KPNA5
gene geneOn this page
Also known as SRP6IPOA6
Summary
KPNA5 (karyopherin subunit alpha 5, HGNC:6398) is a protein-coding gene on chromosome 6q22.1, encoding Importin subunit alpha-6 (O15131). Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1.
The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus.
Source: NCBI Gene 3841 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_001366306
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6398 |
| Approved symbol | KPNA5 |
| Name | karyopherin subunit alpha 5 |
| Location | 6q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SRP6, IPOA6 |
| Ensembl gene | ENSG00000196911 |
| Ensembl biotype | protein_coding |
| OMIM | 604545 |
| Entrez | 3841 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 nonsense_mediated_decay
ENST00000356348, ENST00000368564, ENST00000413340, ENST00000697696, ENST00000697697, ENST00000697698, ENST00000697699, ENST00000937497, ENST00000937498, ENST00000967749, ENST00000967750
RefSeq mRNA: 8 — MANE Select: NM_001366306
NM_001366304, NM_001366305, NM_001366306, NM_001366307, NM_001366308, NM_001366309, NM_001366310, NM_002269
CCDS: CCDS5111, CCDS93992, CCDS93993
Canonical transcript exons
ENST00000368564 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000762670 | 116702019 | 116702150 |
| ENSE00000762671 | 116705072 | 116705160 |
| ENSE00000762672 | 116716219 | 116716318 |
| ENSE00000762673 | 116722126 | 116722289 |
| ENSE00000762675 | 116725751 | 116725876 |
| ENSE00000762678 | 116729563 | 116729741 |
| ENSE00001888432 | 116726495 | 116726622 |
| ENSE00002360340 | 116724297 | 116724375 |
| ENSE00003609111 | 116689320 | 116689453 |
| ENSE00003971447 | 116698704 | 116698798 |
| ENSE00003971454 | 116692293 | 116692392 |
| ENSE00003971456 | 116732136 | 116741867 |
| ENSE00003971461 | 116692055 | 116692156 |
| ENSE00003971464 | 116681211 | 116681338 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 97.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8806 / max 401.9012, expressed in 1725 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 69439 | 14.3987 | 1719 |
| 69440 | 0.2889 | 152 |
| 69438 | 0.1929 | 77 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.87 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.34 | gold quality |
| pons | UBERON:0000988 | 92.75 | gold quality |
| tibia | UBERON:0000979 | 92.60 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.22 | gold quality |
| endothelial cell | CL:0000115 | 90.91 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 90.75 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.42 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.28 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.92 | gold quality |
| caput epididymis | UBERON:0004358 | 89.80 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.70 | gold quality |
| cortical plate | UBERON:0005343 | 89.66 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.60 | gold quality |
| parietal lobe | UBERON:0001872 | 89.34 | gold quality |
| upper leg skin | UBERON:0004262 | 88.95 | gold quality |
| biceps brachii | UBERON:0001507 | 88.83 | gold quality |
| visceral pleura | UBERON:0002401 | 88.63 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.45 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 88.33 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 87.88 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.87 | gold quality |
| skin of hip | UBERON:0001554 | 87.74 | gold quality |
| entorhinal cortex | UBERON:0002728 | 87.64 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.59 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 87.18 | gold quality |
| parietal pleura | UBERON:0002400 | 87.07 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 86.91 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 86.52 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 23.11 |
| E-MTAB-9221 | yes | 17.78 |
| E-ANND-3 | yes | 6.17 |
| E-GEOD-137537 | yes | 4.55 |
| E-GEOD-111727 | no | 1563.41 |
| E-MTAB-6379 | no | 727.59 |
| E-GEOD-83139 | no | 3.72 |
| E-MTAB-9801 | no | 2.99 |
| E-CURD-112 | no | 2.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting KPNA5, 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-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-6128 | 99.33 | 67.83 | 1581 |
| HSA-MIR-412-3P | 98.86 | 66.89 | 712 |
| HSA-MIR-6754-3P | 98.84 | 66.60 | 889 |
| HSA-MIR-605-5P | 98.79 | 68.24 | 1161 |
| HSA-MIR-548Q | 98.71 | 65.35 | 563 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-4450 | 98.26 | 68.35 | 725 |
| HSA-MIR-6072 | 98.00 | 66.47 | 804 |
| HSA-MIR-134-5P | 97.11 | 66.52 | 976 |
| HSA-MIR-3118 | 97.11 | 66.58 | 984 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-6891-3P | 95.80 | 65.76 | 683 |
Literature-anchored findings (GeneRIF, showing 4)
- Study identified the sequences KKKRR, KKKRK, and KKRKK as the optimal sequences for binding to this site for mouse importin-alpha2, human importin-alpha1, and human importin-alpha5, respectively. (PMID:20406804)
- eVP24 recognizes a unique nonclassical nuclear localization signal binding site on KPNA5 that is necessary for efficient phosphoryated STAT1 nuclear transport. (PMID:25121748)
- BIG3 may block the KPNAs (KPNA1, KPNA5, and KPNA6) binding region(s) of PHB2. (PMID:26052702)
- Data suggest that IGFBP5 nuclear import is mediated by KPNA5/KPNB1 complex; nuclear localization sequence of IGFBP5 is critical domain in this nuclear translocation. (IGFBP5 = insulin-like growth factor binding protein-5; KPNA5 = karyopherin subunit alpha-5; KPNB1 = karyopherin subunit beta-1/importin-beta) (PMID:28835592)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kpna5 | ENSDARG00000042030 |
| rattus_norvegicus | Kpna5 | ENSRNOG00000030109 |
| drosophila_melanogaster | Kap-alpha1 | FBGN0024889 |
Paralogs (6): KPNA6 (ENSG00000025800), KPNA3 (ENSG00000102753), KPNA1 (ENSG00000114030), KPNA2 (ENSG00000182481), KPNA7 (ENSG00000185467), KPNA4 (ENSG00000186432)
Protein
Protein identifiers
Importin subunit alpha-6 — O15131 (reviewed: O15131)
Alternative names: Karyopherin subunit alpha-5
All UniProt accessions (6): A0A8V8TL68, A0A8V8TL88, A0A8V8TLL2, A0A8V8TMV2, O15131, Q5TD90
UniProt curated annotations — full annotation on UniProt →
Function. Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates nuclear import of STAT1 homodimers and STAT1/STAT2 heterodimers by recognizing non-classical NLSs of STAT1 and STAT2 through ARM repeats 8-9. Recognizes influenza A virus nucleoprotein through ARM repeat 7-9 In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS.
Subunit / interactions. Forms a complex with importin subunit beta-1. (Microbial infection) Interacts with ebolavirus protein VP24.
Subcellular location. Cytoplasm.
Tissue specificity. Testis.
Domain organisation. Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import. The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS-containing proteins. The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding.
Similarity. Belongs to the importin alpha family.
RefSeq proteins (8): NP_001353233, NP_001353234, NP_001353235, NP_001353236, NP_001353237, NP_001353238, NP_001353239, NP_002260 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000225 | Armadillo | Repeat |
| IPR002652 | Importin-a_IBB | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR024931 | Importin_alpha | Family |
| IPR032413 | Arm_3 | Repeat |
| IPR036975 | Importin-a_IBB_sf | Homologous_superfamily |
Pfam: PF00514, PF01749, PF16186
UniProt features (33 total): helix 12, repeat 10, region of interest 3, sequence variant 2, sequence conflict 2, chain 1, domain 1, short sequence motif 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4U2X | X-RAY DIFFRACTION | 3.15 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15131-F1 | 85.53 | 0.75 |
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-1169408 | ISG15 antiviral mechanism |
| R-HSA-168276 | NS1 Mediated Effects on Host Pathways |
| R-HSA-9918432 | Maturation of DENV proteins |
| R-HSA-1169410 | Antimicrobial mechanism of IFN-stimulated genes |
| R-HSA-1280215 | Cytokine Signaling in Immune system |
| R-HSA-1643685 | Disease |
| R-HSA-168255 | Influenza Infection |
| R-HSA-168256 | Immune System |
| R-HSA-5663205 | Infectious disease |
| R-HSA-913531 | Interferon Signaling |
| R-HSA-9824446 | Viral Infection Pathways |
MSigDB gene sets: 92 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, BROWNE_HCMV_INFECTION_8HR_UP, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_TRANSPORT, KOYAMA_SEMA3B_TARGETS_UP, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, DOUGLAS_BMI1_TARGETS_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NLS_BEARING_PROTEIN_IMPORT_INTO_NUCLEUS, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, GOMF_SIGNAL_SEQUENCE_BINDING
GO Biological Process (3): protein import into nucleus (GO:0006606), NLS-bearing protein import into nucleus (GO:0006607), protein transport (GO:0015031)
GO Molecular Function (3): nuclear localization sequence binding (GO:0008139), nuclear import signal receptor activity (GO:0061608), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), NLS-dependent protein nuclear import complex (GO:0042564), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Antimicrobial mechanism of IFN-stimulated genes | 1 |
| Influenza Infection | 1 |
| Dengue Virus Genome Translation and Replication | 1 |
| Interferon Signaling | 1 |
| Immune System | 1 |
| Viral Infection Pathways | 1 |
| Disease | 1 |
| Cytokine Signaling in Immune system | 1 |
| Infectious disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| import into nucleus | 2 |
| intracellular protein transport | 1 |
| protein localization to nucleus | 1 |
| establishment of protein localization to organelle | 1 |
| protein import into nucleus | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| signal sequence receptor activity | 1 |
| nucleocytoplasmic carrier activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nucleocytoplasmic transport complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2200 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KPNA5 | KPNB1 | Q14974 | 887 |
| KPNA5 | NUP153 | P49790 | 771 |
| KPNA5 | STAT1 | P42224 | 612 |
| KPNA5 | IPO4 | Q8TEX9 | 540 |
| KPNA5 | TNPO1 | Q92973 | 520 |
| KPNA5 | RCC1 | P18754 | 516 |
| KPNA5 | TNPO2 | O14787 | 506 |
| KPNA5 | CSE1L | P55060 | 480 |
| KPNA5 | IPO5 | O00410 | 475 |
| KPNA5 | IPO11 | Q9UI26 | 474 |
| KPNA5 | IPO7 | O95373 | 473 |
| KPNA5 | IPO13 | O94829 | 470 |
| KPNA5 | IPO9 | Q96P70 | 445 |
| KPNA5 | CAPN2 | P17655 | 441 |
| KPNA5 | XPO1 | O14980 | 437 |
IntAct
118 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KPNA5 | NUP50 | psi-mi:“MI:0915”(physical association) | 0.830 |
| NUP50 | KPNA5 | psi-mi:“MI:0915”(physical association) | 0.830 |
| NUP50 | KPNA4 | psi-mi:“MI:0914”(association) | 0.830 |
| KPNA5 | ANP32B | psi-mi:“MI:0915”(physical association) | 0.780 |
| ANP32B | KPNA5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NUP50 | KPNA3 | psi-mi:“MI:0914”(association) | 0.780 |
| SPOPL | KPNA5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| KPNA5 | SPOPL | psi-mi:“MI:0915”(physical association) | 0.740 |
| CDKN1B | KPNA5 | psi-mi:“MI:0914”(association) | 0.720 |
| CDKN1B | KPNA5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KPNA5 | CDKN1B | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| ORF4b | KPNA3 | psi-mi:“MI:0914”(association) | 0.620 |
| CDKN1B | KPNA3 | psi-mi:“MI:0915”(physical association) | 0.580 |
| KPNA5 | POLR3C | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPNA5 | NMNAT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPNA5 | RAD52 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (116): KPNA5 (Two-hybrid), ANP32B (Two-hybrid), NUP50 (Two-hybrid), SPOPL (Two-hybrid), KPNA5 (Affinity Capture-RNA), KPNA5 (Affinity Capture-RNA), KPNA5 (Affinity Capture-MS), KPNA5 (Affinity Capture-MS), KPNA5 (Affinity Capture-MS), KPNA5 (Co-fractionation), KPNA5 (Co-fractionation), KPNA5 (Co-fractionation), KPNA5 (Co-fractionation), KPNA5 (Two-hybrid), KPNA5 (Affinity Capture-MS)
ESM2 similar proteins: A2VE08, A7Y521, E1C6Q1, O15131, O35116, O35142, O35345, O55029, O60684, O70133, O88544, O94973, P17427, P18484, P26233, P35605, P35606, P52294, P52297, P70188, P83953, Q08211, Q0V7M0, Q0VCK5, Q13098, Q28141, Q3SZA0, Q4R5E6, Q503E9, Q56R16, Q5F418, Q5R648, Q5R664, Q5R874, Q5R909, Q5RBV0, Q5ZHN3, Q5ZML1, Q60960, Q68FK8
Diamond homologs: A2VE08, A9QM74, B6HJ92, C0LLJ0, C1JZ66, C6K7I2, F4JL11, G5EB89, O00505, O00629, O04294, O14063, O15131, O22478, O35343, O35344, O35345, O60684, O80480, O94374, P52170, P52171, P52292, P52293, P52294, P52295, P83953, P91276, Q02821, Q0V7M0, Q19969, Q503E9, Q557F4, Q56R16, Q5R909, Q5RBV0, Q5ZML1, Q60960, Q71VM4, Q76P29
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| NS1 Mediated Effects on Host Pathways | 6 | 45.1× | 1e-06 |
| ISG15 antiviral mechanism | 6 | 23.7× | 3e-05 |
| Metabolism of RNA | 6 | 6.6× | 6e-03 |
| Cytokine Signaling in Immune system | 6 | 6.4× | 6e-03 |
| Cell Cycle | 6 | 5.7× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein import into nucleus | 7 | 21.0× | 2e-05 |
| regulation of apoptotic process | 8 | 13.9× | 2e-05 |
| RNA splicing | 7 | 12.9× | 1e-04 |
| mRNA processing | 6 | 9.8× | 2e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 7 | 7.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2334 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:116681337:GG:G | donor_gain | 1.0000 |
| 6:116681338:GG:G | donor_gain | 1.0000 |
| 6:116681339:G:GG | donor_gain | 1.0000 |
| 6:116682992:A:AG | donor_gain | 1.0000 |
| 6:116689315:TTAA:T | acceptor_loss | 1.0000 |
| 6:116689316:TAA:T | acceptor_loss | 1.0000 |
| 6:116689317:A:AG | acceptor_gain | 1.0000 |
| 6:116689317:AAGAT:A | acceptor_gain | 1.0000 |
| 6:116689318:A:C | acceptor_loss | 1.0000 |
| 6:116689318:A:G | acceptor_gain | 1.0000 |
| 6:116689318:AGAT:A | acceptor_gain | 1.0000 |
| 6:116689319:G:GA | acceptor_gain | 1.0000 |
| 6:116689319:GAT:G | acceptor_gain | 1.0000 |
| 6:116689319:GATG:G | acceptor_gain | 1.0000 |
| 6:116689449:AACAG:A | donor_gain | 1.0000 |
| 6:116689450:ACAG:A | donor_gain | 1.0000 |
| 6:116689451:CAG:C | donor_gain | 1.0000 |
| 6:116689452:AG:A | donor_gain | 1.0000 |
| 6:116689452:AGGTA:A | donor_loss | 1.0000 |
| 6:116689453:GG:G | donor_gain | 1.0000 |
| 6:116689454:G:GG | donor_gain | 1.0000 |
| 6:116689454:GTA:G | donor_loss | 1.0000 |
| 6:116692053:A:AG | acceptor_gain | 1.0000 |
| 6:116692054:G:GG | acceptor_gain | 1.0000 |
| 6:116692054:GTT:G | acceptor_gain | 1.0000 |
| 6:116692154:GAG:G | donor_gain | 1.0000 |
| 6:116692286:GTTTT:G | acceptor_loss | 1.0000 |
| 6:116692287:TTTTA:T | acceptor_loss | 1.0000 |
| 6:116692288:TTTA:T | acceptor_loss | 1.0000 |
| 6:116692289:TTAGG:T | acceptor_loss | 1.0000 |
AlphaMissense
3567 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000015104 (6:116730286 C>T), RS1000032614 (6:116718759 A>G), RS1000075617 (6:116716392 T>C), RS1000184899 (6:116715339 T>C), RS1000217661 (6:116703118 A>G), RS1000258892 (6:116679861 A>G), RS1000323134 (6:116709567 A>G), RS1000336771 (6:116737071 T>C), RS1000360917 (6:116709551 C>A), RS1000446896 (6:116703332 G>A), RS1000480008 (6:116703424 G>A,T), RS1000652410 (6:116709807 C>T), RS1000677750 (6:116741256 G>A), RS1000679012 (6:116698068 G>A), RS1000748021 (6:116696014 T>G)
Disease associations
OMIM: gene MIM:604545 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001024_3 | Telomere length | 3.000000e-06 |
| GCST008991_7 | Early cardiac repolarization | 6.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004885 | early cardiac repolarization measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 6 |
| bisphenol A | increases expression, affects expression, affects methylation, affects cotreatment | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | 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.