C4BPA (complement component 4 binding protein alpha)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 722
Gene name Complement component 4 binding protein alpha
Gene symbol C4BPA
Synonyms (NCBI Gene)
C4BPPRP
Chromosome 1
Chromosome location 1q32.2
Summary This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble
miRNA miRNA information provided by mirtarbase database.
4
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT2189455 hsa-miR-216a CLIP-seq
MIRT2189456 hsa-miR-330-3p CLIP-seq
MIRT2189457 hsa-miR-371-5p CLIP-seq
MIRT2189458 hsa-miR-371b-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002456 Process T cell mediated immunity IBA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 14607961, 16330538, 17244159
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120830 1325 ENSG00000123838
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04003
Protein name C4b-binding protein alpha chain (C4bp) (Proline-rich protein) (PRP)
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
PDB 2A55 , 4B0F , 5HYP , 5HYT , 5HYU , 5HZP , 5I0Q , 8TCB , 8TGT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 50 → 108 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 113 → 170 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 175 → 234 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 239 → 294 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 299 → 362 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 365 → 422 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 426 → 480 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 484 → 538 Sushi repeat (SCR repeat) Domain
PF18453 C4bp_oligo 541 → 589 Oligomerization domain of C4b-binding protein alpha Domain
Tissue specificity TISSUE SPECIFICITY: Chylomicrons in the plasma.
Sequence
Sequence length 597
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Complement and coagulation cascades
Pertussis 		  Regulation of Complement cascade
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (5)
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 Evidence Score
BELL'S PALSY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
C4BPA-related disorder Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (78)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 8443374
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 19076829
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 29443105
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern BEFREE 29443105
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35212939, 37307028 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 26658464, 31194501
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia BEFREE 29443105
★★★★★
★☆☆☆☆
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
Atypical Hemolytic Uremic Syndrome Hemolytic uremic syndrome Pubtator 18424762 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only