Identity
HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
CT122,KPL2,SPGF43
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79925
MIM: 610172
HGNC: 26293
Ensembl: ENSG00000152582
Variants:
dbSNP: 79925
ClinVar: 79925
TCGA: ENSG00000152582
COSMIC: SPEF2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38568462 | 2024 | Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. | 0 |
| 38568462 | 2024 | Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. | 0 |
| 34755699 | 2022 | Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans. | 5 |
| 34755699 | 2022 | Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans. | 5 |
| 31048344 | 2020 | Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. | 31 |
| 31545650 | 2020 | SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. | 36 |
| 31942643 | 2020 | Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. | 31 |
| 31048344 | 2020 | Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. | 31 |
| 31545650 | 2020 | SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. | 36 |
| 31942643 | 2020 | Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. | 31 |
| 31151990 | 2019 | Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). | 30 |
| 31278745 | 2019 | Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. | 11 |
| 31151990 | 2019 | Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). | 30 |
| 31278745 | 2019 | Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. | 11 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
SPEF2 (sperm flagellar 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74169/spef2-(sperm-flagellar-2)
