AHNAK2
gene geneOn this page
Summary
AHNAK2 (AHNAK nucleoprotein 2, HGNC:20125) is a protein-coding gene on chromosome 14q32.33, encoding Protein AHNAK2 (Q8IVF2).
This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 113146 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Charcot-Marie-Tooth disease (Limited, GenCC)
- GWAS associations: 8
- Clinical variants (ClinVar): 2,178 total
- MANE Select transcript:
NM_138420
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20125 |
| Approved symbol | AHNAK2 |
| Name | AHNAK nucleoprotein 2 |
| Location | 14q32.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000185567 |
| Ensembl biotype | protein_coding |
| OMIM | 608570 |
| Entrez | 113146 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 2 retained_intron
ENST00000333244, ENST00000555122, ENST00000555544, ENST00000557457
RefSeq mRNA: 2 — MANE Select: NM_138420
NM_001350929, NM_138420
CCDS: CCDS45177
Canonical transcript exons
ENST00000333244 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001433221 | 104954957 | 104955141 |
| ENSE00001532525 | 104978183 | 104978374 |
| ENSE00002436532 | 104937253 | 104954799 |
| ENSE00003520885 | 104957614 | 104957672 |
| ENSE00003537837 | 104956588 | 104956689 |
| ENSE00003542476 | 104955483 | 104955633 |
| ENSE00003573678 | 104957410 | 104957508 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 99.70.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.2630 / max 676.9938, expressed in 1420 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 145155 | 6.9551 | 1007 |
| 145158 | 5.4252 | 1108 |
| 145154 | 2.8975 | 836 |
| 145144 | 0.9672 | 372 |
| 145157 | 0.7421 | 397 |
| 145152 | 0.5306 | 184 |
| 145159 | 0.3062 | 136 |
| 145143 | 0.2179 | 93 |
| 145151 | 0.1897 | 52 |
| 145153 | 0.1889 | 70 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.70 | gold quality |
| upper leg skin | UBERON:0004262 | 99.40 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.94 | gold quality |
| skin of hip | UBERON:0001554 | 98.93 | gold quality |
| gingiva | UBERON:0001828 | 98.89 | gold quality |
| nipple | UBERON:0002030 | 98.84 | gold quality |
| skin of leg | UBERON:0001511 | 98.77 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.73 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.73 | gold quality |
| zone of skin | UBERON:0000014 | 98.72 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.42 | gold quality |
| upper arm skin | UBERON:0004263 | 98.33 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 97.92 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.87 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.79 | gold quality |
| penis | UBERON:0000989 | 97.45 | gold quality |
| tendon | UBERON:0000043 | 97.20 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.01 | gold quality |
| saphenous vein | UBERON:0007318 | 96.85 | gold quality |
| hair follicle | UBERON:0002073 | 96.82 | gold quality |
| lower esophagus | UBERON:0013473 | 96.76 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.74 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.66 | gold quality |
| esophagus | UBERON:0001043 | 96.64 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.60 | gold quality |
| ectocervix | UBERON:0012249 | 96.06 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.80 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.70 | gold quality |
| decidua | UBERON:0002450 | 95.63 | gold quality |
| uterine cervix | UBERON:0000002 | 95.61 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 668.64 |
| E-ANND-3 | yes | 10.18 |
| E-CURD-53 | no | 774.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
37 targeting AHNAK2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-218-1-3P | 98.63 | 67.97 | 832 |
| HSA-MIR-518C-5P | 98.53 | 69.20 | 1640 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
Literature-anchored findings (GeneRIF, showing 13)
- Periaxin and AHNAK nucleoprotein 2 form intertwined homodimers through domain swapping (PMID:24675079)
- AHNAK2 is overexpressed in PDAC tissues and is an independent prognostic factor in patients with PDAC. (PMID:28423668)
- The authors reveal that AHNAK2 is upregulated in clear cell renal cell carcinoma cells and hypoxic upregulation of AHNAK2 can drive tumorigenesis and progression by supporting EMT and cancer cell stemness. (PMID:28435451)
- Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. (PMID:31011849)
- Results illustrated that AHNAK2 was upregulated in UM and plays a promoting role in the proliferation and migration of UM cells possibly via regulating PI3K signaling pathway. (PMID:31621397)
- AHNAK2 Is Associated with Poor Prognosis and Cell Migration in Lung Adenocarcinoma. (PMID:32904605)
- Down-Regulation of AHNAK2 Inhibits Cell Proliferation, Migration and Invasion Through Inactivating the MAPK Pathway in Lung Adenocarcinoma. (PMID:33000678)
- Correlation between prognostic indicator AHNAK2 and immune infiltrates in lung adenocarcinoma. (PMID:33168407)
- AHNAK2 is a novel prognostic marker and correlates with immune infiltration in papillary thyroid cancer: Evidence from integrated analysis. (PMID:33218938)
- Silencing of AHNAK2 restricts thyroid carcinoma progression by inhibiting the Wnt/beta-catenin pathway. (PMID:34374294)
- AHNAK2 promotes thyroid carcinoma progression by activating the NF-kappaB pathway. (PMID:34627772)
- AHNAK2 Promotes the Progression of Differentiated Thyroid Cancer through PI3K/AKT Signaling Pathway. (PMID:36089788)
- Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma cells by interacting with RUVBL1. (PMID:37349884)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ahnak2 | ENSMUSG00000118667 |
| rattus_norvegicus | Ahnak2 | ENSRNOG00000065195 |
| caenorhabditis_elegans | WBGENE00011833 |
Paralogs (2): PRX (ENSG00000105227), AHNAK (ENSG00000124942)
Protein
Protein identifiers
Protein AHNAK2 — Q8IVF2 (reviewed: Q8IVF2)
All UniProt accessions (1): Q8IVF2
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Homodimer (via PDZ domain). Interacts with DYSF; the interaction is direct and Ca(2+)-independent.
Subcellular location. Nucleus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IVF2-1 | 1 | yes |
| Q8IVF2-2 | 2 | |
| Q8IVF2-3 | 3 |
RefSeq proteins (2): NP_001337858, NP_612429* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001478 | PDZ | Domain |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR052082 | Myelin_sheath_structural | Family |
UniProt features (134 total): sequence variant 41, modified residue 35, compositionally biased region 23, region of interest 15, sequence conflict 8, strand 5, helix 2, splice variant 2, chain 1, domain 1, cross-link 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4CN0 | X-RAY DIFFRACTION | 1.75 |
Predicted structure (AlphaFold)
No AlphaFold model available for Q8IVF2 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
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 (36): 280, 294, 593, 842, 1007, 1112, 1337, 1418, 1502, 1510, 1667, 1832, 1840, 2162, 2243, 2408, 2492, 2500, 2738, 2822 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 125 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, KOBAYASHI_EGFR_SIGNALING_24HR_UP, WALLACE_PROSTATE_CANCER_RACE_UP, CHANDRAN_METASTASIS_DN, BILD_HRAS_ONCOGENIC_SIGNATURE, RICKMAN_METASTASIS_DN, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, BROWNE_HCMV_INFECTION_14HR_DN, GOBP_RNA_SPLICING, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, COATES_MACROPHAGE_M1_VS_M2_DN
GO Biological Process (1): regulation of RNA splicing (GO:0043484)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), T-tubule (GO:0030315), sarcolemma (GO:0042383)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| sarcolemma | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
2530 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AHNAK2 | ACTN1 | P12814 | 585 |
| AHNAK2 | ANXA2 | P07355 | 553 |
| AHNAK2 | CACNA1S | Q13698 | 551 |
| AHNAK2 | DYSF | O75923 | 485 |
| AHNAK2 | CAV1 | Q03135 | 478 |
| AHNAK2 | MYOF | Q9NZM1 | 452 |
| AHNAK2 | S100B | P04271 | 451 |
| AHNAK2 | MUC16 | Q8WXI7 | 446 |
| AHNAK2 | FZD1 | Q9UP38 | 439 |
| AHNAK2 | LMO7 | Q8WWI1 | 435 |
| AHNAK2 | CTNNA1 | P35221 | 426 |
| AHNAK2 | KCNV2 | Q8TDN2 | 422 |
| AHNAK2 | J3KSM2 | J3KSM2 | 415 |
| AHNAK2 | USP17L11 | C9JVI0 | 415 |
| AHNAK2 | CAPN3 | P20807 | 413 |
IntAct
97 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| GJB7 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| PCK2 | IGHA1 | psi-mi:“MI:0914”(association) | 0.530 |
| FKBP11 | ANKRD13D | psi-mi:“MI:0914”(association) | 0.530 |
| EMILIN1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| AHNAK2 | P4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AHNAK2 | FZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLCO1C1 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABCC4 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGEF16 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ASIC3 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATP2B4 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYSLTR2 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKK | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKZ | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DOCK4 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD4 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| E6 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ORF putative E6 | AHNAK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (192): AHNAK2 (Two-hybrid), AHNAK2 (Two-hybrid), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Co-fractionation), AHNAK2 (Co-fractionation), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS)
ESM2 similar proteins: A2TJV2, A4FU49, A5D7L8, A6H8Y1, D3YVF0, D3YZV8, F6QRE9, O15069, O43493, P0C2X8, P0C7A2, P21263, P24587, P49919, P62521, Q08DY0, Q0P6D6, Q13127, Q28139, Q28181, Q2T9N0, Q4R729, Q5H9T9, Q5RHP9, Q5STT6, Q5XGC9, Q5XHX6, Q62170, Q63560, Q66H38, Q6AXX0, Q6P5H2, Q6P902, Q70KF4, Q7TSJ2, Q8C627, Q8IVF2, Q8N1P7, Q8N2N9, Q8N3D4
Diamond homologs: E1BM58, O55103, Q63425, Q8IVF2, Q9BXM0, Q09666
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
2178 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1497 |
| Likely benign | 509 |
| Benign | 87 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1642 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:104957407:CA:C | donor_loss | 1.0000 |
| 14:104957408:A:AC | donor_gain | 1.0000 |
| 14:104957408:ACCTG:A | donor_loss | 1.0000 |
| 14:104957409:C:A | donor_loss | 1.0000 |
| 14:104957409:C:CC | donor_gain | 1.0000 |
| 14:104957504:GTCAC:G | acceptor_gain | 1.0000 |
| 14:104957505:TCAC:T | acceptor_gain | 1.0000 |
| 14:104957506:CAC:C | acceptor_gain | 1.0000 |
| 14:104957506:CACC:C | acceptor_gain | 1.0000 |
| 14:104957507:AC:A | acceptor_gain | 1.0000 |
| 14:104957508:CC:C | acceptor_gain | 1.0000 |
| 14:104957509:C:A | acceptor_loss | 1.0000 |
| 14:104957509:C:CC | acceptor_gain | 1.0000 |
| 14:104957510:T:G | acceptor_loss | 1.0000 |
| 14:104957513:C:CT | acceptor_gain | 1.0000 |
| 14:104957514:G:T | acceptor_gain | 1.0000 |
| 14:104957595:T:TA | donor_gain | 1.0000 |
| 14:104957608:A:AC | donor_gain | 1.0000 |
| 14:104957609:C:CC | donor_gain | 1.0000 |
| 14:104957612:A:AC | donor_gain | 1.0000 |
| 14:104957613:C:CC | donor_gain | 1.0000 |
| 14:104957613:CAGA:C | donor_gain | 1.0000 |
| 14:104954750:T:TA | donor_gain | 0.9900 |
| 14:104954958:T:TA | donor_gain | 0.9900 |
| 14:104955436:T:TA | donor_gain | 0.9900 |
| 14:104955485:T:A | donor_gain | 0.9900 |
| 14:104955518:T:TA | donor_gain | 0.9900 |
| 14:104955522:TCAGC:T | donor_gain | 0.9900 |
| 14:104955630:CAGC:C | acceptor_gain | 0.9900 |
| 14:104956601:AT:A | donor_gain | 0.9900 |
AlphaMissense
38092 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:104955536:A:T | V138D | 0.992 |
| 14:104954668:C:A | W261C | 0.991 |
| 14:104954668:C:G | W261C | 0.991 |
| 14:104954670:A:G | W261R | 0.989 |
| 14:104954670:A:T | W261R | 0.989 |
| 14:104955566:A:T | V128D | 0.988 |
| 14:104955075:A:G | L178P | 0.987 |
| 14:104954659:A:C | F264L | 0.986 |
| 14:104954659:A:T | F264L | 0.986 |
| 14:104954661:A:G | F264L | 0.986 |
| 14:104939269:G:C | F5394L | 0.985 |
| 14:104939269:G:T | F5394L | 0.985 |
| 14:104939271:A:G | F5394L | 0.985 |
| 14:104939300:A:T | V5384D | 0.985 |
| 14:104955045:A:G | F188S | 0.985 |
| 14:104955084:A:G | L175P | 0.982 |
| 14:104955088:C:G | A174P | 0.981 |
| 14:104939270:A:G | F5394S | 0.979 |
| 14:104955051:A:T | V186D | 0.979 |
| 14:104955078:A:G | I177T | 0.979 |
| 14:104955573:A:C | Y126D | 0.979 |
| 14:104978223:G:C | F5L | 0.979 |
| 14:104978223:G:T | F5L | 0.979 |
| 14:104978225:A:G | F5L | 0.979 |
| 14:104939322:A:G | W5377R | 0.978 |
| 14:104939322:A:T | W5377R | 0.978 |
| 14:104955132:A:G | L159P | 0.978 |
| 14:104956639:C:A | W88C | 0.978 |
| 14:104956639:C:G | W88C | 0.978 |
| 14:104955491:A:G | L153S | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000017659 (14:104971341 A>G), RS1000059318 (14:104965219 G>T), RS1000154960 (14:104969318 C>A,T), RS1000183499 (14:104973262 G>A), RS1000240348 (14:104969987 T>C), RS1000242251 (14:104973078 C>A), RS1000281306 (14:104957819 G>A), RS1000385234 (14:104980056 C>T), RS1000435007 (14:104968284 G>A), RS1000442358 (14:104974900 C>T), RS1000471753 (14:104974665 CTCCCAGG>C), RS1000527300 (14:104972248 C>G,T), RS1000579284 (14:104978645 C>T), RS1000579841 (14:104971894 G>A), RS1000633466 (14:104977373 T>G)
Disease associations
OMIM: gene MIM:608570 | disease phenotypes: MIM:160120
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Charcot-Marie-Tooth disease | Limited | Autosomal recessive |
Mondo (3): migraine disorder (MONDO:0005277), hereditary episodic ataxia (MONDO:0016227), Charcot-Marie-Tooth disease (MONDO:0015626)
Orphanet (1): Hereditary episodic ataxia (Orphanet:211062)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002318_173 | Rheumatoid arthritis | 3.000000e-07 |
| GCST002318_88 | Rheumatoid arthritis | 5.000000e-08 |
| GCST003599_4 | Systemic lupus erythematosus | 9.000000e-07 |
| GCST006959_183 | Rheumatoid arthritis | 7.000000e-06 |
| GCST006959_95 | Rheumatoid arthritis | 4.000000e-06 |
| GCST007002_7 | Cerebrospinal fluid t-tau levels in normal cognition | 7.000000e-09 |
| GCST007007_3 | Cerebrospinal fluid t-tau levels | 7.000000e-06 |
| GCST011956_143 | Systemic lupus erythematosus | 3.000000e-30 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004760 | t-tau measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002607 | Charcot-Marie-Tooth Disease | C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200 |
| D008881 | Migraine Disorders | C10.228.140.546.399.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
95 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, increases expression, affects expression, decreases expression | 7 |
| bisphenol A | affects cotreatment, decreases expression, affects expression, increases expression | 5 |
| Particulate Matter | increases expression, decreases expression, increases abundance, affects cotreatment | 4 |
| sodium arsenite | increases abundance, increases expression, affects binding, increases reaction, affects cotreatment (+1 more) | 3 |
| bisphenol S | affects cotreatment, decreases expression, affects expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression | 3 |
| Doxorubicin | affects expression, increases expression | 3 |
| perfluorooctane sulfonic acid | increases expression, decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Vorinostat | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, affects cotreatment | 2 |
| Estradiol | affects expression, increases expression | 2 |
| Cadmium Chloride | increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression | 1 |
| quercitrin | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7JV | Ubigene A-549 AHNAK2 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
359 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00174395 | PHASE4 | COMPLETED | A Trial to Study of the Effects of Eletriptan 40mg on Mild vs Moderate to Severe Pain Intensity of Migraine |
| NCT00208065 | PHASE4 | COMPLETED | Evaluation of Histamine, CGRP and VIP as Markers for Activation of Trigeminal and Parasympathetic Nerve Fibers |
| NCT00210496 | PHASE4 | COMPLETED | Potential Impact (Benefit) of Preventative Treatment With Topamax on the Effectiveness of Axert in the Acute Treatment of Migraine |
| NCT00210509 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Almotriptan Versus Placebo in the Treatment of Migraine Headache |
| NCT00212810 | PHASE4 | COMPLETED | Evaluation of the Effectiveness of Topiramate in Preventing the Transformation From Episodic Migraine to Chronic Daily Headache. |
| NCT00212823 | PHASE4 | COMPLETED | The Effectiveness of Almotriptan Malate (AXERT®) 12.5 Milligrams When Taken at the Onset of Migraine Pain |
| NCT00216736 | PHASE4 | COMPLETED | Oral Dexamethasone for Treatment of Migraine |
| NCT00259636 | PHASE4 | WITHDRAWN | Zonisamide for Fibromyalgia & Migraine |
| NCT00259649 | PHASE4 | COMPLETED | Prospective Survey of Menstrual Migraine & Prevention With Eletriptan |
| NCT00297375 | PHASE4 | COMPLETED | A Study Comparing the Effectiveness and Safety of ULTRACET® (Tramadol HCl/Acetaminophen) Versus Placebo for the Treatment of Acute Pain From a Migraine Headache |
| NCT00335777 | PHASE4 | COMPLETED | A Research Study Examining Migranal and Skin Sensitivity in Subjects With Migraine |
| NCT00363506 | PHASE4 | UNKNOWN | American Migraine Prevention Study |
| NCT00364806 | PHASE4 | COMPLETED | Prochlorperazine vs Metoclopramide |
| NCT00391755 | PHASE4 | TERMINATED | A Double-Blind Placebo-Controlled Trial of Rozerem in Migraine Headaches |
| NCT00397254 | PHASE4 | COMPLETED | Two Rizatriptan Prescribing Portions for Treatment of Migraine |
| NCT00443352 | PHASE4 | COMPLETED | A Research Study Examining The Use Of Duloxetine In The Prevention Of Migraine Headache |
| NCT00449787 | PHASE4 | COMPLETED | Comparing Naproxen to Sumatriptan for Emergency Headache Patients |
| NCT00632385 | PHASE4 | COMPLETED | Efficacy and Safety of Eletriptan for the Treatment of Migraine in Patients Not Satisfied With Rizatriptan Therapy |
| NCT00634985 | PHASE4 | COMPLETED | Safety and Efficacy of Eletriptan for the Treatment of Migraine in Subjects Unsuccessfully Treated With Nonsteroidal Anti-inflammatory Drugs |
| NCT00637286 | PHASE4 | COMPLETED | ZAP, US. Zomig for Appropriate for Primary Care |
| NCT00753311 | PHASE4 | COMPLETED | Rizatriptan in Acute Treatment of Migraine in Patients With Unilateral Trigeminal-autonomic Symptoms. |
| NCT00792636 | PHASE4 | COMPLETED | A Study to Determine the Effect of Sumatriptan and Naproxen Sodium Combination Tablet, Sumatriptan Tablet, and Naproxen Sodium Tablet on Blood Pressure When Treating Migraine Headaches That Occur During a 6-month Period |
| NCT00799045 | PHASE4 | COMPLETED | Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects |
| NCT00812214 | PHASE4 | COMPLETED | Treatment of Insomnia in Migraineurs |
| NCT00846495 | PHASE4 | COMPLETED | Pilot Study to Compare Frovatriptan vs. Topiramate for Prevention of Migraine |
| NCT00893737 | PHASE4 | COMPLETED | Completeness of Response Following Treatment With Treximet™ for Migraine |
| NCT00910689 | PHASE4 | COMPLETED | Drug and Non-Drug Treatment Of Severe Migraine |
| NCT00915473 | PHASE4 | COMPLETED | Greater Occipital Nerve Block for Migraine Prophylaxis |
| NCT01016834 | PHASE4 | COMPLETED | Evaluation of Treatment Satisfaction and Preference for Sumavel DosePro in the Treatment of Migraine |
| NCT01057160 | PHASE4 | COMPLETED | Rizatriptan 10 MG RPD in the Treatment of Acute Migraine |
| NCT01060111 | PHASE4 | COMPLETED | An Efficacy and Tolerability Study of Topiramate in Participants With Migraine |
| NCT01071096 | PHASE4 | COMPLETED | Calcitonin Gene-related Peptide Levels in Chronic Migraine |
| NCT01071317 | PHASE4 | COMPLETED | Trial of Comprehensive Migraine Intervention |
| NCT01090050 | PHASE4 | COMPLETED | Treximet in the Treatment of Chronic Migraine |
| NCT01138150 | PHASE4 | COMPLETED | Ictal and Interictal Inflammatory Markers in Migraine |
| NCT01211145 | PHASE4 | COMPLETED | Zomig - Treatment of Acute Migraine Headache in Adolescents |
| NCT01267864 | PHASE4 | COMPLETED | Valproate Versus Ketorolac Versus Metoclopramide |
| NCT01300546 | PHASE4 | COMPLETED | Treximet Trademark (TM) in the Prevention and Modification of Disease Progression in Migraine |
| NCT01319825 | PHASE4 | UNKNOWN | Preventive Treatment of Episodic and Chronic Migraine |
| NCT01332864 | PHASE4 | COMPLETED | Effect of Osteopathic Manipulative Treatment for Patients With Chronic Headache |
Related Atlas pages
- Associated diseases: Charcot-Marie-Tooth disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Charcot-Marie-Tooth disease, hereditary episodic ataxia, migraine disorder