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Spata7 Gene Detail
Summary
  • Symbol
    Spata7
  • Name
    spermatogenesis associated 7
  • Synonyms
    B230306G18Rik, HSD3
  • Feature Type
    protein coding gene
  • IDs
    MGI:2144877
    NCBI Gene: 104871
  • Gene Overview
    MyGene.info: SPATA7
Location & Maps
more
  • Sequence Map
    Chr12:98628157-98669815 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41659 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 49.88 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SPATA7, spermatogenesis associated 7
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SPATA7, spermatogenesis associated 7
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HEL-S-296, HSD3, HSD-3.1, LCA3
  • Links
    NCBI Gene ID: 55812
    neXtProt AC: NX_Q9P0W8

  • Chr Location
    14q31.3; chr14:88385638-88470350 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Spata7 mouse models; 1 with human SPATA7 associations

Human Disease Mouse Models
       Leber Congenital Amaurosis 3; LCA3   OMIM: 604232 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Spata7
  • Incidental Mutations
Mice homozygous for a null allele display progressive retinal rod cell degeneration, a thin retinal outer nuclear layer and impaired scotopic responses.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023264 VEGA Gene Model | MGI Sequence Detail 41659 C57BL/6J ±  kb
transcript OTTMUST00000056323 VEGA | MGI Sequence Detail 2052 Not Applicable  
polypeptide OTTMUSP00000027056 VEGA | MGI Sequence Detail 582 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    193 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015495 spermatogenesis-associated protein 7
  • InterPro Domains
    IPR029357 Spermatogenesis-associated protein 7
Molecular
Reagents
less
  • All nucleic 32
    cDNA 32

    Microarray probesets 2
Other
Accession IDs
less
MGI:2442828
References
more
  • Summaries
    All 27
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 3
    Phenotypes 5
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:216279 Eblimit A, et al., Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2014 Nov 14;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory