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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FSIP2
fibrous sheath interacting protein 2
Chromosome 2 Β· 2q32.1
NCBI Gene: 401024Ensembl: ENSG00000188738.16HGNC: HGNC:21675UniProt: Q5CZC0
30PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm axoneme assemblyflagellated sperm motilityprotein localization to ciliumsperm midpieceazoospermianon-syndromic male infertility due to sperm motility disorderrespiratory system diseaseidiopathic pulmonary fibrosis
✦AI Summary

FSIP2 (fibrous sheath interacting protein 2) is essential for sperm flagellar structure and function, with emerging roles in acrosome biogenesis. Located in the sperm fibrous sheath, midpiece, and principal piece, FSIP2 coordinates axonemal assembly and flagellar organization 1. Beyond its structural role, FSIP2 regulates acrosomal protein expression through interaction with proteins including DPY19L2, SPACA1, and HSP90B1, and influences mitochondrial sheath morphology and ATP consumption during spermatogenesis 2. FSIP2 may also function as an intra-flagellar transporter affecting mitochondrial selection 3. Biallelic FSIP2 mutations cause spermatogenic failure 34, manifesting as multiple morphological abnormalities of sperm flagella (MMAF) and asthenoteratozoospermia, characterized by flagellar disassembly, acrosomal hypoplasia, and abnormal mitochondrial sheath extension 23. FSIP2 variants are identified in male infertility cohorts through exome sequencing 45. Clinically, FSIP2-associated infertility responds favorably to assisted reproductive technologies, with intracytoplasmic sperm injection (ICSI) enabling successful pregnancies and live births 36, indicating that FSIP2 mutations cause functional rather than absolute infertility.

Sources cited
1
FSIP2 mutations cause multiple morphological abnormalities of sperm flagella (MMAF)
PMID: 39417902
2
FSIP2 variants identified in cohort of 167 men with primary male infertility using whole exome sequencing
PMID: 39267058
3
FSIP2 interacts with acrosomal proteins and loss-of-function mutations cause acrosomal hypoplasia and flagellar defects
PMID: 35654582
4
FSIP2 variants cause disassembly of fibrous sheath, axonemal defects, abnormal mitochondrial sheaths, and successful ICSI pregnancies
PMID: 36632462
5
FSIP2 identified as NOA-associated gene through whole-genome sequencing in azoospermic males
PMID: 36017582
6
Novel FSIP2 variants cause MMAF with favorable ART and ICSI outcomes including live births
PMID: 39753944
Disease Associationsβ“˜21
azoospermiaOpen Targets
0.59Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
respiratory system diseaseOpen Targets
0.35Weak
idiopathic pulmonary fibrosisOpen Targets
0.35Weak
poisoningOpen Targets
0.35Weak
response to xenobiotic stimulusOpen Targets
0.35Weak
Abnormal sperm morphologyOpen Targets
0.34Weak
oligospermiaOpen Targets
0.34Weak
Reduced sperm motilityOpen Targets
0.34Weak
glomerulonephritisOpen Targets
0.28Weak
non-alcoholic fatty liver diseaseOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
smoking cessationOpen Targets
0.27Weak
Corneal opacityOpen Targets
0.27Weak
intelligenceOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.26Weak
aneurysmOpen Targets
0.25Weak
cutaneous melanomaOpen Targets
0.23Weak
autism spectrum disorderOpen Targets
0.22Weak
attention deficit hyperactivity disorderOpen Targets
0.21Weak
Spermatogenic failure 34UniProt
Pathogenic Variants21
NM_173651.4(FSIP2):c.17848_17851del (p.Thr5950fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 5950
NM_173651.4(FSIP2):c.2680_2693del (p.Asn894fs)Likely pathogenic
Spermatogenic failure 34
β˜…β˜†β˜†β˜†2024β†’ Residue 894
NM_173651.4(FSIP2):c.14299A>T (p.Arg4767Ter)Likely pathogenic
Spermatogenic failure 34
β˜…β˜†β˜†β˜†2023β†’ Residue 4767
NM_173651.4(FSIP2):c.18220C>T (p.Gln6074Ter)Likely pathogenic
Spermatogenic failure 34
β˜…β˜†β˜†β˜†2022β†’ Residue 6074
NM_173651.4(FSIP2):c.9557del (p.Thr3186fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 3186
NM_173651.4(FSIP2):c.1041_1050del (p.Val346_Tyr347insTer)Likely pathogenic
Spermatogenic failure 34
β˜…β˜†β˜†β˜†2021β†’ Residue 346
NM_173651.4(FSIP2):c.2689del (p.Ser897fs)Pathogenic
Oligospermia;Reduced sperm motility;Abnormal sperm morphology
β˜…β˜†β˜†β˜†β†’ Residue 897
NM_173651.4(FSIP2):c.6060del (p.Glu2021fs)Pathogenic
Spermatogenic failure 34
β˜…β˜†β˜†β˜†β†’ Residue 2021
NM_173651.4(FSIP2):c.15982del (p.Ile5328fs)Likely pathogenic
FSIP2-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 5328
NM_173651.4(FSIP2):c.8003C>A (p.Ser2668Ter)Pathogenic
FSIP2-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 2668
NM_173651.4(FSIP2):c.17798C>T (p.Ser5933Phe)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2023β†’ Residue 5933
NM_173651.4(FSIP2):c.5237AAG[1] (p.Glu1747del)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2023β†’ Residue 1747
NM_173651.4(FSIP2):c.5480A>T (p.Asp1827Val)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2023β†’ Residue 1827
NM_173651.4(FSIP2):c.9056T>C (p.Ile3019Thr)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2023β†’ Residue 3019
NM_173651.4(FSIP2):c.19981C>T (p.Arg6661Ter)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2023β†’ Residue 6661
NM_173651.4(FSIP2):c.10823T>C (p.Leu3608Ser)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2023β†’ Residue 3608
NM_173651.4(FSIP2):c.18448G>A (p.Val6150Ile)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2023β†’ Residue 6150
NM_173651.4(FSIP2):c.1607_1616delinsTGT (p.Lys536fs)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2018β†’ Residue 536
NM_173651.4(FSIP2):c.910del (p.Gln304fs)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2018β†’ Residue 304
NM_173651.4(FSIP2):c.16393_16396del (p.Asn5465fs)Pathogenic
Spermatogenic failure 34
β˜†β˜†β˜†β˜†2018β†’ Residue 5465
View on ClinVar β†—
Related Genes
AKAP4Protein interaction80%TMEM212Protein interaction70%TTC21AProtein interaction59%ZMYND12Shared pathway50%BBOF1Shared pathway50%CFAP44Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Brain
63%
Liver
36%
Lung
27%
Heart
17%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
FSIP2AKAP4TMEM212TTC21AZMYND12BBOF1CFAP44
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5CZC0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.65–0.78]
RankingsWhere FSIP2 stands among ~20K protein-coding genes
  • #11,923of 20,598
    Most Researched30
  • #2,166of 5,498
    Most Pathogenic Variants21
  • #6,410of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedFSIP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet Β· 2024
1.00
2
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics Β· 2024
0.90
3
CEP112 coordinates translational regulation of essential fertility genes during spermiogenesis through phase separation in humans and mice.
PMID: 39349455
Nat Commun Β· 2024
0.80
4
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
PMID: 36484990
JAMA Netw Open Β· 2022
0.70
5
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
PMID: 36017582
Andrology Β· 2022
0.60