KANK4
gene geneOn this page
Also known as KIAA0172
Summary
KANK4 (KN motif and ankyrin repeat domains 4, HGNC:27263) is a protein-coding gene on chromosome 1p31.3, encoding KN motif and ankyrin repeat domain-containing protein 4 (Q5T7N3). May be involved in the control of cytoskeleton formation by regulating actin polymerization.
Predicted to be involved in negative regulation of actin filament polymerization. Located in cytosol and microtubule cytoskeleton.
Source: NCBI Gene 163782 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nephrotic syndrome (Moderate, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 419 total
- MANE Select transcript:
NM_181712
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27263 |
| Approved symbol | KANK4 |
| Name | KN motif and ankyrin repeat domains 4 |
| Location | 1p31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0172 |
| Ensembl gene | ENSG00000132854 |
| Ensembl biotype | protein_coding |
| OMIM | 614612 |
| Entrez | 163782 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000317477, ENST00000354381, ENST00000371150, ENST00000371153, ENST00000880983, ENST00000880984, ENST00000880985, ENST00000880986, ENST00000911278, ENST00000959619
RefSeq mRNA: 2 — MANE Select: NM_181712
NM_001320269, NM_181712
CCDS: CCDS620, CCDS81334
Canonical transcript exons
ENST00000371153 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001348606 | 62247472 | 62247672 |
| ENSE00001418170 | 62319106 | 62319434 |
| ENSE00001421106 | 62281549 | 62281634 |
| ENSE00001424755 | 62273204 | 62275087 |
| ENSE00001615716 | 62266732 | 62266819 |
| ENSE00001663340 | 62263092 | 62263311 |
| ENSE00001783576 | 62271478 | 62271589 |
| ENSE00001801128 | 62268287 | 62268505 |
| ENSE00003680432 | 62253067 | 62253209 |
| ENSE00003847626 | 62236165 | 62238381 |
Expression profiles
Bgee: expression breadth ubiquitous, 198 present calls, max score 98.20.
FANTOM5 (CAGE): breadth broad, TPM avg 1.6644 / max 157.5272, expressed in 426 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12627 | 0.8594 | 306 |
| 12624 | 0.4215 | 153 |
| 12625 | 0.2061 | 90 |
| 12626 | 0.1594 | 72 |
| 12623 | 0.0181 | 5 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trigeminal ganglion | UBERON:0001675 | 98.20 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.90 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.93 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.84 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 93.58 | gold quality |
| sural nerve | UBERON:0015488 | 92.32 | gold quality |
| pons | UBERON:0000988 | 92.14 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.73 | gold quality |
| parotid gland | UBERON:0001831 | 88.86 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 88.20 | gold quality |
| medulla oblongata | UBERON:0001896 | 88.09 | gold quality |
| tibial nerve | UBERON:0001323 | 87.10 | gold quality |
| placenta | UBERON:0001987 | 85.53 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.26 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 84.30 | gold quality |
| body of pancreas | UBERON:0001150 | 82.13 | gold quality |
| midbrain | UBERON:0001891 | 81.64 | gold quality |
| ventral tegmental area | UBERON:0002691 | 81.45 | gold quality |
| substantia nigra | UBERON:0002038 | 80.93 | gold quality |
| spinal cord | UBERON:0002240 | 80.07 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 79.37 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.22 | gold quality |
| pylorus | UBERON:0001166 | 76.81 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 76.07 | gold quality |
| pancreas | UBERON:0001264 | 76.02 | gold quality |
| globus pallidus | UBERON:0001875 | 75.70 | gold quality |
| medial globus pallidus | UBERON:0002477 | 75.48 | gold quality |
| mammary gland | UBERON:0001911 | 75.24 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 75.17 | gold quality |
| endothelial cell | CL:0000115 | 74.27 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
84 targeting KANK4, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
Literature-anchored findings (GeneRIF, showing 4)
- identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome. (PMID:25961457)
- biomarkers suitable for the assessment of chronological ageing were identified, and extrapolated to the context of photo-damaged skin. In particular, KANK4, ACAN, Col XI alpha1, and PSG1, were expressed at an increased level in both chronologically-aged and photo-damaged skin. (PMID:29913199)
- DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion. (PMID:38211648)
- Exclusive expression of KANK4 promotes myofibroblast mobility in keloid tissues. (PMID:38622256)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kank4 | ENSDARG00000059473 |
| mus_musculus | Kank4 | ENSMUSG00000035407 |
| rattus_norvegicus | Kank4 | ENSRNOG00000007779 |
| drosophila_melanogaster | Kank | FBGN0027596 |
| caenorhabditis_elegans | WBGENE00006882 |
Paralogs (3): KANK1 (ENSG00000107104), KANK3 (ENSG00000186994), KANK2 (ENSG00000197256)
Protein
Protein identifiers
KN motif and ankyrin repeat domain-containing protein 4 — Q5T7N3 (reviewed: Q5T7N3)
Alternative names: Ankyrin repeat domain-containing protein 38
All UniProt accessions (3): B1ALP5, B1ALP6, Q5T7N3
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the control of cytoskeleton formation by regulating actin polymerization.
Subcellular location. Cytoplasm.
Tissue specificity. Strongly expressed in colon, liver, lung, skeletal muscle and kidney.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T7N3-1 | 1 | yes |
| Q5T7N3-2 | 2 |
RefSeq proteins (2): NP_001307198, NP_859063* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR021939 | KN_motif | Conserved_site |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR047184 | KANK1-4 | Family |
Pfam: PF12075, PF12796
UniProt features (31 total): region of interest 7, sequence variant 7, compositionally biased region 6, repeat 5, splice variant 2, sequence conflict 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T7N3-F1 | 57.17 | 0.23 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 97 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, AAGCAAT_MIR137, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, MAZ_Q6, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_ACTIN_FILAMENT_ORGANIZATION, ACATTCC_MIR1_MIR206
GO Biological Process (1): negative regulation of actin filament polymerization (GO:0030837)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), microtubule cytoskeleton (GO:0015630)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| actin filament polymerization | 1 |
| regulation of actin filament polymerization | 1 |
| negative regulation of protein polymerization | 1 |
| negative regulation of cytoskeleton organization | 1 |
| negative regulation of supramolecular fiber organization | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1128 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KANK4 | AGBL1 | Q96MI9 | 708 |
| KANK4 | LOXHD1 | Q8IVV2 | 648 |
| KANK4 | SLC4A11 | Q8NBS3 | 570 |
| KANK4 | LAMC1 | P11047 | 516 |
| KANK4 | KANK2 | Q63ZY3 | 503 |
| KANK4 | KANK1 | Q14678 | 488 |
| KANK4 | SYNPO | Q8N3V7 | 484 |
| KANK4 | ATP1B1 | P05026 | 468 |
| KANK4 | COL8A2 | P25067 | 460 |
| KANK4 | CFDP1 | Q9UEE9 | 459 |
| KANK4 | PATJ | Q8NI35 | 449 |
| KANK4 | EMP2 | P54851 | 438 |
| KANK4 | ARHGAP24 | Q8N264 | 419 |
| KANK4 | RHOA | P06749 | 411 |
| KANK4 | INF2 | Q27J81 | 404 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KANK4 | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.640 |
| KANK4 | TRAPPC10 | psi-mi:“MI:0914”(association) | 0.640 |
| KANK4 | CUL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KANK4 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HAT1 | KANK4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KANK4 | MYLIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAPPC6A | KANK4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSK | KANK4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KANK4 | PKM | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| KANK4 | psi-mi:“MI:0914”(association) | 0.350 | |
| NOL8 | URB1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL5 | KANK4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HOMER3 | KANK4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HAT1 | KANK4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYLIP | KANK4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CSK | KANK4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TRAPPC6A | KANK4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (36): TLN2 (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), OSCP1 (Affinity Capture-MS), TLN1 (Affinity Capture-MS), TRAPPC10 (Affinity Capture-MS), TRAPPC4 (Affinity Capture-MS), TRAPPC2 (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC5 (Affinity Capture-MS), PDCD2L (Affinity Capture-MS), TRIM11 (Affinity Capture-MS), KANK4 (Affinity Capture-RNA), KANK4 (Two-hybrid)
ESM2 similar proteins: A0A0U1RQ45, A0A1B0GWB2, A2A9T0, A6QPA0, A7MCY6, D3ZFB6, E9PUL5, E9Q0B3, F5GYI3, F5H4A9, J3QNX5, O70142, P0C1G7, P81408, P97764, P98077, Q148V8, Q15654, Q2KI80, Q3SX26, Q3SZL6, Q4V9L6, Q5FVJ4, Q5FW56, Q5RAC1, Q5T7N3, Q6DG50, Q6PAJ3, Q6PJ61, Q6ZMQ8, Q6ZNR0, Q6ZRV2, Q75VX8, Q7Z6L0, Q86UK7, Q86VE0, Q8BGW2, Q8BRJ3, Q8BX43, Q8C0R7
Diamond homologs: D3ZD05, E9Q238, Q14678, Q1LZH7, Q5T7N3, Q63ZY3, Q6NY19, Q6P9J5, Q8BX02, Q9Z1P7, X1WE18, P93002, Q68DC2, A2AS55, Q04861, Q499M5, Q641X1, Q9Z2F6, O35516, Q04721, Q337A0, Q61982, Q9QW30, Q9R172, Q9UM47, A0A0R4IQZ2, A6NCL7, A6NGH8, O83515, P0C0T2, P13508, P20749, P53356, Q18297, Q21920, Q3U0L2, Q4FE45, Q4JHE0, Q810B6, Q9CQM6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
419 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 248 |
| Likely benign | 88 |
| Benign | 55 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2454 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:62247467:CTCA:C | donor_loss | 1.0000 |
| 1:62247469:CACCT:C | donor_loss | 1.0000 |
| 1:62247470:A:C | donor_loss | 1.0000 |
| 1:62247471:C:CG | donor_loss | 1.0000 |
| 1:62253062:CCCA:C | donor_loss | 1.0000 |
| 1:62253064:CA:C | donor_loss | 1.0000 |
| 1:62253066:CCTGA:C | donor_loss | 1.0000 |
| 1:62268329:T:A | donor_gain | 1.0000 |
| 1:62268501:CATAC:C | acceptor_gain | 1.0000 |
| 1:62268502:ATAC:A | acceptor_gain | 1.0000 |
| 1:62268503:TAC:T | acceptor_gain | 1.0000 |
| 1:62268507:T:G | acceptor_loss | 1.0000 |
| 1:62281548:CCAT:C | donor_gain | 1.0000 |
| 1:62238497:T:TA | donor_gain | 0.9900 |
| 1:62247470:A:AC | donor_gain | 0.9900 |
| 1:62247471:C:CC | donor_gain | 0.9900 |
| 1:62247668:CCTCC:C | acceptor_gain | 0.9900 |
| 1:62247669:CTCC:C | acceptor_gain | 0.9900 |
| 1:62247669:CTCCC:C | acceptor_gain | 0.9900 |
| 1:62247670:TCCCT:T | acceptor_gain | 0.9900 |
| 1:62247671:CC:C | acceptor_gain | 0.9900 |
| 1:62247672:CC:C | acceptor_gain | 0.9900 |
| 1:62247673:C:CC | acceptor_gain | 0.9900 |
| 1:62247673:C:G | acceptor_loss | 0.9900 |
| 1:62247676:CA:C | acceptor_gain | 0.9900 |
| 1:62247677:A:C | acceptor_gain | 0.9900 |
| 1:62253207:CGC:C | acceptor_gain | 0.9900 |
| 1:62253209:CCTGC:C | acceptor_loss | 0.9900 |
| 1:62253210:C:A | acceptor_loss | 0.9900 |
| 1:62253210:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
6498 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:62263281:A:G | W784R | 0.999 |
| 1:62263281:A:T | W784R | 0.999 |
| 1:62271495:A:C | F665L | 0.999 |
| 1:62271495:A:T | F665L | 0.999 |
| 1:62271497:A:G | F665L | 0.999 |
| 1:62273395:A:G | L570P | 0.999 |
| 1:62274987:G:C | F39L | 0.999 |
| 1:62274987:G:T | F39L | 0.999 |
| 1:62274988:A:C | F39C | 0.999 |
| 1:62274988:A:G | F39S | 0.999 |
| 1:62274989:A:G | F39L | 0.999 |
| 1:62275000:A:G | L35S | 0.999 |
| 1:62275005:A:C | F33L | 0.999 |
| 1:62275005:A:T | F33L | 0.999 |
| 1:62275007:A:G | F33L | 0.999 |
| 1:62263138:G:C | S831R | 0.998 |
| 1:62263138:G:T | S831R | 0.998 |
| 1:62263140:T:G | S831R | 0.998 |
| 1:62271496:A:G | F665S | 0.998 |
| 1:62274985:A:G | L40P | 0.998 |
| 1:62271496:A:C | F665C | 0.997 |
| 1:62273296:A:G | L603P | 0.997 |
| 1:62273392:A:G | L571P | 0.997 |
| 1:62274994:A:G | L37P | 0.997 |
| 1:62275006:A:G | F33S | 0.997 |
| 1:62253184:G:C | N855K | 0.996 |
| 1:62253184:G:T | N855K | 0.996 |
| 1:62274980:A:G | Y42H | 0.996 |
| 1:62263151:G:T | A827D | 0.995 |
| 1:62263279:C:A | W784C | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000025060 (1:62288305 G>A,T), RS1000088070 (1:62308182 A>T), RS1000095722 (1:62259582 T>G), RS1000308234 (1:62310679 C>A,T), RS1000309367 (1:62275450 A>C), RS1000359700 (1:62245333 T>C), RS1000387759 (1:62262463 A>C), RS1000458800 (1:62288967 C>A), RS1000493792 (1:62262627 A>G), RS1000531269 (1:62259473 C>T), RS1000544028 (1:62254717 C>A,T), RS1000610825 (1:62299067 A>T), RS1000661170 (1:62296799 C>A,T), RS1000698450 (1:62316606 G>T), RS1000718225 (1:62241843 A>G)
Disease associations
OMIM: gene MIM:614612 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nephrotic syndrome | Moderate | Autosomal recessive |
Mondo (1): nephrotic syndrome (MONDO:0005377)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004217_1 | Fuchs’s corneal dystrophy | 1.000000e-14 |
| GCST006920_5 | Regular attendance at a gym or sports club | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009592 | social interaction measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009404 | Nephrotic Syndrome | C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 5 |
| Aflatoxin B1 | decreases expression, increases methylation | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | increases abundance, increases expression, affects expression | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | affects expression, decreases methylation | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression | 2 |
| propionaldehyde | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Azathioprine | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Cytarabine | decreases expression | 1 |
| Diethylnitrosamine | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
Clinical trials (associated diseases)
104 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00308321 | PHASE4 | UNKNOWN | Long Term Tapering or Standard Steroids for Nephrotic Syndrome |
| NCT01021540 | PHASE4 | COMPLETED | Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes |
| NCT01028287 | PHASE4 | COMPLETED | Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN) |
| NCT01162005 | PHASE4 | COMPLETED | Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children |
| NCT01895894 | PHASE4 | COMPLETED | Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome |
| NCT02238418 | PHASE4 | COMPLETED | Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. |
| NCT02382575 | PHASE4 | UNKNOWN | Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome |
| NCT02427880 | PHASE4 | COMPLETED | Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema |
| NCT03210688 | PHASE4 | COMPLETED | Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy |
| NCT03347357 | PHASE4 | COMPLETED | Pharmacokinetics of Tacrolimus in Children |
| NCT05696977 | PHASE4 | UNKNOWN | Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients |
| NCT05966818 | PHASE4 | UNKNOWN | Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome. |
| NCT06026787 | PHASE4 | COMPLETED | Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome |
| NCT00354731 | PHASE3 | COMPLETED | Efficacy of Pentoxifylline on Primary Nephrotic Syndrome |
| NCT00615667 | PHASE3 | COMPLETED | Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS) |
| NCT00981838 | PHASE3 | COMPLETED | Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS) |
| NCT01197040 | PHASE3 | COMPLETED | Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome |
| NCT01309477 | PHASE3 | COMPLETED | The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) |
| NCT02132195 | PHASE3 | COMPLETED | Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome |
| NCT02257697 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome |
| NCT02438982 | PHASE3 | COMPLETED | Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome |
| NCT03141970 | PHASE3 | COMPLETED | Prednisolone Trial in Children Younger Than 4 Years |
| NCT03501459 | PHASE3 | UNKNOWN | Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome |
| NCT05079789 | PHASE3 | TERMINATED | Amiloride in Nephrotic Syndrome |
| NCT05716880 | PHASE3 | RECRUITING | Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome |
| NCT06635720 | PHASE3 | ACTIVE_NOT_RECRUITING | REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE) |
| NCT00001212 | PHASE2 | COMPLETED | Drug Therapy in Lupus Nephropathy |
| NCT00001959 | PHASE2 | COMPLETED | Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis) |
| NCT00004466 | PHASE2 | TERMINATED | Pilot Study of Atorvastatin in Children With Chronic Hyperlipidemia Secondary to Nephrotic Syndrome |
| NCT00004990 | PHASE2 | COMPLETED | Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis |
| NCT00977977 | PHASE2 | RECRUITING | Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy |
| NCT02394106 | PHASE2 | TERMINATED | Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome |
| NCT02394119 | PHASE2 | COMPLETED | Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome |
| NCT02592798 | PHASE2 | COMPLETED | Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD) |
| NCT02966717 | PHASE2 | UNKNOWN | Rituximab Combined With MSCs in the Treatment of PNS (3-4 Stage of CKD) |
| NCT03004001 | PHASE2 | TERMINATED | Effect of PCSK9-Antibody (Alirocumab) on Dyslipidemia Secondary to Nephrotic Syndrome |
| NCT03949855 | PHASE2 | RECRUITING | Belimumab With Rituximab for Primary Membranous Nephropathy |
| NCT05599815 | PHASE2 | WITHDRAWN | Part 1 - A Clinical Trial in Patients With Frequently Relapsing and Steroid-Dependent Nephrotic Syndrome |
| NCT05704400 | PHASE2 | UNKNOWN | Efficacy of Anti-CD20 Ab Associated With Anti-CD38 in the Childhood Multidrug Dependent and Resistant Nephrotic Syndrome |
| NCT06983028 | PHASE2 | RECRUITING | Atacicept in Multiple Glomerular Diseases |
Related Atlas pages
- Associated diseases: nephrotic syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): nephrotic syndrome