C4BPB (complement component 4 binding protein beta)

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Gene Gene information from NCBI Gene database.
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Entrez ID 725
Gene name Complement component 4 binding protein beta
Gene symbol C4BPB
Synonyms (NCBI Gene)
C4BP
Chromosome 1
Chromosome location 1q32.1
Summary This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into t
miRNA miRNA information provided by mirtarbase database.
2
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miRTarBase ID miRNA Experiments Reference
MIRT021565 hsa-miR-142-3p Microarray 17612493
MIRT022824 hsa-miR-124-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
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Transcription factor Regulation Reference
NFIC Activation 8598458
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
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GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 14607961
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS
GO:0005615 Component Extracellular space IDA 14607961, 22333221
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
120831 1328 ENSG00000123843
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20851
Protein name C4b-binding protein beta chain
Protein 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 diss
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 139 → 191 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 81 → 134 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 23 → 76 Sushi repeat (SCR repeat) Domain
Sequence 
MFFWCACCLMVAWRVSASDAEHCPELPPVDNSIFVAKEVEGQILGTYVCIKGYHLVGKKT
LFCNASKEWDNTTTECRLGHCPDPVLVNGEFSSSGPVNVSDKITFMCNDHYILKGSNRSQ
CLEDHTWAPPFPICKSRDCDPPGNPVHGYFEGNNFTLGSTISYYCEDRYYLVGVQEQQCV
DGEWSSALPVCKLIQEAPKPECEKALLAFQESKNLCEAMENFMQQLKESGMTMEELKYSL
ELKKAELKAKLL
Sequence length 252
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Complement and coagulation cascades Regulation of Complement cascade
Pertussis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
C4BPB-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (38)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration BEFREE 19076829
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 26658464
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 16679431 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 16679431 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 39864423 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome BEFREE 18424762, 19076829
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 37031449 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 23390292
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 35547734 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 3572915
★★★★★
★☆☆☆☆
Found in Text Mining only
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C4BPA 3 shared pathwaysComplement and coagulation cascades, Pertussis, Regulation of Complement cascade Related via 3 shared pathways including Complement and coagulation cascades, Pertussis. CFHR4 2 shared pathwaysComplement and coagulation cascades, Regulation of Complement cascade Related via 2 shared pathways including Complement and coagulation cascades, Regulation of Complement cascade. CFHR3 2 shared pathwaysComplement and coagulation cascades, Regulation of Complement cascade Related via 2 shared pathways including Complement and coagulation cascades, Regulation of Complement cascade. CFHR1 2 shared pathwaysComplement and coagulation cascades, Regulation of Complement cascade Related via 2 shared pathways including Complement and coagulation cascades, Regulation of Complement cascade. CFHR2 2 shared pathwaysComplement and coagulation cascades, Regulation of Complement cascade Related via 2 shared pathways including Complement and coagulation cascades, Regulation of Complement cascade.
Hemolytic uremic syndrome Linked via 3 of 5 related genesCFHR4, CFHR3, CFHR1 Kidney disease Linked via 3 of 5 related genesCFHR4, CFHR3, CFHR1 Age-related macular degeneration Linked via 3 of 5 related genesCFHR4, CFHR3, CFHR1 C3 glomerulonephritis Linked via 3 of 5 related genesCFHR3, CFHR1, CFHR2 Atrophic macular degeneration Linked via 2 of 5 related genesCFHR4, CFHR1