SALL2 gene

spalt like transcription factor 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]

From UniProt:

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

From NCBI Gene:

  • Ocular coloboma, autosomal recessive

From UniProt:

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. [MIM:216820]

Cytogenetic Location: 14q11.1-q12, which is the long (q) arm of chromosome 14 between positions 11.1 and 12

Molecular Location: base pairs 21,521,080 to 21,537,216 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q11.1-q12, which is the long (q) arm of chromosome 14 between positions 11.1 and 12
  • COLB
  • HSAL2
  • p150(Sal2)
  • Sal-2
  • ZNF795