SPACA6
protein-codingsperm acrosome associated 6, the group of MicroRNA protein coding host genes
Gene summary
Enables protein-macromolecule adaptor activity. Involved in sperm-egg recognition. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- NCRNA00085
- LINC00085
- SPACA6P
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~24.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SPACA6 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001303901.1 | 9 | MANE Select | |
| Ensembl | ENSP00000490829.1 | 9 | MANE Select | |
| RefSeq | NP_001303923.1 | 9 | Standard | |
| Ensembl | ENSP00000496692.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- fusion of sperm to egg plasma membrane involved in single fertilization
Molecular Function
- protein binding
Cellular Component
- integral component of membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Sperm protein potentially involved sperm-egg fusion. {ECO:0000250|UniProtKB:E9Q8Q8}.;