SRCIN1
gene geneOn this page
Also known as SNIPp140CapKIAA1684
Summary
SRCIN1 (SRC kinase signaling inhibitor 1, HGNC:29506) is a protein-coding gene on chromosome 17q12, encoding SRC kinase signaling inhibitor 1 (Q9C0H9). Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration.
Enables protein kinase binding activity. Involved in several processes, including postsynaptic actin cytoskeleton organization; regulation of protein tyrosine kinase activity; and substrate adhesion-dependent cell spreading. Located in actin cytoskeleton and cytoplasm. Is active in glutamatergic synapse.
Source: NCBI Gene 80725 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 174 total
- Druggable target: yes
- MANE Select transcript:
NM_025248
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29506 |
| Approved symbol | SRCIN1 |
| Name | SRC kinase signaling inhibitor 1 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SNIP, p140Cap, KIAA1684 |
| Ensembl gene | ENSG00000277363 |
| Ensembl biotype | protein_coding |
| OMIM | 610786 |
| Entrez | 80725 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000612208, ENST00000612431, ENST00000613927, ENST00000617146, ENST00000621275, ENST00000621492, ENST00000621763, ENST00000622190, ENST00000622519
RefSeq mRNA: 1 — MANE Select: NM_025248
NM_025248
CCDS: CCDS45660
Canonical transcript exons
ENST00000615049 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 129 present calls, max score 97.58.
FANTOM5 (CAGE): breadth broad, TPM avg 7.4933 / max 451.6762, expressed in 815 samples.
FANTOM5 promoters (17 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165527 | 3.3358 | 574 |
| 165509 | 0.7879 | 321 |
| 165524 | 0.5523 | 95 |
| 165528 | 0.4678 | 225 |
| 165521 | 0.4659 | 94 |
| 165522 | 0.4013 | 101 |
| 165517 | 0.3523 | 85 |
| 165516 | 0.2658 | 106 |
| 165511 | 0.1644 | 16 |
| 165519 | 0.1344 | 57 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.58 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.29 | gold quality |
| cerebellum | UBERON:0002037 | 96.22 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.20 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.16 | gold quality |
| substantia nigra | UBERON:0002038 | 95.44 | gold quality |
| Ammon’s horn | UBERON:0001954 | 95.14 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.13 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.22 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.95 | gold quality |
| temporal lobe | UBERON:0001871 | 92.89 | gold quality |
| hypothalamus | UBERON:0001898 | 92.86 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.83 | gold quality |
| amygdala | UBERON:0001876 | 92.82 | gold quality |
| frontal cortex | UBERON:0001870 | 92.74 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.49 | gold quality |
| brain | UBERON:0000955 | 92.36 | gold quality |
| putamen | UBERON:0001874 | 92.33 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.04 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.71 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.21 | gold quality |
| pituitary gland | UBERON:0000007 | 90.27 | gold quality |
| caudate nucleus | UBERON:0001873 | 89.42 | gold quality |
| cortical plate | UBERON:0005343 | 89.33 | gold quality |
| right uterine tube | UBERON:0001302 | 88.80 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.69 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.22 | gold quality |
| corpus callosum | UBERON:0002336 | 88.17 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.63 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.15 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
161 targeting SRCIN1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
Literature-anchored findings (GeneRIF, showing 24)
- provides the first evidence that p140Cap is a novel negative regulator of tumour growth (PMID:17525734)
- Expression correlated significantly with unfavourable overall survival, suggesting that SNIP/p140Cap may be a useful diagnostic and prognostic marker, aas well as therapeutic target, in breast cancer. (PMID:18475297)
- p140Cap immobilizes E-cadherin at the cell membrane and inhibits EGFR and Erk1/2 signalling, blocking scatter and proliferation of cancer cells. (PMID:20453886)
- p140Cap phosphorylation sites and binding to Csk and Abl kinase (PMID:23383002)
- Findings indicate the role of miR-150 as an oncogene in lung cancer through the inhibition of SRC kinase signalling inhibitor 1 (SRCIN1) translation. (PMID:24456795)
- these findings suggest that miR-374a functions as a candidate oncogene in GC by directly targeting SRCIN1 (PMID:25554419)
- these results reveal a novel function of postsynaptic endophilin A1 in spine morphogenesis, stabilization and synaptic function through the regulation of p140Cap (PMID:25771685)
- miR-211 may function as an oncogenic miRNA in non-small cell lung cancer, partly by regulating SRCIN1 (PMID:26277787)
- miR-346 may function as an oncogenic miRNA and mediate chemosensitivity to docetaxel through targeting SRCIN1 in breast cancer (PMID:27913185)
- Data indicate that the major mechanism is the ability of p140Cap to interfere with ERBB2-dependent activation of Rac GTPase-controlled circuitries. (PMID:28300085)
- Together, these results demonstrate that Srcin1 contributes to CRC carcinogenesis, invasion and metastasis. These findings provide a rationale for a mechanistic approach to CRC treatment based on the development of Srcin1-targeted therapies (PMID:28393242)
- Study demonstrates a critical role of presynaptic cadherin/catenin/p140Cap cell adhesion complexes in stabilizing functional synapses and spines in the developing neocortex. (PMID:28641114)
- These findings suggest that the miR-17-5p promotes cell proliferation, and EMT in human OS by directly targeting the SRCIN1, and reveal a branch of the miR-17-5p/SRCIN1/EMT signaling pathway involved in the progression of osteosarcoma. (PMID:30302813)
- Upregulation of miR-150 promoted angiogenesis and proliferation of endothelial progenitor cells by targeting SRCIN1 in vitro and thrombus resolution in vivo. (PMID:30315850)
- this study revealed that miR-374a promoted cell proliferation, migration and EMT via targeting SRCIN1 in pancreatic cancer (PMID:30890278)
- The SRCIN1/p140Cap adaptor protein negatively regulates the aggressiveness of neuroblastoma. (PMID:31285546)
- Breast cancer cell-derived exosomal miR-20a-5p promotes the proliferation and differentiation of osteoclasts by targeting SRCIN1. (PMID:31385464)
- the present study is the first to provide evidence that miR208a exerts oncogenic functions in the carcinogenesis and progression of nonsmall cell lung cancer by directly targeting SRCIN1 and regulating the ERK pathway. (PMID:31432113)
- lncRNA TPTEP1 competitively sponges miR3285p to inhibit the proliferation of nonsmall cell lung cancer cells. (PMID:32323798)
- FOXD3-AS1 suppresses the progression of non-small cell lung cancer by regulating miR-150/SRCIN1axis. (PMID:32924985)
- SRCIN1 Regulated by circCCDC66/miR-211 Is Upregulated and Promotes Cell Proliferation in Non-Small-Cell Lung Cancer. (PMID:32964035)
- The p140Cap adaptor protein as a molecular hub to block cancer aggressiveness. (PMID:33079227)
- p140Cap inhibits beta-Catenin in the breast cancer stem cell compartment instructing a protective anti-tumor immune response. (PMID:37169737)
- Hypermethylation of the Gene Body in SRCIN1 Is Involved in Breast Cancer Cell Proliferation and Is a Potential Blood-Based Biomarker for Early Detection and a Poor Prognosis. (PMID:38785978)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | srcin1a | ENSDARG00000059773 |
| danio_rerio | srcin1b | ENSDARG00000101812 |
| mus_musculus | Srcin1 | ENSMUSG00000038453 |
| rattus_norvegicus | Srcin1 | ENSRNOG00000011475 |
| drosophila_melanogaster | CG32809 | FBGN0023531 |
| caenorhabditis_elegans | WBGENE00022180 |
Paralogs (1): KIAA1217 (ENSG00000120549)
Protein
Protein identifiers
SRC kinase signaling inhibitor 1 — Q9C0H9 (reviewed: Q9C0H9)
Alternative names: SNAP-25-interacting protein, p130Cas-associated protein, p140Cap
All UniProt accessions (6): Q9C0H9, A0A087WTE6, A0A087WU33, A0A087WVV7, A0A087X165, A0A590UJ70
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance.
Subunit / interactions. Interacts with the N-terminal coiled-coil region of SNAP25. Interacts with BCAR1/p130Cas and SRC through its C-terminal domain. Interacts with CSK, CTTN, SORBS3/vinexin, SYP and MAPRE3/EB3.
Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Axon. Dendrite. Presynapse. Postsynapse. Postsynaptic density.
Tissue specificity. Expressed in some primary breast carcinomas where its presence is significantly associated with increased tumor size. Not detected in normal breast tissue.
Post-translational modifications. Tyrosine-phosphorylated in response to EGF and to cell adhesion to integrin ligands.
Similarity. Belongs to the SRCIN1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9C0H9-5 | 1 | yes |
| Q9C0H9-2 | 2 | |
| Q9C0H9-4 | 3 |
RefSeq proteins (1): NP_079524* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR022782 | AIP3-like_C | Domain |
| IPR051825 | SRCIN1 | Family |
Pfam: PF03915
UniProt features (81 total): modified residue 41, sequence conflict 13, compositionally biased region 11, region of interest 8, splice variant 5, coiled-coil region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9C0H9-F1 | 55.20 | 0.20 |
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 (41): 13, 18, 45, 52, 53, 64, 143, 165, 169, 179, 225, 241, 298, 307, 324, 329, 336, 343, 362, 364 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 240 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, MYOGENIN_Q6, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5
GO Biological Process (7): exocytosis (GO:0006887), regulation of cell migration (GO:0030334), substrate adhesion-dependent cell spreading (GO:0034446), regulation of dendritic spine morphogenesis (GO:0061001), positive regulation of protein tyrosine kinase activity (GO:0061098), negative regulation of protein tyrosine kinase activity (GO:0061099), postsynaptic actin cytoskeleton organization (GO:0098974)
GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)
GO Cellular Component (11): cytoplasm (GO:0005737), postsynaptic density (GO:0014069), actin cytoskeleton (GO:0015629), axon (GO:0030424), dendrite (GO:0030425), synapse (GO:0045202), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), cytoskeleton (GO:0005856), cell projection (GO:0042995), postsynapse (GO:0098794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| synapse | 3 |
| protein tyrosine kinase activity | 2 |
| regulation of protein tyrosine kinase activity | 2 |
| neuron projection | 2 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| cell migration | 1 |
| regulation of cell motility | 1 |
| cell-substrate adhesion | 1 |
| regulation of neuron projection development | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| dendritic spine morphogenesis | 1 |
| regulation of postsynapse organization | 1 |
| positive regulation of protein kinase activity | 1 |
| positive regulation of peptidyl-tyrosine phosphorylation | 1 |
| negative regulation of protein kinase activity | 1 |
| negative regulation of peptidyl-tyrosine phosphorylation | 1 |
| actin cytoskeleton organization | 1 |
| postsynaptic cytoskeleton organization | 1 |
| kinase binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| cytoskeleton | 1 |
| dendritic tree | 1 |
| cell junction | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1064 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SRCIN1 | HCLS1 | P14317 | 911 |
| SRCIN1 | CTTN | Q14247 | 911 |
| SRCIN1 | MAPRE3 | Q9UPY8 | 908 |
| SRCIN1 | DLG4 | P78352 | 674 |
| SRCIN1 | SRC | P12931 | 636 |
| SRCIN1 | SNAP25 | P13795 | 578 |
| SRCIN1 | BCAR1 | P56945 | 558 |
| SRCIN1 | NEXN | Q0ZGT2 | 537 |
| SRCIN1 | CSK | P41240 | 528 |
| SRCIN1 | ARHGAP23 | Q9P227 | 489 |
| SRCIN1 | BUD13 | Q9BRD0 | 467 |
| SRCIN1 | CDC42BPB | Q9Y5S2 | 466 |
| SRCIN1 | SNIP1 | Q8TAD8 | 447 |
| SRCIN1 | ROCK1 | Q13464 | 427 |
| SRCIN1 | TTC36 | A6NLP5 | 422 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| NUFIP1 | PDE2A | psi-mi:“MI:0914”(association) | 0.530 |
| SRCIN1 | BCAR1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| BCAR1 | SRCIN1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| SRCIN1 | BCAR1 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| Bcar1 | SRCIN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SRCIN1 | SRC | psi-mi:“MI:0915”(physical association) | 0.400 |
| SRC | SRCIN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CSK | SRC | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP192 | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| ANK2 | IGKV2-40 | psi-mi:“MI:0914”(association) | 0.350 |
| SHANK3 | IGKV3D-15 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | KIF21B | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | IGLON5 | psi-mi:“MI:0914”(association) | 0.350 |
| MIF | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| KRT40 | ANKRD36 | psi-mi:“MI:0914”(association) | 0.350 |
| GPM6A | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| BRK1 | KIF5C | psi-mi:“MI:0914”(association) | 0.350 |
| BCAS4 | SNAPIN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (49): SRCIN1 (Affinity Capture-MS), SRCIN1 (Affinity Capture-MS), CKAP5 (Co-fractionation), SRCIN1 (Proximity Label-MS), SRCIN1 (Affinity Capture-MS), SRCIN1 (Affinity Capture-MS), SRCIN1 (Affinity Capture-RNA), SRCIN1 (Biochemical Activity), SRCIN1 (Affinity Capture-MS), SRCIN1 (Affinity Capture-MS), SRCIN1 (Affinity Capture-Western), BCAR1 (Affinity Capture-Western), CRK (Affinity Capture-Western), BCAR1 (Reconstituted Complex), CSK (Far Western)
ESM2 similar proteins: A0A8I3QA39, A1YB07, A2A6T1, A2A9T0, A2AHG0, A5PKL7, A6NKD9, A7MCY6, B8A5S6, D3ZD05, E1BEQ5, E1U8D0, E9Q6B2, F1MRK3, G3V735, O14529, O60299, O75145, O94964, P60469, Q1LZH7, Q3LUD4, Q3UIL6, Q499E4, Q5JTD0, Q5RCR6, Q5XIA0, Q62036, Q63ZY3, Q6DG50, Q6IQ23, Q6NZT2, Q6PDH0, Q86UU1, Q86X02, Q8BX02, Q8C7U1, Q8IY63, Q8K1Q4, Q8K371
Diamond homologs: A2AQ25, Q5T5P2, Q9C0H9, Q9QWI6, Q9QXY2, Q7PQ25
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ABL1 | unknown | SRCIN1 | phosphorylation |
| SRC | “up-regulates activity” | SRCIN1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
174 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 150 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5263 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:38543817:CCTCA:C | donor_loss | 1.0000 |
| 17:38543818:CTCA:C | donor_loss | 1.0000 |
| 17:38543819:TCA:T | donor_loss | 1.0000 |
| 17:38543820:CAC:C | donor_loss | 1.0000 |
| 17:38543821:ACCT:A | donor_loss | 1.0000 |
| 17:38548553:CTAC:C | donor_loss | 1.0000 |
| 17:38548555:A:AC | donor_gain | 1.0000 |
| 17:38548555:ACC:A | donor_loss | 1.0000 |
| 17:38548556:C:CC | donor_gain | 1.0000 |
| 17:38548556:CCT:C | donor_gain | 1.0000 |
| 17:38548705:GCCTT:G | acceptor_gain | 1.0000 |
| 17:38548706:CCTTC:C | acceptor_gain | 1.0000 |
| 17:38548707:CTT:C | acceptor_gain | 1.0000 |
| 17:38548708:TT:T | acceptor_gain | 1.0000 |
| 17:38548710:C:CC | acceptor_gain | 1.0000 |
| 17:38551895:CACAG:C | donor_gain | 1.0000 |
| 17:38551899:G:C | donor_gain | 1.0000 |
| 17:38552591:TGAG:T | acceptor_gain | 1.0000 |
| 17:38552592:GAG:G | acceptor_gain | 1.0000 |
| 17:38552592:GAGC:G | acceptor_loss | 1.0000 |
| 17:38552594:GCT:G | acceptor_loss | 1.0000 |
| 17:38552595:C:CC | acceptor_gain | 1.0000 |
| 17:38552723:A:AC | donor_gain | 1.0000 |
| 17:38552723:AC:A | donor_gain | 1.0000 |
| 17:38552723:ACC:A | donor_gain | 1.0000 |
| 17:38552724:C:CA | donor_gain | 1.0000 |
| 17:38552724:C:CC | donor_gain | 1.0000 |
| 17:38552724:CCC:C | donor_gain | 1.0000 |
| 17:38552851:GGTCA:G | acceptor_gain | 1.0000 |
| 17:38552853:TCA:T | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000079066 (17:38556794 C>A,G,T), RS1000101647 (17:38546266 G>T), RS1000123512 (17:38589195 C>T), RS1000139137 (17:38595272 C>A,T), RS1000180410 (17:38569758 A>G), RS1000188541 (17:38530379 C>A,T), RS1000250294 (17:38558787 G>A), RS1000263158 (17:38566864 C>T), RS1000325082 (17:38551493 G>A), RS1000365114 (17:38530192 G>A), RS1000377717 (17:38540933 T>G), RS1000386620 (17:38558452 A>C,T), RS1000426339 (17:38569493 G>A), RS1000436555 (17:38589570 T>C), RS1000504669 (17:38581153 T>A)
Disease associations
OMIM: gene MIM:610786 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009557_12 | Rate of ventricular enlargement | 9.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010570 | ventricular enlargement measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2150836 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases methylation | 4 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| dimethylselenide | increases expression, increases oxidation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| tanespimycin | increases expression, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| STA 9090 | increases expression | 1 |
| VER 155008 | affects cotreatment, increases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cocaine | decreases reaction, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Lead | affects expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2157707 | Binding | Inhibition of SrcN1 at 1 uM | Potent and selective inhibitors of PI3Kδ: obtaining isoform selectivity from the affinity pocket and tryptophan shelf. — Bioorg Med Chem Lett |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.