TBC1D2
gene geneOn this page
Also known as PARIS1TBC1D2AArmus
Summary
TBC1D2 (TBC1 domain family member 2, HGNC:18026) is a protein-coding gene on chromosome 9q22.33, encoding TBC1 domain family member 2A (Q9BYX2). Acts as a GTPase-activating protein for RAB7A.
Enables GTPase activator activity and cadherin binding activity. Involved in positive regulation of GTPase activity. Located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm.
Source: NCBI Gene 55357 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 165 total
- MANE Select transcript:
NM_001267571
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18026 |
| Approved symbol | TBC1D2 |
| Name | TBC1 domain family member 2 |
| Location | 9q22.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PARIS1, TBC1D2A, Armus |
| Ensembl gene | ENSG00000095383 |
| Ensembl biotype | protein_coding |
| OMIM | 609871 |
| Entrez | 55357 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000342112, ENST00000375063, ENST00000375064, ENST00000375066, ENST00000465784, ENST00000493589
RefSeq mRNA: 4 — MANE Select: NM_001267571
NM_001267571, NM_001267572, NM_001410988, NM_018421
CCDS: CCDS35080, CCDS59137, CCDS75865, CCDS94445
Canonical transcript exons
ENST00000465784 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001850033 | 98255173 | 98255649 |
| ENSE00003583641 | 98243994 | 98244129 |
| ENSE00003751770 | 98199011 | 98199588 |
| ENSE00003888754 | 98251785 | 98251926 |
| ENSE00003889138 | 98213108 | 98213218 |
| ENSE00003889246 | 98200253 | 98200374 |
| ENSE00003889412 | 98228952 | 98229148 |
| ENSE00003892162 | 98220833 | 98221228 |
| ENSE00003892847 | 98208668 | 98209144 |
| ENSE00003893117 | 98203288 | 98203408 |
| ENSE00003894452 | 98210656 | 98210843 |
| ENSE00003895442 | 98201479 | 98201664 |
| ENSE00003896218 | 98233416 | 98233549 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 91.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.8033 / max 180.9976, expressed in 1712 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101679 | 5.1600 | 1388 |
| 101678 | 3.4847 | 878 |
| 101680 | 3.4497 | 1267 |
| 101676 | 3.1698 | 688 |
| 101677 | 0.5391 | 324 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 91.11 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.05 | gold quality |
| mononuclear cell | CL:0000842 | 90.89 | gold quality |
| leukocyte | CL:0000738 | 90.63 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.45 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.93 | gold quality |
| granulocyte | CL:0000094 | 88.66 | gold quality |
| right lung | UBERON:0002167 | 88.27 | gold quality |
| gingival epithelium | UBERON:0001949 | 88.00 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.27 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.22 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.12 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.98 | gold quality |
| skin of leg | UBERON:0001511 | 86.53 | gold quality |
| gingiva | UBERON:0001828 | 86.01 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.89 | gold quality |
| blood | UBERON:0000178 | 85.47 | gold quality |
| spinal cord | UBERON:0002240 | 84.86 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.34 | gold quality |
| zone of skin | UBERON:0000014 | 83.90 | gold quality |
| lung | UBERON:0002048 | 83.75 | gold quality |
| right lobe of liver | UBERON:0001114 | 83.35 | gold quality |
| minor salivary gland | UBERON:0001830 | 82.12 | gold quality |
| decidua | UBERON:0002450 | 82.05 | gold quality |
| esophagus | UBERON:0001043 | 82.04 | gold quality |
| mouth mucosa | UBERON:0003729 | 82.04 | gold quality |
| vagina | UBERON:0000996 | 81.64 | gold quality |
| tibial nerve | UBERON:0001323 | 80.21 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 80.10 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 79.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.85 |
| E-MTAB-6075 | no | 11.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
47 targeting TBC1D2, 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-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520D-3P | 99.83 | 70.78 | 1676 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
Literature-anchored findings (GeneRIF, showing 3)
- integration of Rac1 and Rab7 activities by Armus provides an important regulatory node for E-cadherin turnover and stability of cell-cell contacts (PMID:20116244)
- TBC1D2/Armus, a GAP of Rab7 GTPase, is reported as a novel target of miR-17. (PMID:23285084)
- Armus expression induces autophagosome accumulation in keratinocytes. (PMID:23562278)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbc1d2 | ENSDARG00000071304 |
| mus_musculus | Tbc1d2 | ENSMUSG00000039813 |
| rattus_norvegicus | Tbc1d2 | ENSRNOG00000023348 |
Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)
Protein
Protein identifiers
TBC1 domain family member 2A — Q9BYX2 (reviewed: Q9BYX2)
Alternative names: Armus, Prostate antigen recognized and identified by SEREX 1
All UniProt accessions (1): Q9BYX2
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion.
Subunit / interactions. Interacts with activated RAC1 and CDH1.
Subcellular location. Cytoplasm. Cytoplasmic vesicle. Cell junction.
Tissue specificity. Expressed in a broad range of tissues, especially in kidney, liver, lung and placenta. Also expressed in keratinocytes and epithelia-containing organs. Isoform 2 is differentially expressed in prostate normal and cancer cells (at protein level).
Miscellaneous. ‘Armus’ means hinge, linker in Latin and ancient Greek.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BYX2-1 | 1, A variant C | yes |
| Q9BYX2-2 | 2, PARIS-1 | |
| Q9BYX2-3 | 3, A | |
| Q9BYX2-4 | 4 | |
| Q9BYX2-5 | 5 | |
| Q9BYX2-6 | 6 |
RefSeq proteins (4): NP_001254500, NP_001254501, NP_001397917, NP_060891 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000195 | Rab-GAP-TBC_dom | Domain |
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR035969 | Rab-GAP_TBC_sf | Homologous_superfamily |
| IPR050302 | Rab_GAP_TBC_domain | Family |
Pfam: PF00169, PF00566
UniProt features (41 total): strand 9, sequence conflict 6, splice variant 5, modified residue 4, region of interest 4, sequence variant 3, helix 3, domain 2, coiled-coil region 2, chain 1, turn 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2DHK | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BYX2-F1 | 75.94 | 0.39 |
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 (4): 1, 436, 915, 920
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8854214 | TBC/RABGAPs |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-9007101 | Rab regulation of trafficking |
MSigDB gene sets: 150 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_GTPASE_ACTIVITY, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, RICKMAN_METASTASIS_DN, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, KOYAMA_SEMA3B_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN
GO Biological Process (1): positive regulation of GTPase activity (GO:0043547)
GO Molecular Function (3): GTPase activator activity (GO:0005096), cadherin binding (GO:0045296), protein binding (GO:0005515)
GO Cellular Component (7): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), cell junction (GO:0030054), cytoplasmic vesicle (GO:0031410), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Rab regulation of trafficking | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| GTPase activity | 2 |
| cytoplasm | 2 |
| regulation of GTPase activity | 1 |
| positive regulation of hydrolase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1598 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBC1D2 | TBC1D15 | Q8TC07 | 696 |
| TBC1D2 | TBC1D5 | Q92609 | 642 |
| TBC1D2 | VAMP7 | P51809 | 551 |
| TBC1D2 | TBC1D25 | Q3MII6 | 550 |
| TBC1D2 | CDC16 | Q13042 | 526 |
| TBC1D2 | LRRK1 | Q38SD2 | 508 |
| TBC1D2 | TBC1D20 | Q96BZ9 | 486 |
| TBC1D2 | TBC1D19 | Q8N5T2 | 477 |
| TBC1D2 | RAB5A | P20339 | 473 |
| TBC1D2 | TBC1D21 | Q8IYX1 | 466 |
| TBC1D2 | TBC1D13 | Q9NVG8 | 464 |
| TBC1D2 | CCZ1B | P86790 | 454 |
| TBC1D2 | MON1A | Q86VX9 | 432 |
| TBC1D2 | PIK3C3 | Q8NEB9 | 429 |
| TBC1D2 | GABARAP | O95166 | 418 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TBC1D2 | CDC42 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AURKA | TBC1D2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BUB1 | TBC1D2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TBC1D2 | CCND1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DCC | TBC1D2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TBC1D2 | MLH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TBC1D2 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| KRT40 | ANKRD36 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D2 | HMMR | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB43 | SPINDOC | psi-mi:“MI:0914”(association) | 0.350 |
| KRT40 | NEURL1B | psi-mi:“MI:0914”(association) | 0.350 |
| RBBP4 | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (41): TBC1D2 (Affinity Capture-MS), TBC1D2 (Affinity Capture-MS), KCTD6 (Two-hybrid), TBC1D2 (Two-hybrid), TBC1D2 (Two-hybrid), TBC1D2 (Two-hybrid), TBC1D2 (Two-hybrid), TBC1D2 (Two-hybrid), TBC1D2 (Two-hybrid), TBC1D2 (Proximity Label-MS), TBC1D2 (Affinity Capture-MS), WBP5 (Affinity Capture-MS), SASS6 (Affinity Capture-MS), TBC1D2 (Affinity Capture-MS), FAM83D (Affinity Capture-MS)
ESM2 similar proteins: A0A8I3NFE2, A0FI79, B1AVH7, B5DFA1, D2H0G5, D7PF45, O00750, O15357, O70143, P29353, P97573, P98083, Q00IB7, Q0IIE2, Q15678, Q16825, Q17R13, Q2I6J0, Q2I6J1, Q2V2M9, Q5JV73, Q5M824, Q5R7W7, Q5U2X5, Q61120, Q62130, Q62136, Q62728, Q62925, Q69Z98, Q6P4S2, Q6P549, Q80TI1, Q8AY68, Q8BMC3, Q8BYW1, Q8IWQ3, Q8K245, Q92529, Q92835
Diamond homologs: A2AWA9, A3KGB4, A6H6A9, A6H8I2, A6QP29, B0R0W9, B1AVH7, B5DFA1, C8VDQ4, D2H0G5, F4HVW5, O60447, O95759, P53258, P58802, P87234, Q0IIM8, Q12317, Q28CB1, Q2KI13, Q3KR37, Q3KR56, Q3U0J8, Q3UYK3, Q4KMP7, Q4QQU7, Q5R372, Q5RAN1, Q5RCW6, Q5SVR0, Q5TC63, Q66K14, Q6C8M8, Q6GL87, Q6GLZ0, Q6P6R7, Q6PBU5, Q6ZT07, Q7T2D0, Q80TI0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 126 |
| Likely benign | 13 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2166 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:98199585:CTTC:C | acceptor_gain | 1.0000 |
| 9:98199586:TTCCT:T | acceptor_loss | 1.0000 |
| 9:98199587:TCCT:T | acceptor_loss | 1.0000 |
| 9:98199588:CCT:C | acceptor_loss | 1.0000 |
| 9:98199589:C:CC | acceptor_gain | 1.0000 |
| 9:98199590:T:A | acceptor_loss | 1.0000 |
| 9:98200247:CCT:C | donor_loss | 1.0000 |
| 9:98200248:CTCA:C | donor_loss | 1.0000 |
| 9:98200249:TCACC:T | donor_loss | 1.0000 |
| 9:98200250:CA:C | donor_loss | 1.0000 |
| 9:98200251:A:AC | donor_gain | 1.0000 |
| 9:98200251:ACC:A | donor_loss | 1.0000 |
| 9:98200252:C:CC | donor_gain | 1.0000 |
| 9:98200252:C:T | donor_loss | 1.0000 |
| 9:98200252:CCGG:C | donor_gain | 1.0000 |
| 9:98200370:ACCAC:A | acceptor_gain | 1.0000 |
| 9:98200371:CCAC:C | acceptor_gain | 1.0000 |
| 9:98200371:CCACC:C | acceptor_gain | 1.0000 |
| 9:98200372:CAC:C | acceptor_gain | 1.0000 |
| 9:98200372:CACC:C | acceptor_gain | 1.0000 |
| 9:98200373:ACC:A | acceptor_loss | 1.0000 |
| 9:98200374:CCT:C | acceptor_loss | 1.0000 |
| 9:98200375:C:CC | acceptor_gain | 1.0000 |
| 9:98200375:CTG:C | acceptor_loss | 1.0000 |
| 9:98200376:T:A | acceptor_loss | 1.0000 |
| 9:98201474:CCTA:C | donor_loss | 1.0000 |
| 9:98201475:CTAC:C | donor_loss | 1.0000 |
| 9:98201476:TA:T | donor_loss | 1.0000 |
| 9:98201477:AC:A | donor_loss | 1.0000 |
| 9:98201478:CCTTC:C | donor_loss | 1.0000 |
AlphaMissense
6049 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:98251886:A:G | L137P | 0.995 |
| 9:98251899:A:G | W133R | 0.995 |
| 9:98251899:A:T | W133R | 0.995 |
| 9:98255387:A:G | L52S | 0.995 |
| 9:98255340:A:G | W68R | 0.994 |
| 9:98255340:A:T | W68R | 0.994 |
| 9:98255210:A:G | F111S | 0.993 |
| 9:98255177:A:G | L122P | 0.992 |
| 9:98255309:A:G | L78P | 0.992 |
| 9:98255393:C:T | G50E | 0.992 |
| 9:98251875:G:T | R141S | 0.990 |
| 9:98251895:A:G | L134P | 0.990 |
| 9:98201508:A:G | W810R | 0.989 |
| 9:98201508:A:T | W810R | 0.989 |
| 9:98251874:C:G | R141P | 0.989 |
| 9:98251897:C:A | W133C | 0.989 |
| 9:98251897:C:G | W133C | 0.989 |
| 9:98255335:G:C | F69L | 0.989 |
| 9:98255335:G:T | F69L | 0.989 |
| 9:98255337:A:G | F69L | 0.989 |
| 9:98255204:A:G | I113T | 0.988 |
| 9:98255343:G:T | R67S | 0.988 |
| 9:98208915:A:G | W635R | 0.987 |
| 9:98208915:A:T | W635R | 0.987 |
| 9:98243997:A:G | I215T | 0.987 |
| 9:98220970:C:G | A413P | 0.986 |
| 9:98255204:A:C | I113S | 0.986 |
| 9:98255342:C:G | R67P | 0.986 |
| 9:98255394:C:A | G50W | 0.986 |
| 9:98255309:A:T | L78Q | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000079747 (9:98222368 G>T), RS1000115465 (9:98236255 A>G), RS1000140464 (9:98252474 C>G), RS1000153676 (9:98216401 C>T), RS1000191799 (9:98207386 T>C), RS1000193805 (9:98231261 A>G), RS1000235418 (9:98236603 A>G), RS1000365772 (9:98212846 A>G), RS1000415364 (9:98200579 A>C,G), RS1000574539 (9:98230173 C>A), RS1000629048 (9:98223732 G>A), RS1000724151 (9:98254634 C>G,T), RS1000771987 (9:98225123 C>T), RS1000818231 (9:98249647 A>G), RS1000821216 (9:98213141 C>A)
Disease associations
OMIM: gene MIM:609871 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002963_6 | Post-traumatic stress disorder | 1.000000e-06 |
| GCST003123_22 | Severe influenza A (H1N1) infection | 4.000000e-08 |
| GCST009391_1224 | Metabolite levels | 6.000000e-06 |
| GCST009391_1234 | Metabolite levels | 2.000000e-06 |
| GCST009557_13 | Rate of ventricular enlargement | 4.000000e-06 |
| GCST012490_398 | Femur bone mineral density x serum urate levels interaction | 1.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001488 | influenza A (H1N1) |
| EFO:0010421 | triacylglycerol 54:3 measurement |
| EFO:0010422 | triacylglycerol 54:4 measurement |
| EFO:0010570 | ventricular enlargement measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases mutagenesis | 3 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation, increases expression | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Arsenic | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| avobenzone | increases expression | 1 |
| Am 580 | increases 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, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Resveratrol | 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): post-traumatic stress disorder