GEMIN8 (gem nuclear organelle associated protein 8)

2014-11-01  

Identity

HGNC
GEMIN8
LOCATION
Xp22.2
LOCUSID
54960
ALIAS
FAM51A1

Other Information

Locus ID:

NCBI: 54960
MIM: 300962
HGNC: 26044
Ensembl: ENSG00000046647

Variants:

dbSNP: 54960
ClinVar: 54960
TCGA: ENSG00000046647
COSMIC: GEMIN8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000046647ENST00000332885H7BYE2
ENSG00000046647ENST00000380523Q9NWZ8
ENSG00000046647ENST00000380523A0A024RBX2
ENSG00000046647ENST00000398355Q9NWZ8
ENSG00000046647ENST00000398355A0A024RBX2

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
164344022006Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly.37
170234152006Gemin8 is required for the architecture and function of the survival motor neuron complex.30

Citation

Dessen P

GEMIN8 (gem nuclear organelle associated protein 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63751/gemin8