TANGO2 (transport and golgi organization 2 homolog)

2014-11-01  

Identity

HGNC
TANGO2
LOCATION
22q11.21
LOCUSID
128989
ALIAS
C22orf25,MECRCN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 128989
MIM: 616830
HGNC: 25439
Ensembl: ENSG00000183597

Variants:

dbSNP: 128989
ClinVar: 128989
TCGA: ENSG00000183597
COSMIC: TANGO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183597ENST00000327374Q6ICL3
ENSG00000183597ENST00000398042Q6ICL3
ENSG00000183597ENST00000399807A8MWT1
ENSG00000183597ENST00000401833Q6ICL3
ENSG00000183597ENST00000401886Q6ICL3
ENSG00000183597ENST00000420290B7Z4A5
ENSG00000183597ENST00000430807B7Z6W2
ENSG00000183597ENST00000432198C9JKN2
ENSG00000183597ENST00000432883Q6ICL3
ENSG00000183597ENST00000434168C9J695
ENSG00000183597ENST00000434570Q6ICL3
ENSG00000183597ENST00000444651B7Z6W2
ENSG00000183597ENST00000447208A0A0A0MSI5
ENSG00000183597ENST00000450019F8WDT9
ENSG00000183597ENST00000450664C9JDT9
ENSG00000183597ENST00000456048Q6ICL3

Expression (GTEx)

0
5
10
15
20
25
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

Protein levels (Protein atlas)

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

References

Pubmed IDYearTitleCitations
377211162024Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.1
387185692024Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease.1
377211162024Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.1
387185692024Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease.1
346683272022Variable clinical severity in TANGO2 deficiency: Case series and literature review.13
351975172022Mitochondrial dysfunction associated with TANGO2 deficiency.13
346683272022Variable clinical severity in TANGO2 deficiency: Case series and literature review.13
351975172022Mitochondrial dysfunction associated with TANGO2 deficiency.13
329092822021The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.15
329297472021Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.17
333426852021Clinical phenotype associated with TANGO2 gene mutation.8
329092822021The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.15
329297472021Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.17
333426852021Clinical phenotype associated with TANGO2 gene mutation.8
313395822020Clinical presentation and proteomic signature of patients with TANGO2 mutations.28

Citation

Dessen P

TANGO2 (transport and golgi organization 2 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74477