C4A_2

Summary

C4A_2 (complement component 4A (Chido/Rodgers blood group), copy 2, HGNC:58753) is a protein-coding gene on chromosome 6p21.33 alternate reference locus.

At a glance

• MANE Select transcript: NM_001352000

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:58753
Approved symbol	C4A_2
Name	complement component 4A (Chido/Rodgers blood group), copy 2
Location	6p21.33 alternate reference locus
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000227746
Entrez	110384692

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 1 — MANE Select: NM_001352000 NM_001352000

Canonical transcript exons

ENST00000421274 — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	294.10
E-MTAB-5061	yes	18.39
E-GEOD-110499	no	1226.98
E-GEOD-75688	no	235.89

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (1): P0C0L4

RefSeq proteins (1): NP_001338929* (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-166663	Initial triggering of complement
R-HSA-174577	Activation of C3 and C5
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation
R-HSA-977606	Regulation of Complement cascade
R-HSA-9920588	Dengue virus activates/modulates innate and adaptive immune responses

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): immune system process (GO:0002376), inflammatory response (GO:0006954), complement activation (GO:0006956), complement activation, classical pathway (GO:0006958), innate immune response (GO:0045087), complement activation, GZMK pathway (GO:0160257), positive regulation of apoptotic cell clearance (GO:2000427)

GO Molecular Function (4): complement binding (GO:0001848), complement component C1q complex binding (GO:0001849), endopeptidase inhibitor activity (GO:0004866), protein binding (GO:0005515)

GO Cellular Component (12): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), cell surface (GO:0009986), axon (GO:0030424), dendrite (GO:0030425), cell projection (GO:0042995), neuronal cell body (GO:0043025), synapse (GO:0045202), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Complement cascade	3
Metabolism of proteins	1
Post-translational protein modification	1
Dengue Virus-Host Interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
complement activation	2
neuron projection	2
biological_process	1
defense response	1
immune effector process	1
activation of immune response	1
humoral immune response	1
protein activation cascade	1
humoral immune response mediated by circulating immunoglobulin	1
immune response	1
defense response to symbiont	1
innate immune response	1
apoptotic cell clearance	1
positive regulation of phagocytosis	1
regulation of apoptotic cell clearance	1
protein binding	1
opsonin binding	1
complement binding	1
protein-containing complex binding	1
endopeptidase activity	1
peptidase inhibitor activity	1
endopeptidase regulator activity	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
membrane	1
cell periphery	1
dendritic tree	1
somatodendritic compartment	1
cell body	1
cell junction	1
extracellular vesicle	1
extracellular region	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1003761200 (6:32027148 T>A), RS1012400686 (6:32027039 C>G,T), RS1016876596 (6:32030374 T>C), RS1022362121 (6:32027490 T>G), RS1023879145 (6:32013343 C>G,T), RS1025931829 (6:32030131 A>C,G), RS1027152766 (6:32013179 G>A,T), RS1030969879 (6:32013501 C>T), RS1040725112 (6:32013019 C>T), RS1043957144 (6:32029457 G>A), RS1044841490 (6:32028627 C>T), RS1048112114 (6:32026847 G>A), RS1048557718 (6:32028389 GA>G), RS1053072409 (6:32029307 C>T), RS112636917 (6:32027901 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.