Property Summary

NCBI Gene PubMed Count 20
Grant Count 18
R01 Count 4
Funding $3,691,729.24
PubMed Score 68.72
PubTator Score 70.12

Knowledge Summary

Patent

No data available

Expression

Gene RIF (14)

PMID Text
24973967 Autosomal dominant susceptibility for Paraganglioma is modified by imprinting and mutations in the SDHAF2 gene cause Paragangliomas only when the mutation is inherited from father.
24712571 New mutation found in SDHAF2 gene in pheochromocytoma/paraganglioma patients.
24414418 Data indicate that SDH5 is protected from mitochondrial LON (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2).
24322175 Loss of heterozygosity was found in more than 50 % of the von Hippel-Lindau-associated pheochromocytomas, and was correlated with a significant decrease (p < 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role.
23983127 Data indicate that succinate dehydrogenase 5 (SDH5) functions as a critical protein in regulating epithelial-mesenchymal transition (EMT) by modulating the glycogen synthase kinase (GSK)-3beta-beta-catenin signaling pathway.
23380393 Studies indicate that the flavinylation factor Sdh5 (SDHAF2) provided insight into the possible mechanism associated with Sdh1 (SDHA) flavinylation.
23291190 Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families.
23174333 Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
21224366 We established the SDHAF2 mutation status of PGL2 family members
20972721 Somatic mutations of the SDHAF2 tumor suppressor gene are unlikely to frequently contribute to parathyroid tumor development in sporadic primary hyperparathyroidism.
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AA Sequence

MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARL      1 - 70
LYESRKRGMLENCILLSLFAKEHLQHMTEKQLNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALL     71 - 140
RDFAKNKNKEQRLRAPDLEYLFEKPR                                                141 - 166
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Publication (21)

PMID Year Title
24973967 2015 A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.
24712571 2014 Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.
24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
24322175 2014 Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.
23983127 2013 Succinate dehydrogenase 5 (SDH5) regulates glycogen synthase kinase 3?-?-catenin-mediated lung cancer metastasis.
23380393 2013 Emerging concepts in the flavinylation of succinate dehydrogenase.
23291190 2013 Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
23174333 2013 The role of complex II in disease.
21224366 2011 SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.
20972721 2010 Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism.
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