TFAP2B (transcription factor AP-2 beta)

2003-02-01  

Identity

HGNC
TFAP2B
LOCATION
6p12.3
LOCUSID
7021
ALIAS
AP-2B,AP-2beta,AP2-B,PDA2

Other Information

Locus ID:

NCBI: 7021
MIM: 601601
HGNC: 11743
Ensembl: ENSG00000008196

Variants:

dbSNP: 7021
ClinVar: 7021
TCGA: ENSG00000008196
COSMIC: TFAP2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000008196ENST00000344788X6R4Y8
ENSG00000008196ENST00000393655Q92481

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

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
SUMOylation of transcription factorsREACTOMER-HSA-3232118
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsREACTOMER-HSA-8864260
Activation of the TFAP2 (AP-2) family of transcription factorsREACTOMER-HSA-8866907
TFAP2 (AP-2) family regulates transcription of growth factors and their receptorsREACTOMER-HSA-8866910
Negative regulation of activity of TFAP2 (AP-2) family transcription factorsREACTOMER-HSA-8866904

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
195571612009Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.204
195571612009Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.204
155699942004Expression of matrix metalloproteinase (MMP)-2 and MMP-9 in breast cancer with a special reference to activator protein-2, HER2, and prognosis.85
207245812010Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies.47
175257482007Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR.34
176304312007Tumor-specific activation of human telomerase reverses transcriptase promoter activity by activating enhancer-binding protein-2beta in human lung cancer cells.26
115053392001Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.25
159403932005Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus.19
159403932005Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus.19
167877062006Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder.19

Citation

Dessen P

TFAP2B (transcription factor AP-2 beta)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42527/tfap2b