swiss-Prot Summary for SPATA19 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPATA19 Gene

Genomics for SPATA19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPATA19 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
GH11J133854 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 250.4 -9.2 -9163 1.8 ZIC2 NFE2 KLF17 HSALNG0088341 SPATA19 IGSF9B
GH11J133845 Promoter 0.3 EPDnew 250.7 +0.0 17 0.1 SPATA19 LINC02743 OPCML
GH11J134050 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 8.9 -205.4 -205358 1.6 ZBTB10 CTCF BHLHE40 ZIC2 REST VEZF1 TRIM22 SMC3 RAD21 YY1 JAM3 piR-47675-020 THYN1 SPATA19 B3GAT1 ENSG00000254648 LINC02731 IGSF9B
GH11J133134 Enhancer 0.6 Ensembl 10.8 +710.6 710637 1 CTCF TRIM22 IRF4 SMC3 RAD21 SPI1 ZNF143 XRCC5 YY1 RUNX3 SPATA19 HSALNG0088319 HSALNG0088320 OPCML
GH11J133896 Enhancer 0.6 Ensembl ENCODE 10.1 -50.1 -50063 2.4 BATF POLR2A TCF12 IGSF9B SPATA19 MIR4697 lnc-IGSF9B-13 LOC283172
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPATA19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPATA19

Top Transcription factor binding sites by QIAGEN in the SPATA19 gene promoter:
  • aMEF-2
  • C/EBPalpha
  • CHOP-10
  • E47
  • IRF-1
  • MEF-2A
  • POU2F1
  • POU2F1a
  • RP58
  • Tal-1

Genomic Locations for SPATA19 Gene

Latest Assembly
chr11:133,835,930-133,845,538
(GRCh38/hg38)
Size:
9,609 bases
Orientation:
Minus strand

Previous Assembly
chr11:133,710,526-133,715,408
(GRCh37/hg19 by Entrez Gene)
Size:
4,883 bases
Orientation:
Minus strand

chr11:133,710,526-133,715,433
(GRCh37/hg19 by Ensembl)
Size:
4,908 bases
Orientation:
Minus strand

Genomic View for SPATA19 Gene

Genes around SPATA19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA19 Gene

Proteins for SPATA19 Gene

  • Protein details for SPATA19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5L4-SPT19_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 19, mitochondrial
    Protein Accession:
    Q7Z5L4
    Secondary Accessions:
    • Q8N7A9

    Protein attributes for SPATA19 Gene

    Size:
    167 amino acids
    Molecular mass:
    19186 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPATA19 Gene

Post-translational modifications for SPATA19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPATA19 Gene

No data available for DME Specific Peptides for SPATA19 Gene

Domains & Families for SPATA19 Gene

Gene Families for SPATA19 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATA19 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA19 Gene

GenScript: Design optimal peptide antigens:
  • Spermatogenic cell-specific gene 1 protein (SPT19_HUMAN)
genes like me logo Genes that share domains with SPATA19: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPATA19 Gene

Function for SPATA19 Gene

Molecular function for SPATA19 Gene

UniProtKB/Swiss-Prot Function:
May have a role in spermiogenesis.

Phenotypes From GWAS Catalog for SPATA19 Gene

Phenotypes for SPATA19 Gene

genes like me logo Genes that share phenotypes with SPATA19: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATA19

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPATA19 Gene

Localization for SPATA19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA19 Gene

Mitochondrion outer membrane.

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 SPATA19 gene
Compartment Confidence
mitochondrion 4
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
endosome 1
endoplasmic reticulum 0
cytosol 0

Gene Ontology (GO) - Cellular Components for SPATA19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPATA19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPATA19 Gene

Pathways & Interactions for SPATA19 Gene

PathCards logo

SuperPathways for SPATA19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATA19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA19: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA19 Gene

Drugs & Compounds for SPATA19 Gene

No Compound Related Data Available

Transcripts for SPATA19 Gene

mRNA/cDNA for SPATA19 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 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 SPATA19

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA19 Gene

No ASD Table

Relevant External Links for SPATA19 Gene

GeneLoc Exon Structure for
SPATA19

Expression for SPATA19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPATA19 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 SPATA19 Gene

This gene is overexpressed in Testis (x51.6).

Protein differential expression in normal tissues from HIPED for SPATA19 Gene

This gene is overexpressed in Testis (56.5) and Ovary (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA19 Gene



Protein tissue co-expression partners for SPATA19 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPATA19

SOURCE GeneReport for Unigene cluster for SPATA19 Gene:

Hs.97541

mRNA Expression by UniProt/SwissProt for SPATA19 Gene:

Q7Z5L4-SPT19_HUMAN
Tissue specificity: Expressed specifically in testis.
genes like me logo Genes that share expression patterns with SPATA19: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA19 Gene

Orthologs for SPATA19 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPATA19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPATA19 30 31
  • 99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPATA19 30 31
  • 81.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPATA19 30 31
  • 81.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Spata19 30 17 31
  • 78.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spata19 30
  • 76.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia SPATA19 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SPATA19 31
  • 55 (a)
OneToOne
Species where no ortholog for SPATA19 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 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 SPATA19 Gene

ENSEMBL:
Gene Tree for SPATA19 (if available)
TreeFam:
Gene Tree for SPATA19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPATA19: view image

Paralogs for SPATA19 Gene

No data available for Paralogs for SPATA19 Gene

Variants for SPATA19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPATA19 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2282602 - p.Ala50Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPATA19 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 SPATA19 Gene

Variant ID Type Subtype PubMed ID
esv3628157 CNV gain 21293372
esv3628160 CNV gain 21293372
nsv1046273 CNV gain 25217958

Variation tolerance for SPATA19 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.54; 94.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA19

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA19 Gene

Disorders for SPATA19 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPATA19 Gene - From: COP

Disorder Aliases PubMed IDs
multiple mucosal neuroma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPATA19

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SPATA19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA19 Gene

Publications for SPATA19 Gene

  1. Isolation and expression analysis of the human testis-specific gene, SPERGEN-1, a spermatogenic cell-specific gene-1. (PMID: 12688595) Miyamoto T … Ishikawa M (Journal of assisted reproduction and genetics 2003) 2 3 4
  2. Spata19 is critical for sperm mitochondrial function and male fertility. (PMID: 26265198) Mi Y … Li J (Molecular reproduction and development 2015) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for SPATA19 Gene

Sources for SPATA19 Gene