TFPT
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Also known as FB1amidaINO80F
Summary
TFPT (TCF3 fusion partner, HGNC:13630) is a protein-coding gene on chromosome 19q13.42, encoding TCF3 fusion partner (P0C1Z6). Appears to promote apoptosis in a p53/TP53-independent manner.
Predicted to enable DNA binding activity. Involved in several processes, including apoptotic signaling pathway; chromatin remodeling; and regulation of nucleobase-containing compound metabolic process. Located in nucleoplasm. Part of Ino80 complex.
Source: NCBI Gene 29844 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 62 total
- MANE Select transcript:
NM_013342
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13630 |
| Approved symbol | TFPT |
| Name | TCF3 fusion partner |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FB1, amida, INO80F |
| Ensembl gene | ENSG00000105619 |
| Ensembl biotype | protein_coding |
| OMIM | 609519 |
| Entrez | 29844 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay
ENST00000391757, ENST00000391758, ENST00000391759, ENST00000420715, ENST00000911296, ENST00000911297
RefSeq mRNA: 2 — MANE Select: NM_013342
NM_001321792, NM_013342
CCDS: CCDS12878, CCDS82396
Canonical transcript exons
ENST00000391759 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000856131 | 54110051 | 54110121 |
| ENSE00001509669 | 54115247 | 54115657 |
| ENSE00003558994 | 54108026 | 54108244 |
| ENSE00003595137 | 54114442 | 54114700 |
| ENSE00003614840 | 54107020 | 54107169 |
| ENSE00003623636 | 54108326 | 54108395 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 96.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3944 / max 129.3115, expressed in 1796 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182590 | 6.0280 | 1736 |
| 182589 | 4.0708 | 1639 |
| 182588 | 2.2957 | 1143 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amygdala | UBERON:0001876 | 96.24 | gold quality |
| temporal lobe | UBERON:0001871 | 96.21 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.82 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.72 | gold quality |
| Ammon’s horn | UBERON:0001954 | 95.23 | gold quality |
| frontal cortex | UBERON:0001870 | 95.11 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.01 | gold quality |
| cerebral cortex | UBERON:0000956 | 94.85 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.74 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.39 | gold quality |
| substantia nigra | UBERON:0002038 | 93.96 | gold quality |
| putamen | UBERON:0001874 | 93.40 | gold quality |
| hypothalamus | UBERON:0001898 | 93.36 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.85 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.48 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.29 | gold quality |
| brain | UBERON:0000955 | 92.17 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.32 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.34 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.49 | gold quality |
| granulocyte | CL:0000094 | 89.26 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.86 | gold quality |
| apex of heart | UBERON:0002098 | 88.77 | gold quality |
| cerebellum | UBERON:0002037 | 88.72 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.71 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.67 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.48 | gold quality |
| prostate gland | UBERON:0002367 | 88.17 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.38 | gold quality |
| spleen | UBERON:0002106 | 86.88 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.32 |
| E-GEOD-75367 | no | 50.34 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| EAF1 | Unknown |
| EAF2 | Repression |
Upstream regulators (CollecTRI, top): TCF3
Literature-anchored findings (GeneRIF, showing 4)
- Although p53 is a main regulator of apoptosis in mammalian cells, the Tfpt induced apoptosis appears p53-independent. (PMID:17041757)
- FB1 is an important binding partner and a functional regulator of U19/EAF2, EAF1, and/or ELL. (PMID:17395368)
- Characterization of the core promoters controlling the expression of PRPF31 and TFPT, a bi-directional gene-pair. (PMID:22723017)
- TCF3/E2A is Conserved Specific Coregulators of the p21:PUMA Expression Ratio. (PMID:23684607)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tfpt | ENSMUSG00000006335 |
| rattus_norvegicus | Tfpt | ENSRNOG00000056098 |
Protein
Protein identifiers
TCF3 fusion partner — P0C1Z6 (reviewed: P0C1Z6)
Alternative names: INO80 complex subunit F, Protein FB1
All UniProt accessions (3): P0C1Z6, A8MTQ3, F8WDC1
UniProt curated annotations — full annotation on UniProt →
Function. Appears to promote apoptosis in a p53/TP53-independent manner. Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
Subunit / interactions. Interacts with NOL3; translocates NOL3 into the nucleus and negatively regulated TFPT-induced cell death. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the N-terminus of INO80.
Subcellular location. Nucleus.
Disease relevance. A chromosomal aberration involving TFPT is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Inversion inv(19)(p13;q13) with TCF3.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P0C1Z6-1 | 1 | yes |
| P0C1Z6-2 | 2 |
RefSeq proteins (2): NP_001308721, NP_037474* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR033555 | TFPT | Family |
| IPR056513 | INO80F | Domain |
Pfam: PF24245
UniProt features (14 total): modified residue 7, region of interest 3, chain 1, cross-link 1, splice variant 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0C1Z6-F1 | 67.81 | 0.30 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (8): 249, 252, 216, 167, 172, 180, 188, 207
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689603 | UCH proteinases |
| R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5688426 | Deubiquitination |
| R-HSA-5696398 | Nucleotide Excision Repair |
| R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-73894 | DNA Repair |
MSigDB gene sets: 160 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, RRAGTTGT_UNKNOWN, GOZGIT_ESR1_TARGETS_DN, GOBP_TELOMERE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_APOPTOTIC_SIGNALING_PATHWAY, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_STRAND_ELONGATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_DNA_REPAIR, LIAO_METASTASIS
GO Biological Process (17): telomere maintenance (GO:0000723), regulation of DNA replication (GO:0006275), DNA repair (GO:0006281), regulation of DNA repair (GO:0006282), DNA recombination (GO:0006310), chromatin remodeling (GO:0006338), regulation of chromosome organization (GO:0033044), positive regulation of apoptotic process (GO:0043065), positive regulation of DNA repair (GO:0045739), positive regulation of DNA-templated transcription (GO:0045893), regulation of embryonic development (GO:0045995), regulation of cell cycle (GO:0051726), regulation of DNA strand elongation (GO:0060382), apoptotic signaling pathway (GO:0097190), positive regulation of telomere maintenance in response to DNA damage (GO:1904507), apoptotic process (GO:0006915), DNA damage response (GO:0006974)
GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Ino80 complex (GO:0031011)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
| Global Genome Nucleotide Excision Repair (GG-NER) | 1 |
| Post-translational protein modification | 1 |
| DNA Repair | 1 |
| Nucleotide Excision Repair | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 3 |
| regulation of DNA metabolic process | 3 |
| DNA repair | 2 |
| apoptotic process | 2 |
| positive regulation of response to stimulus | 2 |
| cellular anatomical structure | 2 |
| telomere organization | 1 |
| DNA replication | 1 |
| DNA damage response | 1 |
| regulation of cellular response to stress | 1 |
| chromatin organization | 1 |
| regulation of organelle organization | 1 |
| chromosome organization | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| regulation of DNA repair | 1 |
| positive regulation of DNA metabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| embryo development | 1 |
| regulation of multicellular organismal development | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| DNA strand elongation | 1 |
| signal transduction | 1 |
| positive regulation of telomere maintenance | 1 |
| telomere maintenance in response to DNA damage | 1 |
| regulation of telomere maintenance in response to DNA damage | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cellular response to stress | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nuclear chromosome | 1 |
| INO80-type complex | 1 |
Protein interactions and networks
STRING
1252 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TFPT | PRPF31 | Q8WWY3 | 839 |
| TFPT | TCF3 | P15883 | 823 |
| TFPT | INO80E | Q8NBZ0 | 783 |
| TFPT | HLF | Q16534 | 698 |
| TFPT | NFRKB | Q6P4R8 | 617 |
| TFPT | NDUFA3 | O95167 | 603 |
| TFPT | SRPX2 | O60687 | 590 |
| TFPT | PBX1 | P40424 | 574 |
| TFPT | TLE2 | Q04725 | 559 |
| TFPT | TLE6 | Q9H808 | 549 |
| TFPT | A0A087WTN9 | A0A087WTN9 | 549 |
| TFPT | IKZF1 | Q13422 | 546 |
| TFPT | CCNDBP1 | O95273 | 532 |
| TFPT | BTBD19 | C9JJ37 | 527 |
| TFPT | LENG1 | Q96BZ8 | 504 |
IntAct
153 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RUVBL1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.860 |
| TFPT | TPM3 | psi-mi:“MI:0915”(physical association) | 0.850 |
| TPM3 | TFPT | psi-mi:“MI:0915”(physical association) | 0.850 |
| UCHL5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.840 |
| YY1 | ACTL6A | psi-mi:“MI:0914”(association) | 0.830 |
| CCNDBP1 | RPLP0 | psi-mi:“MI:0914”(association) | 0.800 |
| INO80E | TFPT | psi-mi:“MI:0914”(association) | 0.790 |
| TFPT | UCHL5 | psi-mi:“MI:0915”(physical association) | 0.770 |
| TFPT | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CCNDBP1 | TFPT | psi-mi:“MI:0915”(physical association) | 0.740 |
| YY1 | TFPT | psi-mi:“MI:0914”(association) | 0.740 |
| RUVBL2 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL1 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| LRRC46 | TFPT | psi-mi:“MI:0914”(association) | 0.640 |
| INO80E | ACTL6A | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (234): TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), CDCA7L (Two-hybrid), RPGRIP1 (Two-hybrid), HAUS1 (Two-hybrid), DYDC1 (Two-hybrid)
ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2
Diamond homologs: P0C1Z6, Q17QH7, Q3U1J1, Q9JMG6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TFPT | “form complex” | “INO80 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 95 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 7 | 51.6× | 6e-09 |
| DNA Damage Recognition in GG-NER | 8 | 36.8× | 6e-09 |
| Nucleotide Excision Repair | 7 | 32.2× | 2e-07 |
| UCH proteinases | 11 | 22.0× | 7e-10 |
| Deubiquitination | 7 | 14.0× | 5e-05 |
| DNA Repair | 7 | 11.1× | 2e-04 |
| HATs acetylate histones | 8 | 10.2× | 6e-05 |
| Chromatin organization | 6 | 7.9× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of telomere maintenance in response to DNA damage | 10 | 135.4× | 7e-18 |
| regulation of DNA strand elongation | 10 | 126.9× | 1e-17 |
| regulation of chromosome organization | 10 | 112.8× | 4e-17 |
| regulation of embryonic development | 12 | 47.8× | 2e-15 |
| positive regulation of DNA repair | 11 | 47.5× | 3e-14 |
| regulation of DNA replication | 10 | 44.1× | 1e-12 |
| regulation of DNA repair | 11 | 36.6× | 6e-13 |
| DNA recombination | 9 | 36.5× | 1e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1268 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:54107169:TC:T | acceptor_loss | 1.0000 |
| 19:54107170:C:CA | acceptor_loss | 1.0000 |
| 19:54107170:C:CC | acceptor_gain | 1.0000 |
| 19:54108321:CTCA:C | donor_loss | 1.0000 |
| 19:54108322:TCAC:T | donor_loss | 1.0000 |
| 19:54108323:CA:C | donor_loss | 1.0000 |
| 19:54108324:ACCT:A | donor_gain | 1.0000 |
| 19:54108325:CCTC:C | donor_gain | 1.0000 |
| 19:54110047:TTAC:T | donor_loss | 1.0000 |
| 19:54110048:TACC:T | donor_loss | 1.0000 |
| 19:54110049:A:AG | donor_loss | 1.0000 |
| 19:54110050:CC:C | donor_loss | 1.0000 |
| 19:54110052:T:TA | donor_gain | 1.0000 |
| 19:54110057:T:A | donor_gain | 1.0000 |
| 19:54110120:ACCT:A | acceptor_loss | 1.0000 |
| 19:54110121:CCTA:C | acceptor_loss | 1.0000 |
| 19:54110123:T:G | acceptor_loss | 1.0000 |
| 19:54114437:CCTA:C | donor_gain | 1.0000 |
| 19:54114438:CTA:C | donor_loss | 1.0000 |
| 19:54114439:TACCT:T | donor_loss | 1.0000 |
| 19:54114440:A:AG | donor_loss | 1.0000 |
| 19:54114441:CCTG:C | donor_gain | 1.0000 |
| 19:54107165:TTAAT:T | acceptor_gain | 0.9900 |
| 19:54107166:TAAT:T | acceptor_gain | 0.9900 |
| 19:54107168:AT:A | acceptor_gain | 0.9900 |
| 19:54107174:A:T | acceptor_gain | 0.9900 |
| 19:54108027:TGC:T | donor_gain | 0.9900 |
| 19:54108318:ACACT:A | donor_loss | 0.9900 |
| 19:54108319:CACTC:C | donor_loss | 0.9900 |
| 19:54108320:ACTCA:A | donor_loss | 0.9900 |
AlphaMissense
1602 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:54110099:C:A | R102M | 1.000 |
| 19:54114617:A:G | I36T | 1.000 |
| 19:54114617:A:T | I36N | 1.000 |
| 19:54114628:A:C | F32L | 1.000 |
| 19:54114628:A:T | F32L | 1.000 |
| 19:54114630:A:G | F32L | 1.000 |
| 19:54110098:C:A | R102S | 0.999 |
| 19:54110098:C:G | R102S | 0.999 |
| 19:54114614:A:G | L37P | 0.999 |
| 19:54114617:A:C | I36S | 0.999 |
| 19:54114629:A:C | F32C | 0.999 |
| 19:54114629:A:G | F32S | 0.999 |
| 19:54114630:A:T | F32I | 0.999 |
| 19:54114632:A:T | L31Q | 0.999 |
| 19:54114641:A:G | L28S | 0.999 |
| 19:54114670:G:C | F18L | 0.999 |
| 19:54114670:G:T | F18L | 0.999 |
| 19:54114672:A:G | F18L | 0.999 |
| 19:54110066:A:G | L113P | 0.998 |
| 19:54110096:A:G | L103P | 0.998 |
| 19:54110099:C:G | R102T | 0.998 |
| 19:54110116:G:C | N96K | 0.998 |
| 19:54110116:G:T | N96K | 0.998 |
| 19:54114481:C:A | K81N | 0.998 |
| 19:54114481:C:G | K81N | 0.998 |
| 19:54114614:A:T | L37Q | 0.998 |
| 19:54114630:A:C | F32V | 0.998 |
| 19:54114641:A:C | L28W | 0.998 |
| 19:54108378:A:G | L124P | 0.997 |
| 19:54108378:A:T | L124Q | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000143142 (19:54117637 A>T), RS1001396359 (19:54107967 C>T), RS1001444775 (19:54112675 G>C), RS1001495557 (19:54112448 G>A), RS1001832480 (19:54111186 G>A), RS1002504705 (19:54113638 C>T), RS1003596568 (19:54109009 C>G,T), RS1003835673 (19:54109070 T>G), RS1003853352 (19:54114362 G>A,T), RS1004137244 (19:54108776 T>C), RS1004393522 (19:54114122 G>A), RS1005123064 (19:54109180 G>A), RS1005601392 (19:54106912 C>T), RS1006129096 (19:54110454 C>T), RS1006153147 (19:54106703 C>A,T)
Disease associations
OMIM: gene MIM:609519 | disease phenotypes: MIM:600138, MIM:268000
GenCC curated gene-disease
Mondo (2): retinitis pigmentosa 11 (MONDO:0010828), retinitis pigmentosa (MONDO:0019200)
Orphanet (1): Retinitis pigmentosa (Orphanet:791)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_104 | Obesity-related traits | 8.000000e-06 |
| GCST001762_198 | Obesity-related traits | 3.000000e-06 |
| GCST001762_787 | Obesity-related traits | 8.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004338 | body weight |
| EFO:0005106 | body composition measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D012174 | Retinitis Pigmentosa | C11.270.684; C11.768.585.658.500; C16.320.290.684 |
| C563991 | Retinitis Pigmentosa 11 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sodium arsenite | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | increases expression | 1 |
| Quercetin | affects phosphorylation | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Palmitic Acid | decreases phosphorylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
237 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00717080 | PHASE4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT00000114 | PHASE3 | COMPLETED | Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa |
| NCT00000116 | PHASE3 | COMPLETED | Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A |
| NCT00346333 | PHASE3 | COMPLETED | Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A |
| NCT01786395 | PHASE3 | TERMINATED | Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa |
| NCT04224207 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells |
| NCT04636853 | PHASE3 | COMPLETED | CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration |
| NCT05537220 | PHASE3 | ACTIVE_NOT_RECRUITING | Oral N-acetylcysteine for Retinitis Pigmentosa |
| NCT05800301 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision |
| NCT05926583 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa |
| NCT06388200 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa |
| NCT07082855 | PHASE3 | NOT_YET_RECRUITING | A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa |
| NCT07290530 | PHASE3 | NOT_YET_RECRUITING | 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT00100230 | PHASE2 | COMPLETED | DHA and X-Linked Retinitis Pigmentosa |
| NCT00447980 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa |
| NCT00447993 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa |
| NCT01233609 | PHASE2 | COMPLETED | Trial of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01399515 | PHASE2 | COMPLETED | Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01530659 | PHASE2 | COMPLETED | Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa |
| NCT01560715 | PHASE2 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
| NCT02609165 | PHASE2 | COMPLETED | Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema |
| NCT02661711 | PHASE2 | COMPLETED | Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study |
| NCT02804360 | PHASE2 | UNKNOWN | Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study |
| NCT02837640 | PHASE2 | UNKNOWN | Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa |
| NCT03073733 | PHASE2 | COMPLETED | Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa |
| NCT04068207 | PHASE2 | COMPLETED | Minocycline Treatment in Retinitis Pigmentosa |
| NCT04356716 | PHASE2 | COMPLETED | Sildenafil for Treatment of Choroidal Ischemia |
| NCT04604899 | PHASE2 | COMPLETED | Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa |
| NCT04763369 | PHASE2 | UNKNOWN | Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP) |
| NCT04864496 | PHASE2 | UNKNOWN | Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa |
| NCT04945772 | PHASE2 | COMPLETED | Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] |
| NCT05085964 | PHASE2 | TERMINATED | An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa |
| NCT05392179 | PHASE2 | COMPLETED | A Study in Subjects With Retinitis Pigmentosa |
| NCT06627179 | PHASE2 | RECRUITING | Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene |
| NCT06628947 | PHASE2 | RECRUITING | A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa |
| NCT06912633 | PHASE2 | RECRUITING | Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP) |
| NCT05902962 | PHASE1 | COMPLETED | SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects |
| NCT06455826 | PHASE1 | COMPLETED | MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby) |
| NCT00063765 | PHASE1 | COMPLETED | Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye |
| NCT00065455 | PHASE1 | COMPLETED | Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): retinitis pigmentosa 11