SALL2

Developmental stage

In fetal brain exclusively in pontine nuclei. Expressed at 5 weeks of development, the stage at which optic fissure closure starts. Expression is maintained in the developing retina up to 8 weeks; after completion of fissure closure, it is restricted to the inner neuroblastic layer. Expressed in the cornea, lens, and retina at different developmental stages.

Function

Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure.

Involvement in disease

Coloboma, ocular, autosomal recessive

COAR

An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the sal C2H2-type zinc-finger protein family.

Tissue Specificity

Highest levels in adult brain (in different areas). Lower levels in heart; very low levels in kidney and pancreas. Expressed throughout the retina and lens vesicle as well as the periocular mesenchyme.

Cellular localization

• Nucleus

Alternative names

KIAA0360, SAL2, ZNF795, SALL2, Sal-like protein 2, Zinc finger protein 795, Zinc finger protein SALL2, Zinc finger protein Spalt-2, Sal-2, hSal2

Database links

swissprot:Q9Y467 entrezGene:6297 swissprot:Q8N656 omim:602219