ANO9
geneOn this page
Also known as PIG5
Summary
ANO9 (anoctamin 9, HGNC:20679) is a protein-coding gene on chromosome 11p15.5, encoding Anoctamin-9 (A1A5B4). PKA-activated nonselective cation channel.
The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers.
Source: NCBI Gene 338440 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 190 total — 4 pathogenic
- MANE Select transcript:
NM_001012302
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20679 |
| Approved symbol | ANO9 |
| Name | anoctamin 9 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PIG5 |
| Ensembl gene | ENSG00000185101 |
| Ensembl biotype | protein_coding |
| OMIM | 619963 |
| Entrez | 338440 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 13 protein_coding, 7 retained_intron
ENST00000332826, ENST00000524802, ENST00000525804, ENST00000525857, ENST00000526142, ENST00000528927, ENST00000532094, ENST00000534161, ENST00000884101, ENST00000884102, ENST00000884103, ENST00000884104, ENST00000884105, ENST00000884106, ENST00000884107, ENST00000884108, ENST00000884109, ENST00000884110, ENST00000884111, ENST00000924670
RefSeq mRNA: 2 — MANE Select: NM_001012302
NM_001012302, NM_001347882
CCDS: CCDS31326
Canonical transcript exons
ENST00000332826 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001433343 | 441921 | 442011 |
| ENSE00001492401 | 431694 | 431767 |
| ENSE00001492402 | 431848 | 431906 |
| ENSE00002182909 | 417938 | 418589 |
| ENSE00003469104 | 418720 | 418813 |
| ENSE00003475518 | 428475 | 428639 |
| ENSE00003492822 | 434024 | 434098 |
| ENSE00003512314 | 431999 | 432054 |
| ENSE00003539746 | 429570 | 429652 |
| ENSE00003558373 | 428088 | 428199 |
| ENSE00003583365 | 430269 | 430403 |
| ENSE00003606247 | 429758 | 429818 |
| ENSE00003615654 | 420945 | 421042 |
| ENSE00003625268 | 418888 | 418989 |
| ENSE00003638888 | 420718 | 420860 |
| ENSE00003655931 | 433314 | 433459 |
| ENSE00003660491 | 420463 | 420615 |
| ENSE00003664700 | 433815 | 433937 |
| ENSE00003665534 | 428722 | 428826 |
| ENSE00003667047 | 421141 | 421198 |
| ENSE00003679100 | 430083 | 430179 |
| ENSE00003680722 | 428358 | 428394 |
| ENSE00003681248 | 419582 | 419729 |
Expression profiles
Bgee: expression breadth ubiquitous, 184 present calls, max score 98.59.
FANTOM5 (CAGE): breadth broad, TPM avg 6.3251 / max 160.0535, expressed in 784 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117757 | 5.9819 | 780 |
| 117756 | 0.3432 | 177 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.59 | gold quality |
| upper arm skin | UBERON:0004263 | 96.69 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.63 | gold quality |
| skin of leg | UBERON:0001511 | 96.19 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.00 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.80 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.49 | gold quality |
| zone of skin | UBERON:0000014 | 94.21 | gold quality |
| small intestine | UBERON:0002108 | 92.99 | gold quality |
| granulocyte | CL:0000094 | 92.26 | gold quality |
| transverse colon | UBERON:0001157 | 91.49 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.43 | gold quality |
| duodenum | UBERON:0002114 | 90.09 | gold quality |
| body of pancreas | UBERON:0001150 | 90.08 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.00 | gold quality |
| lymph node | UBERON:0000029 | 89.87 | gold quality |
| spleen | UBERON:0002106 | 89.07 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.55 | gold quality |
| rectum | UBERON:0001052 | 88.34 | gold quality |
| right uterine tube | UBERON:0001302 | 88.08 | gold quality |
| jejunal mucosa | UBERON:0000399 | 87.44 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.33 | silver quality |
| body of stomach | UBERON:0001161 | 86.05 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.86 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.22 | gold quality |
| intestine | UBERON:0000160 | 83.95 | gold quality |
| minor salivary gland | UBERON:0001830 | 83.86 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 83.63 | gold quality |
| caecum | UBERON:0001153 | 83.35 | gold quality |
| colonic mucosa | UBERON:0000317 | 83.29 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting ANO9, 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-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-224-5P | 98.33 | 70.12 | 1256 |
| HSA-MIR-6787-3P | 97.75 | 66.17 | 1233 |
| HSA-MIR-6747-3P | 97.73 | 64.84 | 1596 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
| HSA-MIR-509-3-5P | 97.21 | 67.74 | 1517 |
| HSA-MIR-509-5P | 97.21 | 67.90 | 1512 |
| HSA-MIR-4418 | 97.04 | 67.16 | 1372 |
| HSA-MIR-500B-3P | 96.49 | 65.40 | 1087 |
| HSA-MIR-541-3P | 96.07 | 66.11 | 1271 |
| HSA-MIR-654-5P | 96.07 | 66.18 | 1280 |
| HSA-MIR-3937 | 87.69 | 61.61 | 103 |
| HSA-MIR-6789-3P | 83.91 | 59.77 | 58 |
Literature-anchored findings (GeneRIF, showing 7)
- These results demonstrate a strong association of single-nucleotide polymorphisms in the PKP3-SIGIRR-TMEM16J gene region and tuberculosis in discovery and validation cohorts. (PMID:22223854)
- Suggest role for up-regulation of ANO9 in progression and metastasis of stage II and III colorectal carcinoma. (PMID:26317553)
- Children with low 25-hydroxyvitamin D and TMEM16J rs7111432-AA or PKP3 rs10902158-GG polymorphisms were at increased risk for tuberculosis or death. (PMID:26872154)
- Our results showed that ANO9 is overexpressed in most pancreatic cancer cell lines tested and in B30% of tissue samples obtained from patients with pancreatic cancer. Moreover, high ANO9 expression was associated with increased proliferation of pancreatic cancer cells and poor survival in patients with pancreatic cancer. (PMID:29024940)
- ANO9 is a cation channel activated by a cAMP/PKA pathway and could play a role in intestine function. (PMID:29604966)
- ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell Carcinoma. (PMID:32227267)
- ANO9 regulates PD-L2 expression and binding ability to PD-1 in gastric cancer. (PMID:33404124)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ano9a | ENSDARG00000076320 |
| danio_rerio | ano9b | ENSDARG00000079324 |
| mus_musculus | Ano9 | ENSMUSG00000054662 |
| rattus_norvegicus | Ano9 | ENSRNOG00000015830 |
Paralogs (10): ANO2 (ENSG00000047617), ANO8 (ENSG00000074855), PPP1R7 (ENSG00000115685), ANO1 (ENSG00000131620), ANO3 (ENSG00000134343), ANO7 (ENSG00000146205), ANO4 (ENSG00000151572), ANO10 (ENSG00000160746), ANO5 (ENSG00000171714), ANO6 (ENSG00000177119)
Protein
Protein identifiers
Anoctamin-9 — A1A5B4 (reviewed: A1A5B4)
Alternative names: Transmembrane protein 16J, Tumor protein p53-inducible protein 5, p53-induced gene 5 protein
All UniProt accessions (1): A1A5B4
UniProt curated annotations — full annotation on UniProt →
Function. PKA-activated nonselective cation channel. Discriminates poorly among cations but is more permeable to Ca(2+) ions than to monovalent cations. Acts as a calcium-activated calcium permeable channel which may operate as a endoplasmic reticulum (ER) Ca(2+)-leak channel, reducing the loading of the ER Ca(2+) store. Regulates intracellular Ca2+ signals, ion channel activity, and cytokine release in the renal tissue. Plays an important role in olfaction, amplifying cAMP-evoked cyclic nucleotide-gated (CNG) channel currents in the olfactory sensory neurons. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1.
Subcellular location. Cell membrane. Endoplasmic reticulum.
Tissue specificity. Expressed in the kidney. Expressed in the olfactory epithelium.
Post-translational modifications. Phosphorylated on serine residues by cAMP-dependent protein kinase A (PKA) which is essential for activation of its cation channel activity.
Activity regulation. Cation channel activity is activated via phosphorylation on serine residues by cAMP-dependent protein kinase A (PKA).
Miscellaneous. The term ‘anoctamin’ was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.
Similarity. Belongs to the anoctamin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A1A5B4-1 | 1 | yes |
| A1A5B4-2 | 2 | |
| A1A5B4-3 | 3 |
RefSeq proteins (2): NP_001012302, NP_001334811 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007632 | Anoctamin | Family |
| IPR032394 | Anoct_dimer | Domain |
| IPR049452 | Anoctamin_TM | Domain |
Pfam: PF04547, PF16178
Catalyzed reactions (Rhea), 6 shown:
- K(+)(in) = K(+)(out) (RHEA:29463)
- Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)
- Na(+)(in) = Na(+)(out) (RHEA:34963)
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
- a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
- a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(out) = a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(in) (RHEA:38899)
UniProt features (32 total): topological domain 9, transmembrane region 8, glycosylation site 4, splice variant 4, sequence variant 4, chain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A1A5B4-F1 | 80.99 | 0.32 |
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 (1): 250
Glycosylation sites (4): 641, 652, 674, 690
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-2672351 | Stimuli-sensing channels |
| R-HSA-9733458 | Induction of Cell-Cell Fusion |
| R-HSA-1643685 | Disease |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9679506 | SARS-CoV Infections |
| R-HSA-9694516 | SARS-CoV-2 Infection |
| R-HSA-9772573 | Late SARS-CoV-2 Infection Events |
| R-HSA-9824446 | Viral Infection Pathways |
| R-HSA-983712 | Ion channel transport |
MSigDB gene sets: 90 (showing top):
GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_CHLORIDE_TRANSPORT, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_LIPID_METABOLIC_PROCESS, GOBP_SENSORY_PERCEPTION, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_LIPID_LOCALIZATION, GOBP_TRANSMEMBRANE_TRANSPORT
GO Biological Process (10): lipid metabolic process (GO:0006629), sensory perception of smell (GO:0007608), monoatomic ion transmembrane transport (GO:0034220), establishment of localization in cell (GO:0051649), calcium activated phosphatidylserine scrambling (GO:0061589), calcium activated phosphatidylcholine scrambling (GO:0061590), calcium activated galactosylceramide scrambling (GO:0061591), chloride transmembrane transport (GO:1902476), lipid transport (GO:0006869), calcium ion transmembrane transport (GO:0070588)
GO Molecular Function (8): intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), calcium channel activity (GO:0005262), channel activity (GO:0015267), phospholipid scramblase activity (GO:0017128), chloride channel inhibitor activity (GO:0019869), protein dimerization activity (GO:0046983), protein binding (GO:0005515)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Ion channel transport | 1 |
| Late SARS-CoV-2 Infection Events | 1 |
| Disease | 1 |
| Viral Infection Pathways | 1 |
| SARS-CoV Infections | 1 |
| SARS-CoV-2 Infection | 1 |
| Infectious disease | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| calcium activated phospholipid scrambling | 3 |
| chloride channel activity | 2 |
| primary metabolic process | 1 |
| sensory perception of chemical stimulus | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| chloride transport | 1 |
| monoatomic anion transmembrane transport | 1 |
| transport | 1 |
| lipid localization | 1 |
| calcium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| ligand-gated monoatomic anion channel activity | 1 |
| intracellularly calcium-gated channel activity | 1 |
| monoatomic anion channel activity | 1 |
| chloride transmembrane transporter activity | 1 |
| monoatomic cation channel activity | 1 |
| calcium ion transmembrane transporter activity | 1 |
| passive transmembrane transporter activity | 1 |
| plasma membrane phospholipid scrambling | 1 |
| intramembrane lipid carrier activity | 1 |
| ion channel inhibitor activity | 1 |
| chloride channel regulator activity | 1 |
| protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANO9 | PKP3 | Q9Y446 | 571 |
| ANO9 | CLCA4 | Q14CN2 | 479 |
| ANO9 | CLCA2 | Q9UQC9 | 479 |
| ANO9 | CLCA1 | A8K7I4 | 471 |
| ANO9 | KCNMA1 | Q12791 | 424 |
| ANO9 | USP31 | Q70CQ4 | 418 |
| ANO9 | THBS3 | P49746 | 406 |
| ANO9 | FILIP1 | Q7Z7B0 | 402 |
| ANO9 | ARHGEF33 | A8MVX0 | 398 |
| ANO9 | SIGIRR | Q6IA17 | 397 |
| ANO9 | FAT2 | Q9NYQ8 | 396 |
| ANO9 | ANO8 | Q9HCE9 | 377 |
| ANO9 | KMT2C | Q8NEZ4 | 373 |
| ANO9 | FGFBP3 | Q8TAT2 | 373 |
| ANO9 | ZNF592 | Q92610 | 372 |
| ANO9 | GCNA | Q96QF7 | 372 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DLG1 | ANO9 | psi-mi:“MI:0915”(physical association) | 0.570 |
| ANO9 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANO4 | ANO9 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (5): ANO9 (Affinity Capture-MS), ANO9 (Two-hybrid), ANO9 (Affinity Capture-MS), ANO9 (Affinity Capture-MS), HSD17B4 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A1A4P6, A1A5B4, A5PK40, A6NDV4, A6NFX1, A6NGC4, A6QL84, A6QLK4, B1AWJ5, B6ID01, E1BY51, P58749, Q2TA01, Q2YDG0, Q32PG7, Q3T9M1, Q4R7X9, Q5HZE5, Q5JZQ7, Q5R6H1, Q5RBY7, Q60HE8, Q6AY05, Q6AYM9, Q6PHN7, Q6TCG5, Q6UX01, Q6UXD7, Q7RTT9, Q7Z403, Q80ZE4, Q8CE47, Q8R139, Q8TBR7, Q96FZ5, Q96HE8, Q96S97, Q9BSA9, Q9BZW5, Q9CQC4
Diamond homologs: A1A5B4, A2AHL1, A6QLE6, P86044, Q14AT5, Q32M45, Q4KMQ2, Q5XXA6, Q6IFT6, Q6IWH7, Q6P9J9, Q75UR0, Q75V66, Q8BHY3, Q8C5H1, Q8CFW1, Q9BYT9, Q9NQ90, Q6PB70, Q9HCE9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
190 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 0 |
| Uncertain significance | 139 |
| Likely benign | 16 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1807629 | GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 | Pathogenic |
| 2574690 | GRCh37/hg19 11p15.5(chr11:268586-748873) | Pathogenic |
| 4755362 | GRCh38/hg38 11p15.5-15.4(chr11:198510-3400939)x3 | Pathogenic |
| 983191 | GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 | Pathogenic |
SpliceAI
4570 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:418715:CTCA:C | donor_loss | 1.0000 |
| 11:418716:TCAC:T | donor_loss | 1.0000 |
| 11:418717:CACCT:C | donor_loss | 1.0000 |
| 11:418718:ACC:A | donor_loss | 1.0000 |
| 11:418719:C:CG | donor_loss | 1.0000 |
| 11:418811:TAT:T | acceptor_gain | 1.0000 |
| 11:418812:AT:A | acceptor_gain | 1.0000 |
| 11:418814:C:CC | acceptor_gain | 1.0000 |
| 11:418990:C:CC | acceptor_gain | 1.0000 |
| 11:419580:A:AC | donor_gain | 1.0000 |
| 11:419581:C:CT | donor_gain | 1.0000 |
| 11:419581:CT:C | donor_gain | 1.0000 |
| 11:419581:CTCGA:C | donor_gain | 1.0000 |
| 11:419583:CG:C | donor_gain | 1.0000 |
| 11:419596:G:A | donor_gain | 1.0000 |
| 11:419600:T:TA | donor_gain | 1.0000 |
| 11:419628:TGTAG:T | donor_gain | 1.0000 |
| 11:419725:GGTCC:G | acceptor_gain | 1.0000 |
| 11:420441:T:TA | donor_gain | 1.0000 |
| 11:420465:ATGT:A | donor_gain | 1.0000 |
| 11:420468:T:TA | donor_gain | 1.0000 |
| 11:420716:A:AC | donor_gain | 1.0000 |
| 11:420717:C:CC | donor_gain | 1.0000 |
| 11:420717:CTCAT:C | donor_gain | 1.0000 |
| 11:420721:T:C | donor_gain | 1.0000 |
| 11:420943:A:AC | donor_gain | 1.0000 |
| 11:420944:C:CC | donor_gain | 1.0000 |
| 11:420944:CGGGA:C | donor_gain | 1.0000 |
| 11:420958:CG:C | donor_gain | 1.0000 |
| 11:421038:TGGCA:T | acceptor_gain | 1.0000 |
AlphaMissense
5167 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:418891:C:G | C678S | 0.998 |
| 11:418892:A:T | C678S | 0.998 |
| 11:419654:G:A | S621F | 0.997 |
| 11:419654:G:T | S621Y | 0.996 |
| 11:419663:G:T | A618D | 0.996 |
| 11:419675:C:T | G614E | 0.996 |
| 11:421014:A:G | L474P | 0.996 |
| 11:421026:C:G | C470S | 0.996 |
| 11:421027:A:T | C470S | 0.996 |
| 11:429761:A:G | W277R | 0.996 |
| 11:429761:A:T | W277R | 0.996 |
| 11:430144:C:G | C237S | 0.996 |
| 11:430145:A:T | C237S | 0.996 |
| 11:418890:G:C | C678W | 0.995 |
| 11:418960:A:G | L655P | 0.995 |
| 11:419655:A:G | S621P | 0.995 |
| 11:419676:C:A | G614W | 0.995 |
| 11:419677:A:C | N613K | 0.995 |
| 11:419677:A:T | N613K | 0.995 |
| 11:419724:A:G | W598R | 0.995 |
| 11:419724:A:T | W598R | 0.995 |
| 11:420575:G:C | F558L | 0.995 |
| 11:420575:G:T | F558L | 0.995 |
| 11:420577:A:G | F558L | 0.995 |
| 11:420582:G:T | A556D | 0.995 |
| 11:420587:G:C | F554L | 0.995 |
| 11:420587:G:T | F554L | 0.995 |
| 11:420589:A:G | F554L | 0.995 |
| 11:421041:C:G | C465S | 0.995 |
| 11:421042:A:T | C465S | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000258150 (11:434362 C>T), RS1000271510 (11:425890 G>A), RS1000529634 (11:434620 G>A), RS1000720022 (11:420050 G>A,T), RS1000780477 (11:419414 C>A), RS1000899958 (11:425623 G>A), RS1001105147 (11:430006 C>T), RS1001152168 (11:439115 G>A), RS1001162818 (11:423984 C>T), RS1001279170 (11:424295 A>G), RS1001307238 (11:435591 A>G), RS1001316398 (11:443999 T>C), RS1001601585 (11:419312 G>A,C,T), RS1001664557 (11:443743 C>G), RS1001755042 (11:439995 A>G)
Disease associations
OMIM: gene MIM:619963 | disease phenotypes: MIM:130650
GenCC curated gene-disease
Mondo (3): prostate cancer (MONDO:0008315), Beckwith-Wiedemann syndrome due to 11p15 microdeletion (MONDO:0016477), Beckwith-Wiedemann syndrome (MONDO:0007534)
Orphanet (3): Familial prostate cancer (Orphanet:1331), Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127), Beckwith-Wiedemann syndrome (Orphanet:116)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010303_65 | Nevus count or cutaneous melanoma | 3.000000e-08 |
| GCST011584_5 | Metastatic colorectal cancer survival in treatment with chemotherapy plus biologics | 6.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004632 | nevus count |
| EFO:0000714 | survival time |
| EFO:1001480 | metastatic colorectal cancer |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001506 | Beckwith-Wiedemann Syndrome | C16.131.077.133; C16.131.260.080; C16.320.180.080; C16.320.447.375 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| aristolochic acid I | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance, increases expression, affects cotreatment | 1 |
| Aspirin | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome due to 11p15 microdeletion, cutaneous melanoma