Disease-gene associations mined from literature

HNRNPL disease associations

HNRNPL [ENSP00000221419]

Heterogeneous nuclear ribonucleoprotein L; Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of exon inclusion. Exhibits a binding preference for CA-rich elements. Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts. Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter; RNA binding motif containing

Synonyms:  HNRNPL,  B4DVF8,  HNRNPL-001,  HNRNPL-002,  HNRNPL-005 ...

Linkouts:  STRING  Pharos  UniProt  OMIM