SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin)

2003-02-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
CAR,CMAR,PGN,SPG5C
FUSION GENES

Other Information

Locus ID:

NCBI: 6687
MIM: 602783
HGNC: 11237
Ensembl: ENSG00000197912

Variants:

dbSNP: 6687
ClinVar: 6687
TCGA: ENSG00000197912
COSMIC: SPG7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197912ENST00000268704A0A2U3TZH1
ENSG00000197912ENST00000341316Q9UQ90
ENSG00000197912ENST00000561911H3BTY6
ENSG00000197912ENST00000564409A0A2R8YFN9
ENSG00000197912ENST00000565891A0A2R8YDW8
ENSG00000197912ENST00000566221H3BTR8
ENSG00000197912ENST00000566371H3BMP1
ENSG00000197912ENST00000566682J3KRF6
ENSG00000197912ENST00000567138A0A087X0F5
ENSG00000197912ENST00000569820H3BNE4
ENSG00000197912ENST00000642334A0A2R8YFF4
ENSG00000197912ENST00000642371A0A2R8YFQ9
ENSG00000197912ENST00000643105A0A2R8Y6E8
ENSG00000197912ENST00000643307A0A2R8Y729
ENSG00000197912ENST00000643345A0A2R8YCU3
ENSG00000197912ENST00000643370A0A2R8Y617
ENSG00000197912ENST00000643649A0A2R8YDQ1
ENSG00000197912ENST00000643668A0A2R8YDU1
ENSG00000197912ENST00000643724A0A2R8YGV4
ENSG00000197912ENST00000643954A0A2R8Y4M0
ENSG00000197912ENST00000643957A0A2R8Y530
ENSG00000197912ENST00000644044A0A2R8YDS3
ENSG00000197912ENST00000644210A0A2R8YFJ7
ENSG00000197912ENST00000644498A0A2R8Y7N2
ENSG00000197912ENST00000644671A0A2R8Y7B8
ENSG00000197912ENST00000644751A0A2R8Y4M8
ENSG00000197912ENST00000644781A0A2R8YFW4
ENSG00000197912ENST00000644901A0A2R8Y4L0
ENSG00000197912ENST00000645042A0A2R8YFJ7
ENSG00000197912ENST00000645063A0A2R8Y3M4
ENSG00000197912ENST00000645258A0A2R8Y856
ENSG00000197912ENST00000645354A0A2R8Y4L7
ENSG00000197912ENST00000645533A0A2R8Y6Z7
ENSG00000197912ENST00000645818Q9UQ90
ENSG00000197912ENST00000645886A0A2R8Y4Z7
ENSG00000197912ENST00000645897A0A2R8Y6K2
ENSG00000197912ENST00000646263Q9UQ90
ENSG00000197912ENST00000646303A0A2R8Y4Y7
ENSG00000197912ENST00000646399A0A2R8YG79
ENSG00000197912ENST00000646445A0A2R8YGZ0
ENSG00000197912ENST00000646531A0A2R8YFJ7
ENSG00000197912ENST00000646589A0A2R8YDM8
ENSG00000197912ENST00000646716A0A2R8YEH4
ENSG00000197912ENST00000646826A0A2R8YFJ7
ENSG00000197912ENST00000646930A0A2R8Y632
ENSG00000197912ENST00000647032A0A2R8Y7E2
ENSG00000197912ENST00000647079A0A2R8Y726
ENSG00000197912ENST00000647227A0A2R8YG90

Expression (GTEx)

0
10
20
30
40
50
60
70

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA130620651anthracyclines and related substancesChemicalClinicalAnnotationassociatedPD21900104, 23441093
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD21900104, 23441093
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD20038957
PA449383docetaxelChemicalClinicalAnnotationassociatedPD20038957
PA451644thalidomideChemicalClinicalAnnotationassociatedPD20038957

References

Pubmed IDYearTitleCitations
263877352015SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.57
197483542009An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases.48
230657892012Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.45
247275712014Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.35
229641622012Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.31
256814472015SPG7 mutations are a common cause of undiagnosed ataxia.25
225716922013SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.24
165341022006Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.22
182005862008A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.21
187997862008Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.21

Citation

Dessen P

SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42373/spg7