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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPATA13
spermatogenesis associated 13
Chromosome 13 · 13q12.12
NCBI Gene: 221178Ensembl: ENSG00000182957.16HGNC: HGNC:23222UniProt: A0A024RDM6
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityprotein bindingcell migrationlamellipodium assemblyhypothyroidismthyroid diseasemyxedemaHashimoto's thyroiditis
✦AI Summary

SPATA13 (spermatogenesis associated 13) is a guanine nucleotide exchange factor (GEF) that regulates small GTPase signaling with diverse biological roles. As a GEF, SPATA13 activates RAC1 and CDC42 while inhibiting RHOA, thereby controlling cell migration, adhesion dynamics, and cytoskeletal reorganization through PI3K and AKT1-dependent pathways 1. The protein localizes to the nucleus and associates with kinetochore complexes during mitosis, suggesting roles in cell cycle regulation 1. SPATA13 contributes to multiple disease processes. Mutations in SPATA13 cause primary angle-closure glaucoma (PACG), with increased GEF activity dysregulating mitosis in ocular tissues 1. In bone regeneration, circular SPATA13 RNA promotes osteogenic differentiation of periodontal ligament stem cells via a miR-485-5p/BMP7 regulatory axis 2. SPATA13-AS1 variants associate with bronchodilator response in pediatric asthma, particularly in African American populations 34, and SPATA13 emerges as a susceptibility gene for autoimmune thyroid disease 5. In breast cancer, SPATA13 variants show gene-environment interactions with age at menarche for estrogen receptor-positive disease risk 6. In the central nervous system, SPATA13 modulates social behavior and nocturnal activity, with knockout mice showing subordinate social hierarchy and altered voluntary activity 7. Placental SPATA13 expression mediates genetic associations with metabolic traits including waist-hip ratio 8.

Sources cited
1
SPATA13 is a GEF for Rho GTPases; mutations cause primary angle-closure glaucoma with increased GEF activity; protein localizes to nucleus and kinetochore complexes
PMID: 32339198
2
Circular SPATA13 RNA promotes osteogenic differentiation of periodontal ligament stem cells through miR-485-5p/BMP7 regulatory axis
PMID: 39667547
3
SPATA13 SNPs (rs912142, rs7081864, rs7903366) associate with pediatric bronchodilator response during acute asthma exacerbations in African Americans
PMID: 33851947
4
SPATA13-AS1 associates with short-acting beta-agonist response in multiple African American and European American populations
PMID: 24418963
5
SPATA13 identified as a susceptibility gene for autoimmune thyroid disease through transcriptome-wide association analysis
PMID: 37197658
6
SPATA13 variants show gene-environment interaction with age at menarche for estrogen receptor-positive breast cancer risk
PMID: 37559094
7
SPATA13 modulates social behavior and nocturnal activity; knockout mice show altered social hierarchy and activity patterns
PMID: 31020388
8
Placental SPATA13 expression mediates genetic associations with metabolic traits including waist-hip ratio
PMID: 35121757
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.49Moderate
thyroid diseaseOpen Targets
0.46Moderate
myxedemaOpen Targets
0.44Moderate
Hashimoto's thyroiditisOpen Targets
0.39Weak
autoimmune thyroid diseaseOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.34Weak
autoimmune diseaseOpen Targets
0.31Weak
facial nerve diseaseOpen Targets
0.30Weak
wet macular degenerationOpen Targets
0.28Weak
bone remodeling diseaseOpen Targets
0.27Weak
retinal degenerationOpen Targets
0.23Weak
food allergyOpen Targets
0.23Weak
asthmaOpen Targets
0.22Weak
ovarian dysfunctionOpen Targets
0.21Weak
respiratory system diseaseOpen Targets
0.16Weak
body weight gainOpen Targets
0.10Suggestive
primary angle closure glaucomaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
adenomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APCProtein interaction98%APC2Protein interaction98%CDC42Protein interaction94%RAC3Protein interaction94%RAC1Protein interaction82%PPP1R9BProtein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
56%
Lung
40%
Ovary
31%
Brain
29%
Heart
18%
Gene Interaction Network
Click a node to explore
SPATA13APCAPC2CDC42RAC3RAC1PPP1R9B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96N96
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.37–0.60]
RankingsWhere SPATA13 stands among ~20K protein-coding genes
  • #11,073of 20,598
    Most Researched35
  • #4,131of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedSPATA13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Circ-SPATA13 regulates the osteogenic differentiation of human periodontal ligament stem cells through the miR-485-5p_R + 1/BMP7 axis.
PMID: 39667547
Cell Signal · 2025
1.00
2
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
PMID: 32339198
PLoS Genet · 2020
0.90
3
The guanine nucleotide exchange factor, Spata13, influences social behaviour and nocturnal activity.
PMID: 31020388
Mamm Genome · 2019
0.80
4
Single Nucleotide Polymorphisms (SNPs) in PRKG1 & SPATA13-AS1 are associated with bronchodilator response: a pilot study during acute asthma exacerbations in African American children.
PMID: 33851947
Pharmacogenet Genomics · 2021
0.70
5
Identification of multiple novel susceptibility genes associated with autoimmune thyroid disease.
PMID: 37197658
Front Immunol · 2023
0.60