SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like
Gene ID: 23384, updated on 19-Sep-2024Gene type: protein coding
Also known as: TBHS; CYTSA; GBBB2; TBHS1; OBLFC1
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- Go to complete Gene record for SPECC1L
- Go to Variation Viewer for SPECC1L variants
Summary
This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
Associated conditions
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| Description | Tests |
|---|---|
| Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
| Oculomaxillofacial dysostosis | not available |
| Teebi hypertelorism syndrome 1 | not available |
Genomic context
- Location:
- 22q11.23
- Sequence:
- Chromosome: 22; NC_000022.11 (24270831..24417738)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPECC1L 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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