MYCBP2 (MYC binding protein 2)

2015-08-01  

Identity

HGNC
MYCBP2
LOCATION
13q22.3
LOCUSID
23077
ALIAS
Myc-bp2,PAM,PHR1,Phr
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23077
MIM: 610392
HGNC: 23386
Ensembl: ENSG00000005810

Variants:

dbSNP: 23077
ClinVar: 23077
TCGA: ENSG00000005810
COSMIC: MYCBP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005810ENST00000357337A0A499FJI4
ENSG00000005810ENST00000429715H7C3U4
ENSG00000005810ENST00000466564A0A087WY34
ENSG00000005810ENST00000544440O75592
ENSG00000005810ENST00000612956A0A0C4DGY7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
205345292010E3 ligases Arf-bp1 and Pam mediate lithium-stimulated degradation of the circadian heme receptor Rev-erb alpha.43
145598972004Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex.35
254605092015Atypical ubiquitin E3 ligase complex Skp1-Pam-Fbxo45 controls the core epithelial-to-mesenchymal transition-inducing transcription factors.28
152572862004PAM mediates sustained inhibition of cAMP signaling by sphingosine-1-phosphate.22
190007552009Sphingosine-1-phosphate induced mTOR-activation is mediated by the E3-ubiquitin ligase PAM.21
296435112018Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity.21
265173512015Clinical significance of high c-MYC and low MYCBP2 expression and their association with Ikaros dysfunction in adult acute lymphoblastic leukemia.18
257316992015MiR-1247-5p is overexpressed in castration resistant prostate cancer and targets MYCBP2.16
256345362015High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).6

Citation

Dessen P

MYCBP2 (MYC binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55356/mycbp2