LHX2

LIM homeobox 2

Summary

This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]

Known Variants23 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14076326919:126,774,688A/G—uncertain significance
rs18591084949:126,774,699C/G—uncertain significance
rs7572234049:126,774,739A/G—uncertain significance
rs78730299:126,776,123C/Tregulatory region variant—
rs7806907529:126,776,252A/G—uncertain significance
rs1442912009:126,776,410C/T—likely benign
rs25401486319:126,777,417C/A—uncertain significance
rs3708251619:126,777,428C/T—likely benign
rs3756876669:126,777,584C/A—uncertain significance
rs11780793289:126,777,655C/T—uncertain significance
rs18591676789:126,777,658C/G—uncertain significance
rs13789091509:126,777,660G/C—uncertain significance
rs1896016069:126,777,726G/A—benign
rs13287097129:126,777,781C/T—uncertain significance
rs5605273599:126,783,378C/T—uncertain significance
rs13034641399:126,783,392G/A—uncertain significance
rs617343629:126,783,415C/T—benign
rs1402297569:126,783,426C/A—likely benign
rs20750649:126,783,847C/Tintron variant—
rs9177839:126,790,607A/Cdownstream gene variant—
rs1380224319:126,794,782G/C—likely benign
rs25401636109:126,794,814C/T—uncertain significance
rs12477933969:126,794,962A/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.