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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:614140 Ensembl IDEnsembl:ENSG00000100014 HGNC IDHGNC:HGNC:29022 PHARMGKB IDPA164718673 Map Location22q11.23 |
GO terms in SPECC1L
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IBA | GO:0005815 | microtubule organizing center |
CC | IEA | GO:0005819 | spindle |
CC | IDA | GO:0005829 | cytosol |
CC | IEA | GO:0005921 | gap junction |
CC | IDA | GO:0015629 | actin cytoskeleton |
CC | IBA | GO:0031941 | filamentous actin |
Gene expression in normal tissue: SPECC1L
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPECC1L
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Database | Pathway ID | Pathway Des. |
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No matching records found |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in SPECC1L
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |