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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SPEF2
sperm flagellar and cilia associated 2
Chromosome 5 Β· 5p13.2
NCBI Gene: 79925Ensembl: ENSG00000152582.15HGNC: HGNC:26293UniProt: A0A140VKD0
32PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm axoneme assemblysperm flagellumciliumbrain morphogenesisspermatogenic failure 43primary ciliary dyskinesianon-syndromic male infertility due to sperm motility disorderwet macular degeneration
✦AI Summary

SPEF2 (sperm flagellar and cilia associated 2) is essential for proper sperm flagellar development and male fertility. The protein plays a critical role in axoneme assembly, particularly in forming the central pair complex of sperm flagella 12. SPEF2 functions as an adapter protein for dynein-mediated transport during spermatogenesis, facilitating localization of intraflagellar transport protein IFT20 to the manchette, which is crucial for normal sperm head morphology and flagellar development 1. Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF), characterized by absent, short, coiled, or irregular flagella with disrupted axonemal structures and mitochondrial sheath defects 21. Interestingly, SPEF2 mutations also cause primary ciliary dyskinesia (PCD) symptoms including recurrent respiratory infections, demonstrating differential roles in sperm flagella versus respiratory cilia 34. In respiratory cilia, SPEF2 is required for central pair complex formation, and its absence can be used diagnostically for detecting PCD with central pair defects 5. Clinically, SPEF2-related male infertility can be successfully treated with intracytoplasmic sperm injection (ICSI), with favorable pregnancy outcomes reported 64.

Sources cited
1
SPEF2 functions as adapter for dynein-mediated transport and IFT20 localization during spermatogenesis
PMID: 31048344
2
Loss-of-function SPEF2 mutations cause MMAF with disrupted axonemal structures
PMID: 31151990
3
SPEF2 mutations cause both MMAF and PCD symptoms, showing differential roles in flagella vs cilia
PMID: 31942643
4
SPEF2 is required for central pair complex formation in respiratory cilia and can be used for PCD diagnosis
PMID: 31545650
5
SPEF2 variants cause male infertility and PCD with successful ICSI treatment outcomes
PMID: 38568462
6
SPEF2 mutations show favorable ART outcomes with ICSI treatment
PMID: 39753944
Disease Associationsβ“˜21
spermatogenic failure 43Open Targets
0.70Strong
primary ciliary dyskinesiaOpen Targets
0.55Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
wet macular degenerationOpen Targets
0.31Weak
degeneration of macula and posterior poleOpen Targets
0.30Weak
cervical carcinomaOpen Targets
0.30Weak
age-related macular degenerationOpen Targets
0.29Weak
respiratory system diseaseOpen Targets
0.29Weak
allergic diseaseOpen Targets
0.29Weak
Abnormal thrombosisOpen Targets
0.29Weak
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.29Weak
skin cancerOpen Targets
0.28Weak
conjunctival disorderOpen Targets
0.28Weak
COVID-19Open Targets
0.26Weak
severe acute respiratory syndromeOpen Targets
0.26Weak
multinodular goiterOpen Targets
0.26Weak
polycythemiaOpen Targets
0.25Weak
ankylosing spondylitisOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
skin diseaseOpen Targets
0.18Weak
Spermatogenic failure 43UniProt
Pathogenic Variants12
NM_024867.4(SPEF2):c.3949+1G>TLikely pathogenic
SPEF2-related disorder
β˜…β˜†β˜†β˜†2023
NM_024867.4(SPEF2):c.586C>T (p.Gln196Ter)Likely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2023β†’ Residue 196
NM_024867.4(SPEF2):c.2507+5delPathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2020
NM_024867.4(SPEF2):c.2203C>T (p.Gln735Ter)Pathogenic
Spermatogenic failure 43
β˜…β˜†β˜†β˜†β†’ Residue 735
NM_024867.4(SPEF2):c.1795C>T (p.Gln599Ter)Likely pathogenic
SPEF2-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 599
NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter)Pathogenic
Spermatogenic failure 43
β˜†β˜†β˜†β˜†2020β†’ Residue 1368
NM_024867.4(SPEF2):c.4326dup (p.Val1443fs)Pathogenic
Spermatogenic failure 43
β˜†β˜†β˜†β˜†2020β†’ Residue 1443
NM_024867.4(SPEF2):c.2735del (p.Pro912fs)Pathogenic
Spermatogenic failure 43
β˜†β˜†β˜†β˜†2020β†’ Residue 912
NM_024867.4(SPEF2):c.1745-2A>GPathogenic
Spermatogenic failure 43
β˜†β˜†β˜†β˜†2020
NM_024867.4(SPEF2):c.3240del (p.Phe1080fs)Pathogenic
Spermatogenic failure 43
β˜†β˜†β˜†β˜†2020β†’ Residue 1080
NM_024867.4(SPEF2):c.13del (p.Leu5fs)Pathogenic
Spermatogenic failure 43
β˜†β˜†β˜†β˜†2020β†’ Residue 5
NM_024867.4(SPEF2):c.4952del (p.Val1651fs)Pathogenic
Spermatogenic failure 43
β˜†β˜†β˜†β˜†2020β†’ Residue 1651
View on ClinVar β†—
Related Genes
ADKProtein interaction93%CFAP54Protein interaction74%CFAP43Protein interaction74%ARMC2Protein interaction72%SPAG6Protein interaction71%DNAI1Protein interaction71%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
84%
Heart
39%
Lung
35%
Liver
27%
Brain
13%
Gene Interaction Network
Click a node to explore
SPEF2ADKCFAP54CFAP43ARMC2SPAG6DNAI1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9C093
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.70–0.92]
RankingsWhere SPEF2 stands among ~20K protein-coding genes
  • #11,619of 20,598
    Most Researched32
  • #2,708of 5,498
    Most Pathogenic Variants12
  • #8,490of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedSPEF2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
PMID: 34932939
Am J Hum Genet Β· 2022
1.00
2
PMID: 31545650
Am J Respir Cell Mol Biol Β· 2020
0.90
3
Novel variants of FSIP2 and SPEF2 cause varying degrees of spermatozoa damage in MMAF patients and favorable ART outcomes.
PMID: 39753944
J Assist Reprod Genet Β· 2025
0.80
4
Homozygous mutations in
PMID: 31048344
J Med Genet Β· 2020
0.70
5
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.
PMID: 38568462
J Assist Reprod Genet Β· 2024
0.60