SALL2 spalt like transcription factor 2
Gene ID: 6297, updated on 3-Apr-2024Gene type: protein coding
Also known as: COLB; HSAL2; Sal-2; ZNF795; p150(Sal2)
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- Go to complete Gene record for SALL2
- Go to Variation Viewer for SALL2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Coloboma, ocular, autosomal recessive | See labs |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (21521080..21537121, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SALL2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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