Sequence in raw or FASTA format:
SPATA7 spermatogenesis associated 7 [Homo sapiens (human)]
| Gene Symbol | SPATA7 |
| Entrez Gene ID | 55812 |
| Full Name | spermatogenesis associated 7 |
| Synonyms | DKFZp686D07199, HSD-3.1, HSD3, LCA3, MGC102934 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
14 14q31.3 |
| 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]. |
| Disorder | MIM: 609868 Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa, |
| mRNA | NM_018418, 295789141 |
| Protein | NP_060888, 94536848 |
| Product | spermatogenesis-associated protein 7 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001040428, 295789142 |
| Protein | NP_001035518, 94536850 |
| Product | spermatogenesis-associated protein 7 isoform 2 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | SPATA7 | NP_060888.2 |
| Pan troglodytes (chimpanzee) | SPATA7 | XP_001137651.1 |
| Canis lupus familiaris (dog) | SPATA7 | XP_537532.2 |
| Bos taurus (cattle) | SPATA7 | NP_001092398.1 |
| Mus musculus (house mouse) | Spata7 | NP_849245.2 |
| Rattus norvegicus (Norway rat) | Spata7 | NP_620217.1 |
| Gallus gallus (chicken) | SPATA7 | XP_421307.2 |
| Danio rerio (zebrafish) | si:ch211-51o12.1 | XP_002665136.1 |
| ID | Name | Evidence |
| GO:0007283 | spermatogenesis | IEA |
| GO:0007601 | visual perception | IEA |
| GO:0050896 | response to stimulus | IEA |
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