ITPRID2
gene geneOn this page
Also known as CS-1SPAG13KRAPKIAA1927
Summary
ITPRID2 (ITPR interacting domain containing 2, HGNC:11319) is a protein-coding gene on chromosome 2q31.3, encoding Protein ITPRID2 (P28290).
Enables actin filament binding activity. Located in cytosol; nucleoplasm; and plasma membrane.
Source: NCBI Gene 6744 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 235 total
- MANE Select transcript:
NM_001130445
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11319 |
| Approved symbol | ITPRID2 |
| Name | ITPR interacting domain containing 2 |
| Location | 2q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CS-1, SPAG13, KRAP, KIAA1927 |
| Ensembl gene | ENSG00000138434 |
| Ensembl biotype | protein_coding |
| OMIM | 118990 |
| Entrez | 6744 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 5 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron
ENST00000320370, ENST00000409001, ENST00000409136, ENST00000416081, ENST00000431877, ENST00000440623, ENST00000451836, ENST00000454579, ENST00000467172, ENST00000470129, ENST00000470654, ENST00000480753, ENST00000491720, ENST00000491866, ENST00000495248
RefSeq mRNA: 5 — MANE Select: NM_001130445
NM_001130445, NM_001287503, NM_001287504, NM_001287505, NM_006751
CCDS: CCDS2284, CCDS46467, CCDS74611
Canonical transcript exons
ENST00000431877 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001856802 | 181891730 | 181892277 |
| ENSE00003470274 | 181892615 | 181892660 |
| ENSE00003478432 | 181899014 | 181899112 |
| ENSE00003481058 | 181915216 | 181916427 |
| ENSE00003484965 | 181909899 | 181909971 |
| ENSE00003509369 | 181896030 | 181896079 |
| ENSE00003540610 | 181900696 | 181900904 |
| ENSE00003550859 | 181918755 | 181918882 |
| ENSE00003553870 | 181919296 | 181919446 |
| ENSE00003585470 | 181928161 | 181928278 |
| ENSE00003591649 | 181918598 | 181918675 |
| ENSE00003595199 | 181898880 | 181898919 |
| ENSE00003608086 | 181896908 | 181896964 |
| ENSE00003632928 | 181901766 | 181902466 |
| ENSE00003641110 | 181920597 | 181920662 |
| ENSE00003656704 | 181913845 | 181913933 |
| ENSE00003659149 | 181921948 | 181922412 |
| ENSE00003682798 | 181929561 | 181930738 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.4994 / max 461.1191, expressed in 1817 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24022 | 22.1675 | 1781 |
| 24020 | 3.4297 | 1381 |
| 24017 | 3.0739 | 1373 |
| 24019 | 3.0260 | 1378 |
| 24029 | 2.8586 | 1065 |
| 24018 | 2.5707 | 1312 |
| 24023 | 1.4196 | 654 |
| 24028 | 1.2383 | 605 |
| 24021 | 0.7018 | 428 |
| 24024 | 0.6817 | 342 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 98.90 | gold quality |
| tibial nerve | UBERON:0001323 | 98.34 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.23 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.16 | gold quality |
| sural nerve | UBERON:0015488 | 98.03 | gold quality |
| upper leg skin | UBERON:0004262 | 97.64 | gold quality |
| rectum | UBERON:0001052 | 97.57 | gold quality |
| hair follicle | UBERON:0002073 | 97.52 | gold quality |
| skin of leg | UBERON:0001511 | 97.47 | gold quality |
| zone of skin | UBERON:0000014 | 97.37 | gold quality |
| pancreas | UBERON:0001264 | 97.32 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.31 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.30 | gold quality |
| endothelial cell | CL:0000115 | 97.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.14 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.04 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.98 | gold quality |
| right lung | UBERON:0002167 | 96.93 | gold quality |
| gall bladder | UBERON:0002110 | 96.85 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.84 | gold quality |
| skin of hip | UBERON:0001554 | 96.81 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.65 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 96.63 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.55 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.52 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.50 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.44 | gold quality |
| medial globus pallidus | UBERON:0002477 | 96.38 | gold quality |
| cerebellum | UBERON:0002037 | 96.28 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 96.27 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81547 | yes | 20.94 |
| E-CURD-114 | yes | 11.46 |
| E-MTAB-10137 | no | 3.81 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1
miRNA regulators (miRDB)
128 targeting ITPRID2, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 12)
- localized as a membrane-bound form with extracellular regions; results suggested KRAP might be involved in the regulation of filamentous actin and signals from the outside of the cells (PMID:14673706)
- results suggested that KRAP might be a cytoskeleton-associated protein involving the structural integrity and/or signal transductions in human cancers. (PMID:17934691)
- KRAP is involved in the proper regulation of IP3R-mediated Ca2+ release. (PMID:21457704)
- the critical region of KRAP protein for the regulation of IP(3)R was determined. (PMID:21501587)
- the predicted coiled-coil region & the region adjacent to the coiled-coil region of the carboxyl-terminus of KRAP may be crucial for its interaction with the cytoskeleton or directional targeting toward the apical pole in polarized epithelial cells (PMID:21873152)
- phosphorylation at Ser92 of the sperm-specific antigen 2 (SSFA2)[phospho-SSFA2 (pS92)], was related to poor prognosis. (PMID:26947549)
- These result reveals us that SSFA2 may act as oncogene to promote the progression of glioma (PMID:30712887)
- KRAP tethers IP3 receptors to actin and licenses them to evoke cytosolic Ca(2+) signals. (PMID:34301929)
- Circular RNA UBR1 promotes the proliferation, migration, and invasion but represses apoptosis of lung cancer cells via modulating microRNA-545-5p/SSFA2 axis. (PMID:34787049)
- KRAP is required for diffuse and punctate IP3-mediated Ca(2+) liberation and determines the number of functional IP3R channels within clusters. (PMID:36030740)
- IP3R1 dysregulation via mir-200c-3p/SSFA2 axis contributes to taxol resistance in head and neck cancer. (PMID:38642666)
- KRAP regulates mitochondrial Ca2+ uptake by licensing IP3 receptor activity and stabilizing ER-mitochondrial junctions. (PMID:38786982)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | itprid2 | ENSDARG00000038938 |
| mus_musculus | Itprid2 | ENSMUSG00000027007 |
| rattus_norvegicus | Itprid2 | ENSRNOG00000005865 |
Paralogs (2): TESPA1 (ENSG00000135426), ITPRID1 (ENSG00000180347)
Protein
Protein identifiers
Protein ITPRID2 — P28290 (reviewed: P28290)
Alternative names: Cleavage signal-1 protein, ITPR-interacting domain-containing protein 2, Ki-ras-induced actin-interacting protein, Sperm-specific antigen 2
All UniProt accessions (5): E7EUL7, E9PHV5, F2Z295, H7BZ26, P28290
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm.
Tissue specificity. Strongly expressed in pancreas and testis. Present in colon cancer cells (at protein level).
Post-translational modifications. A 33 kDa peptide corresponding to the C-terminus of this protein is found in the testis and seems to be cleaved into 2 peptides of 14 kDa and 18 kDa found on the surface of mature sperm cells. This sperm surface antigen may be involved in some step of early cleavage of the fertilized oocyte.
Induction. Up-regulated by activated KRAS.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P28290-1 | 1 | yes |
| P28290-2 | 2 | |
| P28290-3 | 3 |
RefSeq proteins (4): NP_001123917, NP_001274432, NP_001274433, NP_006742 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029325 | ITPR-bd | Domain |
| IPR029326 | SSFA2_C | Domain |
| IPR043444 | TESPA1-like | Family |
Pfam: PF14722, PF14723
UniProt features (60 total): modified residue 26, sequence conflict 9, compositionally biased region 8, region of interest 6, sequence variant 4, splice variant 3, cross-link 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P28290-F1 | 50.96 | 0.05 |
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 (28): 87, 92, 111, 209, 270, 330, 466, 644, 668, 737, 739, 746, 759, 767, 803, 869, 902, 1040, 1055, 1060 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 207 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, WANG_CLIM2_TARGETS_UP, GRUETZMANN_PANCREATIC_CANCER_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, BILD_SRC_ONCOGENIC_SIGNATURE, AGGCACT_MIR5153P, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, TGTGTGA_MIR377, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GOMF_ACTIN_BINDING
GO Biological Process (0):
GO Molecular Function (4): signaling receptor binding (GO:0005102), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
728 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ITPRID2 | COBL | O75128 | 863 |
| ITPRID2 | WAS | P42768 | 604 |
| ITPRID2 | APPBP2 | Q92624 | 518 |
| ITPRID2 | IZUMO4 | Q1ZYL8 | 497 |
| ITPRID2 | TEX2 | Q8IWB9 | 469 |
| ITPRID2 | NWD1 | Q149M9 | 433 |
| ITPRID2 | GRB10 | Q13322 | 423 |
| ITPRID2 | PJVK | Q0ZLH3 | 406 |
| ITPRID2 | HSD17B14 | Q9BPX1 | 397 |
| ITPRID2 | VANGL2 | Q9ULK5 | 389 |
| ITPRID2 | INTS11 | Q5TA45 | 361 |
| ITPRID2 | SPAG7 | O75391 | 357 |
| ITPRID2 | BEND6 | Q5SZJ8 | 350 |
| ITPRID2 | SPAG5 | Q96R06 | 347 |
| ITPRID2 | INTS1 | Q8N201 | 346 |
IntAct
151 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| KIF24 | CCP110 | psi-mi:“MI:0914”(association) | 0.810 |
| ITPRID2 | YWHAQ | psi-mi:“MI:0915”(physical association) | 0.790 |
| L3MBTL2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| ITPRID2 | SGF29 | psi-mi:“MI:0915”(physical association) | 0.710 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| TSG101 | ITPRID2 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| TFDP3 | E2F3 | psi-mi:“MI:0914”(association) | 0.530 |
| TAFA4 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| FGL2 | PCNT | psi-mi:“MI:0914”(association) | 0.530 |
| ITPRID2 | PIGR | psi-mi:“MI:0914”(association) | 0.530 |
| ARC | FER | psi-mi:“MI:0914”(association) | 0.530 |
| BBOX1 | ITPRID2 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| STX11 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| ITPRID2 | CBL | psi-mi:“MI:0914”(association) | 0.530 |
| SGF29 | MATN2 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | ITPRID2 | psi-mi:“MI:0915”(physical association) | 0.520 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
BioGRID (204): SSFA2 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), CBL (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), CCDC101 (Affinity Capture-MS), PIGR (Affinity Capture-MS), PCM1 (Affinity Capture-MS), IGHA2 (Affinity Capture-MS), IGHA1 (Affinity Capture-MS), VPS33B (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GVS7, A2CE83, A2VDU1, A5D992, A8KBE0, O43597, O43609, O43610, P28290, Q02223, Q08AD1, Q08E39, Q14CH0, Q1L0X2, Q2PFN5, Q2TBG9, Q3UUD2, Q4R815, Q5R959, Q5RGQ8, Q5TB30, Q66H35, Q6AYK4, Q6DD45, Q6GPM0, Q6NRB7, Q6P995, Q6PEM6, Q6ZUJ8, Q7ZX27, Q866R9, Q86VY9, Q8BGN6, Q8C3K5, Q8C817, Q8IYD9, Q8N957, Q96HH4, Q9BZD6, Q9C004
Diamond homologs: A2RU30, P28290, Q14B48, Q3U132, Q6ZRS4, Q922B9, Q5REU9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 155 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 52.2× | 5e-09 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 46.1× | 8e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 46.1× | 8e-09 |
| Activation of BH3-only proteins | 7 | 34.1× | 7e-08 |
| RHO GTPases activate PKNs | 9 | 28.0× | 5e-09 |
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 28.0× | 2e-05 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 26.7× | 2e-05 |
| RHO GTPases activate PAKs | 5 | 26.7× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of neuronal synaptic plasticity | 5 | 25.1× | 5e-04 |
| substantia nigra development | 6 | 16.4× | 5e-04 |
| long-term synaptic potentiation | 7 | 14.7× | 4e-04 |
| protein targeting | 5 | 13.7× | 5e-03 |
| intracellular protein localization | 10 | 7.8× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
235 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 203 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3078 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:181892214:G:GT | donor_gain | 1.0000 |
| 2:181892223:G:GT | donor_gain | 1.0000 |
| 2:181892232:G:GT | donor_gain | 1.0000 |
| 2:181892235:G:GT | donor_gain | 1.0000 |
| 2:181892275:GAG:G | donor_gain | 1.0000 |
| 2:181892275:GAGG:G | donor_loss | 1.0000 |
| 2:181892278:GTC:G | donor_loss | 1.0000 |
| 2:181892607:A:AG | acceptor_gain | 1.0000 |
| 2:181896028:A:AG | acceptor_gain | 1.0000 |
| 2:181896029:G:GG | acceptor_gain | 1.0000 |
| 2:181896960:TGAAG:T | donor_loss | 1.0000 |
| 2:181896961:GAAGG:G | donor_loss | 1.0000 |
| 2:181896962:AAGGT:A | donor_loss | 1.0000 |
| 2:181896964:GGT:G | donor_loss | 1.0000 |
| 2:181896965:G:A | donor_loss | 1.0000 |
| 2:181896966:T:G | donor_loss | 1.0000 |
| 2:181898872:A:AG | acceptor_gain | 1.0000 |
| 2:181898873:C:G | acceptor_gain | 1.0000 |
| 2:181898878:A:AG | acceptor_gain | 1.0000 |
| 2:181898879:G:GG | acceptor_gain | 1.0000 |
| 2:181898879:GC:G | acceptor_gain | 1.0000 |
| 2:181899012:A:AG | acceptor_gain | 1.0000 |
| 2:181899013:G:GG | acceptor_gain | 1.0000 |
| 2:181899013:GCA:G | acceptor_gain | 1.0000 |
| 2:181899013:GCAAT:G | acceptor_gain | 1.0000 |
| 2:181900694:A:AG | acceptor_gain | 1.0000 |
| 2:181900694:AGT:A | acceptor_gain | 1.0000 |
| 2:181900695:G:GA | acceptor_gain | 1.0000 |
| 2:181900695:GT:G | acceptor_gain | 1.0000 |
| 2:181900695:GTG:G | acceptor_gain | 1.0000 |
AlphaMissense
8250 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:181892644:T:A | W81R | 1.000 |
| 2:181892644:T:C | W81R | 1.000 |
| 2:181892646:G:C | W81C | 1.000 |
| 2:181892646:G:T | W81C | 1.000 |
| 2:181892648:T:C | L82P | 1.000 |
| 2:181900743:T:A | L184H | 1.000 |
| 2:181900743:T:C | L184P | 1.000 |
| 2:181900752:T:C | L187P | 1.000 |
| 2:181900757:T:C | F189L | 1.000 |
| 2:181900758:T:C | F189S | 1.000 |
| 2:181900759:T:A | F189L | 1.000 |
| 2:181900759:T:G | F189L | 1.000 |
| 2:181901771:T:C | F240L | 1.000 |
| 2:181901772:T:C | F240S | 1.000 |
| 2:181901773:T:A | F240L | 1.000 |
| 2:181901773:T:G | F240L | 1.000 |
| 2:181901790:T:C | L246P | 1.000 |
| 2:181901801:G:C | A250P | 1.000 |
| 2:181901802:C:A | A250D | 1.000 |
| 2:181901807:G:C | A252P | 1.000 |
| 2:181892137:G:C | R24T | 0.999 |
| 2:181892138:G:C | R24S | 0.999 |
| 2:181892138:G:T | R24S | 0.999 |
| 2:181892145:T:A | W27R | 0.999 |
| 2:181892145:T:C | W27R | 0.999 |
| 2:181892147:G:C | W27C | 0.999 |
| 2:181892147:G:T | W27C | 0.999 |
| 2:181900707:T:C | L172S | 0.999 |
| 2:181900710:T:C | L173S | 0.999 |
| 2:181900716:T:C | L175P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000100482 (2:181900724 G>A), RS1000171421 (2:181927464 T>G), RS1000267058 (2:181901249 C>T), RS1000308719 (2:181918150 C>G,T), RS1000413491 (2:181892855 C>T), RS1000484729 (2:181924474 G>C), RS1000598663 (2:181918289 T>A), RS1000601405 (2:181902791 A>C), RS1000614762 (2:181894253 T>G), RS1000734179 (2:181905526 T>A), RS1000736220 (2:181890379 T>C), RS1000812176 (2:181930882 A>T), RS1000827195 (2:181926449 C>A,T), RS1000842066 (2:181928538 G>A), RS1000952040 (2:181892180 G>A)
Disease associations
OMIM: gene MIM:118990 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases methylation | 6 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | affects methylation, decreases expression, increases abundance, increases expression | 3 |
| Air Pollutants | increases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | affects sumoylation | 1 |
| bisphenol A | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| nickel sulfate | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| torcetrapib | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | affects expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Vehicle Emissions | decreases reaction, increases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma