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    C4B complement C4B (Chido blood group) [ Homo sapiens (human) ]

    Gene ID: 721, updated on 26-Jul-2021

    Summary

    Official Symbol
    C4Bprovided by HGNC
    Official Full Name
    complement C4B (Chido blood group)provided by HGNC
    Primary source
    HGNC:HGNC:1324
    See related
    Ensembl:ENSG00000224389 MIM:120820
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CH; C4F; CO4; C4B1; C4B2; C4B3; C4B5; C4BD; C4B12; C4B_2; CPAMD3
    Summary
    This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]
    Expression
    Biased expression in liver (RPKM 500.9), adrenal (RPKM 103.5) and 6 other tissues See more
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    Genomic context

    See C4B in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32014795..32035418)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31982572..32003195)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tenascin XA (pseudogene) recombination region Neighboring gene cytochrome P450 family 21 subfamily A member 1, pseudogene Neighboring gene tenascin XA (pseudogene) Neighboring gene serine/threonine kinase 19B (pseudogene) Neighboring gene CYP21A2 5' regulatory region Neighboring gene CYP21A2 recombination region Neighboring gene tenascin XB recombination region Neighboring gene cytochrome P450 family 21 subfamily A member 2 Neighboring gene tenascin XB

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Complement component 4b deficiency
    MedGen: C3280641 OMIM: 614379 GeneReviews: Not available
    Compare labs
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Preincubation of HIV-1 gp41 with either factor H or properdin, and of HIV-1 gp120 with C3b or C4b affect the interaction between HIV-1 gp41 and gp120 PubMed
    env A synthetic peptide covering positions 233-251 of the HIV-1 gp120 protein binds to complement proteins C3, C4, C5, C9, and properdin PubMed
    env Complement proteins C4, C3d, C5b-9, and properdin bind to HIV-1 gp120-coated CD4+ T cells of healthy individuals when incubated in autologous serum PubMed
    env Amino acid residues 410-449 of HIV-1 gp120 are involved in its binding to C4b PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ60561, MGC164979

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables complement binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in complement activation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of molecule of bacterial origin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in opsonization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of apoptotic cell clearance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in blood microparticle HDA PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in symbiont cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    complement C4-B
    Names
    C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3
    Chido form of C4
    basic complement C4
    complement C4B1a
    complement component 4B (Chido blood group)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011639.1 RefSeqGene

      Range
      5002..25625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_138

    mRNA and Protein(s)

    1. NM_001002029.4NP_001002029.3  complement C4-B preproprotein

      See identical proteins and their annotated locations for NP_001002029.3

      Status: REVIEWED

      Source sequence(s)
      AL645922
      Consensus CDS
      CCDS47405.1
      UniProtKB/Swiss-Prot
      P0C0L4, P0C0L5
      Related
      ENSP00000415941.2, ENST00000435363.7
      Conserved Domains (8) summary
      cd00017
      Location:686750
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cd02896
      Location:9961315
      complement_C3_C4_C5; Proteins similar to C3, C4 and C5 of vertebrate complement. The vertebrate complement system, comprised of a large number of distinct plasma proteins, is an effector of both the acquired and innate immune systems. The point of convergence of the ...
      cd03584
      Location:15881742
      NTR_complement_C4; NTR/C345C domain, complement C4 subfamily; The NTR domain found in complement C4 is also known as the C345C domain because it occurs at the C-terminus of complement C3, C4 and C5. Complement C4 is a key player in the activation of the component classical ...
      pfam00207
      Location:782869
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:141233
      A2M_N; MG2 domain
      pfam07677
      Location:14811570
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:10511317
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:478610
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      32014795..32035418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      3459484..3473740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

      Range
      3262570..3276826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

      Range
      3315984..3336608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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