TUBGCP2 (tubulin gamma complex associated protein 2)

2014-11-01   Dessen P  

Identity

HGNC
TUBGCP2
LOCATION
10q26.3
LOCUSID
10844
ALIAS
ALP4,GCP-2,GCP2,Grip103,PAMDDFS,SPBC97,SPC97,Spc97p,h103p,hGCP2,hSpc97
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10844
MIM: 617817
HGNC: 18599
Ensembl: ENSG00000130640

Variants:

dbSNP: 10844
ClinVar: 10844
TCGA: ENSG00000130640
COSMIC: TUBGCP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130640ENST00000252936Q9BSJ2
ENSG00000130640ENST00000368562B3KTU7
ENSG00000130640ENST00000368563Q9BSJ2
ENSG00000130640ENST00000417178Q9BSJ2
ENSG00000130640ENST00000482278F2Z2B9
ENSG00000130640ENST00000487796R4GMM4
ENSG00000130640ENST00000543663Q9BSJ2

Expression (GTEx)

0
10
20
30
40
50
60
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
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Recruitment of NuMA to mitotic centrosomesREACTOMER-HSA-380320

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
316307902019Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.12
316307902019Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.12
238869392013Functional replacement of fission yeast γ-tubulin small complex proteins Alp4 and Alp6 by human GCP2 and GCP3.5
238869392013Functional replacement of fission yeast γ-tubulin small complex proteins Alp4 and Alp6 by human GCP2 and GCP3.5
192994672009Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus.13
192994672009Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus.13

Citation

Dessen P

TUBGCP2 (tubulin gamma complex associated protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75372/tubgcp2-(tubulin-gamma-complex-associated-protein-2)