CFHR2 complement factor H related 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFHR2provided by HGNC
Official Full Name: complement factor H related 2provided by HGNC
Primary source: HGNC:HGNC:4890
See related: Ensembl:ENSG00000080910 MIM:600889; AllianceGenome:HGNC:4890
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: FHR2; HFL3; CFHL2
Summary: This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Expression: Restricted expression toward liver (RPKM 292.8) See more
Orthologs: all
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Genomic context

Location:: 1q31.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (196943738..196959622)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (196205558..196221447)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (196912868..196928752)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Title: Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Studies indicate an association between CFHR2-rs2986127 and acute anterior uveitis (AAU) diagnosis.
Title: CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients.
Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR2]
Title: Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.
Title: Factor H-related proteins determine complement-activating surfaces.
Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
Title: Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
Thus CFHR2 likely acts in concert with factor H, as CFHR2 inhibits convertases while simultaneously allowing factor H assisted degradation by factor I.
Title: Human factor H-related protein 2 (CFHR2) regulates complement activation.
A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay.
Title: Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79164 (e-PCR)
- UniSTS:5139

SHGC-76083 (e-PCR)
- UniSTS:51849

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables complement component C3b binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytolysis by host of symbiont cells	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: complement factor H-related protein 2

Names: DDESK59; FHR-2; H factor (complement)-like 3; factor H-related gene 2; h factor-like 3; h factor-like protein 2

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

NG_042816.1 RefSeqGene

Range

4971..20855

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1216

mRNA and Protein(s)

NM_001312672.1 → NP_001299601.1 complement factor H-related protein 2 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two consecutive exons, but maintains the reading frame compared to variant 1. The resulting shorter isoform (2) is missing an internal protein segment compared to isoform 1.

Source sequence(s)

BC022283, BG563114, X64877

Consensus CDS

CCDS91136.1

UniProtKB/TrEMBL

A0A3B3IS28

Related

ENSP00000497089.1, ENST00000473386.1

Conserved Domains (1) summary

cd00033
Location:25 → 79

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
NM_001410924.1 → NP_001397853.1 complement factor H-related protein 2 isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AL139418

Consensus CDS

CCDS91135.1

UniProtKB/TrEMBL

A0A3B3IRW0

Related

ENSP00000496889.1, ENST00000496448.6
NM_005666.4 → NP_005657.1 complement factor H-related protein 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_005657.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL139418, BC022283

Consensus CDS

CCDS30959.1

UniProtKB/Swiss-Prot

P36980, Q14310, Q5T9T1

UniProtKB/TrEMBL

V9GYE7

Related

ENSP00000356385.4, ENST00000367415.8

Conserved Domains (1) summary

cl27761
Location:72 → 265

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

196943738..196959622

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509459.3 → XP_011507761.1 complement factor H-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A8V8TQS1, V9GYE7

Related

ENSP00000514689.1, ENST00000489703.2

Conserved Domains (1) summary

cd00033
Location:129 → 183

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
XM_011509458.3 → XP_011507760.1 complement factor H-related protein 2 isoform X1

UniProtKB/TrEMBL

V9GYE7

Conserved Domains (1) summary

cd00033
Location:145 → 199

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
XM_017001109.2 → XP_016856598.1 complement factor H-related protein 2 isoform X3

UniProtKB/TrEMBL

A0A3B3ISW6, V9GYE7

Related

ENSP00000497428.2, ENST00000649960.2
XM_011509460.3 → XP_011507762.1 complement factor H-related protein 2 isoform X4

UniProtKB/TrEMBL

A0A3B3IS00

Conserved Domains (1) summary

cd00033
Location:80 → 134

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

Reference GRCh38.p14 PATCHES

Genomic

NW_025791754.1 Reference GRCh38.p14 PATCHES

Range

708861..724748

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332748.1 → XP_054188723.1 complement factor H-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A8V8TQS1
XM_054332747.1 → XP_054188722.1 complement factor H-related protein 2 isoform X1
XM_054332749.1 → XP_054188724.1 complement factor H-related protein 2 isoform X3

UniProtKB/TrEMBL

A0A3B3ISW6
XM_054332750.1 → XP_054188725.1 complement factor H-related protein 2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

196205558..196221447

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336211.1 → XP_054192186.1 complement factor H-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A8V8TQS1
XM_054336210.1 → XP_054192185.1 complement factor H-related protein 2 isoform X1
XM_054336212.1 → XP_054192187.1 complement factor H-related protein 2 isoform X4