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Aliases for SPATA48 Gene

Aliases for SPATA48 Gene

  • Spermatogenesis Associated 48 2 3
  • C7orf72 3 4 5
  • Chromosome 7 Open Reading Frame 72 2 5
  • Uncharacterized Protein C7orf72 3

External Ids for SPATA48 Gene

Previous HGNC Symbols for SPATA48 Gene

  • C7orf72

Summaries for SPATA48 Gene

GeneCards Summary for SPATA48 Gene

SPATA48 (Spermatogenesis Associated 48) is a Protein Coding gene.

Additional gene information for SPATA48 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA48 Gene

Genomics for SPATA48 Gene

Regulatory Elements for SPATA48 Gene

Enhancers for SPATA48 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H050145 1.1 FANTOM5 ENCODE 30 +52.4 52365 5 HDGF PKNOX1 NFIB CHD4 CEBPG EBF1 BATF RELA POLR2A EED SPATA48 ZPBP IKZF1 ENSG00000228005 ENSG00000231681
GH07H050067 0.9 Ensembl ENCODE 29.1 -26.7 -26721 2 SMARCE1 CTCF PKNOX1 HLF REST GATA3 IKZF1 PRDM1 TRIM28 SETDB1 SPATA48 ZPBP GNL2P1
GH07H050381 1.5 VISTA dbSUPER 10.1 +286.3 286253 0 RNU6-1091P ENSG00000228005 ZPBP SPATA48 GC07P050382 IKZF1
GH07H050392 1.3 FANTOM5 ENCODE dbSUPER 10.4 +299.8 299801 6 KLF1 ZMYM3 JUNB BMI1 EBF1 DPF2 BATF RELA ZNF217 FOSL1 FIGNL1 ENSG00000228005 ZPBP SPATA48 IKZF1 GC07P050382 GC07P050435
GH07H050179 1.2 VISTA 10.8 +84.4 84420 0 ENSG00000228005 ZPBP SPATA48 ENSG00000231681
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPATA48 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPATA48 Gene

Chromosome:
7
Start:
50,095,861 bp from pter
End:
50,159,830 bp from pter
Size:
63,970 bases
Orientation:
Plus strand

Genomic View for SPATA48 Gene

Genes around SPATA48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA48 Gene

Proteins for SPATA48 Gene

  • Protein details for SPATA48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4D263-CG072_HUMAN
    Recommended name:
    Uncharacterized protein C7orf72
    Protein Accession:
    A4D263
    Secondary Accessions:
    • A6NDX9

    Protein attributes for SPATA48 Gene

    Size:
    438 amino acids
    Molecular mass:
    49672 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPATA48 Gene

Post-translational modifications for SPATA48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPATA48 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPATA48 Gene

Domains & Families for SPATA48 Gene

Gene Families for SPATA48 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATA48 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPATA48: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SPATA48 Gene

Function for SPATA48 Gene

Phenotypes From GWAS Catalog for SPATA48 Gene

Gene Ontology (GO) - Molecular Function for SPATA48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SPATA48: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPATA48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPATA48 Gene

Localization for SPATA48 Gene

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 SPATA48 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPATA48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with SPATA48: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for SPATA48 Gene

Pathways & Interactions for SPATA48 Gene

SuperPathways for SPATA48 Gene

No Data Available

Interacting Proteins for SPATA48 Gene

Gene Ontology (GO) - Biological Process for SPATA48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SPATA48: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA48 Gene

Drugs & Compounds for SPATA48 Gene

No Compound Related Data Available

Transcripts for SPATA48 Gene

mRNA/cDNA for SPATA48 Gene

(3) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPATA48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA48 Gene

No ASD Table

Relevant External Links for SPATA48 Gene

GeneLoc Exon Structure for
SPATA48
ECgene alternative splicing isoforms for
SPATA48

Expression for SPATA48 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPATA48 Gene:

SPATA48
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA48 Gene

Orthologs for SPATA48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7H7orf72 33
  • 99.47 (n)
C7orf72 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C4H7orf72 33
  • 86.76 (n)
C7orf72 34
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1309870 33
  • 80.98 (n)
mouse
(Mus musculus)
Mammalia 4930415F15Rik 34 33
  • 80.31 (n)
OneToOne
Spata48 16
dog
(Canis familiaris)
Mammalia C7orf72 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf72 34
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C7orf72 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H7orf72 33
  • 62.89 (n)
C7orf72 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491044 33
  • 51.72 (n)
Species where no ortholog for SPATA48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for SPATA48 Gene

ENSEMBL:
Gene Tree for SPATA48 (if available)
TreeFam:
Gene Tree for SPATA48 (if available)

Paralogs for SPATA48 Gene

No data available for Paralogs for SPATA48 Gene

Variants for SPATA48 Gene

Sequence variations from dbSNP and Humsavar for SPATA48 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000000584 -- 50,094,801(+) ACCCT(C/T)GACAG upstream-variant-2KB
rs1000055926 -- 50,135,091(+) GGTTG(C/T)GTGCT intron-variant
rs1000077558 -- 50,140,621(+) AGTAC(A/C)TTATC intron-variant
rs1000078502 -- 50,109,072(+) AGTTG(A/C)TTTAG intron-variant
rs1000102925 -- 50,123,970(+) AAGAC(A/T)CAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA48 Gene

Variant ID Type Subtype PubMed ID
esv1003850 CNV deletion 20482838
esv3302485 CNV tandem duplication 20981092
esv3393617 CNV insertion 20981092
nsv1114936 CNV deletion 24896259
nsv1117712 CNV deletion 24896259
nsv606897 CNV gain 21841781
nsv830997 CNV gain 17160897
nsv830998 CNV loss 17160897

Variation tolerance for SPATA48 Gene

Gene Damage Index Score: 9.08; 87.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA48 Gene

Disorders for SPATA48 Gene

Relevant External Links for SPATA48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA48
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA48

No disorders were found for SPATA48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPATA48 Gene

Publications for SPATA48 Gene

  1. Fidgetin-like1 is a strong candidate for a dynamic impairment of male meiosis leading to reduced testis weight in mice. (PMID: 22110678) L'Hôte D … Vaiman D (PloS one 2011) 2 3 60
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60
  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 60

Products for SPATA48 Gene

Sources for SPATA48 Gene

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