C4BPB (complement component 4 binding protein beta)

2014-11-01  

Identity

HGNC
C4BPB
LOCATION
1q32.1
LOCUSID
725
ALIAS
C4BP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 725
MIM: 120831
HGNC: 1328
Ensembl: ENSG00000123843

Variants:

dbSNP: 725
ClinVar: 725
TCGA: ENSG00000123843
COSMIC: C4BPB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123843ENST00000243611P20851
ENSG00000123843ENST00000367076P20851
ENSG00000123843ENST00000367078P20851
ENSG00000123843ENST00000391923P20851
ENSG00000123843ENST00000452902Q5VVQ7

Expression (GTEx)

0
50
100
150
200
250
300
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
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
PertussisKEGGko05133
PertussisKEGGhsa05133
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Regulation of Complement cascadeREACTOMER-HSA-977606

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
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
194943112009Clinical isolates of Streptococcus pneumoniae bind the complement inhibitor C4b-binding protein in a PspC allele-dependent fashion.41
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
121937282002Vitamin K-dependent protein S localizing complement regulator C4b-binding protein to the surface of apoptotic cells.25
175979972007The tale of protein S and C4b-binding protein, a story of affection.24
202121712010C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.20
202121712010C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.20
163305382006Human C4b-binding protein, structural basis for interaction with streptococcal M protein, a major bacterial virulence factor.19
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19

Citation

Dessen P

C4BPB (complement component 4 binding protein beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61193/c4bpb