CFHR4 Gene
protein-coding GIFtS: 51
GCID: GC01P196857
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complement factor H-related 4
(Previous symbol: CFHL4)
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Aliases
for CFHR4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Complement Factor H-Related 41 2 | | CFHL41 2 3 5 | | FHR41 2 3 5 | | FHR-41 2 3 | | Complement Factor H-Related Protein 42 |
Export aliases for CFHR4 gene to outside databasesPrevious GC identifers: GC01P195010 GC01P195123 GC01P168014 |
Summaries
for CFHR4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CFHR4:
This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR)proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasmaproteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). Thisprotein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate withlipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding differentisoforms (varying in the number of SCRs) have been described for this gene. (provided by RefSeq, Jan 2011)
UniProtKB/Swiss-Prot: FHR4_HUMAN, Q92496Function: Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism
Gene Wiki entry for CFHR4
|
Genomic Views
for CFHR4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for CFHR4
Other transcription factors
Search SABiosciences Chromatin IP Primers for CFHR4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFHR4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q31.3 HGNC cytogenetic band: 1q32CFHR4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P196857: view genomic region
(about GC identifiers)
Start:
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196,857,144 bp from pter |
End:
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196,887,843 bp from pter |
Size:
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30,700 bases |
Orientation:
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plus strand |
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Proteins
for CFHR4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FHR4_HUMAN, Q92496 (See
protein sequence)Recommended Name: Complement factor H-related protein 4 precursor Size: 331 amino acids; 37299 Da
Subunit: Homodimer
Subcellular location: Secreted
Secondary accessions: B1ALQ9 Q9UJY6Explore the universe of human proteins at neXtProt for CFHR4: NX_Q92496
Post-translational modifications:
Glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92496
CFHR4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001188479.1 NP_001188480.1 NP_006675.2
ENSEMBL proteins: ENSP00000356388 ENSP00000251424 ENSP00000356386
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- |
CFHR4 for ontologies About GeneDecksing
CFHR4 Antibody Products:
Assay Products for CFHR4: |
Protein
Domains /
Families
for CFHR4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CFHR4 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q92496ProtoNet protein and cluster: Q92496 1 Blocks protein family: IPB000436 Sushi domain/SCR domain/CCP module
UniProtKB/Swiss-Prot: FHR4_HUMAN, Q92496Similarity: Contains 5 Sushi (CCP/SCR) domains |
Function
for CFHR4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FHR4_HUMAN, Q92496Function: Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CFHR4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFHR4 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005319 | lipid transporter activity |
TAS | 9038172 |
CFHR4 for ontologies About GeneDecksing
|
Pathways & Interactions
for CFHR4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CFHR4
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
3 Interacting proteins for CFHR4 (Q924963 ENSP000002514244) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
CFHR4 for ontologies About GeneDecksing
|
Drugs & Compounds
for CFHR4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CFHR4 for compounds About GeneDecksing
 Browse Tocris compounds for CFHR4
1 Novoseek chemical compound relationship for CFHR4 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| heparin |
37.9 |
3 |
10622723 (2), 10408366 (1) |
Search CenterWatch for drugs/clinical trials and news about CFHR4 / FHR4
|
Transcripts
for CFHR4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CFHR4 gene (3 alternative transcripts): NM_001201550.2 NM_001201551.1 NM_006684.4 Unigene Cluster for CFHR4: Complement factor H-related 4 Hs.710100 [show with all ESTs]Unigene Representative Sequence: NM_0012015503 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000367418 ENST00000251424 ENST00000367416(uc021pgt.1 uc009wyy.3 uc001gtp.3 uc001gto.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CFHR4
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CFHR4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): CFHR4 (NM_001201550) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CFHR4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFHR4 |
Additional cDNA sequence: AJ640130.2 AK292752.1 BC074957.2 X98337.1 2 DOTS entries: DT.92463778 DT.121454014 4 AceView cDNA sequences: BC074957 AV682723 NM_006684 X98337
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for CFHR4 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
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| SP1: | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | - | | - | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for CFHR4
|
Expression
for CFHR4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CFHR4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See CFHR4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CFHR4
SOURCE GeneReport for Unigene cluster: Hs.710100
UniProtKB/Swiss-Prot: FHR4_HUMAN, Q92496Tissue specificity: Expressed by the liver and secreted in plasma
SABiosciences Custom PCR Arrays for CFHR4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CFHR4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat CFHR4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CFHR4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CFHR4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFHR4 |
Orthologs
for CFHR4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CFHR4 gene from 2/10 species (see all 10) About this table
ENSEMBL Gene Tree for CFHR4 (if available)
TreeFam Gene Tree for CFHR4 (if available) |
Paralogs
for CFHR4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CFHR4 gene
- F13B2 APOH2 CFHR52 CFHR22 CFH2 CFHR32 CFHR12
8 SIMAP similar genes for CFHR4 using alignment to 4 protein entries: FHR4_HUMAN (see all proteins):FHR4 CFHR3 CFHL1P CFHR1 CFHR5 CFH
CFHR2 HF
CFHR4 for paralogs About GeneDecksing
|
Genomic Variants
for CFHR4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CFHR4 (196857144 - 196887843 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 38 variations for CFHR4
15/38 CNVs (see all 38): 48218 34655 34582 84768 29845 43700 48220 30449 38815 65567 48217 34583 48222 74846 2343 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for CFHR4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CFHR4 for disorders About GeneDecksing
OMIM gene information: 605337
OMIM disorders: --
10  diseases for CFHR4: About MalaCardskuhnt-junius degeneration hemolytic-uremic syndrome atypical hemolytic-uremic syndrome age related macular degeneration
systemic lupus erythematosus macular degeneration lupus erythematosus hepatitis b
nephropathy hepatitis
2 diseases from the University of Copenhagen DISEASES database for CFHR4:Kuhnt-Junius degeneration Age related macular degeneration Human Genome Epidemiology (HuGE) Navigator: CFHR4 (5 documents)
Export disorders for CFHR4 gene to outside databases
|
Publications
for CFHR4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CFHR4 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with CFHR4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The human factor H-related protein 4 (FHR-4). A novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins. (PubMed id 9038172)1, 2, 3, 9 Skerka C.... Zipfel P.F. (1997)
- Biochemical and functional characterization of the factor-H-related protein 4 (FHR-4). (PubMed id 9476126)1, 2, 9 Hellwage J.... Zipfel P.F. (1997)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A radiation hybrid map of complement factor H and factor H-related genes. (PubMed id 10380701)1, 3 Diaz-Guillen M.A....Heine-Suner D. (1999)
- Human complement factor H-related protein 4 binds and recruits native pentameric C-reactive protein to necrotic cells. (PubMed id 19084272)1, 9 Mihlan M....JA^zsi M. (2009)
- Molecular basis of C-reactive protein binding and mod ulation of complement activation by factor H-related protein 4. (PubMed id 20042240)1, 9 Hebecker M....JA^zsi M. (2010)
- Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin. (PubMed id 10622723)1, 9 Hellwage J....Zipfel P.F. (1999)
- Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patien ts with atypical hemolytic uremic syndrome. (PubMed id 19861685)1, 9 Moore I....Marchbank K.J. (2010)
- Factor H-related protein 4 activates complement by ser ving as a platform for the assembly of alternative pathway C3 convertase via its interaction with C3b protein. (PubMed id 22518841)1 Hebecker M. and Jozsi M. (2012)
- Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. (PubMed id 21637784)1 Zhao J....Tsao B.P. (2011)
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External Searches for CFHR4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CFHR4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CFHR4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CFHR4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CFHR4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CFHR4 gene:
Search GeneIP for patents involving CFHR4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CFHR4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CFHR4 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CFHR4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFHR4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CFHR4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CFHR4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CFHR4 |
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 | | | CFHR4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFHR4 |
|  |  |  | | | | ThermoFisher Antibodies for CFHR4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFHR4 |
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