GEMIN4 (gem nuclear organelle associated protein 4)

2007-02-01  

Identity

HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
HC56,HCAP1,HHRF-1,NEDMCR,p97

Other Information

Locus ID:

NCBI: 50628
MIM: 606969
HGNC: 15717
Ensembl: ENSG00000179409

Variants:

dbSNP: 50628
ClinVar: 50628
TCGA: ENSG00000179409
COSMIC: GEMIN4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179409ENST00000319004P57678
ENSG00000179409ENST00000437269E7EN12
ENSG00000179409ENST00000570364I3L4A4
ENSG00000179409ENST00000573482I3L399
ENSG00000179409ENST00000574958I3L1J7
ENSG00000179409ENST00000576383I3L4M4
ENSG00000179409ENST00000576778I3L2C7

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Survival motor neuron (SMN) complexKEGGhsa_M00426
Survival motor neuron (SMN) complexKEGGM00426
Gene ExpressionREACTOMER-HSA-74160
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
384013262024GEMIN4 Variants: Risk Profiling, Bioinformatics, and Dynamic Simulations Uncover Susceptibility to Bladder Carcinoma.0
384013262024GEMIN4 Variants: Risk Profiling, Bioinformatics, and Dynamic Simulations Uncover Susceptibility to Bladder Carcinoma.0
358611852022Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.0
358611852022Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.0
350524322021A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.5
353848652021Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population.0
350524322021A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.5
353848652021Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population.0
276692752016Polymorphisms in GEMIN4 and AGO1 Genes Are Associated with the Risk of Lung Cancer: A Case-Control Study in Chinese Female Non-Smokers.14
276692752016Polymorphisms in GEMIN4 and AGO1 Genes Are Associated with the Risk of Lung Cancer: A Case-Control Study in Chinese Female Non-Smokers.14
255555242015GEMIN4 functions as a coregulator of the mineralocorticoid receptor.6
255555242015GEMIN4 functions as a coregulator of the mineralocorticoid receptor.6
225068922012Genetic variants in the microRNA machinery gene GEMIN4 are associated with risk of prostate cancer: a case-control study of the Chinese Han population.13
225068922012Genetic variants in the microRNA machinery gene GEMIN4 are associated with risk of prostate cancer: a case-control study of the Chinese Han population.13
205853412011Role of primary miRNA polymorphic variants in metastatic colon cancer patients treated with 5-fluorouracil and irinotecan.48

Citation

Dessen P

GEMIN4 (gem nuclear organelle associated protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43612/gemin4