GEMIN2 (gem nuclear organelle associated protein 2)

2011-08-01  

Identity

HGNC
GEMIN2
LOCATION
14q21.1
LOCUSID
8487
ALIAS
SIP1,SIP1-delta
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8487
MIM: 602595
HGNC: 10884
Ensembl: ENSG00000092208

Variants:

dbSNP: 8487
ClinVar: 8487
TCGA: ENSG00000092208
COSMIC: GEMIN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092208ENST00000250379O14893
ENSG00000092208ENST00000308317O14893
ENSG00000092208ENST00000396249O14893
ENSG00000092208ENST00000412033O14893
ENSG00000092208ENST00000524781S4R421
ENSG00000092208ENST00000525153G5EA29
ENSG00000092208ENST00000527381H0YDP6
ENSG00000092208ENST00000531684H0YCF4
ENSG00000092208ENST00000534684H0YEL0
ENSG00000092208ENST00000650481A0A3B3IU42

Expression (GTEx)

0
5
10
15
20
25
30
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
387158012024Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.0
387158012024Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.0
317996252020Negative cooperativity between Gemin2 and RNA provides insights into RNA selection and the SMN complex's release in snRNP assembly.4
317996252020Negative cooperativity between Gemin2 and RNA provides insights into RNA selection and the SMN complex's release in snRNP assembly.4
279746202017Will the circle be unbroken: specific mutations in the yeast Sm protein ring expose a requirement for assembly factor Brr1, a homolog of Gemin2.5
279746202017Will the circle be unbroken: specific mutations in the yeast Sm protein ring expose a requirement for assembly factor Brr1, a homolog of Gemin2.5
268289622016A U1 snRNP-specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange.47
268289622016A U1 snRNP-specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange.47
260927302015Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes.21
260927302015Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes.21
239390452013The gemin2-binding site on SMN protein: accessibility to antibody.1
239390452013The gemin2-binding site on SMN protein: accessibility to antibody.1
219130132012Overexpression of SIP1 and downregulation of E-cadherin predict delayed neck metastasis in stage I/II oral tongue squamous cell carcinoma after partial glossectomy.31
226071712012Solution structure of the core SMN-Gemin2 complex.13
219130132012Overexpression of SIP1 and downregulation of E-cadherin predict delayed neck metastasis in stage I/II oral tongue squamous cell carcinoma after partial glossectomy.31

Citation

Dessen P

GEMIN2 (gem nuclear organelle associated protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52343/gemin2-(gem-nuclear-organelle-associated-protein-2)