ARL11
gene geneOn this page
Also known as ARLTS1FLJ33930
Summary
ARL11 (ARF like GTPase 11, HGNC:24046) is a protein-coding gene on chromosome 13q14.2, encoding ADP-ribosylation factor-like protein 11 (Q969Q4). May play a role in apoptosis.
This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers.
Source: NCBI Gene 115761 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hereditary neoplastic syndrome (Limited, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 51 total — 3 pathogenic
- MANE Select transcript:
NM_138450
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24046 |
| Approved symbol | ARL11 |
| Name | ARF like GTPase 11 |
| Location | 13q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARLTS1, FLJ33930 |
| Ensembl gene | ENSG00000152213 |
| Ensembl biotype | protein_coding |
| OMIM | 609351 |
| Entrez | 115761 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000282026, ENST00000490932, ENST00000920918, ENST00000958145
RefSeq mRNA: 1 — MANE Select: NM_138450
NM_138450
CCDS: CCDS9419
Canonical transcript exons
ENST00000282026 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003994298 | 49630430 | 49633872 |
| ENSE00003994313 | 49628507 | 49628615 |
Expression profiles
Bgee: expression breadth ubiquitous, 169 present calls, max score 92.01.
FANTOM5 (CAGE): breadth broad, TPM avg 3.2941 / max 120.0873, expressed in 404 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135126 | 3.0760 | 399 |
| 135127 | 0.2181 | 116 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 92.01 | gold quality |
| leukocyte | CL:0000738 | 91.58 | gold quality |
| blood | UBERON:0000178 | 89.89 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.47 | silver quality |
| granulocyte | CL:0000094 | 84.02 | gold quality |
| bone marrow | UBERON:0002371 | 81.53 | gold quality |
| thymus | UBERON:0002370 | 81.02 | gold quality |
| lymph node | UBERON:0000029 | 76.05 | gold quality |
| spleen | UBERON:0002106 | 75.96 | gold quality |
| vermiform appendix | UBERON:0001154 | 74.53 | gold quality |
| bone marrow cell | CL:0002092 | 71.50 | gold quality |
| lower lobe of lung | UBERON:0008949 | 69.23 | gold quality |
| caecum | UBERON:0001153 | 68.02 | gold quality |
| oral cavity | UBERON:0000167 | 67.66 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 67.56 | gold quality |
| right lung | UBERON:0002167 | 67.01 | gold quality |
| rectum | UBERON:0001052 | 66.26 | gold quality |
| superficial temporal artery | UBERON:0001614 | 64.50 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 64.35 | gold quality |
| jejunal mucosa | UBERON:0000399 | 64.25 | silver quality |
| gall bladder | UBERON:0002110 | 64.16 | gold quality |
| upper lobe of lung | UBERON:0008948 | 63.40 | gold quality |
| lung | UBERON:0002048 | 63.18 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 63.13 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 62.72 | gold quality |
| small intestine | UBERON:0002108 | 61.85 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 61.67 | gold quality |
| esophagus mucosa | UBERON:0002469 | 61.60 | gold quality |
| amniotic fluid | UBERON:0000173 | 61.37 | gold quality |
| tonsil | UBERON:0002372 | 60.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
88 targeting ARL11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| 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-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
Literature-anchored findings (GeneRIF, showing 15)
- A genetic variant of ARLTS1 predisposes patients to familial cancer. (PMID:15843669)
- the G446A in ARLTS1 gene is probably not associated with an increased risk of sporadic breast cancer, prostate cancer, melanoma, thyroid papillary cancer or laryngeal cancer (PMID:16570116)
- The study does not support the postulate that variants of ARLTS1 influence the risk of chronic lymphocytic leukemia(CLL). (PMID:16581122)
- While ARLTS1 Trp149Stop did not influence melanoma risk (OR = 0.83, 95% CI = 0.37-1.88, p = 0.65), Cys148Arg revealed a statistically significant association with an increased risk for heterozygous carriers (OR = 1.43, 95% CI = 1.05-1.95, p = 0.02) (PMID:16646072)
- we found no association of ARLTS1 polymorphisms and risk for familial chronic lymphocytic leukaemia (PMID:17391501)
- Cysteine148Arginine variant is associated with a moderately increased risk of colorectal cancer, both in sporadic and familial cases. (PMID:17449901)
- 650 transcripts expressed after restoration of ARLTS1 expression were identified in A549 cells, suggesting that pathways involved in cell survival, proliferation, signaling, and development mediate the effects of wild-type ARLTS1 in lung cancer. (PMID:17699778)
- ARLTS1 germline variants are not associated with breast, prostate, and colorectal cancer (PMID:18337727)
- A novel tumor suppressor gene [ARLTS1 (ADP-ribosylation factor-like tumor suppressor gene 1)]is found to be altered in human carcinogenesis. It is located in Chromosome 13q14.3. (PMID:18375053)
- Data show a significantly increased risk of familial OC for ARLTS1 Cys148Arg variant, which indicate that ARLTS1 may play a role in familial ovarian cancer. (PMID:19509554)
- A significantly increased risk was observed for young ovarian cancer patients with ARLTS1 Cys148Arg variant. (PMID:20067102)
- The role of the allelic variants in ARLTS1, RAD51 and MDM2 acting in the tumor suppressor, DNA repair and p53 pathways as risk factors for familial breast cancer in 147 patients displaying characteristics of familial disease, was investigated. (PMID:20358297)
- the important role of ARLTS1 Cys148Arg variant as a contributor in prostate cancer predisposition (PMID:22028916)
- A statistically significant (p = 0.0037) decrease of ARLTS1 expression in prostate cancer cases was detected. (PMID:23940804)
- ARLTS1 gene mutations can be considered as a potential predisposing factor in familial hematological malignancies (PMID:27866680)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Arl11 | ENSMUSG00000043157 |
| rattus_norvegicus | Arl11 | ENSRNOG00000014653 |
Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
ADP-ribosylation factor-like protein 11 — Q969Q4 (reviewed: Q969Q4)
Alternative names: ADP-ribosylation factor-like tumor suppressor protein 1
All UniProt accessions (1): Q969Q4
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in apoptosis. May act as a tumor suppressor.
Tissue specificity. Expressed in lung and leukocytes.
Disease relevance. Leukemia, chronic lymphocytic (CLL) [MIM:151400] A chronic leukemia in which functionally incompetent B-lymphocytes progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Similarity. Belongs to the small GTPase superfamily. Arf family.
RefSeq proteins (1): NP_612459* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005225 | Small_GTP-bd | Domain |
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR024156 | Small_GTPase_ARF | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00025
UniProt features (11 total): sequence variant 5, binding site 3, initiator methionine 1, chain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969Q4-F1 | 87.94 | 0.77 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 19–26; 63–67; 122–125
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 65 (showing top):
GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, chr13q14, MARSON_BOUND_BY_FOXP3_STIMULATED, GOMF_GTPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, YOSHIMURA_MAPK8_TARGETS_UP, CHEN_METABOLIC_SYNDROM_NETWORK, CHYLA_CBFA2T3_TARGETS_UP, GOBP_INTRACELLULAR_TRANSPORT, ZNF768_TARGET_GENES, MIR4795_3P, MIR126_5P
GO Biological Process (3): hematopoietic progenitor cell differentiation (GO:0002244), intracellular protein transport (GO:0006886), vesicle-mediated transport (GO:0016192)
GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), plasma membrane (GO:0005886)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hemopoiesis | 1 |
| cell differentiation | 1 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| cellular process | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1829 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL11 | P2RX7 | Q99572 | 697 |
| ARL11 | HIF1AN | Q9NWT6 | 589 |
| ARL11 | ARL16 | Q0P5N6 | 540 |
| ARL11 | CDADC1 | Q9BWV3 | 476 |
| ARL11 | ZAP70 | P43403 | 476 |
| ARL11 | BRCA2 | P51587 | 460 |
| ARL11 | RCBTB1 | Q8NDN9 | 452 |
| ARL11 | CD5 | P06127 | 436 |
| ARL11 | EBPL | Q9BY08 | 419 |
| ARL11 | DOCK5 | Q9H7D0 | 415 |
| ARL11 | C17orf75 | Q9HAS0 | 410 |
| ARL11 | DCAF10 | Q5QP82 | 408 |
| ARL11 | ALDH3A2 | P51648 | 405 |
| ARL11 | CHEK2 | O96017 | 404 |
| ARL11 | PNPT1 | Q8TCS8 | 398 |
| ARL11 | ZNF714 | Q96N38 | 398 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIP13 | ARL11 | psi-mi:“MI:0915”(physical association) | 0.710 |
| ARL11 | TRIP13 | psi-mi:“MI:0915”(physical association) | 0.710 |
| ARL11 | SESTD1 | psi-mi:“MI:0914”(association) | 0.530 |
| JAK2 | ARL11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ARL11 | SMARCB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ARL11 | SELENBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDKN1B | YKT6 | psi-mi:“MI:0914”(association) | 0.350 |
| ARL11 | NMT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (51): ARL11 (Two-hybrid), SESTD1 (Affinity Capture-MS), MTMR8 (Affinity Capture-MS), SENP1 (Affinity Capture-MS), SELENBP1 (Affinity Capture-MS), ARL11 (Two-hybrid), ARL11 (Two-hybrid), SESTD1 (Affinity Capture-MS), MTMR8 (Affinity Capture-MS), SENP1 (Affinity Capture-MS), ARL11 (Affinity Capture-MS), DDX19B (Affinity Capture-MS), NMT2 (Affinity Capture-MS), LLGL1 (Affinity Capture-MS), TSEN2 (Affinity Capture-MS)
ESM2 similar proteins: A1E2I4, A7VK00, B0BMZ3, E9PW74, F4HT21, G3MZQ6, G3X987, O81025, P0DJR0, P18588, P18589, P18590, P36406, P36407, P52333, P54120, P97343, Q2EMV9, Q4ADG7, Q4KLG2, Q501S4, Q5RCY1, Q62137, Q63272, Q63285, Q75N62, Q8BGX0, Q8BV66, Q8K3K9, Q8K3L6, Q8ND71, Q8NHV1, Q8TAS1, Q969Q4, Q99JY3, Q9BDB7, Q9BW83, Q9C8U2, Q9C8U5, Q9C8U6
Diamond homologs: A1CRG9, A1D4D1, A3LTA2, A8INQ0, A8ISN6, B5FYQ0, H2L0N8, O04266, O04267, O04834, O08697, O45379, P0C950, P0C951, P0CM16, P0CM17, P0CR30, P0CR31, P20606, P22274, P25160, P36404, P36405, P36536, P37996, P49703, P52885, P56559, P61208, Q01474, Q01475, Q02804, Q06849, Q09767, Q0CUN7, Q0VC18, Q10943, Q13795, Q19705, Q1MTE5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 147435 | GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1 | Pathogenic |
| 443381 | GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1 | Pathogenic |
| 545122 | NC_000013.11:g.46968080_87381985del40413906 | Pathogenic |
SpliceAI
178 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:49628613:GAG:G | donor_gain | 0.9900 |
| 13:49628613:GAGG:G | donor_loss | 0.9800 |
| 13:49628614:AGGT:A | donor_loss | 0.9800 |
| 13:49628615:GGT:G | donor_loss | 0.9800 |
| 13:49628617:T:A | donor_loss | 0.9700 |
| 13:49628613:G:GT | donor_gain | 0.9600 |
| 13:49628616:G:GG | donor_gain | 0.9600 |
| 13:49630424:CCCTA:C | acceptor_loss | 0.9300 |
| 13:49630425:CCTA:C | acceptor_loss | 0.9300 |
| 13:49630427:TA:T | acceptor_loss | 0.9300 |
| 13:49630428:A:AC | acceptor_loss | 0.9300 |
| 13:49630428:AG:A | acceptor_gain | 0.9100 |
| 13:49630429:GG:G | acceptor_gain | 0.9100 |
| 13:49628472:G:GT | donor_gain | 0.9000 |
| 13:49630428:A:AG | acceptor_gain | 0.9000 |
| 13:49630429:G:GG | acceptor_gain | 0.9000 |
| 13:49628611:CAGAG:C | donor_gain | 0.8400 |
| 13:49630427:TAGGA:T | acceptor_gain | 0.8400 |
| 13:49630115:C:G | donor_gain | 0.8300 |
| 13:49628604:A:AG | donor_gain | 0.8200 |
| 13:49628605:G:GG | donor_gain | 0.8200 |
| 13:49628612:AGAG:A | donor_gain | 0.7700 |
| 13:49628608:A:AG | donor_gain | 0.7600 |
| 13:49630820:G:GT | donor_gain | 0.7200 |
| 13:49628582:G:GT | donor_gain | 0.7100 |
| 13:49628614:AG:A | donor_gain | 0.7000 |
| 13:49628615:GG:G | donor_gain | 0.7000 |
| 13:49630429:GGA:G | acceptor_gain | 0.7000 |
| 13:49630861:GC:G | donor_gain | 0.6700 |
| 13:49630413:T:A | acceptor_loss | 0.6400 |
AlphaMissense
1263 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:49630524:C:T | T26I | 0.991 |
| 13:49630583:T:C | F46L | 0.990 |
| 13:49630585:C:A | F46L | 0.990 |
| 13:49630585:C:G | F46L | 0.990 |
| 13:49630522:G:C | K25N | 0.988 |
| 13:49630522:G:T | K25N | 0.988 |
| 13:49630816:G:C | K123N | 0.987 |
| 13:49630816:G:T | K123N | 0.987 |
| 13:49630520:A:C | K25Q | 0.984 |
| 13:49630521:A:C | K25T | 0.984 |
| 13:49630635:A:C | D63A | 0.982 |
| 13:49630521:A:T | K25M | 0.981 |
| 13:49630815:A:C | K123T | 0.981 |
| 13:49630634:G:C | D63H | 0.978 |
| 13:49630520:A:G | K25E | 0.977 |
| 13:49630635:A:G | D63G | 0.977 |
| 13:49630715:A:C | S90R | 0.977 |
| 13:49630717:C:A | S90R | 0.977 |
| 13:49630717:C:G | S90R | 0.977 |
| 13:49630815:A:T | K123M | 0.970 |
| 13:49630635:A:T | D63V | 0.969 |
| 13:49630660:A:C | R71S | 0.969 |
| 13:49630660:A:T | R71S | 0.969 |
| 13:49630636:C:A | D63E | 0.967 |
| 13:49630636:C:G | D63E | 0.967 |
| 13:49630669:G:C | W74C | 0.967 |
| 13:49630669:G:T | W74C | 0.967 |
| 13:49630502:G:C | G19R | 0.966 |
| 13:49630813:C:A | N122K | 0.966 |
| 13:49630813:C:G | N122K | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000262385 (13:49628502 G>T), RS1000647150 (13:49628732 C>T), RS1000761441 (13:49628482 AAGG>A), RS1001383569 (13:49627119 C>G), RS1002677055 (13:49626795 T>C,G), RS1002862583 (13:49627285 G>A), RS1003043769 (13:49632921 C>G,T), RS1003067862 (13:49632513 G>T), RS1003091813 (13:49629872 A>G), RS1004147630 (13:49631474 T>G), RS1004498019 (13:49631735 G>A), RS1004615876 (13:49629053 C>T), RS1005229904 (13:49628241 G>A,C), RS1006220844 (13:49626535 A>C), RS1006230791 (13:49626983 T>C)
Disease associations
OMIM: gene MIM:609351 | disease phenotypes: MIM:613884
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hereditary neoplastic syndrome | Limited | Autosomal dominant |
Mondo (2): chromosome 13q14 deletion syndrome (MONDO:0013481), hereditary neoplastic syndrome (MONDO:0015356)
Orphanet (1): Monosomy 13q14 syndrome (Orphanet:1587)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001860_4 | Multiple sclerosis | 3.000000e-07 |
| GCST010002_186 | Refractive error | 1.000000e-36 |
| GCST011096_30 | Systemic lupus erythematosus | 4.000000e-08 |
| GCST90011866_19 | Systemic lupus erythematosus | 1.000000e-06 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009386 | Neoplastic Syndromes, Hereditary | C04.700; C16.320.700 |
| C535484 | 13q deletion syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| clothianidin | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Silicon Dioxide | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
29 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00001496 | Not specified | COMPLETED | Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast Cancer |
| NCT00001898 | Not specified | COMPLETED | Microarray Analysis for Human Genetic Disease |
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Related Atlas pages
- Associated diseases: hereditary neoplastic syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chromosome 13q14 deletion syndrome, hereditary neoplastic syndrome