RUFY2

Description

The RUFY2 (RUN and FYVE domain containing 2) is a protein-coding gene located on chromosome 10.

RUFY2 (RUN and FYVE domain containing 2) is a human protein encoded by the RUFY2 gene. The gene's name derives from its two key domains: RUN and FYVE. RUFY2 is part of the RUFY protein family, which includes RUFY1, RUFY3, and RUFY4. RUFY2 plays a dynamic role in endosomal membrane trafficking.

The RUFY2 gene is located on the long arm (q) of chromosome 10, specifically at region 21 band 3, spanning base pairs 70,100,864 to 70,167,051 on the reverse strand (based on Build GRCh37/hg19). The gene produces a 2,080 base pair mRNA, and it contains 18 predicted exons with 13 alternative transcripts.

The gene is positioned near other protein-coding genes: PBLD (phenazine biosynthesis-like protein domain containing) is located 8,180 base pairs upstream, and DNA2 (a conserved helicase/nuclease involved in maintaining mitochondrial and nuclear DNA stability) is situated 6,770 base pairs downstream.

The RUFY2 protein is composed of 655 amino acid residues. It features an N-terminal RUN domain, a C-terminal FYVE domain, and two coiled coil domains in between.

RUFY2 is also known as RABIP4R, ZFYVE13.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing