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

Gene ID: 214403, updated on 9-Dec-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, Dec 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
  • 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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