ROGDI (rogdi atypical leucine zipper)

2016-10-01  

Identity

HGNC
ROGDI
LOCATION
16p13.3
LOCUSID
79641
ALIAS
KTZS

Other Information

Locus ID:

NCBI: 79641
MIM: 614574
HGNC: 29478
Ensembl: ENSG00000067836

Variants:

dbSNP: 79641
ClinVar: 79641
TCGA: ENSG00000067836
COSMIC: ROGDI

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067836ENST00000322048Q9GZN7
ENSG00000067836ENST00000586153K7EID1
ENSG00000067836ENST00000586504K7EJ96
ENSG00000067836ENST00000587377K7ERP1
ENSG00000067836ENST00000587711K7EPN1
ENSG00000067836ENST00000587843K7EL91
ENSG00000067836ENST00000588201K7EMJ5
ENSG00000067836ENST00000591392K7EPS3
ENSG00000067836ENST00000592019K7ERN3

Expression (GTEx)

0
50
100
150
200
250
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
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
224246002012Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.22
224828072012A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.11
230867782013Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.6
286381512017The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.1

Citation

Dessen P

ROGDI (rogdi atypical leucine zipper)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56518/rogdi