GEMIN7 (gem nuclear organelle associated protein 7)

2014-08-01  

Identity

HGNC
GEMIN7
LOCATION
19q13.32
LOCUSID
79760
ALIAS
SIP3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79760
MIM: 607419
HGNC: 20045
Ensembl: ENSG00000142252

Variants:

dbSNP: 79760
ClinVar: 79760
TCGA: ENSG00000142252
COSMIC: GEMIN7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142252ENST00000270257Q9H840
ENSG00000142252ENST00000391951Q9H840
ENSG00000142252ENST00000591607Q9H840
ENSG00000142252ENST00000591747Q9H840

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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

References

Pubmed IDYearTitleCitations
170234152006Gemin8 is required for the architecture and function of the survival motor neuron complex.35
170234152006Gemin8 is required for the architecture and function of the survival motor neuron complex.35
161598902005Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization.42
161598902005Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization.42
120655862002Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.46
120655862002Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.46

Citation

Dessen P

GEMIN7 (gem nuclear organelle associated protein 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54329