Aliases for SPATA2 Gene

Aliases for SPATA2 Gene

  • Spermatogenesis Associated 2 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 145 2 3
  • Spermatogenesis-Associated Protein 2 3 4
  • PD1 3 4
  • Spermatogenesis-Associated Protein PD1 3
  • Spermatogenesis Associated PD1 3
  • PPP1R145 3
  • KIAA0757 4
  • Tamo 3

External Ids for SPATA2 Gene

Previous GeneCards Identifiers for SPATA2 Gene

  • GC20M048248
  • GC20M049158
  • GC20M049205
  • GC20M047953
  • GC20M048519
  • GC20M045269

Summaries for SPATA2 Gene

GeneCards Summary for SPATA2 Gene

SPATA2 (Spermatogenesis Associated 2) is a Protein Coding gene. Diseases associated with SPATA2 include Autoinflammation, Panniculitis, And Dermatosis Syndrome. Among its related pathways are Necroptosis. An important paralog of this gene is SPATA2L.

UniProtKB/Swiss-Prot Summary for SPATA2 Gene

  • Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-alpha-induced necroptosis (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049). Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC) (PubMed:27458237, PubMed:27545878, PubMed:27591049). Required to activate the 'Met-1'- (linear) and 'Lys-63'-linked deubiquitinase activities of CYLD (PubMed:27458237, PubMed:27591049). Controls the kinase activity of RIPK1 and TNF-alpha-induced necroptosis by promoting 'Met-1'-linked deubiquitination of RIPK1 by CYLD (By similarity).

Gene Wiki entry for SPATA2 Gene

Additional gene information for SPATA2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPATA2 Gene

Genomics for SPATA2 Gene

GeneHancer (GH) Regulatory Elements for SPATA2 Gene

Promoters and enhancers for SPATA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPATA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPATA2

Top Transcription factor binding sites by QIAGEN in the SPATA2 gene promoter:
  • CREB
  • deltaCREB
  • p53

Genomic Locations for SPATA2 Gene

Genomic Locations for SPATA2 Gene
chr20:49,903,391-49,915,543
(GRCh38/hg38)
Size:
12,153 bases
Orientation:
Minus strand
chr20:48,519,928-48,532,080
(GRCh37/hg19)
Size:
12,153 bases
Orientation:
Minus strand

Genomic View for SPATA2 Gene

Genes around SPATA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA2 Gene

Proteins for SPATA2 Gene

  • Protein details for SPATA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM82-SPAT2_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 2
    Protein Accession:
    Q9UM82
    Secondary Accessions:
    • E1P626
    • O94857

    Protein attributes for SPATA2 Gene

    Size:
    520 amino acids
    Molecular mass:
    58427 Da
    Quaternary structure:
    • Interacts (via the PIM motif) with RNF31/HOIP (via the PUB domain); the interaction is direct (PubMed:27458237, PubMed:27545878, PubMed:28189684, PubMed:27591049). Interacts (via the PUB domain) with CYLD; the interaction is direct (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049).
    SequenceCaution:
    • Sequence=BAA34477.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPATA2 Gene

neXtProt entry for SPATA2 Gene

Post-translational modifications for SPATA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPATA2 Gene

No data available for DME Specific Peptides for SPATA2 Gene

Domains & Families for SPATA2 Gene

Gene Families for SPATA2 Gene

Protein Domains for SPATA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA2 Gene

GenScript: Design optimal peptide antigens:
  • Spermatogenesis-associated protein PD1 (SPAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UM82

UniProtKB/Swiss-Prot:

SPAT2_HUMAN :
  • Belongs to the SPATA2 family.
Family:
  • Belongs to the SPATA2 family.
genes like me logo Genes that share domains with SPATA2: view

Function for SPATA2 Gene

Molecular function for SPATA2 Gene

UniProtKB/Swiss-Prot Function:
Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-alpha-induced necroptosis (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049). Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC) (PubMed:27458237, PubMed:27545878, PubMed:27591049). Required to activate the 'Met-1'- (linear) and 'Lys-63'-linked deubiquitinase activities of CYLD (PubMed:27458237, PubMed:27591049). Controls the kinase activity of RIPK1 and TNF-alpha-induced necroptosis by promoting 'Met-1'-linked deubiquitination of RIPK1 by CYLD (By similarity).

Phenotypes From GWAS Catalog for SPATA2 Gene

Gene Ontology (GO) - Molecular Function for SPATA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SPATA2: view
genes like me logo Genes that share phenotypes with SPATA2: view

Animal Models for SPATA2 Gene

MGI Knock Outs for SPATA2:
  • Spata2 Spata2<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for SPATA2 Gene

miRTarBase miRNAs that target SPATA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPATA2 Gene

Localization for SPATA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA2 Gene

Cytoplasm. Nucleus. Note=Detected in the tubular compartment of the testis and, in the cytoplasm of the Sertoli cells. {ECO:0000269 PubMed:11079456}.

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 SPATA2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPATA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 10222154
genes like me logo Genes that share ontologies with SPATA2: view

Pathways & Interactions for SPATA2 Gene

PathCards logo

SuperPathways for SPATA2 Gene

SuperPathway Contained pathways
1 Necroptosis
genes like me logo Genes that share pathways with SPATA2: view

Pathways by source for SPATA2 Gene

1 KEGG pathway for SPATA2 Gene

Gene Ontology (GO) - Biological Process for SPATA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis NAS 10222154
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway IEA,IDA 27307491
GO:0012501 programmed cell death IEA --
GO:0050727 regulation of inflammatory response IDA 27591049
genes like me logo Genes that share ontologies with SPATA2: view

No data available for SIGNOR curated interactions for SPATA2 Gene

Drugs & Compounds for SPATA2 Gene

No Compound Related Data Available

Transcripts for SPATA2 Gene

mRNA/cDNA for SPATA2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 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 SPATA2 Gene

No ASD Table

Relevant External Links for SPATA2 Gene

GeneLoc Exon Structure for
SPATA2

Expression for SPATA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPATA2 Gene

Protein differential expression in normal tissues from HIPED for SPATA2 Gene

This gene is overexpressed in Brain (48.3) and Frontal cortex (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPATA2 Gene



Protein tissue co-expression partners for SPATA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPATA2

SOURCE GeneReport for Unigene cluster for SPATA2 Gene:

Hs.48513

mRNA Expression by UniProt/SwissProt for SPATA2 Gene:

Q9UM82-SPAT2_HUMAN
Tissue specificity: Present at high level in Sertoli cells, but not detected in spermatogenic cells (at protein level) (PubMed:10222154, PubMed:11079456). Low expression in spleen, thymus and prostate (PubMed:10222154).

Evidence on tissue expression from TISSUES for SPATA2 Gene

  • Nervous system(4.7)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with SPATA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA2 Gene

Orthologs for SPATA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA2 31 30
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SPATA2 31 30
  • 89.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPATA2 31 30
  • 85.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spata2 30
  • 85.26 (n)
mouse
(Mus musculus)
Mammalia Spata2 17 31 30
  • 85.21 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATA2 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA2 31 30
  • 65.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPATA2 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spata2 30
  • 64.04 (n)
Str.7351 30
African clawed frog
(Xenopus laevis)
Amphibia MGC64409 30
zebrafish
(Danio rerio)
Actinopterygii spata2 31 30
  • 55.33 (n)
OneToOne
Species where no ortholog for SPATA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPATA2 Gene

ENSEMBL:
Gene Tree for SPATA2 (if available)
TreeFam:
Gene Tree for SPATA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPATA2: view image

Paralogs for SPATA2 Gene

Paralogs for SPATA2 Gene

Pseudogenes.org Pseudogenes for SPATA2 Gene

genes like me logo Genes that share paralogs with SPATA2: view

Variants for SPATA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPATA2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs2072985 - p.Leu443Phe

Additional dbSNP identifiers (rs#s) for SPATA2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPATA2 Gene

Variant ID Type Subtype PubMed ID
esv2722492 CNV deletion 23290073

Variation tolerance for SPATA2 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.34; 70.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA2 Gene

Disorders for SPATA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPATA2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPATA2

genes like me logo Genes that share disorders with SPATA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA2 Gene

Publications for SPATA2 Gene

  1. Decreased linear ubiquitination of NEMO and FADD on apoptosis with caspase-mediated cleavage of HOIP. (PMID: 28189684) Goto E … Tokunaga F (Biochemical and biophysical research communications 2017) 3 4 54
  2. SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC Signaling. (PMID: 27591049) Elliott PR … Gyrd-Hansen M (Molecular cell 2016) 3 4 54
  3. SPATA2-Mediated Binding of CYLD to HOIP Enables CYLD Recruitment to Signaling Complexes. (PMID: 27545878) Kupka S … Walczak H (Cell reports 2016) 3 4 54
  4. SPATA2 links CYLD to the TNF-α receptor signaling complex and modulates the receptor signaling outcomes. (PMID: 27307491) Wagner SA … Choudhary C (The EMBO journal 2016) 3 4 54
  5. SPATA2 promotes CYLD activity and regulates TNF-induced NF-κB signaling and cell death. (PMID: 27458237) Schlicher L … Maurer U (EMBO reports 2016) 3 4 54

Products for SPATA2 Gene

Sources for SPATA2 Gene