PROX2

prospero homeobox 2

Summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants40 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6197892814:75,321,714T/Cintron variant—
rs20087475114:75,321,843G/T—uncertain significance
rs53983828614:75,321,861A/G—uncertain significance
rs77493122314:75,321,867C/G—uncertain significance
rs250303011014:75,321,905A/G—uncertain significance
rs78162860014:75,321,980G/A—uncertain significance
rs77389223914:75,321,996A/C—uncertain significance
rs801420414:75,322,794G/Adownstream gene variant—
rs101347475614:75,323,638A/G—uncertain significance
rs75802478014:75,323,677G/T—uncertain significance
rs36840828214:75,323,692G/A—uncertain significance
rs1710284714:75,324,780A/T——
rs72259914:75,327,443T/A——
rs7845143114:75,329,318T/C—benign
rs76047885514:75,329,851C/G—uncertain significance
rs20157821514:75,329,856T/C—uncertain significance
rs209181197614:75,329,888G/C—uncertain significance
rs19273074014:75,329,891G/A—uncertain significance
rs209181289814:75,329,943C/T—uncertain significance
rs20196397714:75,329,987C/T—uncertain significance
rs55102100014:75,330,035G/A—uncertain significance
rs100077715014:75,330,066C/T—uncertain significance
rs132644192514:75,330,140C/T—uncertain significance
rs37254013714:75,330,147G/A—uncertain significance
rs75106403314:75,330,149G/C—uncertain significance
rs11599000514:75,330,158T/C—benign
rs250305400014:75,330,189G/T—uncertain significance
rs6174728714:75,330,205C/T—benign
rs75132589314:75,330,213G/A—uncertain significance
rs11785315914:75,330,306A/G—likely benign
rs37072810514:75,330,326A/G—uncertain significance
rs20059598214:75,330,383T/G—uncertain significance
rs76023096314:75,330,398C/T—uncertain significance
rs20197822514:75,330,462C/T—uncertain significance
rs37660865114:75,330,498T/A—uncertain significance
rs455356014:75,334,199T/Cupstream gene variant—
rs1115910614:75,341,139G/Adownstream gene variant—
rs6197893214:75,342,954C/Tregulatory region variant—
rs490326414:75,343,829A/T——
rs490326514:75,343,877C/G——

Gene information from NCBI Gene. Variant classifications from ClinVar.