SPECC1L


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
sperm antigen with calponin homology and coiled-coil domains 1 likeMIM:614140Ensembl:ENSG00000100014HGNC:HGNC:29022PA16471867322q11.23

GO terms in SPECC1L


Term TypeEvidence TypeGO Term IDGO Des.
CCIBAGO:0005815microtubule organizing center
CCIEAGO:0005819spindle
CCIDAGO:0005829cytosol
CCIEAGO:0005921gap junction
CCIDAGO:0015629actin cytoskeleton
CCIBAGO:0031941filamentous actin
BPIEAGO:0007049cell cycle
BPIDAGO:0007155cell adhesion
BPIBAGO:0030036actin cytoskeleton organization
BPIEAGO:0051301cell division

Gene expression in normal tissue: SPECC1L

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SPECC1L


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SPECC1L

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