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Aliases for SPATA5 Gene

Aliases for SPATA5 Gene

  • Spermatogenesis Associated 5 2 3 5
  • Spermatogenesis-Associated Factor Protein 3 4
  • ATPase Family Protein 2 Homolog 3 4
  • AFG2 3 4
  • SPAF 3 4
  • ATPase Family Gene 2 Homolog (S. Cerevisiae) 2
  • Spermatogenesis Associated Factor SPAF 3
  • Spermatogenesis-Associated Protein 5 3
  • ATPase Family Gene 2 Homolog 3
  • EHLMRS 3

External Ids for SPATA5 Gene

Previous GeneCards Identifiers for SPATA5 Gene

  • GC00U991164
  • GC04P124123
  • GC04P124237
  • GC04P124303
  • GC04P124201
  • GC04P123844
  • GC04P119570

Summaries for SPATA5 Gene

Entrez Gene Summary for SPATA5 Gene

  • This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for SPATA5 Gene

SPATA5 (Spermatogenesis Associated 5) is a Protein Coding gene. Diseases associated with SPATA5 include Epilepsy, Hearing Loss, And Mental Retardation Syndrome and Heart Conduction Disease. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is SPATA5L1.

UniProtKB/Swiss-Prot for SPATA5 Gene

  • May be involved in morphological and functional mitochondrial transformations during spermatogenesis.

Gene Wiki entry for SPATA5 Gene

Additional gene information for SPATA5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA5 Gene

Genomics for SPATA5 Gene

GeneHancer (GH) Regulatory Elements for SPATA5 Gene

Promoters and enhancers for SPATA5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I122920 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.4 -413 3.8 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 SP3 SP5 NUDT6 SPATA5 ENSG00000237868 FGF2 ENSG00000273007
GH04I122731 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 26.2 -189.9 -189867 2.9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B ZNF143 FOS CETN4P BBS12 EXOSC9 SPATA5 KIAA1109 BBS7 ENSG00000273007 TRPC3 LOC727709
GH04I123348 Enhancer 1.2 Ensembl ENCODE 24.7 +426.9 426854 2.4 PKNOX1 SMAD1 FOXA2 ARNT SIN3A ZNF766 E2F8 REST ZNF592 MEF2D SPATA5 NUDT6 LINC01091 LOC105377404 SPRY1 GC04P123213
GH04I122763 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -158.3 -158265 4 PKNOX1 FOXA2 ARNT DMAP1 IRF4 GTF3C2 TCF12 FOS ATF7 RUNX3 CETN4P FGF2 BBS12 NUDT6 SPATA5 CCNA2 LOC727709 RPL34P12
GH04I122699 Enhancer 1.1 Ensembl ENCODE 15.7 -222.8 -222777 1 HDGF PKNOX1 ATF1 POLR2B ZNF766 CBX5 GATA2 ATF7 REST ZNF518A BBS12 SPATA5 EXOSC9 ENSG00000237868 FGF2 IL21-AS1 CETN4P IL21
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPATA5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPATA5 gene promoter:

Genomic Locations for SPATA5 Gene

Genomic Locations for SPATA5 Gene
396,381 bases
Plus strand

Genomic View for SPATA5 Gene

Genes around SPATA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA5 Gene

Proteins for SPATA5 Gene

  • Protein details for SPATA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Spermatogenesis-associated protein 5
    Protein Accession:
    Secondary Accessions:
    • C9JT97
    • Q86XW1
    • Q8NI20
    • Q8TDL7

    Protein attributes for SPATA5 Gene

    893 amino acids
    Molecular mass:
    97904 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SPATA5 Gene


neXtProt entry for SPATA5 Gene

Post-translational modifications for SPATA5 Gene

  • Ubiquitination at posLast=189189, posLast=311311, isoforms=2, 3374, isoforms=2, 3380, posLast=461461, isoforms=2693, and posLast=887887
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPATA5 Gene

Domains & Families for SPATA5 Gene

Gene Families for SPATA5 Gene

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

Suggested Antigen Peptide Sequences for SPATA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AAA ATPase family. AFG2 subfamily.
  • Belongs to the AAA ATPase family. AFG2 subfamily.
genes like me logo Genes that share domains with SPATA5: view

Function for SPATA5 Gene

Molecular function for SPATA5 Gene

UniProtKB/Swiss-Prot Function:
May be involved in morphological and functional mitochondrial transformations during spermatogenesis.

Phenotypes From GWAS Catalog for SPATA5 Gene

Gene Ontology (GO) - Molecular Function for SPATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SPATA5: view
genes like me logo Genes that share phenotypes with SPATA5: view

Human Phenotype Ontology for SPATA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPATA5 Gene

MGI Knock Outs for SPATA5:

Animal Model Products

miRNA for SPATA5 Gene

miRTarBase miRNAs that target SPATA5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPATA5 Gene

Localization for SPATA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA5 Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

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 SPATA5 gene
Compartment Confidence
mitochondrion 4
cytosol 4
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SPATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with SPATA5: view

Pathways & Interactions for SPATA5 Gene

genes like me logo Genes that share pathways with SPATA5: view

Pathways by source for SPATA5 Gene

1 KEGG pathway for SPATA5 Gene

Gene Ontology (GO) - Biological Process for SPATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007420 brain development IMP 26299366
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA5: view

No data available for SIGNOR curated interactions for SPATA5 Gene

Drugs & Compounds for SPATA5 Gene

No Compound Related Data Available

Transcripts for SPATA5 Gene

Unigene Clusters for SPATA5 Gene

Spermatogenesis associated 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - -
SP2: -

Relevant External Links for SPATA5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPATA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPATA5 Gene

This gene is overexpressed in Serum (40.2) and Lung (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPATA5 Gene

Protein tissue co-expression partners for SPATA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATA5 Gene:


SOURCE GeneReport for Unigene cluster for SPATA5 Gene:


Evidence on tissue expression from TISSUES for SPATA5 Gene

  • Liver(4.3)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • head
  • skull
  • chest wall
  • abdominal wall
  • spinal cord
genes like me logo Genes that share expression patterns with SPATA5: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPATA5 Gene

Orthologs for SPATA5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPATA5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SPATA5 33 34
  • 99.51 (n)
(Canis familiaris)
Mammalia SPATA5 33 34
  • 88.15 (n)
(Bos Taurus)
Mammalia SPATA5 33 34
  • 88.1 (n)
(Mus musculus)
Mammalia Spata5 33 16 34
  • 85.35 (n)
(Rattus norvegicus)
Mammalia Spata5 33
  • 85.03 (n)
(Monodelphis domestica)
Mammalia SPATA5 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia SPATA5 34
  • 51 (a)
(Gallus gallus)
Aves SPATA5 33
  • 69.68 (n)
SPRY1 34
  • 63 (a)
(Anolis carolinensis)
Reptilia SPATA5 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia spata5 33
  • 66.63 (n)
Str.17777 33
(Danio rerio)
Actinopterygii LOC100332622 33
  • 61.4 (n)
CABZ01085878.1 34
  • 56 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5776 34 33
  • 53.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012655 33
  • 50.43 (n)
(Caenorhabditis elegans)
Secernentea cdc-48.3 34
  • 35 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER065C 33
  • 50.06 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG2 34 36
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9577 33
Species where no ortholog for SPATA5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 (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)
  • wheat (Triticum aestivum)

Evolution for SPATA5 Gene

Gene Tree for SPATA5 (if available)
Gene Tree for SPATA5 (if available)

Paralogs for SPATA5 Gene

Paralogs for SPATA5 Gene

(13) SIMAP similar genes for SPATA5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPATA5: view

Variants for SPATA5 Gene

Sequence variations from dbSNP and Humsavar for SPATA5 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs139089747 benign, Epilepsy, hearing loss, and mental retardation syndrome 122,934,722(+) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs140187138 likely-benign, Epilepsy, hearing loss, and mental retardation syndrome 122,947,361(+) G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs141576468 likely-pathogenic, uncertain-significance, not provided, Epilepsy, hearing loss, and mental retardation syndrome 123,056,388(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs143384152 likely-benign, Epilepsy, hearing loss, and mental retardation syndrome 122,934,357(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs143957561 uncertain-significance, Epilepsy, hearing loss, and mental retardation syndrome 122,947,396(+) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA5 Gene

Variant ID Type Subtype PubMed ID
dgv1022e214 CNV loss 21293372
dgv973e199 CNV deletion 23128226
esv2543745 CNV deletion 19546169
esv2673720 CNV deletion 23128226
esv275210 CNV loss 21479260
esv275520 CNV gain+loss 21479260
esv2759280 CNV gain 17122850
esv3304263 CNV mobile element insertion 20981092
esv3309644 CNV mobile element insertion 20981092
esv3399067 CNV insertion 20981092
esv3412493 CNV duplication 20981092
esv3602038 CNV loss 21293372
esv3602041 CNV loss 21293372
esv3894022 CNV gain 25118596
nsv1129249 CNV insertion 24896259
nsv1139302 CNV deletion 24896259
nsv4497 CNV deletion 18451855
nsv507197 OTHER sequence alteration 20534489
nsv508310 CNV deletion 20534489
nsv830046 CNV gain 17160897
nsv964093 CNV duplication 23825009

Variation tolerance for SPATA5 Gene

Residual Variation Intolerance Score: 7.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA5 Gene

Disorders for SPATA5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPATA5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, hearing loss, and mental retardation syndrome
  • ehlmrs
heart conduction disease
  • heart rhythm disease
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards


  • Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]: An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. {ECO:0000269 PubMed:26299366}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SPATA5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPATA5: view

No data available for Genatlas for SPATA5 Gene

Publications for SPATA5 Gene

  1. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. (PMID: 26299366) Tanaka AJ … Chung WK (American journal of human genetics 2015) 3 4 58
  2. 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 44 58
  3. FGF signaling inhibitor, SPRY4, is evolutionarily conserved target of WNT signaling pathway in progenitor cells. (PMID: 16465403) Katoh Y … Katoh M (International journal of molecular medicine 2006) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. (PMID: 28293831) Szczałuba K … Płoski R (Advances in experimental medicine and biology 2017) 3 58

Products for SPATA5 Gene

Sources for SPATA5 Gene

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