SPEF2 sperm flagellar 2
Gene ID: 79925, updated on 17-Jun-2024Gene type: protein coding
Also known as: KPL2; CT122; SPGF43
- See all available tests in GTR for this gene
- Go to complete Gene record for SPEF2
- Go to Variation Viewer for SPEF2 variants
Summary
Involved in sperm axoneme assembly. Located in sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available | |
| Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. GeneReviews: Not available | |
| Spermatogenic failure 43 | See labs |
Genomic context
- Location:
- 5p13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (35617863..35814611)
- Total number of exons:
- 46
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPEF2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.