TFIP11
gene geneOn this page
Also known as TIP39DKFZP434B194Spp382
Summary
TFIP11 (tuftelin interacting protein 11, HGNC:17165) is a protein-coding gene on chromosome 22q12.1, encoding Tuftelin-interacting protein 11 (Q9UBB9). Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. It is a common-essential gene (DepMap: required in 97.2% of cancer cell lines).
This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 24144 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 83 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 97.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_012143
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17165 |
| Approved symbol | TFIP11 |
| Name | tuftelin interacting protein 11 |
| Location | 22q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TIP39, DKFZP434B194, Spp382 |
| Ensembl gene | ENSG00000100109 |
| Ensembl biotype | protein_coding |
| OMIM | 612747 |
| Entrez | 24144 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 31 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000405938, ENST00000407148, ENST00000407431, ENST00000407690, ENST00000418876, ENST00000420242, ENST00000440258, ENST00000450493, ENST00000455080, ENST00000464449, ENST00000472918, ENST00000479489, ENST00000481357, ENST00000492137, ENST00000493698, ENST00000496523, ENST00000619735, ENST00000884979, ENST00000884980, ENST00000884981, ENST00000884982, ENST00000884983, ENST00000884984, ENST00000884985, ENST00000884986, ENST00000884987, ENST00000884988, ENST00000916794, ENST00000916795, ENST00000916796, ENST00000916797, ENST00000916798, ENST00000942802, ENST00000942803, ENST00000942804, ENST00000942805, ENST00000942806, ENST00000942807
RefSeq mRNA: 7 — MANE Select: NM_012143
NM_001008697, NM_001346857, NM_001346858, NM_001346859, NM_001346861, NM_001346862, NM_012143
CCDS: CCDS13838
Canonical transcript exons
ENST00000407690 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001550432 | 26510617 | 26510702 |
| ENSE00001561838 | 26512099 | 26512175 |
| ENSE00001651498 | 26494797 | 26494939 |
| ENSE00001697569 | 26496073 | 26496316 |
| ENSE00001712875 | 26494139 | 26494304 |
| ENSE00001739642 | 26506303 | 26506459 |
| ENSE00001779090 | 26496721 | 26496889 |
| ENSE00001787916 | 26498869 | 26498975 |
| ENSE00002203493 | 26499104 | 26499631 |
| ENSE00002278996 | 26506775 | 26506928 |
| ENSE00003527942 | 26501900 | 26502052 |
| ENSE00003593385 | 26503666 | 26503793 |
| ENSE00003661808 | 26510064 | 26510281 |
| ENSE00003843792 | 26491240 | 26492368 |
| ENSE00003847340 | 26512394 | 26512473 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 93.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5476 / max 183.1792, expressed in 1814 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193426 | 17.4963 | 1814 |
| 193425 | 0.0514 | 20 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 93.41 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.20 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.47 | gold quality |
| muscle of leg | UBERON:0001383 | 91.36 | gold quality |
| apex of heart | UBERON:0002098 | 91.32 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.03 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.83 | gold quality |
| sural nerve | UBERON:0015488 | 90.80 | gold quality |
| left testis | UBERON:0004533 | 90.66 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.43 | gold quality |
| right testis | UBERON:0004534 | 90.07 | gold quality |
| blood | UBERON:0000178 | 90.03 | gold quality |
| testis | UBERON:0000473 | 89.73 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.70 | gold quality |
| tendon | UBERON:0000043 | 89.63 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.27 | gold quality |
| amniotic fluid | UBERON:0000173 | 89.14 | gold quality |
| muscle organ | UBERON:0001630 | 89.13 | gold quality |
| skin of leg | UBERON:0001511 | 88.85 | gold quality |
| ventricular zone | UBERON:0003053 | 88.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.66 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.61 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.48 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.34 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.26 | gold quality |
| body of pancreas | UBERON:0001150 | 88.14 | gold quality |
| spleen | UBERON:0002106 | 88.02 | gold quality |
| cortical plate | UBERON:0005343 | 87.89 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 87.80 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.01 |
| E-MTAB-6142 | no | 173.21 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 9)
- TFIP11 is a novel splicing factor and transfected TFIP11-GFP fusion protein was found to locate in a novel subnuclear TFIP body. (PMID:15868102)
- These data help define the mechanism of nuclear/nuclear speckle localization of the splicing factor TFIP11, with implications for it’s function. (PMID:19857462)
- Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample. (PMID:23790503)
- the statistically significant association of rs2337359 upstream of TUFT1 with dental caries experience via meta-analysis across adult samples (p < 0.002) and the suggestive association for multiple variants in TFIP11 across child samples (PMID:25373699)
- Results suggest that Sip1/tuftelin-interacting protein (STIP, also referred to as TFIP11) may be a novel potential diagnostic and therapeutic target for non-small cell lung cancer (NSCLC). (PMID:26354852)
- We now report the identification of a novel molecular function of STIP that links USP7 to the p53-Mdm2 pathway (PMID:26460617)
- the high expression and activation effect on the ERK1/2 signaling of STIP in lymphoblastic leukemia suggest that STIP would be a potential therapy target or diagnosis marker for leukemia. (PMID:27758712)
- DHX15-independent roles for TFIP11 in U6 snRNA modification, U4/U6.U5 tri-snRNP assembly and pre-mRNA splicing fidelity. (PMID:34789764)
- TFIP11 promotes replication fork reversal to preserve genome stability. (PMID:38341452)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tfip11 | ENSDARG00000056932 |
| mus_musculus | Tfip11 | ENSMUSG00000029345 |
| rattus_norvegicus | Tfip11 | ENSRNOG00000000663 |
| drosophila_melanogaster | sip1 | FBGN0024191 |
| caenorhabditis_elegans | WBGENE00007412 |
Paralogs (2): ZGPAT (ENSG00000197114), LIME1 (ENSG00000203896)
Protein
Protein identifiers
Tuftelin-interacting protein 11 — Q9UBB9 (reviewed: Q9UBB9)
Alternative names: Septin and tuftelin-interacting protein 1
All UniProt accessions (6): Q9UBB9, F6SQZ1, F6UKU9, F6UQ07, F6XM96, H0Y4U8
UniProt curated annotations — full annotation on UniProt →
Function. Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix.
Subunit / interactions. Identified in the spliceosome C complex. Found in the Intron Large (IL) complex, a post-mRNA release spliceosomal complex containing the excised intron, U2, U5 and U6 snRNPs, and splicing factors. Interacts with TUFT1. Interacts with DHX15; indicative for a recruitment of DHX15 to the IL complex. Interacts with GCFC2.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the TFP11/STIP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UBB9-1 | 1 | yes |
| Q9UBB9-2 | 2 |
RefSeq proteins (7): NP_001008697, NP_001333786, NP_001333787, NP_001333788, NP_001333790, NP_001333791, NP_036275* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000467 | G_patch_dom | Domain |
| IPR022159 | STIP/TFIP11_N | Domain |
| IPR022783 | GCFC_dom | Domain |
| IPR024933 | TFP11 | Family |
| IPR045211 | TFP11/STIP/Ntr1 | Family |
Pfam: PF01585, PF07842, PF12457
UniProt features (22 total): region of interest 6, compositionally biased region 5, modified residue 5, splice variant 2, chain 1, domain 1, sequence variant 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8RO2 | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UBB9-F1 | 74.68 | 0.36 |
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 (5): 2, 59, 98, 144, 210
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 156 (showing top):
GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_CHROMOSOME_ORGANIZATION, GOBP_TELOMERE_CAPPING, GOBP_NEGATIVE_REGULATION_OF_DNA_REPAIR, GOBP_TELOMERE_ORGANIZATION, MEF2_02, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, OCT1_03, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, BACH2_01, GOBP_REGULATION_OF_RESPONSE_TO_STRESS
GO Biological Process (9): spliceosomal complex disassembly (GO:0000390), mRNA splicing, via spliceosome (GO:0000398), RNA processing (GO:0006396), biomineral tissue development (GO:0031214), negative regulation of protein-containing complex assembly (GO:0031333), protection from non-homologous end joining at telomere (GO:0031848), negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (2): nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (10): chromosome, telomeric region (GO:0000781), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), nucleolus (GO:0005730), cytoplasm (GO:0005737), nuclear speck (GO:0016607), extracellular matrix (GO:0031012), U2-type post-mRNA release spliceosomal complex (GO:0071008), catalytic step 2 spliceosome (GO:0071013), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| mRNA splicing, via spliceosome | 1 |
| protein-RNA complex disassembly | 1 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| tissue development | 1 |
| animal organ development | 1 |
| regulation of protein-containing complex assembly | 1 |
| negative regulation of cellular component organization | 1 |
| protein-containing complex assembly | 1 |
| telomere capping | 1 |
| telomere maintenance in response to DNA damage | 1 |
| double-strand break repair via nonhomologous end joining | 1 |
| negative regulation of double-strand break repair | 1 |
| regulation of double-strand break repair via nonhomologous end joining | 1 |
| mRNA metabolic process | 1 |
| chromosomal region | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
| external encapsulating structure | 1 |
| U2-type spliceosomal complex | 1 |
| U6 snRNP | 1 |
| post-mRNA release spliceosomal complex | 1 |
| Prp19 complex | 1 |
| spliceosomal complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2666 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TFIP11 | DHX15 | O43143 | 994 |
| TFIP11 | TUFT1 | Q9NNX1 | 979 |
| TFIP11 | NTSR2 | O95665 | 958 |
| TFIP11 | CWC25 | Q9NXE8 | 724 |
| TFIP11 | SLU7 | O95391 | 708 |
| TFIP11 | SRSF2 | Q01130 | 688 |
| TFIP11 | AMBN | Q9NP70 | 668 |
| TFIP11 | ENAM | Q9NRM1 | 666 |
| TFIP11 | EFTUD2 | Q15029 | 654 |
| TFIP11 | GPATCH2 | Q9NW75 | 653 |
| TFIP11 | GCFC2 | P16383 | 650 |
| TFIP11 | DHX8 | Q14562 | 616 |
| TFIP11 | SNRPA1 | P09661 | 612 |
| TFIP11 | SF3A1 | Q15459 | 602 |
| TFIP11 | DHX38 | Q92620 | 596 |
IntAct
1061 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TFIP11 | PRPF31 | psi-mi:“MI:0915”(physical association) | 0.890 |
| PRPF31 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.890 |
| COQ8A | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.850 |
| TFIP11 | COQ8A | psi-mi:“MI:0915”(physical association) | 0.850 |
| FAM161A | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.840 |
| SNW1 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.830 |
| PBX4 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.830 |
| TFIP11 | SNW1 | psi-mi:“MI:0915”(physical association) | 0.830 |
| TFIP11 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.830 |
| TFIP11 | ZGPAT | psi-mi:“MI:0915”(physical association) | 0.810 |
| TFIP11 | KRT6A | psi-mi:“MI:0915”(physical association) | 0.790 |
| CCHCR1 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.790 |
| TSHZ3 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | LMO1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | KRT20 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | TXLNA | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | GEM | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCDC121 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SMARCE1 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | BMF | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | THAP7 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | CCDC68 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TFIP11 | SH2D4A | psi-mi:“MI:0915”(physical association) | 0.780 |
BioGRID (583): TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid), TFIP11 (Two-hybrid)
ESM2 similar proteins: A0JMA8, A1XD93, A1XD94, A1XD95, A1XD97, A4UMC5, A4UMC6, B3DJT0, B5DFC8, E7EXT2, E7F187, F1M3L7, F7AEX0, O14617, O54774, P52590, P53569, P57740, P78344, P79398, Q06AK6, Q0IIX9, Q12929, Q17784, Q17CQ8, Q29RR5, Q2KI89, Q5R4H4, Q5R5K8, Q5R629, Q5R7J9, Q5TYV4, Q5U2Y6, Q5ZII9, Q62448, Q66J74, Q6DI35, Q865S1, Q8BH74, Q8IQ05
Diamond homologs: A1XD93, A1XD94, A1XD95, A1XD97, A4UMC5, A4UMC6, A7SBN6, B3MPC0, B3N8L3, B4G7U3, B4HWD7, B4JCG4, B4KH32, B4M9F7, B4NYQ2, B4Q8A7, C0HAV3, C5IJB0, P10265, P63119, P63121, P63123, P63124, P63125, P63129, P63131, P70501, P98175, Q06411, Q06AK6, Q0IIX9, Q17784, Q17CQ8, Q17QX2, Q28H71, Q29NF3, Q29RR5, Q5PPF5, Q5R5K8, Q5U2Y6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1378 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:26491541:T:A | acceptor_gain | 1.0000 |
| 22:26492367:ACC:A | acceptor_loss | 1.0000 |
| 22:26492368:CCTA:C | acceptor_loss | 1.0000 |
| 22:26492369:CTAAG:C | acceptor_loss | 1.0000 |
| 22:26494135:TTA:T | donor_loss | 1.0000 |
| 22:26494136:TA:T | donor_loss | 1.0000 |
| 22:26494136:TACCA:T | donor_gain | 1.0000 |
| 22:26494137:A:AC | donor_gain | 1.0000 |
| 22:26494137:A:C | donor_loss | 1.0000 |
| 22:26494137:ACCAA:A | donor_gain | 1.0000 |
| 22:26494138:C:CC | donor_gain | 1.0000 |
| 22:26494138:CCA:C | donor_gain | 1.0000 |
| 22:26494138:CCAA:C | donor_gain | 1.0000 |
| 22:26494138:CCAAC:C | donor_gain | 1.0000 |
| 22:26494300:AGCAC:A | acceptor_gain | 1.0000 |
| 22:26494302:CAC:C | acceptor_gain | 1.0000 |
| 22:26494303:ACCT:A | acceptor_loss | 1.0000 |
| 22:26494305:C:CC | acceptor_gain | 1.0000 |
| 22:26494306:T:C | acceptor_loss | 1.0000 |
| 22:26496067:CCTTA:C | donor_loss | 1.0000 |
| 22:26496068:CTTA:C | donor_loss | 1.0000 |
| 22:26496069:TTA:T | donor_loss | 1.0000 |
| 22:26496070:TACCC:T | donor_loss | 1.0000 |
| 22:26496071:A:C | donor_loss | 1.0000 |
| 22:26496071:AC:A | donor_gain | 1.0000 |
| 22:26496072:C:CA | donor_loss | 1.0000 |
| 22:26496072:CC:C | donor_gain | 1.0000 |
| 22:26496072:CCCAG:C | donor_gain | 1.0000 |
| 22:26496076:G:C | donor_gain | 1.0000 |
| 22:26496108:T:TA | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000030080 (22:26512433 C>A), RS1000265701 (22:26501371 A>C), RS1000331793 (22:26506954 C>A,T), RS1000429304 (22:26500915 G>A,T), RS1000461734 (22:26501128 G>A,C), RS1000597978 (22:26502699 C>G), RS1000667492 (22:26496374 C>G), RS1000709359 (22:26495679 T>C), RS1000798365 (22:26502522 G>A), RS1000827551 (22:26509356 C>A), RS1001048350 (22:26497122 C>G,T), RS1001757909 (22:26506607 G>A), RS1002085444 (22:26501561 T>C,G), RS1002090257 (22:26507911 G>A), RS1002458879 (22:26493045 A>G)
Disease associations
OMIM: gene MIM:612747 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724604 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.17 | Kd | 67 | nM | MOLIBRESIB |
| 7.10 | IC50 | 80 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179092: Binding affinity against TFIP11 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0670 | uM |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, increases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| sodium arsenite | increases expression | 1 |
| tobacco tar | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| cupric oxide | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| M-VAC protocol | decreases response to substance | 1 |
| beta-methylcholine | affects expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Rotenone | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697127 | Binding | Inhibition of TFIP11 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.