AP3M2
gene geneOn this page
Also known as CLA20AP47B
Summary
AP3M2 (adaptor related protein complex 3 subunit mu 2, HGNC:570) is a protein-coding gene on chromosome 8p11.21, encoding AP-3 complex subunit mu-2 (P53677). Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated.
This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Source: NCBI Gene 10947 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 62 total — 1 pathogenic
- MANE Select transcript:
NM_006803
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:570 |
| Approved symbol | AP3M2 |
| Name | adaptor related protein complex 3 subunit mu 2 |
| Location | 8p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CLA20, AP47B |
| Ensembl gene | ENSG00000070718 |
| Ensembl biotype | protein_coding |
| OMIM | 610469 |
| Entrez | 10947 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 12 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000396926, ENST00000517499, ENST00000517865, ENST00000517922, ENST00000517969, ENST00000518421, ENST00000520685, ENST00000520689, ENST00000521235, ENST00000521280, ENST00000521899, ENST00000522288, ENST00000522320, ENST00000522606, ENST00000523249, ENST00000530375, ENST00000858465, ENST00000913686, ENST00000913687, ENST00000943124
RefSeq mRNA: 2 — MANE Select: NM_006803
NM_001134296, NM_006803
CCDS: CCDS6125
Canonical transcript exons
ENST00000396926 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001192655 | 42167164 | 42167371 |
| ENSE00001192674 | 42154616 | 42154960 |
| ENSE00001526776 | 42168961 | 42171183 |
| ENSE00002098792 | 42153063 | 42153105 |
| ENSE00003473813 | 42165427 | 42165560 |
| ENSE00003482889 | 42165071 | 42165156 |
| ENSE00003513595 | 42162281 | 42162418 |
| ENSE00003515576 | 42167666 | 42167810 |
| ENSE00003590579 | 42157941 | 42158112 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 97.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7001 / max 132.9119, expressed in 1753 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88671 | 13.6581 | 1752 |
| 88672 | 0.0420 | 14 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 97.60 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.16 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.97 | gold quality |
| secondary oocyte | CL:0000655 | 94.47 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 94.21 | gold quality |
| frontal pole | UBERON:0002795 | 93.67 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.93 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 92.75 | gold quality |
| cranial nerve II | UBERON:0000941 | 92.65 | gold quality |
| oocyte | CL:0000023 | 92.19 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.01 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 92.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.86 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.77 | gold quality |
| frontal cortex | UBERON:0001870 | 91.60 | gold quality |
| frontal lobe | UBERON:0016525 | 91.60 | gold quality |
| neocortex | UBERON:0001950 | 91.33 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.23 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 91.16 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.79 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.74 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.57 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.56 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.54 | gold quality |
| pons | UBERON:0000988 | 90.53 | gold quality |
| cortical plate | UBERON:0005343 | 90.25 | gold quality |
| hypothalamus | UBERON:0001898 | 90.19 | gold quality |
| entorhinal cortex | UBERON:0002728 | 90.16 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 89.94 | gold quality |
| telencephalon | UBERON:0001893 | 89.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.51 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting AP3M2, 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-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
Literature-anchored findings (GeneRIF, showing 1)
- some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission (PMID:17293072)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ap3m2 | ENSDARG00000016128 |
| mus_musculus | Ap3m2 | ENSMUSG00000031539 |
| rattus_norvegicus | Ap3m2 | ENSRNOG00000018650 |
| drosophila_melanogaster | cm | FBGN0000330 |
Paralogs (7): AP1M1 (ENSG00000072958), AP1M2 (ENSG00000129354), STON2 (ENSG00000140022), AP2M1 (ENSG00000161203), AP3M1 (ENSG00000185009), AP4M1 (ENSG00000221838), STON1 (ENSG00000243244)
Protein
Protein identifiers
AP-3 complex subunit mu-2 — P53677 (reviewed: P53677)
Alternative names: Adaptor-related protein complex 3 subunit mu-2, Clathrin assembly protein assembly protein complex 3 mu-2 medium chain, Clathrin coat assembly protein AP47 homolog 2, Clathrin coat-associated protein AP47 homolog 2, Golgi adaptor AP-1 47 kDa protein homolog 2, HA1 47 kDa subunit homolog 2, Mu3B-adaptin, P47B
All UniProt accessions (10): P53677, A0A1D5RMS9, A0A384NYL6, E5RGF3, E5RI83, E5RJ52, E7ER80, H0YAY4, H0YBA0, H0YBM0
UniProt curated annotations — full annotation on UniProt →
Function. Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.
Subunit / interactions. AP-3 associates with the BLOC-1 complex. Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2).
Subcellular location. Golgi apparatus. Cytoplasmic vesicle membrane.
Similarity. Belongs to the adaptor complexes medium subunit family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P53677-1 | 1 | yes |
| P53677-2 | 2 |
RefSeq proteins (2): NP_001127768, NP_006794* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001392 | Clathrin_mu | Family |
| IPR011012 | Longin-like_dom_sf | Homologous_superfamily |
| IPR018240 | Clathrin_mu_CS | Conserved_site |
| IPR022775 | AP_mu_sigma_su | Domain |
| IPR028565 | MHD | Domain |
| IPR036168 | AP2_Mu_C_sf | Homologous_superfamily |
| IPR050431 | Adaptor_comp_med_subunit | Family |
Pfam: PF00928, PF01217
UniProt features (4 total): splice variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P53677-F1 | 93.07 | 0.82 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 303 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, FISCHER_G1_S_CELL_CYCLE, GOBP_VESICLE_ORGANIZATION, GOBP_SYNAPTIC_VESICLE_CYTOSKELETAL_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_VACUOLAR_TRANSPORT, KEGG_LYSOSOME, GOBP_VESICLE_MEDIATED_TRANSPORT
GO Biological Process (10): intracellular protein transport (GO:0006886), endocytosis (GO:0006897), anterograde axonal transport (GO:0008089), synaptic vesicle coating (GO:0016183), clathrin-coated vesicle cargo loading, AP-3-mediated (GO:0035654), synaptic vesicle recycling (GO:0036465), anterograde synaptic vesicle transport (GO:0048490), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), synaptic vesicle endocytosis (GO:0048488)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (14): early endosome (GO:0005769), Golgi apparatus (GO:0005794), synaptic vesicle (GO:0008021), AP-type membrane coat adaptor complex (GO:0030119), AP-3 adaptor complex (GO:0030123), clathrin adaptor complex (GO:0030131), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), axon cytoplasm (GO:1904115), cytoplasm (GO:0005737), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 3 |
| cellular anatomical structure | 3 |
| intracellular protein localization | 2 |
| cytoplasm | 2 |
| AP-type membrane coat adaptor complex | 2 |
| synapse | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| axonal transport | 1 |
| axon cytoplasm | 1 |
| vesicle coat assembly | 1 |
| synaptic vesicle budding from presynaptic endocytic zone membrane | 1 |
| clathrin-coated vesicle cargo loading | 1 |
| establishment of localization in cell | 1 |
| synaptic vesicle cycle | 1 |
| anterograde axonal transport | 1 |
| synaptic vesicle transport along microtubule | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| synaptic vesicle recycling | 1 |
| presynaptic endocytosis | 1 |
| binding | 1 |
| endosome | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| membrane coat | 1 |
| membrane protein complex | 1 |
| clathrin coat | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| intracellular vesicle | 1 |
| axon | 1 |
| neuron projection cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
860 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AP3M2 | AP3D1 | O14617 | 839 |
| AP3M2 | GSTM1 | P09488 | 711 |
| AP3M2 | AP3S1 | Q92572 | 657 |
| AP3M2 | AP3B1 | O00203 | 562 |
| AP3M2 | AP3B2 | Q13367 | 529 |
| AP3M2 | AP1S1 | P61966 | 485 |
| AP3M2 | ZNF398 | Q8TD17 | 445 |
| AP3M2 | RABGGTA | Q92696 | 397 |
| AP3M2 | AP3S2 | P59780 | 387 |
| AP3M2 | BLOC1S6 | Q9UL45 | 384 |
| AP3M2 | SMIM12 | Q96EX1 | 382 |
| AP3M2 | UBE2C | O00762 | 381 |
| AP3M2 | LRRC40 | Q9H9A6 | 366 |
| AP3M2 | DUSP13B | Q9UII6 | 358 |
| AP3M2 | BEND7 | Q8N7W2 | 353 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AP3M1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| TUBA4A | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| AP3M2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| AP3S1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| IQCF1 | TBC1D4 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLRC1 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| PLCD3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| TCEAL9 | DIRAS1 | psi-mi:“MI:0914”(association) | 0.350 |
| DHDH | ZNF185 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBB | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (41): AP3M2 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3S2 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), AP3D1 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), MEOX2 (Two-hybrid), AP3M2 (Affinity Capture-MS), AP3M2 (Affinity Capture-MS), AP3S2 (Affinity Capture-MS)
ESM2 similar proteins: A2RV18, A4IG72, A7MB11, B8APQ0, D3ZAA9, E2RED8, E9PY46, F4I562, O00189, O43304, O89043, P33611, P47795, P47823, P53676, P53677, P53678, Q0J649, Q10QS7, Q13144, Q14168, Q14181, Q24K11, Q29RY8, Q2PWT8, Q3UR70, Q499N2, Q4R6Q7, Q58D13, Q5E9X5, Q5R478, Q5ZMP7, Q64350, Q8BJ63, Q8CHW4, Q8R2R9, Q8WUH2, Q93Y22, Q96RY7, Q9D0T2
Diamond homologs: F4I562, P47795, P53676, P53677, P53678, Q00776, Q24K11, Q5R478, Q5ZMP7, Q8R2R9, Q9GPF1, Q9HFE5, Q9JKC8, Q9Y2T2, D3ZRP6, P35585, P35602, P38700, Q2KJ81, Q32Q06, Q3SYW1, Q54HS9, Q9BXS5, Q9WVP1, Q9Y6Q5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AP3M2 | “form complex” | “Neuronal AP-3” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 26 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 |
|---|---|---|---|
| Membrane Trafficking | 5 | 11.6× | 1e-03 |
| Vesicle-mediated transport | 5 | 10.9× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 687703 | GRCh37/hg19 8p11.21(chr8:41761813-42107108)x1 | Pathogenic |
SpliceAI
1810 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:42155967:A:AG | acceptor_gain | 1.0000 |
| 8:42158108:CACAG:C | donor_loss | 1.0000 |
| 8:42158109:ACAGG:A | donor_loss | 1.0000 |
| 8:42158110:CAGGT:C | donor_loss | 1.0000 |
| 8:42158111:AGGTA:A | donor_loss | 1.0000 |
| 8:42158114:T:G | donor_loss | 1.0000 |
| 8:42165415:T:TA | acceptor_gain | 1.0000 |
| 8:42165558:GAA:G | donor_gain | 1.0000 |
| 8:42165561:G:GG | donor_gain | 1.0000 |
| 8:42167162:A:AG | acceptor_gain | 1.0000 |
| 8:42167162:AGTCT:A | acceptor_gain | 1.0000 |
| 8:42167163:G:GA | acceptor_gain | 1.0000 |
| 8:42167163:GT:G | acceptor_gain | 1.0000 |
| 8:42167163:GTCT:G | acceptor_gain | 1.0000 |
| 8:42167163:GTCTG:G | acceptor_gain | 1.0000 |
| 8:42167279:G:GT | donor_gain | 1.0000 |
| 8:42169040:G:GT | donor_gain | 1.0000 |
| 8:42169040:G:T | donor_gain | 1.0000 |
| 8:42169064:G:GT | donor_gain | 1.0000 |
| 8:42169080:G:T | donor_gain | 1.0000 |
| 8:42153104:AG:A | donor_loss | 0.9900 |
| 8:42153105:GGTGA:G | donor_loss | 0.9900 |
| 8:42153106:GT:G | donor_loss | 0.9900 |
| 8:42153107:T:G | donor_loss | 0.9900 |
| 8:42154614:A:AG | acceptor_gain | 0.9900 |
| 8:42154615:G:GG | acceptor_gain | 0.9900 |
| 8:42154615:GA:G | acceptor_gain | 0.9900 |
| 8:42155968:A:G | acceptor_gain | 0.9900 |
| 8:42157936:ATCAG:A | acceptor_gain | 0.9900 |
| 8:42157937:T:G | acceptor_gain | 0.9900 |
AlphaMissense
2763 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:42162334:T:A | W167R | 1.000 |
| 8:42162334:T:C | W167R | 1.000 |
| 8:42165097:G:A | G204R | 1.000 |
| 8:42165097:G:C | G204R | 1.000 |
| 8:42165097:G:T | G204W | 1.000 |
| 8:42165098:G:A | G204E | 1.000 |
| 8:42165140:T:C | L218P | 1.000 |
| 8:42165467:T:A | V237D | 1.000 |
| 8:42167675:T:A | W341R | 1.000 |
| 8:42167675:T:C | W341R | 1.000 |
| 8:42158017:T:C | L117P | 0.999 |
| 8:42158026:G:A | G120D | 0.999 |
| 8:42158056:T:C | L130P | 0.999 |
| 8:42158095:T:A | V143D | 0.999 |
| 8:42162336:G:C | W167C | 0.999 |
| 8:42162336:G:T | W167C | 0.999 |
| 8:42162338:G:C | R168P | 0.999 |
| 8:42162371:C:A | A179D | 0.999 |
| 8:42162389:A:T | E185V | 0.999 |
| 8:42162400:G:C | A189P | 0.999 |
| 8:42165122:T:C | L212P | 0.999 |
| 8:42165134:C:A | P216Q | 0.999 |
| 8:42165146:T:C | L220P | 0.999 |
| 8:42165463:T:C | C236R | 0.999 |
| 8:42165464:G:A | C236Y | 0.999 |
| 8:42165465:T:G | C236W | 0.999 |
| 8:42165481:T:A | W242R | 0.999 |
| 8:42165481:T:C | W242R | 0.999 |
| 8:42165512:C:A | P252H | 0.999 |
| 8:42165512:C:G | P252R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000094092 (8:42165220 A>C,T), RS1000140452 (8:42165702 G>A), RS1000249424 (8:42163986 C>G), RS1000330404 (8:42151795 A>G,T), RS1000359130 (8:42153087 C>G,T), RS1000372924 (8:42152908 C>T), RS1000443093 (8:42164844 G>A), RS1000578318 (8:42153676 A>G,T), RS1000635156 (8:42169067 G>A,T), RS1000883960 (8:42170890 G>A,C), RS1001050183 (8:42152038 T>A), RS1001149095 (8:42163943 G>T), RS1001298824 (8:42157757 T>C), RS1001313185 (8:42156906 C>G), RS1001332055 (8:42170287 C>T)
Disease associations
OMIM: gene MIM:610469 | disease phenotypes: MIM:615592
GenCC curated gene-disease
Mondo (1): severe combined immunodeficiency due to IKK2 deficiency (MONDO:0014267)
Orphanet (1): Combined immunodeficiency due to IKBKB deficiency (Orphanet:397787)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006988_102 | Blond vs. brown/black hair color | 2.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003924 | hair color |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | affects expression, affects cotreatment, increases expression | 3 |
| Valproic Acid | affects cotreatment, increases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Nickel | increases expression | 2 |
| Cyclosporine | increases expression, increases methylation | 2 |
| alpha phellandrene | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Benzene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): severe combined immunodeficiency due to IKK2 deficiency