TUBGCP4

tubulin gamma complex component 4

Summary

This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

Known Variants400 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18546829715:43,663,159G/C—likely benign
rs53771359815:43,663,210A/G—likely benign
rs254296094315:43,663,561C/T—likely benign
rs214274743915:43,663,563A/C—uncertain significance
rs77157095915:43,663,569T/C—uncertain significance
rs37235921515:43,663,579G/C—likely benign
rs75987625815:43,663,580A/G—uncertain significance
rs120694566315:43,663,582C/T—likely benign
rs132911628515:43,663,583G/A—uncertain significance
rs204411795315:43,663,592G/A—uncertain significance
rs125526349215:43,663,593G/C—uncertain significance
rs133741460215:43,663,603C/T—likely benign
rs254296136715:43,663,608G/A—pathogenic
rs76098526615:43,663,624C/T—likely benign
rs254296161515:43,663,643G/T—likely benign
rs14268866815:43,668,230G/A—likely benign
rs146172232015:43,668,276C/T—likely benign
rs254297767015:43,668,288T/C—likely benign
rs75954092515:43,668,296G/A—uncertain significance
rs159547663215:43,668,297T/C—uncertain significance
rs20109951215:43,668,300C/T—uncertain significance
rs75582553015:43,668,301G/T—likely benign
rs75337571615:43,668,303A/G—uncertain significance
rs77851486015:43,668,311C/T—uncertain significance
rs214276535115:43,668,319C/G—likely benign
rs204420059815:43,668,321A/G—uncertain significance
rs75895557215:43,668,326A/T—uncertain significance
rs204420089215:43,668,328T/C—likely benign
rs204420126515:43,668,348G/A—uncertain significance
rs254297812715:43,668,349A/T—likely benign
rs20191139115:43,668,355C/T—likely benign
rs36888138915:43,668,356C/T—uncertain significance
rs137557508815:43,668,357G/A—uncertain significance
rs77335792815:43,668,361C/G—likely benign
rs136444123715:43,668,362G/C—uncertain significance
rs76755878715:43,668,370C/T—likely benign
rs77513303715:43,668,374A/G—uncertain significance
rs54212219015:43,668,377C/T—uncertain significance
rs37344321915:43,668,378G/A—uncertain significance
rs214276576415:43,668,379C/T—likely benign
rs20218497915:43,668,384C/T—uncertain significance
rs74994850015:43,668,387A/G—uncertain significance
rs148669248915:43,668,388G/C—uncertain significance
rs75189501715:43,668,394T/C—likely benign
rs75529762915:43,668,399A/T—uncertain significance
rs36965002815:43,668,404A/G—uncertain significance
rs93782944815:43,668,405C/T—uncertain significance
rs105365971215:43,668,406G/A—likely benign
rs37307982215:43,668,411A/G—uncertain significance
rs254297864415:43,668,412T/C—likely benign
rs254297873015:43,668,425G/A—likely pathogenic
rs254297879815:43,668,437C/T—likely benign
rs144336509615:43,668,439C/T—likely benign
rs130453429015:43,668,441G/C—likely benign
rs11459291015:43,668,528C/T—likely benign
rs74929513815:43,668,689G/A—likely benign
rs138584819215:43,668,701G/A—uncertain significance
rs74688181515:43,668,715T/G—likely benign
rs214276710315:43,668,716C/T—pathogenic
rs76871522615:43,668,731G/A—uncertain significance
rs37020263715:43,668,750T/G—uncertain significance
rs20095126415:43,668,752C/A—likely benign
rs76930334115:43,668,753G/A—uncertain significance
rs127753093315:43,668,760C/T—likely benign
rs76253938915:43,668,765C/T—uncertain significance
rs94530421515:43,668,797C/T—pathogenic
rs76003237915:43,668,799A/G—likely benign
rs75303849215:43,668,802A/C—likely benign
rs75654098415:43,668,805G/C—likely benign
rs139103961815:43,668,828G/T—uncertain significance
rs204420982915:43,668,829A/G—uncertain significance
rs36849480915:43,668,832G/A—likely benign
rs100760479115:43,668,837G/A—likely benign
rs52889310415:43,668,841T/C—likely benign
rs20152636915:43,669,196A/T—likely benign
rs37213529615:43,669,199T/C—likely benign
rs132226478215:43,669,207T/G—uncertain significance
rs75050580115:43,669,224C/A—uncertain significance
rs55552532515:43,669,228A/G—uncertain significance
rs20005342815:43,669,236A/G—uncertain significance
rs103331488415:43,669,238A/G—uncertain significance
rs78125208315:43,669,243A/G—uncertain significance
rs18882222615:43,669,249A/G—likely benign
rs204421690815:43,669,253C/T—likely benign
rs77487552615:43,669,266G/T—likely pathogenic
rs254298331615:43,669,271C/T—uncertain significance
rs8013955615:43,669,864C/T—benign
rs77762015515:43,670,025A/G—likely benign
rs36929890415:43,670,029A/G—likely benign
rs214277378915:43,670,031T/G—likely benign
rs254298761315:43,670,035T/C—likely benign
rs77869980215:43,670,036A/T—likely benign
rs93020060615:43,670,056T/C—likely benign
rs204423284515:43,670,066G/A—uncertain significance
rs77960817115:43,670,072G/C—uncertain significance
rs37128502115:43,670,078G/A—uncertain significance
rs214277426215:43,670,113C/T—likely benign
rs76326777615:43,670,121C/T—likely benign
rs321399015:43,670,226C/A—benign
rs321399115:43,670,280C/T—benign

Showing 100 of 400 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.