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Aliases for SPATA7 Gene

Aliases for SPATA7 Gene

  • Spermatogenesis Associated 7 2 3 5
  • Spermatogenesis-Associated Protein HSD3 3 4
  • HSD-3.1 3 4
  • HSD3 3 4
  • Epididymis Secretory Protein Li 296 3
  • Leber Congenital Amaurosis 3 2
  • HEL-S-296 3
  • LCA3 3

External Ids for SPATA7 Gene

Previous HGNC Symbols for SPATA7 Gene

  • LCA3

Previous GeneCards Identifiers for SPATA7 Gene

  • GC14P082668
  • GC14P086842
  • GC14P087921
  • GC14P088852
  • GC14P069023
  • GC14P088897

Summaries for SPATA7 Gene

Entrez Gene Summary for SPATA7 Gene

  • This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for SPATA7 Gene

SPATA7 (Spermatogenesis Associated 7) is a Protein Coding gene. Diseases associated with SPATA7 include leber congenital amaurosis 3 and severe early-childhood-onset retinal dystrophy.

UniProtKB/Swiss-Prot for SPATA7 Gene

  • Involved in photoreceptor cells maintenance (By similarity). It is required for recruitement and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity).

Gene Wiki entry for SPATA7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA7 Gene

Genomics for SPATA7 Gene

Regulatory Elements for SPATA7 Gene

Promoters for SPATA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPATA7 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPATA7 Gene

Chromosome:
14
Start:
88,384,924 bp from pter
End:
88,470,350 bp from pter
Size:
85,427 bases
Orientation:
Plus strand

Genomic View for SPATA7 Gene

Genes around SPATA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA7 Gene

Proteins for SPATA7 Gene

  • Protein details for SPATA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0W8-SPAT7_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 7
    Protein Accession:
    Q9P0W8
    Secondary Accessions:
    • Q5BKY5
    • Q8WX30
    • Q96HF3
    • Q9H0X0
    • Q9P0W7

    Protein attributes for SPATA7 Gene

    Size:
    599 amino acids
    Molecular mass:
    67719 Da
    Quaternary structure:
    • Interacts with RPGRIP1 (PubMed:25398945).

    Alternative splice isoforms for SPATA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA7 Gene

Proteomics data for SPATA7 Gene at MOPED

Post-translational modifications for SPATA7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SPATA7 Gene

Domains & Families for SPATA7 Gene

Protein Domains for SPATA7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA7 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPATA7: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SPATA7 Gene

Function for SPATA7 Gene

Molecular function for SPATA7 Gene

UniProtKB/Swiss-Prot Function:
Involved in photoreceptor cells maintenance (By similarity). It is required for recruitement and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity).
genes like me logo Genes that share phenotypes with SPATA7: view

Human Phenotype Ontology for SPATA7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPATA7 Gene

MGI Knock Outs for SPATA7:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SPATA7 Gene

Localization for SPATA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA7 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton. Note=Localizes to the microtubule network (PubMed:25398945). In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). {ECO:0000250 UniProtKB:Q80VP2, ECO:0000269 PubMed:25398945}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPATA7 Gene COMPARTMENTS Subcellular localization image for SPATA7 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
mitochondrion 3
nucleus 3

Gene Ontology (GO) - Cellular Components for SPATA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015630 microtubule cytoskeleton IDA 25398945
GO:0036064 ciliary basal body IDA 25398945
genes like me logo Genes that share ontologies with SPATA7: view

Pathways & Interactions for SPATA7 Gene

SuperPathways for SPATA7 Gene

No Data Available

Interacting Proteins for SPATA7 Gene

Gene Ontology (GO) - Biological Process for SPATA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:1903546 protein localization to photoreceptor outer segment ISS --
genes like me logo Genes that share ontologies with SPATA7: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA7 Gene

Drugs & Compounds for SPATA7 Gene

No Compound Related Data Available

Transcripts for SPATA7 Gene

Unigene Clusters for SPATA7 Gene

Spermatogenesis associated 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA7 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - -
SP9: - - - -
SP10: - - - - - - -
SP11: - - - - -
SP12:
SP13:

ExUns: 14a · 14b ^ 15 ^ 16 ^ 17
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SPATA7 Gene

GeneLoc Exon Structure for
SPATA7
ECgene alternative splicing isoforms for
SPATA7

Expression for SPATA7 Gene

mRNA expression in normal human tissues for SPATA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPATA7 Gene

This gene is overexpressed in Testis (x5.9).

Protein differential expression in normal tissues from HIPED for SPATA7 Gene

This gene is overexpressed in Adrenal (27.7), Esophagus (12.8), Retina (8.6), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA7 Gene



SOURCE GeneReport for Unigene cluster for SPATA7 Gene Hs.525518

genes like me logo Genes that share expression patterns with SPATA7: view

Protein tissue co-expression partners for SPATA7 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SPATA7 Gene

Orthologs for SPATA7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPATA7 35
  • 82.64 (n)
  • 74.16 (a)
SPATA7 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPATA7 35
  • 86.18 (n)
  • 79.1 (a)
SPATA7 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spata7 35
  • 77.28 (n)
  • 69.03 (a)
Spata7 16
Spata7 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPATA7 35
  • 99.12 (n)
  • 97.71 (a)
SPATA7 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spata7 35
  • 77.6 (n)
  • 69.28 (a)
oppossum
(Monodelphis domestica)
Mammalia SPATA7 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
chicken
(Gallus gallus)
Aves SPATA7 35
  • 55.94 (n)
  • 43.66 (a)
SPATA7 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPATA7 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spata7 35
  • 50.62 (n)
  • 41.12 (a)
zebrafish
(Danio rerio)
Actinopterygii spata7 36
  • 29 (a)
OneToOne
Species with no ortholog for SPATA7:
  • 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)
  • 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)

Evolution for SPATA7 Gene

ENSEMBL:
Gene Tree for SPATA7 (if available)
TreeFam:
Gene Tree for SPATA7 (if available)

Paralogs for SPATA7 Gene

No data available for Paralogs for SPATA7 Gene

Variants for SPATA7 Gene

Sequence variations from dbSNP and Humsavar for SPATA7 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs3179969 - 88,396,185(+) TAAGC(A/G)TGAGT reference, missense, utr-variant-5-prime
rs4904448 - 88,385,822(+) GCATG(A/G)ATGGC reference, missense, utr-variant-5-prime
rs35137272 - 88,416,829(+) CTTTT(G/T)AATAC reference, missense
rs17124662 - 88,426,353(+) ATCCA(A/G/T)TAAAG reference, missense
rs17124677 - 88,429,406(+) AGAAG(A/G)GCATG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPATA7 Gene

Variant ID Type Subtype PubMed ID
esv273157 CNV Insertion 20981092
esv268022 CNV Insertion 20981092
esv2619552 CNV Deletion 19546169
esv273099 CNV Insertion 20981092
esv2568808 CNV Deletion 19546169
esv2748992 CNV Deletion 23290073
esv2276274 CNV Deletion 18987734
esv3753 CNV Deletion 18987735
esv2748993 CNV Deletion 23290073
esv994338 CNV Deletion 20482838
nsv84810 CNV Loss 16902084
nsv456391 CNV Gain 19166990

Variation tolerance for SPATA7 Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.13; 93.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA7 Gene

HapMap Linkage Disequilibrium report
SPATA7
Human Gene Mutation Database (HGMD)
SPATA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA7 Gene

Disorders for SPATA7 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SPATA7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPAT7_HUMAN
  • Leber congenital amaurosis 3 (LCA3) [MIM:604232]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:19268277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:19268277}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPATA7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA7
genes like me logo Genes that share disorders with SPATA7: view

No data available for Genatlas for SPATA7 Gene

Publications for SPATA7 Gene

  1. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. (PMID: 19268277) Wang H. … Chen R. (Am. J. Hum. Genet. 2009) 2 3 4 67
  2. A novel locus for Leber congenital amaurosis on chromosome 14q24. (PMID: 9799089) Stockton D.W. … Lupski J.R. (Hum. Genet. 1998) 2 3
  3. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. (PMID: 25814828) Mayer A.K. … Wissinger B. (Mol. Vis. 2015) 3
  4. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M. … Rocchi P. (Mol. Cell Proteomics 2014) 3
  5. The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation. (PMID: 25355311) Hanoun N. … Dufresne M. (J. Biol. Chem. 2014) 3

Products for SPATA7 Gene

Sources for SPATA7 Gene

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