ZNF248 (zinc finger protein 248)

2014-11-01  

Identity

HGNC
ZNF248
LOCATION
10p11.21
LOCUSID
57209
ALIAS
bA162G10.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57209
HGNC: 13041
Ensembl: ENSG00000198105

Variants:

dbSNP: 57209
ClinVar: 57209
TCGA: ENSG00000198105
COSMIC: ZNF248

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198105ENST00000357328Q8NDW4
ENSG00000198105ENST00000357328A2RUI7
ENSG00000198105ENST00000374648Q8NDW4
ENSG00000198105ENST00000395867Q8NDW4
ENSG00000198105ENST00000395867A2RUI7
ENSG00000198105ENST00000395873B1AL40
ENSG00000198105ENST00000395874B1AL42
ENSG00000198105ENST00000485560S4R340
ENSG00000198105ENST00000611278Q8NDW4
ENSG00000198105ENST00000615949A0A087WTK3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436

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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
272385792016Gene-based analysis identified the gene ZNF248 is associated with late-onset asthma in African Americans.0

Citation

Dessen P

ZNF248 (zinc finger protein 248)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76048/znf248