SPATA7: A Key Gene in Retinal Development and Inherited Blindness
Comprehensive genomic and clinical overview of SPATA7, associated with Leber congenital amaurosis and retinitis pigmentosa.
Gene Information Card
| Symbol | SPATA7 |
|---|---|
| Full Name | spermatogenesis associated 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q31.3 |
| NCBI Gene ID | 55812 ncbi.nlm.nih.gov/gene/55812 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9NVE7 |
| OMIM ID | 609868 |
| HGNC ID | 20423 |
| Aliases | LCA3, HSD-3.8, SPATA7 |
Description
SPATA7 (spermatogenesis associated 7) encodes a ciliary protein localized to the connecting cilium of photoreceptors. It is essential for photoreceptor cell survival and retinal function. Biallelic loss-of-function mutations in SPATA7 cause autosomal recessive Leber congenital amaurosis (LCA3) and retinitis pigmentosa (RP). The protein interacts with RPGRIP1 and other ciliary components, playing a role in protein transport within photoreceptor cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis 3 (LCA3) | Biallelic loss-of-function mutations disrupt ciliary transport in photoreceptors, leading to early-onset severe retinal degeneration. | ClinVar, OMIM #604232 |
| Retinitis pigmentosa (RP) | Mutations in SPATA7 cause a recessive form of RP with progressive rod-cone dystrophy. | ClinVar, OMIM #609868 |
| Cone-rod dystrophy | Rare SPATA7 variants have been reported in patients with cone-rod dystrophy phenotype. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 18.5 | High |
| Testis | 12.3 | Medium |
| Brain | 5.2 | Low |
| Kidney | 3.1 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 22.1 | High expression |
| HepG2 (liver) | 2.4 | Low expression |
| HeLa (cervical) | 1.9 | Low expression |
| SH-SY5Y (neuroblastoma) | 4.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.253C>T (p.Arg85*) | Nonsense | Reported in LCA families | Loss of function; premature truncation |
| c.504_505del (p.Glu169Aspfs*2) | Frameshift | Found in RP patients | Loss of function; frameshift and early stop |
| c.1072C>T (p.Arg358*) | Nonsense | Recurrent in LCA3 | Loss of function; truncated protein |
| c.1471C>T (p.Arg491*) | Nonsense | Reported in consanguineous families | Loss of function; no functional protein |
Mutation functional classification
Loss of Function (LOF)
Majority of SPATA7 disease-associated variants are nonsense, frameshift, or splice-site mutations leading to premature termination codons and nonsense-mediated decay, resulting in complete loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SPATA7.
Dominant Negative (DN)
No dominant-negative mechanisms have been described; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary transport and photoreceptor maintenance
• Retinal metabolism and phototransduction
Protein Summary
SPATA7 is a 599-amino-acid protein localized to the connecting cilium of photoreceptors. It contains coiled-coil domains and interacts with RPGRIP1 and other ciliary proteins. The protein is essential for the transport of proteins from the inner segment to the outer segment of photoreceptors. Loss of SPATA7 leads to mislocalization of rhodopsin and other phototransduction components, causing photoreceptor death and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA7 Knockout HEK293 Cell Line | EDJ-KQ14679 | Human | 55812 | Details Get a Quote |
| SPATA7 Knockout A-549 Cell Line | EDJ-KQ46222 | Human | 55812 | Details Get a Quote |
| SPATA7 Knockout HCT 116 Cell Line | EDJ-KQ46224 | Human | 55812 | Details Get a Quote |
| SPATA7 Knockout HeLa Cell Line | EDJ-KQ46225 | Human | 55812 | Details Get a Quote |
