KNDC1
geneOn this page
Also known as KIAA1768bB439H18.3FLJ25027Very-KINDv-KIND
Summary
KNDC1 (kinase non-catalytic C-lobe domain containing 1, HGNC:29374) is a protein-coding gene on chromosome 10q26.3, encoding Kinase non-catalytic C-lobe domain-containing protein 1 (Q76NI1). RAS-Guanine nucleotide exchange factor (GEF) that controls the negative regulation of neuronal dendrite growth by mediating a signaling pathway linking RAS and MAP2.
The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies.
Source: NCBI Gene 85442 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 385 total — 1 pathogenic
- MANE Select transcript:
NM_152643
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29374 |
| Approved symbol | KNDC1 |
| Name | kinase non-catalytic C-lobe domain containing 1 |
| Location | 10q26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1768, bB439H18.3, FLJ25027, Very-KIND, v-KIND |
| Ensembl gene | ENSG00000171798 |
| Ensembl biotype | protein_coding |
| OMIM | 616237 |
| Entrez | 85442 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 12 protein_coding, 9 nonsense_mediated_decay, 5 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000304613, ENST00000368571, ENST00000478074, ENST00000485110, ENST00000530127, ENST00000682119, ENST00000682309, ENST00000682310, ENST00000682399, ENST00000682765, ENST00000683144, ENST00000683171, ENST00000683259, ENST00000683646, ENST00000683920, ENST00000684081, ENST00000684098, ENST00000684127, ENST00000684244, ENST00000684248, ENST00000684271, ENST00000684403, ENST00000684739, ENST00000684767, ENST00000919719, ENST00000946347, ENST00000946348
RefSeq mRNA: 4 — MANE Select: NM_152643
NM_001347864, NM_001347865, NM_001347866, NM_152643
CCDS: CCDS7674, CCDS91388, CCDS91389, CCDS91390
Canonical transcript exons
ENST00000304613 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001096949 | 133219031 | 133219090 |
| ENSE00001096954 | 133219955 | 133220112 |
| ENSE00001152990 | 133224659 | 133226412 |
| ENSE00001152998 | 133206685 | 133206778 |
| ENSE00001153056 | 133188539 | 133188653 |
| ENSE00001323571 | 133206856 | 133206953 |
| ENSE00001356846 | 133189598 | 133189669 |
| ENSE00001409509 | 133207137 | 133207351 |
| ENSE00001647099 | 133218831 | 133218953 |
| ENSE00001669459 | 133211422 | 133211569 |
| ENSE00001675307 | 133213645 | 133213727 |
| ENSE00001680208 | 133212716 | 133212922 |
| ENSE00001697341 | 133213972 | 133214122 |
| ENSE00001801667 | 133211679 | 133211858 |
| ENSE00001949770 | 133160219 | 133160569 |
| ENSE00003243477 | 133201501 | 133201898 |
| ENSE00003283928 | 133198578 | 133199266 |
| ENSE00003313627 | 133189752 | 133189813 |
| ENSE00003326058 | 133200375 | 133200460 |
| ENSE00003342425 | 133183344 | 133183490 |
| ENSE00003350272 | 133185974 | 133186674 |
| ENSE00003369482 | 133197058 | 133197135 |
| ENSE00003392339 | 133195663 | 133195821 |
| ENSE00003401353 | 133198337 | 133198499 |
| ENSE00003401489 | 133210611 | 133210724 |
| ENSE00003421125 | 133183872 | 133183989 |
| ENSE00003431146 | 133199458 | 133199602 |
| ENSE00003437093 | 133197675 | 133197768 |
| ENSE00003526294 | 133168254 | 133168312 |
| ENSE00003691247 | 133167381 | 133167579 |
Expression profiles
Bgee: expression breadth ubiquitous, 190 present calls, max score 94.08.
FANTOM5 (CAGE): breadth broad, TPM avg 2.6135 / max 101.4175, expressed in 574 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107750 | 1.7222 | 497 |
| 107751 | 0.7355 | 244 |
| 107749 | 0.1558 | 84 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 94.08 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.69 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.63 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.43 | gold quality |
| right uterine tube | UBERON:0001302 | 93.28 | gold quality |
| cerebellum | UBERON:0002037 | 93.12 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.46 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.49 | gold quality |
| pituitary gland | UBERON:0000007 | 90.33 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.24 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.12 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.10 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.76 | gold quality |
| bronchial epithelial cell | CL:0002328 | 89.72 | gold quality |
| amygdala | UBERON:0001876 | 89.58 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.58 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.55 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.46 | gold quality |
| frontal cortex | UBERON:0001870 | 89.15 | gold quality |
| entorhinal cortex | UBERON:0002728 | 89.10 | gold quality |
| temporal lobe | UBERON:0001871 | 89.03 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.01 | gold quality |
| neocortex | UBERON:0001950 | 88.89 | gold quality |
| bronchus | UBERON:0002185 | 88.69 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.68 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.45 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.40 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.38 | gold quality |
| hypothalamus | UBERON:0001898 | 88.38 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.38 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.89 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting KNDC1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-12130 | 99.75 | 65.47 | 452 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-384 | 98.71 | 67.34 | 1229 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-7111-3P | 97.80 | 66.75 | 1467 |
| HSA-MIR-299-3P | 97.73 | 66.67 | 773 |
| HSA-MIR-4714-5P | 97.04 | 67.76 | 955 |
| HSA-MIR-7847-3P | 96.63 | 64.58 | 952 |
Literature-anchored findings (GeneRIF, showing 2)
- KNDC1 knockdown promoted HUVEC proliferation via the extracellular signal-regulated kinase signaling pathway and delayed HUVEC senescence by inhibiting the p53-p21-p16 transduction cascade. (PMID:24788352)
- The results demonstrated that KNDC1 overexpression possibly inhibited HUVEC activity and function and promoted HUVEC senescence. Mechanistic studies demonstrated that KNDC1 triggered a p53ROS positive feedback loop, which serves a crucial role in regulating senescence. (PMID:29568929)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000116483 | |
| mus_musculus | Kndc1 | ENSMUSG00000066129 |
| rattus_norvegicus | Kndc1 | ENSRNOG00000027240 |
Protein
Protein identifiers
Kinase non-catalytic C-lobe domain-containing protein 1 — Q76NI1 (reviewed: Q76NI1)
Alternative names: Cerebral protein 9, Protein very KIND, Ras-GEF domain-containing family member 2
All UniProt accessions (14): Q76NI1, A0A7I2PM36, A0A804HHZ0, A0A804HI19, A0A804HI34, A0A804HID6, A0A804HIF7, A0A804HIR2, A0A804HIR7, A0A804HIZ4, A0A804HJH2, A0A804HKE4, A0A804HKF6, A0A804HKW7
UniProt curated annotations — full annotation on UniProt →
Function. RAS-Guanine nucleotide exchange factor (GEF) that controls the negative regulation of neuronal dendrite growth by mediating a signaling pathway linking RAS and MAP2. May be involved in cellular senescence.
Subunit / interactions. Interacts (via KIND2) with MAP2; the interaction enhances MAP2 phosphorylation and localizes KNDC1 to dendrites.
Subcellular location. Cell projection. Dendrite. Perikaryon.
Tissue specificity. Expressed specifically in the cerebral cortex.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q76NI1-1 | 1 | yes |
| Q76NI1-4 | 2 |
RefSeq proteins (4): NP_001334793, NP_001334794, NP_001334795, NP_689856* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000651 | Ras-like_Gua-exchang_fac_N | Domain |
| IPR001895 | RASGEF_cat_dom | Domain |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR011019 | KIND_dom | Domain |
| IPR023578 | Ras_GEF_dom_sf | Homologous_superfamily |
| IPR029899 | KNDC1 | Family |
| IPR036964 | RASGEF_cat_dom_sf | Homologous_superfamily |
Pfam: PF00617, PF00618, PF16474
UniProt features (38 total): compositionally biased region 10, sequence conflict 10, sequence variant 5, domain 4, region of interest 4, splice variant 2, chain 1, modified residue 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q76NI1-F1 | 61.25 | 0.22 |
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): 964
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 79 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_REGULATION_OF_DENDRITE_MORPHOGENESIS, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CEREBELLAR_GRANULAR_LAYER_DEVELOPMENT, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT, GOBP_DENDRITE_MORPHOGENESIS, GOBP_CELL_DIFFERENTIATION_IN_HINDBRAIN, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_HEAD_DEVELOPMENT, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT
GO Biological Process (4): small GTPase-mediated signal transduction (GO:0007264), cerebellar granule cell differentiation (GO:0021707), regulation of dendrite morphogenesis (GO:0048814), regulation of dendrite development (GO:0050773)
GO Molecular Function (1): guanyl-nucleotide exchange factor activity (GO:0005085)
GO Cellular Component (5): dendrite (GO:0030425), guanyl-nucleotide exchange factor complex (GO:0032045), neuronal cell body (GO:0043025), perikaryon (GO:0043204), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| intracellular signaling cassette | 1 |
| cell differentiation in hindbrain | 1 |
| cerebellar granular layer formation | 1 |
| central nervous system neuron differentiation | 1 |
| glutamatergic neuron differentiation | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| dendrite morphogenesis | 1 |
| regulation of dendrite development | 1 |
| regulation of neuron projection development | 1 |
| dendrite development | 1 |
| regulation of developmental process | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| intracellular protein-containing complex | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| neuronal cell body | 1 |
Protein interactions and networks
STRING
776 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KNDC1 | ADGRA1 | Q86SQ6 | 665 |
| KNDC1 | CDH24 | Q86UP0 | 579 |
| KNDC1 | ZSCAN29 | Q8IWY8 | 518 |
| KNDC1 | CDHR2 | Q9BYE9 | 518 |
| KNDC1 | ITM2C | Q9NQX7 | 513 |
| KNDC1 | ZSCAN20 | P17040 | 490 |
| KNDC1 | LRRC71 | Q8N4P6 | 480 |
| KNDC1 | CDH18 | Q13634 | 446 |
| KNDC1 | SLC36A4 | Q6YBV0 | 434 |
| KNDC1 | PTPRT | O14522 | 429 |
| KNDC1 | FRMPD2 | Q68DX3 | 419 |
| KNDC1 | GPR183 | P32249 | 386 |
| KNDC1 | VENTX | O95231 | 376 |
| KNDC1 | SLC15A1 | P46059 | 368 |
| KNDC1 | SHISAL2A | Q6UWV7 | 365 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| P/V | IRS4 | psi-mi:“MI:0914”(association) | 0.530 |
| KNDC1 | LMNA | psi-mi:“MI:0915”(physical association) | 0.400 |
| KNDC1 | ATP5PO | psi-mi:“MI:0915”(physical association) | 0.400 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | PDZD2 | psi-mi:“MI:0914”(association) | 0.350 |
| KNDC1 | ASAP2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (26): KNDC1 (Affinity Capture-MS), KNDC1 (Affinity Capture-RNA), KNDC1 (Affinity Capture-MS), KNDC1 (Proximity Label-MS), KNDC1 (Proximity Label-MS), KNDC1 (Affinity Capture-MS), ANAPC4 (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), NDUFS1 (Affinity Capture-MS), PPP2R5B (Affinity Capture-MS), PPP2R5E (Affinity Capture-MS), PPP2R5A (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), DCAF7 (Affinity Capture-MS)
ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944
Diamond homologs: Q0KK55, Q76NI1, Q8IS18
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KNDC1 | “up-regulates activity” | MAP2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
385 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 324 |
| Likely benign | 34 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2574693 | GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) | Pathogenic |
SpliceAI
6779 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:133160566:CGAGG:C | donor_loss | 1.0000 |
| 10:133160567:GAG:G | donor_gain | 1.0000 |
| 10:133160567:GAGGT:G | donor_loss | 1.0000 |
| 10:133160568:AGGTG:A | donor_loss | 1.0000 |
| 10:133160569:GGTG:G | donor_loss | 1.0000 |
| 10:133160570:G:C | donor_loss | 1.0000 |
| 10:133160570:G:GG | donor_gain | 1.0000 |
| 10:133160571:T:G | donor_loss | 1.0000 |
| 10:133167577:GCG:G | donor_gain | 1.0000 |
| 10:133168252:A:G | acceptor_gain | 1.0000 |
| 10:133168253:G:GG | acceptor_gain | 1.0000 |
| 10:133183338:CCACA:C | acceptor_loss | 1.0000 |
| 10:133183341:CA:C | acceptor_loss | 1.0000 |
| 10:133183342:A:AG | acceptor_gain | 1.0000 |
| 10:133183342:A:C | acceptor_loss | 1.0000 |
| 10:133183343:G:GG | acceptor_gain | 1.0000 |
| 10:133183343:GGC:G | acceptor_gain | 1.0000 |
| 10:133183343:GGCGC:G | acceptor_gain | 1.0000 |
| 10:133183488:GAG:G | donor_gain | 1.0000 |
| 10:133183488:GAGGT:G | donor_loss | 1.0000 |
| 10:133183489:AGG:A | donor_loss | 1.0000 |
| 10:133183490:GGT:G | donor_loss | 1.0000 |
| 10:133183491:G:GG | donor_gain | 1.0000 |
| 10:133183491:GT:G | donor_loss | 1.0000 |
| 10:133188537:AGTG:A | acceptor_gain | 1.0000 |
| 10:133188538:GTGG:G | acceptor_gain | 1.0000 |
| 10:133198497:CAGGT:C | donor_loss | 1.0000 |
| 10:133198498:AGGT:A | donor_loss | 1.0000 |
| 10:133198501:T:A | donor_loss | 1.0000 |
| 10:133199450:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
11365 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:133167538:T:C | F87S | 0.999 |
| 10:133220099:T:A | W1669R | 0.999 |
| 10:133220099:T:C | W1669R | 0.999 |
| 10:133206752:T:C | L1152P | 0.998 |
| 10:133211468:A:C | S1319R | 0.998 |
| 10:133211470:C:A | S1319R | 0.998 |
| 10:133211470:C:G | S1319R | 0.998 |
| 10:133211489:T:A | W1326R | 0.998 |
| 10:133211489:T:C | W1326R | 0.998 |
| 10:133214084:T:A | W1547R | 0.998 |
| 10:133214084:T:C | W1547R | 0.998 |
| 10:133214093:G:C | A1550P | 0.998 |
| 10:133219077:T:C | L1616P | 0.998 |
| 10:133167532:T:C | L85P | 0.997 |
| 10:133206739:T:C | F1148L | 0.997 |
| 10:133206741:C:A | F1148L | 0.997 |
| 10:133206741:C:G | F1148L | 0.997 |
| 10:133207330:T:C | L1258P | 0.997 |
| 10:133167562:T:C | F95S | 0.996 |
| 10:133183372:T:C | L130P | 0.996 |
| 10:133199538:T:A | W947R | 0.996 |
| 10:133199538:T:C | W947R | 0.996 |
| 10:133199563:T:C | L955P | 0.996 |
| 10:133206886:T:C | L1171P | 0.996 |
| 10:133212906:T:C | L1476P | 0.996 |
| 10:133167444:T:A | W56R | 0.995 |
| 10:133167444:T:C | W56R | 0.995 |
| 10:133167453:T:C | C59R | 0.995 |
| 10:133167517:T:A | I80N | 0.995 |
| 10:133183362:G:T | G127W | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000015295 (10:133170226 C>T), RS1000089431 (10:133178596 G>A), RS1000096301 (10:133161899 G>A,T), RS1000126885 (10:133200868 T>C), RS1000167809 (10:133196359 C>T), RS1000177906 (10:133211126 G>A), RS1000234290 (10:133204496 C>T), RS1000268903 (10:133165322 G>A), RS1000318661 (10:133192342 G>C,T), RS1000375060 (10:133173731 C>T), RS1000391039 (10:133200373 AGCACGGC>A), RS1000411933 (10:133200702 G>A), RS1000453167 (10:133216860 G>A), RS1000480869 (10:133189067 G>A,T), RS1000494824 (10:133168763 G>T)
Disease associations
OMIM: gene MIM:616237 | disease phenotypes: MIM:609625
GenCC curated gene-disease
Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), distal 10q deletion syndrome (MONDO:0012315)
Orphanet (1): Distal deletion 10q syndrome (Orphanet:96148)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008512_29 | Multisite chronic pain | 4.000000e-08 |
| GCST009514_3 | Recurrence of mild malaria attacks | 8.000000e-07 |
| GCST90000514_15 | Gastroesophageal reflux disease | 5.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010100 | multisite chronic pain |
| EFO:0004952 | disease recurrence |
MeSH disease descriptors (2)
| 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 |
| C567182 | Chromosome 10q26 Deletion Syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases methylation, decreases expression | 2 |
| Valproic Acid | increases methylation, affects expression | 2 |
| fluorene-9-bisphenol | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sodium arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| licochalcone B | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects methylation, increases abundance | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Silicon Dioxide | decreases 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): distal 10q deletion syndrome, gastroesophageal reflux disease