Features include always present findings: Low muscle tone (hypotonia), Gingival overgrowth, Intellectual disability, and Bifid nasal tip and others; and common findings: Deep philtrum, Short stature, Generalized hypotonia, and Coarse facial features and others.

ATP6V1B2 encodes ATPase H+ transporting V1 subunit B2 (511 aa). Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. Highest expression in Brain Frontal Cortex BA9 (247.0 TPM) and Brain Cerebellar Hemisphere (204.3 TPM).

Zimmermann-Laband syndrome 2 is associated with mutations in the ATP6V1B2 gene on chromosome 8.

The ATP6V1B2 protein participates in MITF-M-dependent ATP6V1B2 gene expression pathway.

ATP6V1B2 is classified as a druggable target (Enzyme and Transporter categories) with score 5.8.

Genetic testing for ATP6V1B2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 17 common features.

No clinical trials have been registered for Zimmermann-Laband syndrome 2.

5 publications have been identified in PubMed for Zimmermann-Laband syndrome 2. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

• Bernert A (2026). [PMID: 41656275](https://pubmed.ncbi.nlm.nih.gov/41656275/). *Mol Brain*. [Basic Science / Preclinical]

• Wei G (2025). [PMID: 40068100](https://pubmed.ncbi.nlm.nih.gov/40068100/). *Adv Sci (Weinh)*. [Gene Therapy / Novel Therapeutics]

• Perez SM (2025). [PMID: 39982357](https://pubmed.ncbi.nlm.nih.gov/39982357/). *J Dev Biol*. [Review / Meta-Analysis]

• Carpentieri G (2024). [PMID: 39210597](https://pubmed.ncbi.nlm.nih.gov/39210597/). *HGG Adv*. [Case Report / Case Series]

• Gu Y (2024). [PMID: 39087232](https://pubmed.ncbi.nlm.nih.gov/39087232/). *J Clin Pediatr Dent*. [Case Report / Case Series]