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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SYCP2
synaptonemal complex protein 2
Chromosome 20 Β· 20q13.33
NCBI Gene: 10388Ensembl: ENSG00000196074.13HGNC: HGNC:11490UniProt: Q9BX26
16PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lateral elementcondensed chromosome, centromeric regionsynaptonemal complex assemblyreciprocal meiotic recombinationspermatogenic failure 1azoospermiaCryptozoospermianeurodegenerative disease
✦AI Summary

SYCP2 encodes a major component of the axial/lateral elements of synaptonemal complexes essential for meiotic chromosome 20 and fertility. During meiotic prophase I, SYCP2 plays a critical role in homologous chromosome 20, crossover formation, and sex chromosome 20 1. The protein requires SYCP3 for proper incorporation into synaptonemal complexes and is necessary for normal spermatogenesis and oogenesis. Loss-of-function variants in SYCP2 cause male infertility through meiotic arrest, with both autosomal dominant 23 and autosomal recessive inheritance patterns 4 reported. Heterozygous frameshift variants cause severe oligozoospermia and cryptozoospermia 23, while homozygous variants lead to complete spermatogenic arrest at the zygotene stage 4. SYCP2 deficiency in female mice contributes to androgenetic hydatidiform mole formation through meiotic spindle positioning defects 5. Beyond reproductive function, SYCP2 is aberrantly expressed in HPV-positive cancers, where it serves as part of a germ cell-like transcriptional program that characterizes oncogenic HPV transformation 6. Clinically, SYCP2 shows promise as a diagnostic biomarker for cervical lesions 7 and qualifies for inclusion in male infertility genetic testing panels 3.

Sources cited
1
HSF5 regulates SYCP2 transcription and SYCP2 is involved in synapsis during meiotic progression
PMID: 38958533
2
SYCP2 frameshift variants cause male infertility with severe oligozoospermia and cryptozoospermia
PMID: 31866047
3
Novel SYCP2 loss-of-function variants cause autosomal dominant male infertility and qualify SYCP2 for diagnostic gene panels
PMID: 39202451
4
Homozygous SYCP2 frameshift variant causes meiotic arrest at zygotene stage and autosomal recessive inheritance pattern
PMID: 37337432
5
SYCP2 deficiency contributes to androgenetic hydatidiform mole formation through meiotic defects
PMID: 39545410
6
SYCP2 is part of a germ cell-like transcriptional program conserved in HPV-positive cancers
PMID: 36213965
7
SYCP2 shows diagnostic potential for cervical lesions and correlates with HPV-positive cervical cancer
PMID: 41182523
Disease Associationsβ“˜21
spermatogenic failure 1Open Targets
0.58Moderate
azoospermiaOpen Targets
0.49Moderate
CryptozoospermiaOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.32Weak
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.28Weak
Spermatocyte maturation arrestOpen Targets
0.27Weak
adolescent idiopathic scoliosisOpen Targets
0.11Weak
food allergyOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
breast carcinomaOpen Targets
0.07Suggestive
Testicular regression syndromeOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
familial male-limited precocious pubertyOpen Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
Spermatogenic failure 1UniProt
Pathogenic Variants6
NM_014258.4(SYCP2):c.1593_1594del (p.Asn531fs)Likely pathogenic
Oligosynaptic infertility
β˜…β˜†β˜†β˜†2024β†’ Residue 531
NM_014258.4(SYCP2):c.513+1G>TLikely pathogenic
Oligosynaptic infertility
β˜…β˜†β˜†β˜†2024
NM_014258.4(SYCP2):c.600-1G>ALikely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation
β˜…β˜†β˜†β˜†2023
NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs)Pathogenic
Oligosynaptic infertility|Cryptozoospermia|Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 932
NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs)Pathogenic
Oligosynaptic infertility|Cryptozoospermia|Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 674
NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs)Pathogenic
Oligosynaptic infertility|Spermatocyte maturation arrest|Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 1023
View on ClinVar β†—
Related Genes
SYCE2Protein interaction100%SYCE1Protein interaction100%TEX12Protein interaction94%SYCE3Protein interaction92%SMC3Protein interaction90%REC8Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
27%
Brain
23%
Heart
19%
Ovary
13%
Liver
8%
Gene Interaction Network
Click a node to explore
SYCP2SYCE2SYCE1TEX12SYCE3SMC3REC8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BX26
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.25 [0.18–0.36]
RankingsWhere SYCP2 stands among ~20K protein-coding genes
  • #15,408of 20,598
    Most Researched16
  • #3,449of 5,498
    Most Pathogenic Variants6
  • #1,666of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedSYCP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
HSF5 Deficiency Causes Male Infertility Involving Spermatogenic Arrest at Meiotic Prophase I in Humans and Mice.
PMID: 38958533
Adv Sci (Weinh) Β· 2024
1.00
2
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
PMID: 31866047
Am J Hum Genet Β· 2020
0.90
3
Novel Loss-of-Function
PMID: 39202451
Genes (Basel) Β· 2024
0.80
4
Gene Expression and DNA Methylation in Human Papillomavirus Positive and Negative Head and Neck Squamous Cell Carcinomas.
PMID: 36142875
Int J Mol Sci Β· 2022
0.70
5
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
PMID: 39545410
J Clin Invest Β· 2024
0.60