C4A (complement C4A (Rodgers blood group))

2009-05-01 Affiliation

Identity

HGNC

C4A

LOCATION

6p21.33

LOCUSID

720

ALIAS

C4,C4A2,C4A3,C4A4,C4A6,C4AD,C4S,CO4,CPAMD2,RG

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: 720
MIM: 120810
HGNC: 1323
Ensembl: ENSG00000244731

Variants:

dbSNP: 720
ClinVar: 720
TCGA: ENSG00000244731
COSMIC: C4A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000244731	ENST00000428956	P0C0L4
ENSG00000244731	ENST00000498271	P0C0L4

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
22297669	2012	Pros and cons for C4d as a biomarker.	34
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
18636124	2008	Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.	32
20498262	2010	Secreted Aspergillus fumigatus protease Alp1 degrades human complement proteins C3, C4, and C5.	30
15039137	2004	Complement factors c3a, c4a, and c5a in chronic obstructive pulmonary disease and asthma.	28
22949645	2012	Structural basis for activation of the complement system by component C4 cleavage.	27

Citation

Dessen P

C4A (complement C4A (Rodgers blood group))

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50897/c4a