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

ENSG00000123843 ∙ NCBI:725 ∙ OMIM:120831 ∙ HGNC:1328 ∙ Uniprot:P20851 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	3	4
missense			9	4		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region				1	1	2
non coding					6	6
Total	0	0	9	6	9

Variants in C4BPB

This is a list of pathogenic ClinVar variants found in the C4BPB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-207089560-T-C		not specified	Uncertain significance (Aug 29, 2022)
1-207089566-C-T		not specified	Likely benign (May 22, 2023)
1-207089587-A-G		not specified	Uncertain significance (Jul 25, 2023)
1-207089635-T-G			Benign (Nov 10, 2018)
1-207090194-C-T			Benign (Jun 19, 2021)
1-207090315-C-T			Benign (Jun 26, 2018)
1-207090319-C-G		not specified	Uncertain significance (May 06, 2024)
1-207090354-C-T			Benign (Jun 26, 2018)
1-207090391-G-C		not specified	Likely benign (May 30, 2023)
1-207090478-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-207090484-A-G		not specified	Benign (Nov 10, 2018)
1-207091722-C-T		not specified	Uncertain significance (Dec 26, 2023)
1-207091763-C-T		not specified	Likely benign (May 24, 2023)
1-207091828-C-A			Likely benign (Jul 01, 2022)
1-207092085-G-A			Benign (Jun 19, 2021)
1-207096510-C-T		not specified	Benign (Mar 28, 2016)
1-207096513-T-C		not specified	Benign (Jun 09, 2021)
1-207096574-C-T		not specified	Benign (Jun 09, 2021)
1-207098127-G-GCCTTGTTCTAATTTCTGTT		C4BPB-related disorder	Likely benign (Aug 14, 2023)
1-207098166-G-A		C4BPB-related disorder	Likely benign (Feb 18, 2022)
1-207098228-C-T			Likely benign (Jun 18, 2018)
1-207098231-G-C		not specified	Uncertain significance (Dec 11, 2023)
1-207098242-A-C		not specified	Uncertain significance (Jan 26, 2023)
1-207098517-T-G			Benign (Jun 18, 2021)
1-207099829-A-C		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C4BPB	protein_coding	protein_coding	ENST00000243611	6	11152

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000440	0.655	125731	0	13	125744	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.463	120	135	0.888	0.00000674	1676
Missense in Polyphen		23	33.171	0.69337		433
Synonymous	0.117	48	49.0	0.979	0.00000277	431
Loss of Function	0.870	8	11.1	0.719	5.56e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000541	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000163	0.000163
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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