DCTN6, dynactin subunit 6, 10671

N. diseases: 315; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis. 27181203 2017
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE Substituting threonine 187 with alanine in p27Kip1 prevents pituitary tumorigenesis by two-hit loss of Rb1 and enhances humoral immunity in old age. 25583987 2015
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis. 27181203 2017
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis. 27181203 2017
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778 2014
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0598766
Disease:
Leukemogenesis
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778 2014
dbSNP: rs760330563
rs760330563
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0001206
Disease:
Acromegaly
0.010 GeneticVariation BEFREE The I119T substitution occurred in a female patient with acromegaly. p27(I119T) shows an abnormal migration pattern by SDS-PAGE. 22291433 2012
dbSNP: rs78669402
rs78669402
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C2676191
Disease:
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
0.010 GeneticVariation BEFREE In vitro, the K96Q change decreased p27 affinity for Grb2 but did not segregate with pituitary adenoma in the FIPA kindred. 22291433 2012
dbSNP: rs10096097
rs10096097
Entrez Id: 10671;23484
Gene Symbol: DCTN6;LEPROTL1
DCTN6;LEPROTL1
CUI: C0003125
Disease:
Anorexia Nervosa
0.010 GeneticVariation BEFREE Based on a recessive mode of inheritance we observed some evidence for association of the G/G genotype at SNP rs10096097 with AN (nominal two-sided p = 0.031). 21035823 2011
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0175754
Disease:
Agenesis of corpus callosum
0.010 GeneticVariation BEFREE In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line. 17431674 2007
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0282160
Disease:
Aplasia Cutis Congenita
0.010 GeneticVariation BEFREE In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line. 17431674 2007
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Transduction of p27(T187A) in breast cancer cells with a doxycycline-regulated adenovirus led to greater inhibition of proliferation, more extensive apoptosis, with a markedly reduced protein levels of cyclin E and increased accumulation of cyclin D1, compared with wild-type p27. 15996662 2005
dbSNP: rs568887534
rs568887534
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Transduction of p27(T187A) in breast cancer cells with a doxycycline-regulated adenovirus led to greater inhibition of proliferation, more extensive apoptosis, with a markedly reduced protein levels of cyclin E and increased accumulation of cyclin D1, compared with wild-type p27. 15996662 2005