C4Bcomplement component 4B
Autism Reports / Total Reports
4 / 6Rare Variants / Common Variants
1 / 1Aliases
C4B, CH, C4A, C4F, CO4, C4B1, C4B2, C4B3, C4B5, C4A13, C4A91, C4B12, CPAMD3Associated Syndromes
-Chromosome Band
6p21.33Associated Disorders
-Relevance to Autism
Genetic association has been found between the C4B gene and autism (Odell et al., 2005). As well, studies have found decreased plasma concentrations of the C4B protein in autistic patients.
Molecular Function
The encoded protein is part of the classical pathway of the complement system.
External Links
SFARI Genomic Platforms
Reports related to C4B (6 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Confirmation of the association of the C4B null allelle in autism | Odell D , et al. (2005) | Yes | - |
2 | Support | Both rare and common genetic variants contribute to autism in the Faroe Islands | Leblond CS , et al. (2019) | Yes | - |
3 | Highly Cited | Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility | Fielder AH , et al. (1983) | No | - |
4 | Highly Cited | Diversity of sites for measles virus binding and for inactivation of complement C3b and C4b on membrane cofactor protein CD46 | Iwata K , et al. (1995) | No | - |
5 | Positive Association | DR-positive T cells in autism: association with decreased plasma levels of the complement C4B protein | Warren RP , et al. (1995) | Yes | - |
6 | Positive Association | Decreased plasma concentrations of the C4B complement protein in autism | Warren RP , et al. (1994) | Yes | - |
Rare Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.3687C>A | p.Tyr1229Ter | stop_gained | Unknown | Not paternal | Simplex | 30675382 | Leblond CS , et al. (2019) |
Common Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
N/A | N/A | allele | - | - | - | 15694999 | Odell D , et al. (2005) |
SFARI Gene score
Strong Candidate
Nominal association in very small samples in a region of extended LD.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
Nominal association in very small samples in a region of extended LD.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
Nominal association in very small samples in a region of extended LD.
Reports Added
[New Scoring Scheme]1/1/2019
Decreased from 4 to 4
Description
Nominal association in very small samples in a region of extended LD.
7/1/2014
Increased from No data to 4
Description
Nominal association in very small samples in a region of extended LD.
4/1/2014
Increased from No data to 4
Description
Nominal association in very small samples in a region of extended LD.
Krishnan Probability Score
Score 0.43617950692486
Ranking 20366/25841 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94833360866604
Ranking 17641/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 5
Ranking 275/461 scored genes
[Show Scoring Methodology]
External PIN Data
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
C2 | Complement C2 | Human | Protein Binding | 717 | P06681 |
C4BPA | C4b-binding protein alpha chain | Human | Protein Binding | 722 | P04003 |
C5 | Complement C3 | Human | Protein Binding | 718 | P01024 |
CD46 | CD46 molecule, complement regulatory protein | Human | Protein Binding | 4179 | P15529 |
CFB | complement factor B | Human | Protein Binding | 629 | P00751 |
CR1 | Complement receptor type 1 | Human | Protein Binding | 1378 | P17927 |
MASP1 | mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) | Human | Protein Modification | 5648 | P48740 |