Mitochondria Phenome Knowledgebase

Subcellular Location Mitochondria finds 174 Genes

Gene Ensembl Entrez Aliases Map Position SwissProt ID SwissProt Description Subcellular Locations Subcell PMIDs Protein Complex OMIM Gene OMIM Disease
UCP3 ENSG00000175564 7352 SLC25A9 11q13 P55916 Mitochondrial uncoupling protein 3 Mitochondria Mitochondrial-inner-membrane 10631320 Uncoupling protein complex (UCP) 602044 Noninsulin dependent diabetes mellitus (NIDDM) [125853]; Obesity [601665]
UNG ENSG00000076248 7374 DGU; DKFZp781L1143; HIGM4; UDG; UNG1; UNG15 12q23-q24.1 P13051 Uracil-DNA glycosylase (UDG) Mitochondria Nucleus 12958596 191525 Immunodeficiency with hyper IgM type 5 (HIGM5) [608106]
UQCRB ENSG00000156467 7381 QP-C; QPC; UQBC; UQBP; UQPC 8q22 P14927 Ubiquinol-cytochrome c reductase complex 14 kDa protein Mitochondria Mitochondrial-inner-membrane 12709789 Respiratory chain complex III (RCCIII) 191330 Deficiency of respiratory chain complex III (RCC3) [124000]
UROS ENSG00000188690 7390 - 10q25.2-q26.3 P10746 Uroporphyrinogen-III synthase Cytoplasm Mitochondria-related 3792391 7597845 606938 Congenital erythropoietic porphyria (CEP) [263700]
WFS1 ENSG00000109501 7466 DFNA14; DFNA38; DFNA6; DIDMOAD; WFRS; WFS; WOLFRAMIN 4p16 O76024 Wolframin Endoplasmatic-reticulum Mitochondria-related 9771706 9817917 16195229 606201 Wolfram syndrome (DIDMOAD) [222300]; Autosomal dominant nonsyndromic sensorineural deafness (DFNA6) [600965]
WWOX ENSG00000186153 51741 D16S432E; FOR; FRA16D; HHCMA56; PRO0128; WOX1; WWOX v8 16q23.3-q24.1 Q9NZC7 Oxidoreductase Cytoplasm Mitochondria Nucleus 10786676 11744990 14695174 15664696 605131 Esophageal squamous cell carcinoma (ESCC) [133239]; Pancreatic carcinoma [260350]

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