SPDYA
gene geneOn this page
Also known as SPY1Ringo3
Summary
SPDYA (speedy/RINGO cell cycle regulator family member A, HGNC:30613) is a protein-coding gene on chromosome 2p23.2, encoding Speedy protein A (Q5MJ70). Regulates the G1/S phase transition of the cell cycle by binding and activating CDK1 and CDK2.
Enables protein kinase activator activity and protein kinase binding activity. Involved in several processes, including G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity. Located in nucleoplasm.
Source: NCBI Gene 245711 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 36 total
- MANE Select transcript:
NM_182756
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30613 |
| Approved symbol | SPDYA |
| Name | speedy/RINGO cell cycle regulator family member A |
| Location | 2p23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPY1, Ringo3 |
| Ensembl gene | ENSG00000163806 |
| Ensembl biotype | protein_coding |
| OMIM | 614029 |
| Entrez | 245711 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000334056, ENST00000379579, ENST00000439646, ENST00000449210, ENST00000462832, ENST00000467226, ENST00000491044
RefSeq mRNA: 3 — MANE Select: NM_182756
NM_001008779, NM_001142634, NM_182756
CCDS: CCDS1767
Canonical transcript exons
ENST00000334056 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001341738 | 28814613 | 28814686 |
| ENSE00001859779 | 28810834 | 28810947 |
| ENSE00003474611 | 28819048 | 28819106 |
| ENSE00003513741 | 28829148 | 28829319 |
| ENSE00003555071 | 28815997 | 28816249 |
| ENSE00003586086 | 28822325 | 28822410 |
| ENSE00003627724 | 28840172 | 28840469 |
| ENSE00003847113 | 28849850 | 28850610 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 91.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.8500 / max 1113.5447, expressed in 1796 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 19485 | 45.8500 | 1796 |
| 19499 | 0.3656 | 63 |
| 19488 | 0.0603 | 11 |
| 19498 | 0.0173 | 4 |
| 202136 | 0.0074 | 3 |
| 202135 | 0.0071 | 4 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 91.99 | gold quality |
| right testis | UBERON:0004534 | 91.93 | gold quality |
| testis | UBERON:0000473 | 89.32 | gold quality |
| sperm | CL:0000019 | 87.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.12 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.44 | gold quality |
| adult organism | UBERON:0007023 | 77.31 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 76.91 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.46 | gold quality |
| left ovary | UBERON:0002119 | 69.89 | gold quality |
| granulocyte | CL:0000094 | 69.78 | gold quality |
| right ovary | UBERON:0002118 | 69.60 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 69.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 68.97 | gold quality |
| cerebellar cortex | UBERON:0002129 | 68.87 | gold quality |
| monocyte | CL:0000576 | 68.78 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 68.69 | gold quality |
| endocervix | UBERON:0000458 | 68.30 | gold quality |
| leukocyte | CL:0000738 | 68.25 | gold quality |
| ascending aorta | UBERON:0001496 | 68.19 | gold quality |
| thoracic aorta | UBERON:0001515 | 67.95 | gold quality |
| body of uterus | UBERON:0009853 | 67.68 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 67.56 | gold quality |
| aorta | UBERON:0000947 | 67.22 | gold quality |
| adrenal tissue | UBERON:0018303 | 67.19 | gold quality |
| right lobe of liver | UBERON:0001114 | 66.97 | gold quality |
| popliteal artery | UBERON:0002250 | 66.94 | gold quality |
| tibial artery | UBERON:0007610 | 66.93 | gold quality |
| cerebellum | UBERON:0002037 | 66.79 | gold quality |
| tibial nerve | UBERON:0001323 | 66.47 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 106.28 |
| E-ANND-3 | no | 2.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
37 targeting SPDYA, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-21-5P | 99.46 | 70.54 | 1035 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-590-5P | 99.25 | 70.76 | 930 |
| HSA-MIR-6830-5P | 99.01 | 68.73 | 1884 |
| HSA-MIR-487A-5P | 98.85 | 69.37 | 993 |
| HSA-MIR-487B-5P | 98.85 | 69.48 | 987 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
| HSA-MIR-2115-5P | 98.66 | 68.07 | 1191 |
Literature-anchored findings (GeneRIF, showing 19)
- This protein mediates protection of mammalian cells against DNA damage. (PMID:12839962)
- This study reports that Spy1 expression allows cells to evade checkpoints and apoptosis and suggest that Spy1 regulation of CDK2 is important for the response to DNA damage. (PMID:16951407)
- Spy1 expression enhances CDK2-dependent p27 degradation during late G1 and throughout S-phase (PMID:17671428)
- Spy1 fulfills a novel regulatory role in the intrinsic DNA damage response and maintains the balance between checkpoint activation, apoptosis, repair and cell cycle progression in response to exogenous or intrinsic damage. (PMID:19106603)
- Data show that tight regulation of RINGO/Speedy A is important for the somatic cell cycle. (PMID:19622356)
- Spy1 overexpression is involved in the pathogenesis of hepatocellular carcinoma, it may be a favorable independent poor prognostic parameter for hepatocellular carcinoma. (PMID:19686732)
- Spy1 expression positively correlates with the malignancy of gliomas. (PMID:22447439)
- Our results suggest that Spy1 may be a possible prognostic indicator in NHLs, and it was correlated with phosphorylation of p27(Kip1) on Thr187 (PMID:22492278)
- Cell adhesion to fibronectin down-regulates the expression of Spy1 and contributes to drug resistance in multiple myeloma cells. (PMID:24037419)
- we demonstrate that the atypical cyclin-like protein Spy1 plays a role in balancing the division properties of glioma cells with stemness properties (PMID:24434210)
- CRMP1 interacted with Spy1 which would disturb the association of CRMP1 with actin and was involved in the collapse of growth cones induced by Sema3A and regeneration after sciatic nerve crush. (PMID:25526860)
- A novel Spy1-CLIPR-59 interplay was identified in glioblastoma resistance to TNF-alpha. (PMID:26017671)
- Spy1 participates in the proliferation and apoptosis of epithelial ovarian cancer. (PMID:26644004)
- Authors demonstrate that mammalian Spy1-mediated ERK activation increases ligand-independent phosphorylation and activation of estrogen receptor alpha, correlating with a decrease in tamoxifen sensitivity. (PMID:28423577)
- The authors find that Spy1 confers structural changes to Cdk2 that obviate the requirement of Cdk activation loop phosphorylation. (PMID:28666995)
- This mouse model demonstrates for the first time that degradation of the cyclin-like protein Spy1 is an essential component of p53-mediated tumour suppression. Targeting cyclin-like protein activity may therefore represent a mechanism of re-sensitizing cells to important cell cycle checkpoints in a therapeutic setting. (PMID:31829284)
- Speedy/RINGO protein interacts with ERK/MAPK and PI3K/AKT pathways in SH-SY5Y neuroblastoma cells. (PMID:32602013)
- Salicylidene acylhydrazides attenuate survival of SH-SY5Y neuroblastoma cells through affecting mitotic regulator Speedy/RINGO and ERK/MAPK-PI3K/AKT signaling. (PMID:32691165)
- The SUN1-SPDYA interaction plays an essential role in meiosis prophase I. (PMID:34039995)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spdya | ENSDARG00000059131 |
| mus_musculus | Spdya | ENSMUSG00000052525 |
| rattus_norvegicus | Spdya | ENSRNOG00000004534 |
Paralogs (1): SPDYC (ENSG00000204710)
Protein
Protein identifiers
Speedy protein A — Q5MJ70 (reviewed: Q5MJ70)
Alternative names: Rapid inducer of G2/M progression in oocytes A, Speedy-1
All UniProt accessions (4): A0A384MTT5, E7EPV1, Q5MJ70, H7C0J1
UniProt curated annotations — full annotation on UniProt →
Function. Regulates the G1/S phase transition of the cell cycle by binding and activating CDK1 and CDK2. Contributes to CDK2 activation without promoting CDK2 phosphorylation, by inducing a conformation change of the CDK2 T-loop that obstructs the substrate-binding cleft prior to kinase activation. Mediates cell survival during the DNA damage process through activation of CDK2.
Subunit / interactions. Interacts with CDK1. Interacts with CDK2. May interact with CDKN1B/KIP1. Identified in a complex with CDK2 and CDKN1B/KIP1, where it interacts primarily with CDK2.
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in testis. Expressed at a low level in wide range of tissues including bone marrow, brain, heart, kidney, colon, liver, placenta, spleen, skeletal muscle, salivary gland, thyroid gland, thymus, trachea and uterus. Expressed at a slightly higher level in adrenal gland, cerebellum, small intestine, lung, prostate and trachea. Expression is cell cycle-dependent, being restricted to cells in G1/S phase.
Domain organisation. The C-terminus is required for CDK2-activation, but not CDK2-binding.
Similarity. Belongs to the Speedy/Ringo family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5MJ70-2 | 2, A2 | yes |
| Q5MJ70-1 | 1, A1 |
RefSeq proteins (3): NP_001008779, NP_001136106, NP_877433* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR020984 | Speedy | Family |
| IPR052316 | Speedy-Ringo_regulator | Family |
Pfam: PF11357
UniProt features (26 total): helix 13, strand 3, region of interest 2, modified residue 2, splice variant 2, mutagenesis site 2, chain 1, turn 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5UQ2 | X-RAY DIFFRACTION | 2.7 |
| 7E34 | X-RAY DIFFRACTION | 3.19 |
| 5UQ1 | X-RAY DIFFRACTION | 3.2 |
| 5UQ3 | X-RAY DIFFRACTION | 3.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5MJ70-F1 | 69.25 | 0.42 |
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 (2): 222, 224
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 97 | loss of cdk2 activation; when associated with q-135. |
| 135 | loss of cdk2 activation; when associated with n-97. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 100 (showing top):
GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_TELOMERE_CAPPING, GOBP_CHROMOSOME_LOCALIZATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_OOGENESIS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_TELOMERE_ORGANIZATION, GOBP_MALE_GAMETE_GENERATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOBP_ORGANELLE_FISSION, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_DNA_DAMAGE_RESPONSE
GO Biological Process (11): G1/S transition of mitotic cell cycle (GO:0000082), DNA damage response (GO:0006974), male meiotic nuclear division (GO:0007140), spermatogenesis (GO:0007283), positive regulation of cell population proliferation (GO:0008284), telomere capping (GO:0016233), oogenesis (GO:0048477), meiotic attachment of telomere to nuclear envelope (GO:0070197), establishment of protein localization to telomere (GO:0070200), positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737), positive regulation of protein kinase activity (GO:0045860)
GO Molecular Function (3): protein kinase binding (GO:0019901), protein kinase activator activity (GO:0030295), protein binding (GO:0005515)
GO Cellular Component (5): chromosome, telomeric region (GO:0000781), XY body (GO:0001741), nucleus (GO:0005634), nuclear envelope (GO:0005635), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| male gamete generation | 2 |
| protein kinase activity | 2 |
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G1/S phase transition | 1 |
| cellular response to stress | 1 |
| meiotic cell cycle | 1 |
| meiotic nuclear division | 1 |
| developmental process involved in reproduction | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| telomere maintenance | 1 |
| germ cell development | 1 |
| female gamete generation | 1 |
| meiotic telomere tethering at nuclear periphery | 1 |
| chromosome attachment to the nuclear envelope | 1 |
| meiotic cell cycle process | 1 |
| establishment of protein localization to chromosome | 1 |
| regulation of cyclin-dependent protein serine/threonine kinase activity | 1 |
| cyclin-dependent protein serine/threonine kinase activity | 1 |
| positive regulation of cell cycle | 1 |
| positive regulation of protein serine/threonine kinase activity | 1 |
| positive regulation of cyclin-dependent protein kinase activity | 1 |
| positive regulation of protein phosphorylation | 1 |
| positive regulation of kinase activity | 1 |
| regulation of protein kinase activity | 1 |
| kinase binding | 1 |
| kinase activator activity | 1 |
| protein kinase regulator activity | 1 |
| binding | 1 |
| chromosomal region | 1 |
| sex chromosome | 1 |
| condensed chromatin of inactivated sex chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleus | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
518 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPDYA | TERB2 | Q8NHR7 | 750 |
| SPDYA | TERB1 | Q8NA31 | 728 |
| SPDYA | CDK2 | P24941 | 636 |
| SPDYA | SUN1 | O94901 | 601 |
| SPDYA | CDKN1B | P46527 | 591 |
| SPDYA | H0YEC1 | H0YEC1 | 510 |
| SPDYA | CDK1 | P06493 | 509 |
| SPDYA | KHDRBS3 | O75525 | 454 |
| SPDYA | TERF1 | P54274 | 436 |
| SPDYA | ERBB2 | P04626 | 393 |
| SPDYA | KASH5 | Q8N6L0 | 378 |
| SPDYA | NUTM2D | Q5VT03 | 321 |
| SPDYA | MEIOB | Q8N635 | 311 |
| SPDYA | SYCP1 | Q15431 | 295 |
| SPDYA | NUP210L | Q5VU65 | 294 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AQP1 | SPDYA | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDKN1B | SPDYA | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDK5 | SPDYA | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDK16 | SPDYA | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBC | SPDYA | psi-mi:“MI:0914”(association) | 0.350 |
| SPDYA | SKP2 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP2 | SPDYA | psi-mi:“MI:0914”(association) | 0.350 |
| AQP1 | SPDYA | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDKN1B | SPDYA | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDK5 | SPDYA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): SPDYA (Affinity Capture-Western), CLIP3 (Affinity Capture-Western), SPDYA (Affinity Capture-RNA), SPDYA (Biochemical Activity), Cdkn1b (Two-hybrid), Cdkn1b (Affinity Capture-Western), CDKN1B (Reconstituted Complex), SPDYA (Reconstituted Complex), SPDYA (Affinity Capture-Western), SPDYA (Affinity Capture-Western), SPDYA (Two-hybrid), CDK5 (Two-hybrid), AQP1 (Two-hybrid), SPDYA (Affinity Capture-RNA), CDK1 (Affinity Capture-Western)
ESM2 similar proteins: A0A494C086, A0A494C0Z2, A0A494C191, A0JPH4, A6NHP3, A6NIY4, A6NJR5, A6NLX3, A6NNV3, A6QLI5, B0BNE4, O08918, O60543, O70302, O75916, P0CI01, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, P24864, P39949, P49805, Q12967, Q495Y7, Q495Y8, Q4VXA5, Q4ZIN3, Q5IBH6, Q5IBH7, Q5MJ70, Q5SYB0, Q5XIQ2, Q5ZJR9, Q61457, Q6AYG1
Diamond homologs: A0A494C086, A0A494C0Z2, A0A494C191, A6NHP3, A6NIY4, A6NJR5, A6NKU9, A6NLX3, A6NNV3, P0CI01, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, Q495Y7, Q495Y8, Q5IBH6, Q5IBH7, Q5MJ68, Q5MJ70, Q8NFV5, Q8R496, Q9PU13, Q9YGL1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SUN1 | “up-regulates activity” | SPDYA | binding |
| SPDYA | “up-regulates activity” | CDK2 | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1951 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:28783899:A:AG | acceptor_gain | 1.0000 |
| 2:28783900:T:G | acceptor_gain | 1.0000 |
| 2:28783902:TATA:T | acceptor_loss | 1.0000 |
| 2:28783903:ATAG:A | acceptor_gain | 1.0000 |
| 2:28783904:TA:T | acceptor_loss | 1.0000 |
| 2:28783905:A:AG | acceptor_gain | 1.0000 |
| 2:28783905:AG:A | acceptor_gain | 1.0000 |
| 2:28783905:AGG:A | acceptor_loss | 1.0000 |
| 2:28783906:G:GT | acceptor_gain | 1.0000 |
| 2:28783906:GG:G | acceptor_gain | 1.0000 |
| 2:28783906:GGA:G | acceptor_gain | 1.0000 |
| 2:28783906:GGAT:G | acceptor_gain | 1.0000 |
| 2:28783906:GGATT:G | acceptor_gain | 1.0000 |
| 2:28783974:TACAG:T | donor_gain | 1.0000 |
| 2:28783975:ACAG:A | donor_gain | 1.0000 |
| 2:28783975:ACAGG:A | donor_loss | 1.0000 |
| 2:28783976:CAG:C | donor_gain | 1.0000 |
| 2:28783976:CAGGT:C | donor_loss | 1.0000 |
| 2:28783977:AG:A | donor_gain | 1.0000 |
| 2:28783977:AGG:A | donor_loss | 1.0000 |
| 2:28783978:GG:G | donor_gain | 1.0000 |
| 2:28783979:G:GA | donor_loss | 1.0000 |
| 2:28783979:G:GG | donor_gain | 1.0000 |
| 2:28788653:TAAA:T | acceptor_loss | 1.0000 |
| 2:28788656:A:AC | acceptor_loss | 1.0000 |
| 2:28788755:AGTC:A | donor_gain | 1.0000 |
| 2:28793857:TGACA:T | acceptor_loss | 1.0000 |
| 2:28793858:GACA:G | acceptor_loss | 1.0000 |
| 2:28793859:ACAGG:A | acceptor_loss | 1.0000 |
| 2:28793860:CA:C | acceptor_loss | 1.0000 |
AlphaMissense
2079 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:28840202:T:A | W195R | 1.000 |
| 2:28840202:T:C | W195R | 1.000 |
| 2:28829153:T:C | L129P | 0.999 |
| 2:28829156:C:A | A130D | 0.999 |
| 2:28829206:T:A | W147R | 0.999 |
| 2:28829206:T:C | W147R | 0.999 |
| 2:28829208:G:C | W147C | 0.999 |
| 2:28829208:G:T | W147C | 0.999 |
| 2:28829267:T:C | L167P | 0.999 |
| 2:28840204:G:C | W195C | 0.999 |
| 2:28840204:G:T | W195C | 0.999 |
| 2:28840210:A:C | R197S | 0.999 |
| 2:28840210:A:T | R197S | 0.999 |
| 2:28819080:G:C | D90H | 0.998 |
| 2:28819102:A:T | D97V | 0.998 |
| 2:28822335:C:A | A102D | 0.998 |
| 2:28822360:G:C | R110S | 0.998 |
| 2:28822360:G:T | R110S | 0.998 |
| 2:28822407:C:A | A126D | 0.998 |
| 2:28822410:T:C | L127P | 0.998 |
| 2:28829201:T:C | F145S | 0.998 |
| 2:28829224:T:A | W153R | 0.998 |
| 2:28829224:T:C | W153R | 0.998 |
| 2:28829246:T:C | F160S | 0.998 |
| 2:28829259:G:C | R164S | 0.998 |
| 2:28829259:G:T | R164S | 0.998 |
| 2:28829269:T:A | W168R | 0.998 |
| 2:28829269:T:C | W168R | 0.998 |
| 2:28840209:G:C | R197T | 0.998 |
| 2:28840214:C:A | R199S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000034166 (2:28822255 A>G), RS1000096406 (2:28826071 G>A), RS1000121486 (2:28830039 T>C), RS1000239799 (2:28810701 G>C,T), RS1000311080 (2:28846203 G>A), RS1000328592 (2:28811587 C>A,T), RS1000416587 (2:28838782 G>A), RS1000547338 (2:28832314 C>A,T), RS1000572239 (2:28810937 G>A,C), RS1000637300 (2:28817078 A>C), RS1000789600 (2:28846340 G>A), RS1000861126 (2:28816672 C>G), RS1000872430 (2:28817090 A>G), RS1000985909 (2:28824483 A>C), RS1001120958 (2:28824765 G>A)
Disease associations
OMIM: gene MIM:614029 | 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 |
|---|---|---|
| GCST007656_7 | Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) | 9.000000e-12 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs12474420 | SPDYA | 0.00 | 0 |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Malathion | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Acrylamide | increases expression | 1 |
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.