ZDBF2 (zinc finger DBF-type containing 2)

2014-11-01  

Identity

HGNC
ZDBF2
LOCATION
2q33.3
LOCUSID
57683
ALIAS
Slx9
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57683
MIM: 617059
HGNC: 29313
Ensembl: ENSG00000204186

Variants:

dbSNP: 57683
ClinVar: 57683
TCGA: ENSG00000204186
COSMIC: ZDBF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204186ENST00000374423Q9HCK1
ENSG00000204186ENST00000374423N0DVB2
ENSG00000204186ENST00000611847N0DVX5
ENSG00000204186ENST00000648361A0A3B3ITR2
ENSG00000204186ENST00000649285A0A3B3ITX6
ENSG00000204186ENST00000649289A0A3B3ITR2
ENSG00000204186ENST00000649441A0A3B3IRN6
ENSG00000204186ENST00000649525A0A3B3ITZ5
ENSG00000204186ENST00000649650Q9HCK1
ENSG00000204186ENST00000649650N0DVB2
ENSG00000204186ENST00000649998A0A3B3ISF7
ENSG00000204186ENST00000650097A0A3B3ISJ7

Expression (GTEx)

0
5
10
15
20
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
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
271394192016Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.3
271394192016Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.3
192004532009Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.30
192004532009Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.30

Citation

Dessen P

ZDBF2 (zinc finger DBF-type containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75904/zdbf2-(zinc-finger-dbf-type-containing-2)