JHY

junctional cadherin complex regulator

Summary

Predicted to be involved in axoneme assembly and brain development. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; motile cilium assembly; and regulation of establishment of planar polarity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants19 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1160378311:122,752,954T/Cupstream gene variant—
rs794689411:122,761,603A/C——
rs795074811:122,762,432A/Tintron variant—
rs18400561711:122,767,420G/A——
rs313440611:122,768,128A/T——
rs14537588411:122,768,244C/Tintron variant—
rs1089292411:122,773,715A/Tregulatory region variant—
rs75683415711:122,774,727T/C—likely benign
rs117906538111:122,775,024C/T—uncertain significance
rs412828211:122,801,559A/T——
rs429312711:122,804,263G/Cintron variant—
rs14404830011:122,805,063A/Tintron variant—
rs1121889511:122,809,690T/Gintron variant—
rs76409658111:122,817,258T/C—likely benign
rs6190438911:122,825,963G/Tintron variant—
rs375104611:122,828,342A/T——
rs710334511:122,829,256G/Tupstream gene variant—
rs14558197211:122,829,964A/T—uncertain significance
rs76528957511:122,830,073T/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.