C4BPB

complement component 4 binding protein beta, the group of Complement system regulators and receptors|Sushi domain containing

Basic information

Region (hg38): 1:207088860-207099993

Previous symbols: [ "C4BP" ]

Links

ENSG00000123843NCBI:725OMIM:120831HGNC:1328Uniprot:P20851AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C4BPB gene.

  • not_specified (27 variants)
  • not_provided (6 variants)
  • C4BPB-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C4BPB gene is commonly pathogenic or not. These statistics are base on transcript: NM_001017365.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
2
clinvar
3
missense
23
clinvar
4
clinvar
27
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 23 6 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
C4BPBprotein_codingprotein_codingENST00000243611 611152
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00004400.6551257310131257440.0000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4631201350.8880.000006741676
Missense in Polyphen2333.1710.69337433
Synonymous0.1174849.00.9790.00000277431
Loss of Function0.870811.10.7195.56e-7128

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005780.0000578
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00005410.0000527
Middle Eastern0.000.00
South Asian0.0001630.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S.;
Pathway
Complement and coagulation cascades - Homo sapiens (human);Pertussis - Homo sapiens (human);Innate Immune System;Immune System;FOXA1 transcription factor network;Regulation of Complement cascade;Complement cascade (Consensus)

Recessive Scores

pRec
0.133

Intolerance Scores

loftool
0.962
rvis_EVS
0.13
rvis_percentile_EVS
63

Haploinsufficiency Scores

pHI
0.0690
hipred
N
hipred_score
0.123
ghis
0.401

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.471

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
complement activation, classical pathway;blood coagulation;regulation of complement activation;innate immune response;positive regulation of protein catabolic process;negative regulation of complement activation, classical pathway;regulation of opsonization
Cellular component
extracellular region;extracellular space;plasma membrane;other organism cell
Molecular function
protein binding