Homo sapiens Gene: SPATA7

Summary
InnateDB Gene IDBG-14963.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol SPATA7
Gene Name spermatogenesis associated 7
Synonyms HSD-3.1; HSD3; LCA3
Species Homo sapiens
Ensembl Gene ENSG00000042317
Encoded Proteins
IDBP-14965 spermatogenesis associated 7
IDBP-14969 spermatogenesis associated 7
IDBP-243389 spermatogenesis associated 7
IDBP-593040 spermatogenesis associated 7
IDBP-600749 spermatogenesis associated 7
IDBP-589399 spermatogenesis associated 7
IDBP-596025 spermatogenesis associated 7
IDBP-602991 spermatogenesis associated 7
IDBP-599817 spermatogenesis associated 7
IDBP-583327 spermatogenesis associated 7
IDBP-603088 spermatogenesis associated 7
IDBP-597722 spermatogenesis associated 7
IDBP-602549 spermatogenesis associated 7
IDBP-592753 spermatogenesis associated 7
IDBP-598393 spermatogenesis associated 7
IDBP-597005 spermatogenesis associated 7
IDBP-593302 spermatogenesis associated 7
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14: 88851268-88936694
Strand Forward strand
Band q31.3
Transcripts
ENST00000356583  ENSP00000348991
ENST00000045347  ENSP00000045347
ENST00000393545  ENSP00000377176
ENST00000556553  ENSP00000451128
ENST00000554168  ENSP00000451663
ENST00000556870  ENSP00000452359
ENST00000555534  ENSP00000450515
ENST00000557724  ENSP00000452364
ENST00000555715  ENSP00000451181
ENST00000555356  ENSP00000450654
ENST00000554102 
ENST00000555515  ENSP00000450882
ENST00000555401  ENSP00000452435
ENST00000553626 
ENST00000553885  ENSP00000450606
ENST00000557567 
ENST00000557248  ENSP00000451690
ENST00000553908  ENSP00000452546
ENST00000556666 
ENST00000556406  ENSP00000450809
ENST00000553303 
ENST00000554802  ENSP00000451019
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein‑Protein  1
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
Biological Process
GO:0007283 spermatogenesis
GO:0007601 visual perception
GO:0050896 response to stimulus
Cellular Component
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000021007 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000030456 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9P0W8 
TrEMBL G3V287 G3V2E1 G3V2V4 G3V3D2 G3V491 G3V4A9 G3V5H6 G3V5N2 G3V5V8 H0YJ93
UniProt Splice Variant
Entrez Gene 55812 
UniGene
RefSeq NM_001040428  NM_018418 
HUGO 20423 
OMIM 609868
CCDS CCDS32132  CCDS9883 
HPRD 15431
IMGT
EMBL AF144487 AF144488 AL049834 AL136604 AL162171 AL353786 BC008656 BC090875 CH471061
GenPept AAF66077  AAF66078  AAH08656  AAH90875  CAB66539  CAD18999  EAW81380 
ImmGen SPATA7 (murine) 
RNA Seq Atlas 55812