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    Cfhr4 complement factor H-related 4 [ Mus musculus (house mouse) ]

    Gene ID: 214403, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cfhr4provided by MGI
    Official Full Name
    complement factor H-related 4provided by MGI
    Primary source
    MGI:MGI:3646434
    See related
    Ensembl:ENSMUSG00000070594 AllianceGenome:MGI:3646434
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cfhrc; Gm4788; EG214403
    Summary
    Enables complement component C3b binding activity and heparin binding activity. Predicted to be involved in complement activation; proteolysis; and regulation of complement activation, alternative pathway. Located in extracellular space. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Orthologous to human CFH (complement factor H). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 14.7), liver E18 (RPKM 8.8) and 7 other tissues See more
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    Genomic context

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    See Cfhr4 in Genome Data Viewer
    Location:
    1 F; 1 61.62 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (139625657..139708977, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (139697919..139781239, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene complement factor H-related 3 Neighboring gene STARR-seq mESC enhancer starr_02482 Neighboring gene STARR-seq mESC enhancer starr_02483 Neighboring gene STARR-seq mESC enhancer starr_02484 Neighboring gene STARR-seq mESC enhancer starr_02485 Neighboring gene predicted gene, 26271 Neighboring gene STARR-seq mESC enhancer starr_02486 Neighboring gene STARR-seq mESC enhancer starr_02487 Neighboring gene STARR-seq mESC enhancer starr_02488 Neighboring gene predicted gene, 25619 Neighboring gene predicted gene, 41963

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification and sequence analysis of four complement factor H-related transcripts in mouse liver. Vik DP, et al. J Biol Chem, 1990 Feb 25. PMID 1689298
    2. Two factor H-related proteins from the mouse: expression analysis and functional characterization. Hellwage J, et al. Immunogenetics, 2006 Nov. PMID 17028856
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Potential readthrough

    Included gene: Cfhr3

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables complement component C3b binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables heparan sulfate proteoglycan binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in complement activation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of complement activation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of complement activation, alternative pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of serine-type endopeptidase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in symbiont cell surface ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    complement factor H-related protein C

    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.

    mRNA and Protein(s)

    1. NM_001029977.3 → NP_001025148.3  complement factor H-related protein C isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC115748, AJ871401, BC145444
      Consensus CDS
      CCDS35730.1
      UniProtKB/TrEMBL
      E9Q8B5, Q0KHD3
      Related
      ENSMUSP00000107620.3, ENSMUST00000111989.9
      Conserved Domains (3) summary
      cd00033
      Location:759 → 813
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:208 → 448
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:512 → 565
      Sushi; Sushi repeat (SCR repeat)

    2. NM_001160303.1 → NP_001153775.1  complement factor H-related protein C isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC115748, AC165300, BC145444
      UniProtKB/TrEMBL
      B2RUG5
      Related
      ENSMUSP00000027612.9, ENSMUST00000027612.11
      Conserved Domains (3) summary
      cd00033
      Location:758 → 812
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:208 → 447
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:511 → 564
      Sushi; Sushi repeat (SCR repeat)

    3. NM_001160304.1 → NP_001153776.1  complement factor H-related protein C isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC115748, AJ871402, BC013664, BC145444
      Consensus CDS
      CCDS48387.1
      UniProtKB/TrEMBL
      E9Q8B6, Q0KHD2
      Related
      ENSMUSP00000107617.3, ENSMUST00000111986.8
      Conserved Domains (3) summary
      cd00033
      Location:700 → 754
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:510 → 755
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:512 → 565
      Sushi; Sushi repeat (SCR repeat)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      139625657..139708977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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