TRAK2
gene geneOn this page
Also known as CALS-CKIAA0549GRIF-1OIP98MILT2
Summary
TRAK2 (trafficking kinesin protein 2, HGNC:13206) is a protein-coding gene on chromosome 2q33.1, encoding Trafficking kinesin-binding protein 2 (O60296). May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR.
Predicted to enable GABA receptor binding activity and myosin binding activity. Predicted to be involved in several processes, including mitochondrion distribution; protein O-linked glycosylation; and vesicle transport along microtubule. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in cytoplasmic vesicle; dendrite; and mitochondrion.
Source: NCBI Gene 66008 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 140 total
- MANE Select transcript:
NM_015049
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13206 |
| Approved symbol | TRAK2 |
| Name | trafficking kinesin protein 2 |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CALS-C, KIAA0549, GRIF-1, OIP98, MILT2 |
| Ensembl gene | ENSG00000115993 |
| Ensembl biotype | protein_coding |
| OMIM | 607334 |
| Entrez | 66008 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 15 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000332624, ENST00000430254, ENST00000440597, ENST00000451703, ENST00000486291, ENST00000861746, ENST00000861747, ENST00000861748, ENST00000861749, ENST00000861750, ENST00000861751, ENST00000861752, ENST00000861753, ENST00000972035, ENST00000972036, ENST00000972037, ENST00000972038
RefSeq mRNA: 1 — MANE Select: NM_015049
NM_015049
CCDS: CCDS2347
Canonical transcript exons
ENST00000332624 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000784650 | 201384111 | 201384216 |
| ENSE00000784651 | 201386218 | 201386484 |
| ENSE00000784652 | 201387703 | 201388001 |
| ENSE00000784653 | 201389300 | 201389503 |
| ENSE00000784654 | 201392909 | 201393046 |
| ENSE00000784655 | 201394798 | 201394872 |
| ENSE00000784656 | 201395314 | 201395444 |
| ENSE00000784657 | 201397502 | 201397580 |
| ENSE00000934587 | 201401018 | 201401094 |
| ENSE00000934588 | 201399377 | 201399493 |
| ENSE00000934589 | 201398145 | 201398354 |
| ENSE00000934590 | 201389801 | 201389880 |
| ENSE00001315209 | 201377207 | 201381218 |
| ENSE00001662139 | 201451350 | 201451458 |
| ENSE00002435966 | 201407403 | 201407597 |
| ENSE00003686006 | 201420417 | 201420706 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 99.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.5582 / max 1305.9128, expressed in 1804 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33231 | 21.7231 | 1790 |
| 33232 | 9.6010 | 1664 |
| 33225 | 0.3776 | 100 |
| 33233 | 0.2723 | 120 |
| 33229 | 0.2013 | 17 |
| 33226 | 0.1326 | 41 |
| 33234 | 0.1201 | 45 |
| 33227 | 0.0583 | 12 |
| 33228 | 0.0376 | 9 |
| 33230 | 0.0342 | 9 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 99.08 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.95 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.87 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.72 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.71 | gold quality |
| inferior olivary complex | UBERON:0002127 | 98.53 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.50 | gold quality |
| spinal cord | UBERON:0002240 | 98.34 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.34 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.84 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.67 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.58 | gold quality |
| corpus callosum | UBERON:0002336 | 97.57 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.08 | gold quality |
| pons | UBERON:0000988 | 96.91 | gold quality |
| secondary oocyte | CL:0000655 | 96.87 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.79 | gold quality |
| globus pallidus | UBERON:0001875 | 96.74 | gold quality |
| myocardium | UBERON:0002349 | 96.37 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.12 | gold quality |
| periodontal ligament | UBERON:0008266 | 95.90 | gold quality |
| midbrain | UBERON:0001891 | 95.86 | gold quality |
| substantia nigra | UBERON:0002038 | 95.79 | gold quality |
| blood vessel layer | UBERON:0004797 | 95.78 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.71 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.68 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.64 | gold quality |
| saphenous vein | UBERON:0007318 | 95.55 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.11 | gold quality |
| tendon | UBERON:0000043 | 94.99 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 49.33 |
| E-MTAB-10042 | yes | 23.13 |
| E-MTAB-9221 | yes | 10.93 |
| E-ANND-3 | yes | 7.43 |
| E-MTAB-9467 | no | 0.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
178 targeting TRAK2, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
Literature-anchored findings (GeneRIF, showing 11)
- identification, molecular cloning and characterization (PMID:12034717)
- GRIF-1 and OIP106 have roles in protein and/or organelle transport in excitable cells in a manner analogous to glutamate receptor-interacting-protein 1 (PMID:15644324)
- analysis of the GRIF-1 binding domain of the kinesin, KIF5C, which substantiates a role for GRIF-1 as an adaptor protein in the anterograde trafficking of cargoes (PMID:16835241)
- Binds to Kir2.1 and facilitates trafficking of this channel to the cell surface. (PMID:16895905)
- These data suggest that Miro1 and the kinesin adaptor Grif-1 play an important role in regulating mitochondrial transport in neurons. (PMID:19103291)
- The results of this study established a key role for mammalian TRAK2 proteins in axonal and dendritic targeting of mitochondria. (PMID:23395375)
- This study showed that the TRAK2 was more prevalent in dendrites of hippocampal neurons. In cortical neurons, TRAK2 was equally distributed between axons and dendrites. (PMID:25653102)
- Full-length APC promotes assembly of the Miro-1/Milton-2 complex. (PMID:26658612)
- TRAK2 is a novel regulator of LXR-mediated ABCA1 expression, cholesterol efflux, and HDL biogenesis. TRAK2 may therefore be an important target in the development of anti-atherosclerotic therapies. (PMID:28655204)
- miR-487b and TRAK2 that form an axis to regulate the aggressiveness of osteosarcoma, are potential therapeutic targets and prognostic biomarkers. (PMID:32267991)
- Mitochondrial adaptor TRAK2 activates and functionally links opposing kinesin and dynein motors. (PMID:34321481)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trak2 | ENSDARG00000102471 |
| mus_musculus | Trak2 | ENSMUSG00000026028 |
| rattus_norvegicus | Trak2 | ENSRNOG00000010881 |
| drosophila_melanogaster | milt | FBGN0262872 |
| caenorhabditis_elegans | trak-1 | WBGENE00020838 |
Paralogs (2): HAP1 (ENSG00000173805), TRAK1 (ENSG00000182606)
Protein
Protein identifiers
Trafficking kinesin-binding protein 2 — O60296 (reviewed: O60296)
Alternative names: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein
All UniProt accessions (2): O60296, Q53RS6
UniProt curated annotations — full annotation on UniProt →
Function. May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR.
Subunit / interactions. Interacts with GABA-A receptor and O-GlcNAc transferase. Interacts with HGS. Interacts with RHOT1/Miro-1 and RHOT2/Miro-2.
Subcellular location. Cytoplasm. Early endosome. Mitochondrion.
Tissue specificity. Widely expressed, with highest expression in heart.
Post-translational modifications. O-glycosylated.
Similarity. Belongs to the milton family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60296-1 | 1 | yes |
| O60296-2 | 2 |
RefSeq proteins (1): NP_055864* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006933 | HAP1_N | Domain |
| IPR022154 | TRAK1/2_C | Domain |
| IPR051946 | Intracell_Traff-Reg | Family |
Pfam: PF04849, PF12448
UniProt features (16 total): region of interest 4, sequence variant 3, compositionally biased region 3, splice variant 2, chain 1, domain 1, modified residue 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60296-F1 | 61.18 | 0.24 |
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 (1): 420
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013419 | RHOT2 GTPase cycle |
| R-HSA-9013425 | RHOT1 GTPase cycle |
MSigDB gene sets: 293 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_LYSOSOMAL_TRANSPORT, GOBP_VESICLE_LOCALIZATION, AREB6_03, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_PROTEIN_TARGETING, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_VACUOLAR_TRANSPORT, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE
GO Biological Process (10): regulation of transcription by RNA polymerase II (GO:0006357), protein O-linked glycosylation (GO:0006493), protein targeting (GO:0006605), endosome to lysosome transport (GO:0008333), neurogenesis (GO:0022008), vesicle transport along microtubule (GO:0047496), mitochondrion distribution (GO:0048311), dendrite morphogenesis (GO:0048813), negative regulation of axonogenesis (GO:0050771), dendritic transport of mitochondrion (GO:0098939)
GO Molecular Function (7): signaling receptor binding (GO:0005102), myosin binding (GO:0017022), kinesin binding (GO:0019894), enzyme binding (GO:0019899), TPR domain binding (GO:0030911), GABA receptor binding (GO:0050811), protein binding (GO:0005515)
GO Cellular Component (12): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), early endosome (GO:0005769), cytosol (GO:0005829), plasma membrane (GO:0005886), dendrite (GO:0030425), cytoplasmic vesicle (GO:0031410), dendrite cytoplasm (GO:0032839), neuronal cell body (GO:0043025), axonal growth cone (GO:0044295), endosome (GO:0005768)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Miro GTPase Cycle | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| protein binding | 2 |
| cytoskeletal protein binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| glycoprotein biosynthetic process | 1 |
| establishment of protein localization | 1 |
| lysosomal transport | 1 |
| intercellular transport | 1 |
| vesicle-mediated transport | 1 |
| nervous system development | 1 |
| cell differentiation | 1 |
| organelle transport along microtubule | 1 |
| vesicle cytoskeletal trafficking | 1 |
| mitochondrion localization | 1 |
| dendrite development | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axonogenesis | 1 |
| negative regulation of neuron projection development | 1 |
| negative regulation of neurogenesis | 1 |
| regulation of axonogenesis | 1 |
| dendrite cytoplasm | 1 |
| mitochondrion transport along microtubule | 1 |
| dendritic transport | 1 |
| protein domain specific binding | 1 |
| signaling receptor binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endosome | 1 |
| membrane | 1 |
| cell periphery | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| intracellular vesicle | 1 |
| dendrite | 1 |
| neuron projection cytoplasm | 1 |
| somatodendritic compartment | 1 |
Protein interactions and networks
STRING
808 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRAK2 | RHOT1 | Q8IXI2 | 995 |
| TRAK2 | RHOT2 | Q8IXI1 | 988 |
| TRAK2 | STRADB | Q9C0K7 | 908 |
| TRAK2 | TRAK1 | Q9UPV9 | 858 |
| TRAK2 | ARMCX3 | Q9UH62 | 845 |
| TRAK2 | MYO19 | Q96H55 | 796 |
| TRAK2 | MFN2 | O95140 | 792 |
| TRAK2 | KIF5C | O60282 | 789 |
| TRAK2 | OGT | O15294 | 782 |
| TRAK2 | KIF5A | Q12840 | 715 |
| TRAK2 | SNPH | O15079 | 708 |
| TRAK2 | MYO10 | Q9HD67 | 701 |
| TRAK2 | ALS2 | Q96Q42 | 690 |
| TRAK2 | KIF5B | P33176 | 675 |
| TRAK2 | MFN1 | Q8IWA4 | 653 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAK2 | OGT | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | TRAK2 | psi-mi:“MI:0914”(association) | 0.530 |
| GSK3B | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| TOMM22 | DNM1L | psi-mi:“MI:2364”(proximity) | 0.270 |
| TRAK2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (122): ACAD11 (Affinity Capture-MS), OGT (Affinity Capture-MS), KLC1 (Affinity Capture-MS), KLC2 (Affinity Capture-MS), KLC4 (Affinity Capture-MS), PRKAG1 (Affinity Capture-MS), PLK1 (Affinity Capture-MS), CKAP2 (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF5C (Affinity Capture-MS), KIF5B (Affinity Capture-MS), KIF5A (Affinity Capture-MS), RHOT1 (Affinity Capture-MS), GSK3B (Affinity Capture-MS), GSK3A (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2CE83, B8A5S6, E7F5E1, F7DP49, H2MTR9, O08970, O35711, O60296, P27628, P53564, P60853, Q0VF96, Q28GJ0, Q2KJD6, Q3UIJ9, Q4V7D3, Q5BIX7, Q5R923, Q5SXA9, Q5SZL2, Q5U2Y9, Q5U4W1, Q5ZLT3, Q6AW69, Q6DIS8, Q6DJR2, Q6NRW2, Q6NXJ0, Q6P402, Q6PCQ0, Q6PD31, Q7TQE6, Q80ST9, Q86W92, Q8BMK0, Q8C8U0, Q8CFC9
Diamond homologs: O35668, O60296, P54256, P54257, Q6PD31, Q9UPV9, Q6GLX3, Q8R2H7, Q960V3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KIF5C | “up-regulates activity” | TRAK2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
140 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 114 |
| Likely benign | 4 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2901 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:201384230:T:C | acceptor_gain | 1.0000 |
| 2:201386215:CA:C | donor_loss | 1.0000 |
| 2:201386216:A:T | donor_loss | 1.0000 |
| 2:201386225:TGGTC:T | donor_gain | 1.0000 |
| 2:201386485:C:CC | acceptor_gain | 1.0000 |
| 2:201386491:A:AC | acceptor_gain | 1.0000 |
| 2:201386491:A:C | acceptor_gain | 1.0000 |
| 2:201387690:A:AC | donor_gain | 1.0000 |
| 2:201387691:C:CC | donor_gain | 1.0000 |
| 2:201387837:ACT:A | donor_gain | 1.0000 |
| 2:201387838:CTC:C | donor_gain | 1.0000 |
| 2:201387843:T:A | donor_gain | 1.0000 |
| 2:201389309:T:TA | donor_gain | 1.0000 |
| 2:201389324:C:A | donor_gain | 1.0000 |
| 2:201389799:A:AC | donor_gain | 1.0000 |
| 2:201389800:C:CT | donor_gain | 1.0000 |
| 2:201389800:CT:C | donor_gain | 1.0000 |
| 2:201389800:CTT:C | donor_gain | 1.0000 |
| 2:201389800:CTTTT:C | donor_gain | 1.0000 |
| 2:201392903:GCTT:G | donor_loss | 1.0000 |
| 2:201392904:CTTA:C | donor_loss | 1.0000 |
| 2:201392906:TACCC:T | donor_loss | 1.0000 |
| 2:201392907:A:AC | donor_gain | 1.0000 |
| 2:201392907:AC:A | donor_gain | 1.0000 |
| 2:201392907:ACC:A | donor_gain | 1.0000 |
| 2:201392907:ACCC:A | donor_gain | 1.0000 |
| 2:201392908:C:A | donor_loss | 1.0000 |
| 2:201392908:C:CC | donor_gain | 1.0000 |
| 2:201392908:CC:C | donor_gain | 1.0000 |
| 2:201392908:CCC:C | donor_gain | 1.0000 |
AlphaMissense
5959 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:201398344:A:G | L164P | 0.999 |
| 2:201399450:A:G | L136P | 0.999 |
| 2:201399465:C:G | R131P | 0.999 |
| 2:201399474:A:G | L128P | 0.999 |
| 2:201386462:C:A | W573C | 0.998 |
| 2:201386462:C:G | W573C | 0.998 |
| 2:201386464:A:G | W573R | 0.998 |
| 2:201386464:A:T | W573R | 0.998 |
| 2:201398332:A:G | L168P | 0.998 |
| 2:201399454:C:G | A135P | 0.998 |
| 2:201399459:C:T | G133E | 0.998 |
| 2:201399469:C:G | A130P | 0.998 |
| 2:201399472:C:G | A129P | 0.998 |
| 2:201399480:A:G | L126P | 0.998 |
| 2:201401028:A:G | L118P | 0.998 |
| 2:201387726:A:G | L558S | 0.997 |
| 2:201397528:A:G | L248P | 0.997 |
| 2:201398152:C:G | R228P | 0.997 |
| 2:201398311:A:G | L175P | 0.997 |
| 2:201399441:C:G | R139P | 0.997 |
| 2:201399486:C:G | R124P | 0.997 |
| 2:201387717:A:T | V561D | 0.996 |
| 2:201394808:A:G | L322P | 0.996 |
| 2:201394838:A:G | L312P | 0.996 |
| 2:201394850:A:G | L308P | 0.996 |
| 2:201395333:A:G | L294P | 0.996 |
| 2:201397536:T:A | E245D | 0.996 |
| 2:201397536:T:G | E245D | 0.996 |
| 2:201398155:A:G | L227P | 0.996 |
| 2:201398185:A:G | L217P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000025372 (2:201450448 C>T), RS1000050642 (2:201435238 T>C), RS1000114899 (2:201395077 T>C), RS1000195905 (2:201431760 T>A), RS1000206895 (2:201406710 C>A,T), RS1000209473 (2:201422529 T>C), RS1000261998 (2:201422813 C>T), RS1000299005 (2:201392108 A>G), RS1000353319 (2:201379686 C>T), RS1000384460 (2:201380009 C>A), RS1000409513 (2:201399756 G>A), RS1000415428 (2:201433964 T>C), RS1000470393 (2:201391878 C>T), RS1000486148 (2:201442360 C>T), RS1000593834 (2:201405415 C>T)
Disease associations
OMIM: gene MIM:607334 | 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 |
|---|---|---|
| GCST009387_2 | Cocaine use disorder x change in residence interaction | 3.000000e-08 |
| GCST009665_1 | Breast cancer | 2.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010445 | cocaine use disorder |
| EFO:0010552 | social environment measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment | 6 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| uranyl acetate | affects expression | 1 |
| afimoxifene | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| ochratoxin A | decreases acetylation, decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Lead | affects splicing | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Silicon Dioxide | decreases 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_E0S5 | Ubigene HeLa TRAK2 KO | Cancer cell line | Female |
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.