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disrupted in renal carcinoma protein 2 (DIRC2)

Structure: - belongs to the major facilitator superfamily Compartment: membrane Alternative splicing: named isoforms=2 Expression: - ubiquitous - expressed in proximal tubular cells of the kidney Pathology: - chromosomal translocation t(2;3)(q35;q21) involving DIRC2 is found in familial renal cell carcinoma 1 (RCC1)

General

glycoprotein major facilitator superfamily (MFS) transmembrane 12 protein

Properties

SIZE: MW = 52 kD entity length = 478 aa COMPARTMENT: cellular membrane MOTIF: transmembrane domain {52-72} transmembrane domain {90-110} transmembrane domain {118-138} transmembrane domain {156-176} transmembrane domain {185-205} N-glycosylation site {N209} transmembrane domain {230-250} transmembrane domain {282-302} transmembrane domain {315-335} transmembrane domain {348-368} transmembrane domain {385-405} transmembrane domain {415-435} transmembrane domain {443-463}

Database Correlations

OMIM correlations UniProt Q96SL1

References

  1. UniProt :accession Q96SL1
  2. Atlas of Genetics and Cytogenetics in Oncology and Haematology http://atlasgeneticsoncology.org/Genes/DIRC2ID497.html