Cfhr2 complement factor H-related 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfhr2provided by MGI
Official Full Name: complement factor H-related 2provided by MGI
Primary source: MGI:MGI:3611575
See related: Ensembl:ENSMUSG00000033898 AllianceGenome:MGI:3611575
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: FHR-B; Cfhrb_4/2
Summary: Enables complement component C3b binding activity and heparin binding activity. Predicted to be involved in complement activation. Located in extracellular space. Human ortholog(s) of this gene implicated in age related macular degeneration 1 and atypical hemolytic-uremic syndrome. Orthologous to human CFHR3 (complement factor H related 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver adult (RPKM 84.9), liver E18 (RPKM 77.2) and 1 other tissue See more
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Genomic context

Location:: 1 F; 1 61.62 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (139738030..139786437, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (139810292..139858699, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cfh and Cfhr2 genes are expressed in the mouse outer retina. Only Cfh mRNA was detected in the retinal pigment epithelium, but no protein.
Title: Localization of complement factor H gene expression and protein distribution in the mouse outer retina.

Submit: New GeneRIF Correction

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

NoName (e-PCR)
- UniSTS:490769

Cfh (e-PCR), detects polymorphism
- UniSTS:498465

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 heparin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor 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

General protein information

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Preferred Names: complement factor H-related protein B

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)

NM_001025575.2 → NP_001020746.1 complement factor H-related protein B precursor

See identical proteins and their annotated locations for NP_001020746.1

Status: VALIDATED

Source sequence(s)

AC115748, AJ565908

Consensus CDS

CCDS15339.1

UniProtKB/TrEMBL

A0A668KLU9, Q4LDF6

Related

ENSMUSP00000092065.4, ENSMUST00000094489.5

Conserved Domains (1) summary

cd00033
Location:212 → 266

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system