C4B (complement C4B (Chido blood group))

2009-05-01 Affiliation

Identity

HGNC

C4B

LOCATION

6p21.33

LOCUSID

721

ALIAS

C4B1,C4B12,C4B2,C4B3,C4B5,C4BD,C4B_2,C4F,CH,CO4,CPAMD3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 721
MIM: 120820
HGNC: 1324
Ensembl: ENSG00000224389

Variants:

dbSNP: 721
ClinVar: 721
TCGA: ENSG00000224389
COSMIC: C4B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000224389	ENST00000425700	F5GXS0
ENSG00000224389	ENST00000435363	P0C0L5
ENSG00000224389	ENST00000647698	A0A3B3ISA6
ENSG00000224389	ENST00000649658	A0A3B3ISD7

Expression (GTEx)

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

Pathway	Source	External ID
Complement and coagulation cascades	KEGG	ko04610
Systemic lupus erythematosus	KEGG	ko05322
Complement and coagulation cascades	KEGG	hsa04610
Systemic lupus erythematosus	KEGG	hsa05322
Staphylococcus aureus infection	KEGG	ko05150
Staphylococcus aureus infection	KEGG	hsa05150
Pertussis	KEGG	ko05133
Pertussis	KEGG	hsa05133
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Complement cascade	REACTOME	R-HSA-166658
Initial triggering of complement	REACTOME	R-HSA-166663
Activation of C3 and C5	REACTOME	R-HSA-174577
Regulation of Complement cascade	REACTOME	R-HSA-977606

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
26814963	2016	Schizophrenia risk from complex variation of complement component 4.	494
17503323	2007	Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.	164
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
21642539	2011	Binding of flavivirus nonstructural protein NS1 to C4b binding protein modulates complement activation.	62
16889542	2006	C4d and C3d staining in biopsies of ABO- and HLA-incompatible renal allografts: correlation with histologic findings.	47
12907438	2004	Coagulation, inflammation, and apoptosis: different roles for protein S and the protein S-C4b binding protein complex.	44
23911397	2013	Toward a structure-based comprehension of the lectin pathway of complement.	34
20139276	2010	Complement component C3 binds to activated normal platelets without preceding proteolytic activation and promotes binding to complement receptor 1.	33
23006730	2012	Preeclampsia is characterized by placental complement dysregulation.	32
15816885	2005	Incidence of C4d stain in protocol biopsies from renal allografts: results from a multicenter trial.	28

Citation

Dessen P

C4B (complement C4B (Chido blood group))

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50871/c4b