NFRKB (nuclear factor related to kappaB binding protein)

2011-06-01  

Identity

HGNC
NFRKB
LOCATION
11q24.3
LOCUSID
4798
ALIAS
INO80G
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4798
MIM: 164013
HGNC: 7802
Ensembl: ENSG00000170322

Variants:

dbSNP: 4798
ClinVar: 4798
TCGA: ENSG00000170322
COSMIC: NFRKB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170322ENST00000446488Q6P4R8
ENSG00000170322ENST00000446488A0A024R3K9
ENSG00000170322ENST00000524746Q6P4R8
ENSG00000170322ENST00000524746A0A024R3K9
ENSG00000170322ENST00000524794Q6P4R8
ENSG00000170322ENST00000526884E9PM88
ENSG00000170322ENST00000526940E9PQB0
ENSG00000170322ENST00000529319E9PJG2
ENSG00000170322ENST00000530278E9PJU3
ENSG00000170322ENST00000531318E9PJE1
ENSG00000170322ENST00000531755E9PQ59
ENSG00000170322ENST00000532225E9PJG2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
DNA Damage Recognition in GG-NERREACTOMER-HSA-5696394
DeubiquitinationREACTOMER-HSA-5688426
UCH proteinasesREACTOMER-HSA-5689603

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
384231962024A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.0
384231962024A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.0
350934372022The biological function of metazoan-specific subunit nuclear factor related to kappaB binding protein of INO80 complex.3
350934372022The biological function of metazoan-specific subunit nuclear factor related to kappaB binding protein of INO80 complex.3
345916012021Nuclear Factor Related to KappaB Binding Protein (NFRKB) Is a Telomere-Associated Protein and Involved in Liver Cancer Development.1
345916012021Nuclear Factor Related to KappaB Binding Protein (NFRKB) Is a Telomere-Associated Protein and Involved in Liver Cancer Development.1
323515842020LncRNA DRAIC inhibits proliferation and metastasis of gastric cancer cells through interfering with NFRKB deubiquitination mediated by UCHL5.23
323515842020LncRNA DRAIC inhibits proliferation and metastasis of gastric cancer cells through interfering with NFRKB deubiquitination mediated by UCHL5.23
257028702015Mechanism of UCH-L5 activation and inhibition by DEUBAD domains in RPN13 and INO80G.65
257028702015Mechanism of UCH-L5 activation and inhibition by DEUBAD domains in RPN13 and INO80G.65
222919762012Upregulation of nuclear factor-related kappa B suggests a disorder of transcriptional regulation in minimal change nephrotic syndrome.11
229844422012Structure of a novel winged-helix like domain from human NFRKB protein.3
222919762012Upregulation of nuclear factor-related kappa B suggests a disorder of transcriptional regulation in minimal change nephrotic syndrome.11
229844422012Structure of a novel winged-helix like domain from human NFRKB protein.3
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37

Citation

Dessen P

NFRKB (nuclear factor related to kappaB binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52249