CFHR4
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Also known as FHR-4FHR4
Summary
CFHR4 (complement factor H related 4, HGNC:16979) is a protein-coding gene on chromosome 1q31.3, encoding Complement factor H-related protein 4 (Q92496). Involved in complement regulation.
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 plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene.
Source: NCBI Gene 10877 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 213 total — 1 pathogenic
- MANE Select transcript:
NM_001201550
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16979 |
| Approved symbol | CFHR4 |
| Name | complement factor H related 4 |
| Location | 1q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FHR-4, FHR4 |
| Ensembl gene | ENSG00000134365 |
| Ensembl biotype | protein_coding |
| OMIM | 605337 |
| Entrez | 10877 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000251424, ENST00000367416, ENST00000608469, ENST00000647770, ENST00000699463, ENST00000699464, ENST00000699465, ENST00000883274, ENST00000883275, ENST00000883276, ENST00000883277, ENST00000883278, ENST00000883279
RefSeq mRNA: 3 — MANE Select: NM_001201550
NM_001201550, NM_001201551, NM_006684
CCDS: CCDS41451, CCDS55671, CCDS91133
Canonical transcript exons
ENST00000608469 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001444458 | 196907316 | 196907498 |
| ENSE00001444462 | 196918210 | 196918633 |
| ENSE00002270122 | 196902418 | 196902615 |
| ENSE00002278541 | 196910281 | 196910478 |
| ENSE00002324799 | 196914956 | 196915138 |
| ENSE00002329968 | 196906861 | 196907037 |
| ENSE00002353452 | 196912740 | 196912922 |
| ENSE00002368255 | 196914495 | 196914671 |
| ENSE00002423662 | 196905108 | 196905290 |
| ENSE00003833940 | 196888052 | 196888208 |
Expression profiles
Bgee: expression breadth broad, 79 present calls, max score 96.81.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0120 / max 6.6445, expressed in 6 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 7508 | 0.0120 | 6 |
Top tissues by expression
114 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 96.81 | gold quality |
| liver | UBERON:0002107 | 95.64 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.30 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 62.75 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 46.68 | silver quality |
| apex of heart | UBERON:0002098 | 41.46 | silver quality |
| colonic epithelium | UBERON:0000397 | 41.01 | gold quality |
| primary visual cortex | UBERON:0002436 | 40.70 | gold quality |
| ventricular zone | UBERON:0003053 | 40.63 | gold quality |
| tibial nerve | UBERON:0001323 | 40.48 | gold quality |
| lymph node | UBERON:0000029 | 40.17 | gold quality |
| stromal cell of endometrium | CL:0002255 | 39.90 | gold quality |
| urinary bladder | UBERON:0001255 | 39.28 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 38.83 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 37.92 | gold quality |
| granulocyte | CL:0000094 | 37.27 | gold quality |
| endocervix | UBERON:0000458 | 37.16 | gold quality |
| prefrontal cortex | UBERON:0000451 | 36.70 | gold quality |
| sural nerve | UBERON:0015488 | 36.53 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| muscle tissue | UBERON:0002385 | 36.41 | silver quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| spleen | UBERON:0002106 | 36.03 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 35.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 35.47 | gold quality |
| kidney | UBERON:0002113 | 35.47 | gold quality |
| frontal cortex | UBERON:0001870 | 34.74 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 34.26 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 34.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting CFHR4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-4795-5P | 99.11 | 66.90 | 876 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
| HSA-MIR-8078 | 98.32 | 65.73 | 361 |
| HSA-MIR-4684-3P | 98.24 | 69.91 | 1075 |
| HSA-MIR-6502-3P | 97.86 | 65.43 | 569 |
| HSA-MIR-495-5P | 97.62 | 68.28 | 682 |
| HSA-MIR-3190-3P | 97.61 | 66.95 | 1406 |
| HSA-MIR-4786-5P | 97.45 | 67.89 | 924 |
| HSA-MIR-3672 | 94.46 | 65.67 | 646 |
| HSA-MIR-6864-3P | 94.46 | 65.97 | 625 |
| HSA-MIR-769-5P | 94.45 | 64.56 | 603 |
Literature-anchored findings (GeneRIF, showing 15)
- FHR-4A is a new Factor H-related protein with a unique domain composition, that is an internal duplication of four CCP domains FHR-4A provides the first evidence for alternative splicing among Factor H-related genes. (PMID:15562282)
- These data identify CFHR4 as a novel ligand for native CRP, and suggest a role for CFHR4 in opsonization of necrotic cells. (PMID:19084272)
- Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. (PMID:19861685)
- These data reveal the molecular basis of the specific interaction of CFHR4 with native CRP and suggest a role for CFHR4 in enhancing opsonization via CRP binding. (PMID:20042240)
- Systemic lupus erythematosus were detected in European Americans and African Americans, which could be attributed to an intronic complement regulator factor H (CFH) single nucleotide polymorphism (SNP) and an intergenic SNP between CFHR1 and CFHR4. (PMID:21637784)
- Factor H-related protein 4 activates complement by serving as a platform for the assembly of alternative pathway C3 convertase via its interaction with C3b protein (PMID:22518841)
- 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. (PMID:25979655)
- 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. [CFHR4] (PMID:27196323)
- Reports an association between a rare variant in the complement factor H-related 4 (CFHR4) gene and phenytoin-induced maculopapular exanthema in Europeans. This variant is in complete linkage disequilibrium with a missense variant (N1050Y) in the complement factor H (CFH) gene. In addition, results reinforce the association between HLA-A*31:01 and carbamazepine hypersensitivity. (PMID:29288229)
- The combination of three proteins - apolipoprotein A-IV, complement factor H-related protein 4 and platelet basic protein - demonstrated the best classification performance for our data for diagnosis of growth hormone defic. (PMID:29317355)
- The SNP rs3753396 in CFH and SNP rs6685931 in CFHR4 are associated with systemic complement activation levels. The SNP rs6685931 in CFHR4 and its linked haplotype H1-2 also conferred a risk for age-related macular degeneration (AMD) development, and therefore could be used to identify AMD patients who would benefit most from complement-inhibiting therapies. (PMID:29398083)
- FHR-4 as a key molecular player contributing to complement dysregulation in the age-related macular degeneration.FHR-4 is expressed in the liver but not in the eye. (PMID:32034129)
- Identification of CFHR4 as a Potential Prognosis Biomarker Associated With lmmune Infiltrates in Hepatocellular Carcinoma. (PMID:35812416)
- CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome. (PMID:36793547)
- Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression. (PMID:38200010)
Cross-species orthologs
0 orthologs
Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SEZ6L (ENSG00000100095), SUSD6 (ENSG00000100647), SRPX (ENSG00000101955), SRPX2 (ENSG00000102359), C7 (ENSG00000112936), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), CSMD2 (ENSG00000121904), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), SEZ6L2 (ENSG00000174938), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CD55 (ENSG00000196352), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)
Protein
Protein identifiers
Complement factor H-related protein 4 — Q92496 (reviewed: Q92496)
All UniProt accessions (1): Q92496
UniProt curated annotations — full annotation on UniProt →
Function. Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.
Subunit / interactions. Homodimer.
Subcellular location. Secreted.
Tissue specificity. Expressed by the liver and secreted in plasma.
Post-translational modifications. Glycosylated.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q92496-1 | 1, FHR-4A | yes |
| Q92496-2 | 2 | |
| Q92496-3 | 3, FHR-4B |
RefSeq proteins (3): NP_001188479, NP_001188480, NP_006675 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000436 | Sushi_SCR_CCP_dom | Domain |
| IPR035976 | Sushi/SCR/CCP_sf | Homologous_superfamily |
| IPR051503 | ComplSys_Reg/VirEntry_Med | Family |
Pfam: PF00084
UniProt features (40 total): disulfide bond 16, domain 9, glycosylation site 7, sequence variant 3, splice variant 2, signal peptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92496-F1 | 87.75 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (16): 88–134, 117–145, 149–193, 176–204, 211–254, 240–265, 271–320, 303–331, 335–381, 364–392, 396–440, 423–451, 458–501, 487–512, 516–567, 550–577
Glycosylation sites (7): 127, 186, 206, 374, 433, 453, 557
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-977606 | Regulation of Complement cascade |
MSigDB gene sets: 58 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_COMPLEMENT_ACTIVATION, KLEIN_PRIMARY_EFFUSION_LYMPHOMA_UP, HSIAO_LIVER_SPECIFIC_GENES, CAIRO_HEPATOBLASTOMA_DN, GOBP_HUMORAL_IMMUNE_RESPONSE, GNF2_HPX, GOBP_IMMUNE_EFFECTOR_PROCESS, ACEVEDO_LIVER_CANCER_UP, GOBP_LIPID_LOCALIZATION, CAMPS_COLON_CANCER_COPY_NUMBER_DN, GOMF_LIPID_TRANSPORTER_ACTIVITY, GOMF_COMPLEMENT_BINDING, CAR_IGFBP1
GO Biological Process (2): complement activation (GO:0006956), lipid transport (GO:0006869)
GO Molecular Function (3): complement component C3b binding (GO:0001851), lipid carrier activity (GO:0005319), protein binding (GO:0005515)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Complement cascade | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune effector process | 1 |
| activation of immune response | 1 |
| humoral immune response | 1 |
| protein activation cascade | 1 |
| transport | 1 |
| lipid localization | 1 |
| opsonin binding | 1 |
| complement binding | 1 |
| molecular carrier activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
420 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CFHR4 | C3 | P01024 | 985 |
| CFHR4 | CRP | P02741 | 953 |
| CFHR4 | MYBPH | Q13203 | 785 |
| CFHR4 | C4BPB | P20851 | 755 |
| CFHR4 | DGKE | P52429 | 669 |
| CFHR4 | CFB | P00751 | 667 |
| CFHR4 | CD55 | P08174 | 659 |
| CFHR4 | C4A | P01028 | 643 |
| CFHR4 | CD46 | P15529 | 642 |
| CFHR4 | RBMS2 | Q15434 | 622 |
| CFHR4 | C4A | P01028 | 612 |
| CFHR4 | CNDP2 | Q96KP4 | 547 |
| CFHR4 | CFP | P27918 | 541 |
| CFHR4 | ADAMTS13 | Q76LX8 | 521 |
| CFHR4 | ARMS2 | P0C7Q2 | 516 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PTX3 | CFHR4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CFHR4 | CFHR4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CRP | CFHR4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDC42 | CFHR4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (3): CFHR4 (Co-fractionation), C3 (Reconstituted Complex), CFHR4 (Two-hybrid)
ESM2 similar proteins: A0A0B4J2E0, D3ZQE1, E9QA28, O00478, O00481, O75019, O75871, P01733, P06731, P0C191, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, P59901, Q00887, Q00888, Q00889, Q13046, Q13410, Q14002, Q15238, Q16557, Q28110, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q6PI73, Q810J1, Q863H2, Q8C567, Q8MJZ2, Q8N149, Q8N6C8
Diamond homologs: A0JNA2, P05160, P06909, P08603, P17927, P19070, P28175, P36980, Q02985, Q03591, Q07968, Q26422, Q28085, Q29RN8, Q4LDE5, Q53EL9, Q7TSK2, Q923L3, Q92496, Q9BXR6, A0A1D5NSM8, O02839, O08569, O19124, O57254, O62685, O62837, O88174, P00751, P02749, P04003, P04186, P06681, P08174, P08607, P0C6B8, P0DTN2, P10643, P15529, P20023
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
213 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 115 |
| Likely benign | 44 |
| Benign | 21 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4682509 | GRCh37/hg19 1q25.3-32.1(chr1:180800361-203181850)x3 | Pathogenic |
SpliceAI
1807 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:196902416:A:G | acceptor_gain | 1.0000 |
| 1:196905103:TTTA:T | acceptor_loss | 1.0000 |
| 1:196905104:TTA:T | acceptor_loss | 1.0000 |
| 1:196905104:TTAG:T | acceptor_loss | 1.0000 |
| 1:196905105:TA:T | acceptor_loss | 1.0000 |
| 1:196905106:A:AG | acceptor_gain | 1.0000 |
| 1:196905106:A:C | acceptor_loss | 1.0000 |
| 1:196905107:G:GA | acceptor_loss | 1.0000 |
| 1:196905107:G:GG | acceptor_gain | 1.0000 |
| 1:196905107:GGAAC:G | acceptor_gain | 1.0000 |
| 1:196905178:A:AG | acceptor_gain | 1.0000 |
| 1:196905286:CATTA:C | donor_gain | 1.0000 |
| 1:196905287:ATTA:A | donor_gain | 1.0000 |
| 1:196905288:TTA:T | donor_gain | 1.0000 |
| 1:196905289:TA:T | donor_gain | 1.0000 |
| 1:196905290:AG:A | donor_loss | 1.0000 |
| 1:196905290:AGTA:A | donor_loss | 1.0000 |
| 1:196905291:G:GG | donor_gain | 1.0000 |
| 1:196905292:T:A | donor_loss | 1.0000 |
| 1:196905292:TAA:T | donor_loss | 1.0000 |
| 1:196906857:TCAGA:T | acceptor_loss | 1.0000 |
| 1:196906859:A:AG | acceptor_gain | 1.0000 |
| 1:196906859:AGA:A | acceptor_loss | 1.0000 |
| 1:196906860:G:GA | acceptor_gain | 1.0000 |
| 1:196906860:GA:G | acceptor_gain | 1.0000 |
| 1:196906860:GAAT:G | acceptor_gain | 1.0000 |
| 1:196906860:GAATT:G | acceptor_gain | 1.0000 |
| 1:196907033:CTATA:C | donor_gain | 1.0000 |
| 1:196907034:TATA:T | donor_gain | 1.0000 |
| 1:196907035:ATA:A | donor_gain | 1.0000 |
AlphaMissense
3779 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:196907015:G:C | W198C | 0.999 |
| 1:196907015:G:T | W198C | 0.999 |
| 1:196907476:G:C | W259C | 0.999 |
| 1:196907476:G:T | W259C | 0.999 |
| 1:196910456:G:C | W325C | 0.998 |
| 1:196910456:G:T | W325C | 0.998 |
| 1:196902593:G:C | W78C | 0.997 |
| 1:196902593:G:T | W78C | 0.997 |
| 1:196905268:G:C | W139C | 0.997 |
| 1:196905268:G:T | W139C | 0.997 |
| 1:196910388:T:A | C303S | 0.997 |
| 1:196910389:G:A | C303Y | 0.997 |
| 1:196910389:G:C | C303S | 0.997 |
| 1:196910439:T:A | C320S | 0.997 |
| 1:196910440:G:C | C320S | 0.997 |
| 1:196906998:T:A | C193S | 0.996 |
| 1:196906999:G:C | C193S | 0.996 |
| 1:196907492:T:A | C265S | 0.996 |
| 1:196907493:G:C | C265S | 0.996 |
| 1:196910390:T:G | C303W | 0.996 |
| 1:196912900:G:C | W386C | 0.996 |
| 1:196912900:G:T | W386C | 0.996 |
| 1:196915116:G:C | W506C | 0.996 |
| 1:196915116:G:T | W506C | 0.996 |
| 1:196905200:T:A | C117S | 0.995 |
| 1:196905201:G:C | C117S | 0.995 |
| 1:196910454:T:A | W325R | 0.995 |
| 1:196910454:T:C | W325R | 0.995 |
| 1:196902525:T:A | C56S | 0.994 |
| 1:196902526:G:C | C56S | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000116391 (1:196889484 A>T), RS1000156731 (1:196904058 G>A), RS1000396942 (1:196895859 A>G), RS1000425966 (1:196901410 G>T), RS1000452664 (1:196913156 A>T), RS1000456593 (1:196890700 C>T), RS1000522530 (1:196901135 C>T), RS1000661123 (1:196907342 C>T), RS1000950620 (1:196897148 C>T), RS1000990616 (1:196907095 T>A,C), RS1001195991 (1:196914325 G>A), RS1001336219 (1:196889194 C>T), RS1001400425 (1:196918603 C>G,T), RS1001471550 (1:196888852 T>C), RS1001547819 (1:196901078 C>T)
Disease associations
OMIM: gene MIM:605337 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): kidney disorder (MONDO:0005240), atypical hemolytic-uremic syndrome (MONDO:0016244)
Orphanet (1): Atypical hemolytic uremic syndrome (Orphanet:2134)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001009_4 | Nephropathy | 3.000000e-10 |
| GCST001798_1 | End-stage coagulation | 1.000000e-09 |
| GCST001798_3 | End-stage coagulation | 2.000000e-30 |
| GCST001798_4 | End-stage coagulation | 5.000000e-30 |
| GCST001798_7 | End-stage coagulation | 3.000000e-19 |
| GCST001798_8 | End-stage coagulation | 7.000000e-19 |
| GCST001899_1 | Age-related macular degeneration | 1.000000e-16 |
| GCST001986_1 | Age-related macular degeneration | 1.000000e-31 |
| GCST001987_2 | Age-related macular degeneration (extreme sampling) | 9.000000e-24 |
| GCST005187_2 | Matrix metalloproteinase-8 levels | 2.000000e-35 |
| GCST005200_1 | Phenytoin-induced maculopapular exanthema | 5.000000e-11 |
| GCST005365_2 | Serum C3d:C3 ratio (systemic complement activation) | 6.000000e-08 |
| GCST90019045_1 | Complement factor H-related protein 4A levels | 6.000000e-26 |
| GCST90019045_2 | Complement factor H-related protein 4A levels | 6.000000e-39 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001253 | maculopapular eruption |
| EFO:0008543 | c3d:C3 ratio |
| EFO:0600057 | complement factor H-related protein 4A measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065766 | Atypical Hemolytic Uremic Syndrome | C12.050.351.968.419.936.463.500; C12.200.777.419.936.463.500; C12.950.419.936.463.500; C15.378.050.141.610.500; C15.378.140.855.925.500.500; C15.378.243.937.925.500.500 |
| D007674 | Kidney Diseases | C12.050.351.968.419; C12.200.777.419; C12.950.419 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs78239784 | Toxicity | 3 | phenytoin | Maculopapular Exanthema |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs78239784 | CFHR4 | 3 | 4.00 | 1 | phenytoin |
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Silicon Dioxide | affects expression, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline | decreases expression | 1 |
| 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Citrulline | increases expression | 1 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Glycocholic Acid | affects cotreatment, decreases expression | 1 |
| Glycodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Tartrazine | affects cotreatment, decreases expression | 1 |
| Triclosan | affects cotreatment, decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00067990 | PHASE4 | COMPLETED | Angiotensin II Blockade for Chronic Allograft Nephropathy |
| NCT00117078 | PHASE4 | COMPLETED | Aranesp® Monthly Preference Study - 2 |
| NCT00117130 | PHASE4 | COMPLETED | Study to Evaluate Effectiveness of Aranesp® |
| NCT00132431 | PHASE4 | COMPLETED | START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism |
| NCT00140985 | PHASE4 | COMPLETED | Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213) |
| NCT00246129 | PHASE4 | COMPLETED | CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation |
| NCT00275535 | PHASE4 | COMPLETED | The Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients |
| NCT00282217 | PHASE4 | COMPLETED | Study Evaluating Sirolimus in the Treatment of Kidney Transplant |
| NCT00289614 | PHASE4 | COMPLETED | Patients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT) |
| NCT00290069 | PHASE4 | UNKNOWN | Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA) |
| NCT00338468 | PHASE4 | TERMINATED | A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa) |
| NCT00368901 | PHASE4 | COMPLETED | STAAR-2 Clinical Study |
| NCT00369733 | PHASE4 | COMPLETED | STAAR-3 Clinical Study |
| NCT00369772 | PHASE4 | COMPLETED | STAAR-1 Clinical Study |
| NCT00379899 | PHASE4 | COMPLETED | ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis |
| NCT00443508 | PHASE4 | UNKNOWN | Reduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion |
| NCT00452478 | PHASE4 | TERMINATED | Conversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5 |
| NCT00492518 | PHASE4 | COMPLETED | Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy |
| NCT00505102 | PHASE4 | UNKNOWN | Safe Renal Function In Long Term Heart Transplanted Patients |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00688480 | PHASE4 | COMPLETED | Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction? |
| NCT00863707 | PHASE4 | COMPLETED | A Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment |
| NCT01101698 | PHASE4 | UNKNOWN | Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients |
| NCT01150201 | PHASE4 | COMPLETED | Aliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease |
| NCT01155141 | PHASE4 | COMPLETED | Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH |
| NCT01228279 | PHASE4 | COMPLETED | Sympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis |
| NCT01334333 | PHASE4 | COMPLETED | Comparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients |
| NCT01437943 | PHASE4 | TERMINATED | Effect of Short Term Aliskiren Treatment in Kidney Transplant Patients |
| NCT01545479 | PHASE4 | COMPLETED | Increased Renal Oxygenation and Angiotensin Converting Enzyme Inhibition |
| NCT01614431 | PHASE4 | COMPLETED | N Acetyl Cysteine for Cystinosis Patients |
| NCT01631149 | PHASE4 | COMPLETED | Effect of Deep BLock on Intraoperative Surgical Conditions |
| NCT01722513 | PHASE4 | UNKNOWN | Efficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy |
| NCT01985360 | PHASE4 | COMPLETED | ISCHEMIA-Chronic Kidney Disease Trial |
| NCT02311010 | PHASE4 | UNKNOWN | Practical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism |
| NCT02413073 | PHASE4 | COMPLETED | Whole Body Vibration in Kidney Disease |
| NCT02444013 | PHASE4 | UNKNOWN | Folic Acid for Prevention of Contrast Induced Nephropathy |
| NCT02663713 | PHASE4 | COMPLETED | A Randomized, Pharmacodynamic Comparison of Low Dose Ticagrelor to Clopidogrel in Patients With Prior Myocardial Infarction |
| NCT02707809 | PHASE4 | COMPLETED | Effects of Dexmedetomidine on Microcirculation of Kidney Transplant Recipient |
| NCT02761577 | PHASE4 | COMPLETED | A Prospective Study on Incidence and Prevention of Contrast-induced Nephropathy in Croatia |
| NCT03029351 | PHASE4 | TERMINATED | GLP-1 Receptor Agonist Therapy and Albuminuria in Patients With Type 2 Diabetes |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): age-related macular degeneration, atypical hemolytic-uremic syndrome, glaucoma, kidney disorder