SPECC1L, Official Symbol SPECC1Lprovided by HGNC Official Full Name sperm antigen with calponin homology and coiled-coil domains 1 likeprovided by HGNC Primary source HGNC:HGNC:29022 See related Ensembl:ENSG00000100014 MIM:614140; AllianceGenome:HGNC:29022 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TBHS; CYTSA; GBBB2; TBHS1; OBLFC1 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] Expression Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 13.1) and 25 other tissues See more Orthologs mouse all