CFHR2
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Also known as FHR2
Summary
CFHR2 (complement factor H related 2, HGNC:4890) is a protein-coding gene on chromosome 1q31.3, encoding Complement factor H-related protein 2 (P36980). Involved in complement regulation.
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.
Source: NCBI Gene 3080 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 80 total
- MANE Select transcript:
NM_005666
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4890 |
| Approved symbol | CFHR2 |
| Name | complement factor H related 2 |
| Location | 1q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FHR2 |
| Ensembl gene | ENSG00000080910 |
| Ensembl biotype | protein_coding |
| OMIM | 600889 |
| Entrez | 3080 |
Gene structure
Transcript identifiers
Ensembl transcripts: 54 — 51 protein_coding, 3 retained_intron
ENST00000367415, ENST00000367421, ENST00000473386, ENST00000476712, ENST00000485647, ENST00000489703, ENST00000496448, ENST00000647617, ENST00000649283, ENST00000649960, ENST00000699921, ENST00000699922, ENST00000884517, ENST00000884518, ENST00000884519, ENST00000884520, ENST00000884521, ENST00000884522, ENST00000884523, ENST00000884524, ENST00000884525, ENST00000884526, ENST00000884527, ENST00000884528, ENST00000884529, ENST00000884530, ENST00000884531, ENST00000884532, ENST00000884533, ENST00000884534, ENST00000884535, ENST00000884536, ENST00000884537, ENST00000884538, ENST00000884539, ENST00000884540, ENST00000884541, ENST00000884542, ENST00000884543, ENST00000884544, ENST00000884545, ENST00000884546, ENST00000884547, ENST00000884548, ENST00000884549, ENST00000884550, ENST00000884551, ENST00000884552, ENST00000884553, ENST00000884554, ENST00000884555, ENST00000884556, ENST00000884557, ENST00000884558
RefSeq mRNA: 3 — MANE Select: NM_005666
NM_001312672, NM_001410924, NM_005666
CCDS: CCDS30959, CCDS91135, CCDS91136
Canonical transcript exons
ENST00000367415 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001920108 | 196943738 | 196943938 |
| ENSE00003745979 | 196949455 | 196949649 |
| ENSE00003831930 | 196950852 | 196951028 |
| ENSE00003836915 | 196957891 | 196958073 |
| ENSE00003843688 | 196958881 | 196959622 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 99.48.
Top tissues by expression
235 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.48 | gold quality |
| liver | UBERON:0002107 | 98.69 | gold quality |
| parietal pleura | UBERON:0002400 | 82.83 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 82.71 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 81.88 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 80.92 | silver quality |
| pleura | UBERON:0000977 | 80.73 | silver quality |
| upper arm skin | UBERON:0004263 | 80.50 | silver quality |
| buccal mucosa cell | CL:0002336 | 79.06 | silver quality |
| diaphragm | UBERON:0001103 | 78.49 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.98 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.50 | silver quality |
| visceral pleura | UBERON:0002401 | 76.39 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 76.33 | silver quality |
| decidua | UBERON:0002450 | 76.00 | silver quality |
| choroid plexus epithelium | UBERON:0003911 | 74.23 | silver quality |
| mucosa of urinary bladder | UBERON:0001259 | 72.78 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 72.22 | silver quality |
| cartilage tissue | UBERON:0002418 | 71.69 | silver quality |
| tibialis anterior | UBERON:0001385 | 70.87 | silver quality |
| layer of synovial tissue | UBERON:0007616 | 70.74 | silver quality |
| tendon of biceps brachii | UBERON:0008188 | 70.71 | silver quality |
| mammary duct | UBERON:0001765 | 70.65 | silver quality |
| epithelium of mammary gland | UBERON:0003244 | 70.10 | silver quality |
| deltoid | UBERON:0001476 | 69.99 | silver quality |
| endothelial cell | CL:0000115 | 69.93 | silver quality |
| lower lobe of lung | UBERON:0008949 | 69.72 | gold quality |
| seminal vesicle | UBERON:0000998 | 68.56 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 67.96 | silver quality |
| mammalian vulva | UBERON:0000997 | 67.41 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10553 | yes | 34.83 |
| E-MTAB-6386 | no | 2.01 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting CFHR2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-633 | 98.35 | 69.45 | 1167 |
Literature-anchored findings (GeneRIF, showing 7)
- Thus CFHR2 likely acts in concert with factor H, as CFHR2 inhibits convertases while simultaneously allowing factor H assisted degradation by factor I. (PMID:24260121)
- Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. (PMID:24333077)
- A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay. (PMID:24334459)
- 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. [CFHR2] (PMID:27196323)
- Studies indicate an association between CFHR2-rs2986127 and acute anterior uveitis (AAU) diagnosis. (PMID:27306586)
- Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration. (PMID:34260947)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cfhr1 | ENSMUSG00000057037 |
| rattus_norvegicus | Cfhr1 | ENSRNOG00000042901 |
Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), 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), CFHR4 (ENSG00000134365), 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 2 — P36980 (reviewed: P36980)
Alternative names: DDESK59, H factor-like 3, H factor-like protein 2
All UniProt accessions (9): P36980, A0A3B3IQ51, A0A3B3IRW0, A0A3B3IS00, A0A3B3IS28, A0A3B3ISW6, A0A8V8TPL2, A0A8V8TQS1, V9GYE7
UniProt curated annotations — full annotation on UniProt →
Function. Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.
Subunit / interactions. Head-to-tail homodimer and heterodimer with CFHR1 or CFHR5.
Subcellular location. Secreted.
Tissue specificity. Expressed by the liver and secreted in plasma.
Post-translational modifications. N-glycosylated.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P36980-1 | Long | yes |
| P36980-2 | Short, Truncated |
RefSeq proteins (3): NP_001299601, NP_001397853, NP_005657* (*=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 (29 total): strand 10, disulfide bond 8, domain 4, signal peptide 1, chain 1, splice variant 1, sequence conflict 1, helix 1, turn 1, glycosylation site 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3ZD1 | X-RAY DIFFRACTION | 2 |
| 5EA0 | X-RAY DIFFRACTION | 2 |
| 9N1Z | X-RAY DIFFRACTION | 2.31 |
| 9N20 | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P36980-F1 | 90.90 | 0.80 |
Antibody-complex structures (SAbDab): 1 — 5EA0
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 (8): 114–140, 149–192, 178–203, 207–257, 241–267, 23–72, 55–83, 87–129
Glycosylation sites (1): 126
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-977606 | Regulation of Complement cascade |
MSigDB gene sets: 88 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_PROTEIN_BINDING, COUP_01, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_BINDING, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_COMPLEMENT_ACTIVATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, BLALOCK_ALZHEIMERS_DISEASE_UP, HSIAO_LIVER_SPECIFIC_GENES, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_HUMORAL_IMMUNE_RESPONSE, AACTTT_UNKNOWN, GOBP_IMMUNE_EFFECTOR_PROCESS, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_SYMBIONT
GO Biological Process (3): complement activation (GO:0006956), negative regulation of protein binding (GO:0032091), obsolete cytolysis by host of symbiont cells (GO:0051838)
GO Molecular Function (3): complement component C3b binding (GO:0001851), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), protein-containing complex (GO:0032991)
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 |
|---|---|
| protein binding | 2 |
| immune effector process | 1 |
| activation of immune response | 1 |
| humoral immune response | 1 |
| protein activation cascade | 1 |
| regulation of protein binding | 1 |
| negative regulation of binding | 1 |
| opsonin binding | 1 |
| complement binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
384 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CFHR2 | C3 | P01024 | 847 |
| CFHR2 | MYBPH | Q13203 | 724 |
| CFHR2 | C4BPB | P20851 | 716 |
| CFHR2 | RBMS2 | Q15434 | 685 |
| CFHR2 | CFP | P27918 | 639 |
| CFHR2 | DGKE | P52429 | 633 |
| CFHR2 | CFB | P00751 | 621 |
| CFHR2 | CD55 | P08174 | 608 |
| CFHR2 | CD46 | P15529 | 594 |
| CFHR2 | C4A | P01028 | 594 |
| CFHR2 | C4A | P01028 | 593 |
| CFHR2 | MMACHC | Q9Y4U1 | 579 |
| CFHR2 | CD59 | P13987 | 577 |
| CFHR2 | RAPGEF1 | Q13905 | 572 |
| CFHR2 | CNDP2 | Q96KP4 | 547 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFHR1 | CFHR2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CFHR1 | CFHR2 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| CFHR2 | CFHR1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CFHR2 | CFHR2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| CFHR2 | CFHR2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| C3 | CFHR2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (3): CFHR1 (Affinity Capture-MS), CFHR1 (Affinity Capture-MS), APP (Reconstituted Complex)
ESM2 similar proteins: O02839, O08569, O19124, O62685, O62837, O88174, P02749, P04003, P05160, P06909, P08174, P08603, P08607, P15529, P16109, P17690, P19070, P20023, P26644, P33703, P36980, P42201, P49457, P70105, P79138, P98109, Q01339, Q02985, Q03472, Q03591, Q07968, Q22328, Q28065, Q28768, Q2VPA4, Q5R4D0, Q60401, Q60736, Q61475, Q61476
Diamond homologs: A0A182C2Z2, A0JNA2, B3EX01, E7FEC4, O08569, O19124, O57254, O62685, O62837, O88174, P08174, P0DTN2, P15529, P21115, P24083, P24084, P36980, P49457, P79138, P81475, Q01227, Q07968, Q28085, Q29RN8, Q4V9Z5, Q53EL9, Q5R4D0, Q5R8M2, Q5VX71, Q60736, Q63515, Q6AX42, Q6P1D5, Q6UXD5, Q7TSK2, Q7Z408, Q8BH32, Q9BYH1, Q9JF44, Q9W332
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 13 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
808 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:196950873:T:TA | acceptor_gain | 1.0000 |
| 1:196951029:G:GG | donor_gain | 1.0000 |
| 1:196957889:A:AG | acceptor_gain | 1.0000 |
| 1:196957890:G:GA | acceptor_gain | 1.0000 |
| 1:196957890:G:GC | acceptor_gain | 1.0000 |
| 1:196958071:TAGGT:T | donor_loss | 1.0000 |
| 1:196949454:GCAAT:G | acceptor_gain | 0.9900 |
| 1:196950874:G:A | acceptor_gain | 0.9900 |
| 1:196957890:GT:G | acceptor_gain | 0.9900 |
| 1:196957890:GTT:G | acceptor_gain | 0.9900 |
| 1:196957890:GTTT:G | acceptor_gain | 0.9900 |
| 1:196958069:CTTAG:C | donor_gain | 0.9900 |
| 1:196958070:TTAG:T | donor_gain | 0.9900 |
| 1:196958072:AG:A | donor_gain | 0.9900 |
| 1:196958072:AGGT:A | donor_loss | 0.9900 |
| 1:196958073:GG:G | donor_gain | 0.9900 |
| 1:196958074:G:GG | donor_gain | 0.9900 |
| 1:196958075:TAA:T | donor_loss | 0.9900 |
| 1:196958075:TAAG:T | donor_loss | 0.9900 |
| 1:196943935:GAAG:G | donor_gain | 0.9800 |
| 1:196943936:AAGG:A | donor_loss | 0.9800 |
| 1:196943938:GGTA:G | donor_loss | 0.9800 |
| 1:196943939:G:T | donor_loss | 0.9800 |
| 1:196943940:TAAG:T | donor_loss | 0.9800 |
| 1:196946760:G:GT | donor_gain | 0.9800 |
| 1:196951022:TCCAC:T | donor_gain | 0.9800 |
| 1:196951023:CCACT:C | donor_gain | 0.9800 |
| 1:196951026:CTA:C | donor_gain | 0.9800 |
| 1:196958071:TAG:T | donor_gain | 0.9800 |
| 1:196946761:A:T | donor_gain | 0.9700 |
AlphaMissense
1750 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:196958051:G:C | W197C | 0.996 |
| 1:196958051:G:T | W197C | 0.996 |
| 1:196951000:G:C | W134C | 0.994 |
| 1:196951000:G:T | W134C | 0.994 |
| 1:196949627:G:C | W77C | 0.990 |
| 1:196949627:G:T | W77C | 0.990 |
| 1:196958049:T:A | W197R | 0.989 |
| 1:196958049:T:C | W197R | 0.989 |
| 1:196950998:T:A | W134R | 0.985 |
| 1:196950998:T:C | W134R | 0.985 |
| 1:196958067:T:A | C203S | 0.984 |
| 1:196958068:G:C | C203S | 0.984 |
| 1:196957986:T:G | Y176D | 0.983 |
| 1:196957992:T:A | C178S | 0.982 |
| 1:196957993:G:C | C178S | 0.982 |
| 1:196949643:T:A | C83S | 0.980 |
| 1:196949644:G:C | C83S | 0.980 |
| 1:196949625:T:A | W77R | 0.977 |
| 1:196949625:T:C | W77R | 0.977 |
| 1:196950983:T:A | C129S | 0.975 |
| 1:196950984:G:C | C129S | 0.975 |
| 1:196950938:T:A | C114S | 0.974 |
| 1:196950939:G:C | C114S | 0.974 |
| 1:196951016:T:A | C140S | 0.974 |
| 1:196951017:G:C | C140S | 0.974 |
| 1:196958034:T:A | C192S | 0.974 |
| 1:196958035:G:C | C192S | 0.974 |
| 1:196958067:T:C | C203R | 0.974 |
| 1:196959036:T:A | C257S | 0.974 |
| 1:196959037:G:C | C257S | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000669367 (1:196947449 A>G), RS1000693047 (1:196952684 C>CA), RS1000728595 (1:196951693 C>A,T), RS1000738789 (1:196946508 T>G), RS1000760253 (1:196951924 C>G), RS1000949707 (1:196957708 G>A,C), RS1001384976 (1:196956792 G>T), RS1001605980 (1:196951444 A>T), RS1001751219 (1:196957004 C>T), RS1001809321 (1:196946904 TTG>T), RS1001935820 (1:196952733 A>T), RS1001980397 (1:196951617 T>C), RS1002069082 (1:196948068 ATTGT>A), RS1002135462 (1:196947078 A>G), RS1002418424 (1:196956906 T>A)
Disease associations
OMIM: gene MIM:600889 | disease phenotypes: MIM:614809
GenCC curated gene-disease
Mondo (4): atypical hemolytic-uremic syndrome (MONDO:0016244), C3 glomerulonephritis (MONDO:0013892), kidney disorder (MONDO:0005240), complement 3 glomerulopathy (MONDO:0018013)
Orphanet (3): Atypical hemolytic uremic syndrome (Orphanet:2134), C3 glomerulonephritis (Orphanet:329931), C3 glomerulopathy (Orphanet:329918)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001899_1 | Age-related macular degeneration | 1.000000e-16 |
| GCST004250_7 | Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL) | 9.000000e-06 |
| GCST005212_15 | Asthma | 9.000000e-06 |
| GCST006943_63 | Feeling miserable | 4.000000e-08 |
| GCST90019043_1 | Complement factor H-related protein 2 levels | 2.000000e-29 |
| GCST90019043_2 | Complement factor H-related protein 2 levels | 5.000000e-19 |
| GCST90019043_3 | Complement factor H-related protein 2 levels | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007965 | response to combination chemotherapy |
| EFO:0009598 | feeling miserable measurement |
| EFO:0600055 | complement factor H-related protein 2 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)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| methyleugenol | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| chromium hexavalent ion | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Endosulfan | decreases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Zinc | decreases expression | 1 |
| Antirheumatic Agents | 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 |
|---|---|---|---|
| NCT02574403 | PHASE4 | COMPLETED | Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS |
| NCT07308574 | PHASE4 | RECRUITING | Post-Marketing Clinical Study of Ravulizumab in Participants With Clinical aHUS |
| 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 |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atypical hemolytic-uremic syndrome, C3 glomerulonephritis, complement 3 glomerulopathy, glaucoma, kidney disorder