TUBG2
gene geneOn this page
Summary
TUBG2 (tubulin gamma 2, HGNC:12419) is a protein-coding gene on chromosome 17q21.2, encoding Tubulin gamma-2 chain (Q9NRH3). Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers.
Predicted to enable GTP binding activity and microtubule nucleator activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic sister chromatid segregation. Located in microtubule.
Source: NCBI Gene 27175 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_016437
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12419 |
| Approved symbol | TUBG2 |
| Name | tubulin gamma 2 |
| Location | 17q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000037042 |
| Ensembl biotype | protein_coding |
| OMIM | 605785 |
| Entrez | 27175 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 14 protein_coding, 2 retained_intron
ENST00000251412, ENST00000588870, ENST00000590396, ENST00000854884, ENST00000854885, ENST00000854886, ENST00000854887, ENST00000854888, ENST00000854889, ENST00000854890, ENST00000916762, ENST00000916763, ENST00000968232, ENST00000968233, ENST00000968234, ENST00000968235
RefSeq mRNA: 2 — MANE Select: NM_016437
NM_001320509, NM_016437
CCDS: CCDS32658
Canonical transcript exons
ENST00000251412 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000898989 | 42659284 | 42659552 |
| ENSE00001179012 | 42666603 | 42667006 |
| ENSE00002385959 | 42659834 | 42659946 |
| ENSE00002408913 | 42662973 | 42663052 |
| ENSE00003515886 | 42663377 | 42663503 |
| ENSE00003525664 | 42665678 | 42665827 |
| ENSE00003573002 | 42660149 | 42660316 |
| ENSE00003604960 | 42665476 | 42665562 |
| ENSE00003672566 | 42666323 | 42666484 |
| ENSE00003686352 | 42666087 | 42666239 |
| ENSE00003692168 | 42660639 | 42660707 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 98.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5262 / max 294.0670, expressed in 1699 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160973 | 12.3016 | 1676 |
| 160974 | 7.4290 | 1482 |
| 160975 | 0.4910 | 254 |
| 160972 | 0.3047 | 133 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 98.02 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.49 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.46 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.36 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.23 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.17 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.15 | gold quality |
| body of pancreas | UBERON:0001150 | 96.53 | gold quality |
| amygdala | UBERON:0001876 | 96.27 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.12 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.05 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.03 | gold quality |
| cerebellum | UBERON:0002037 | 95.81 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.80 | gold quality |
| oocyte | CL:0000023 | 95.68 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.47 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.10 | gold quality |
| tibial nerve | UBERON:0001323 | 95.10 | gold quality |
| putamen | UBERON:0001874 | 95.02 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.96 | gold quality |
| frontal cortex | UBERON:0001870 | 94.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.79 | gold quality |
| neocortex | UBERON:0001950 | 94.75 | gold quality |
| spinal cord | UBERON:0002240 | 94.72 | gold quality |
| right coronary artery | UBERON:0001625 | 94.60 | gold quality |
| body of stomach | UBERON:0001161 | 94.43 | gold quality |
| ectocervix | UBERON:0012249 | 94.14 | gold quality |
| pituitary gland | UBERON:0000007 | 93.96 | gold quality |
| body of uterus | UBERON:0009853 | 93.96 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
19 targeting TUBG2, 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-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-7854-3P | 99.08 | 66.26 | 1117 |
| HSA-MIR-3160-3P | 99.07 | 64.78 | 955 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-6862-5P | 97.48 | 64.84 | 713 |
| HSA-MIR-409-5P | 97.31 | 68.07 | 364 |
| HSA-MIR-2909 | 96.36 | 67.30 | 562 |
| HSA-MIR-323B-5P | 96.12 | 66.39 | 472 |
| HSA-MIR-3622B-5P | 94.62 | 64.58 | 835 |
Literature-anchored findings (GeneRIF, showing 4)
- gamma-tubulin 2 is able to nucleate microtubules and substitute for gamma-tubulin 1 (PMID:22235350)
- Our results reveal for the first time an increased expression of TUBG1 and TUBG2 in lung cancer (PMID:22806905)
- expression of gamma-tubulin2 along with gamma-tubulin1 and a novel TUBG2 splice variant are identified. (PMID:27015882)
- that in the face of predominant gamma-tubulin-1 expression, the accumulation of gamma-tubulin-2 in mature neurons and neuroblastoma cells during oxidative stress may denote a prosurvival role of gamma-tubulin-2 in neurons (PMID:28119396)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tubg2 | ENSMUSG00000045007 |
| rattus_norvegicus | Tubg1 | ENSRNOG00000006494 |
Paralogs (23): TUBE1 (ENSG00000074935), TUBA3D (ENSG00000075886), TUBB1 (ENSG00000101162), TUBB4A (ENSG00000104833), TUBD1 (ENSG00000108423), TUBA1B (ENSG00000123416), TUBA4A (ENSG00000127824), TUBG1 (ENSG00000131462), TUBB2A (ENSG00000137267), TUBB2B (ENSG00000137285), TUBA3E (ENSG00000152086), TUBA1A (ENSG00000167552), TUBA1C (ENSG00000167553), TUBB8B (ENSG00000173213), TUBB6 (ENSG00000176014), TUBAL3 (ENSG00000178462), TUBA8 (ENSG00000183785), TUBB4B (ENSG00000188229), TUBB (ENSG00000196230), TUBA3C (ENSG00000198033), TUBA4B (ENSG00000243910), TUBB3 (ENSG00000258947), TUBB8 (ENSG00000261456)
Protein
Protein identifiers
Tubulin gamma-2 chain — Q9NRH3 (reviewed: Q9NRH3)
Alternative names: Gamma-2-tubulin
All UniProt accessions (2): A0A1B4Z394, Q9NRH3
UniProt curated annotations — full annotation on UniProt →
Function. Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers. Gamma-tubulin is a key component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation. The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation.
Subunit / interactions. Component of the gamma-tubulin ring complex (gTuRC) consisting of TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6 and gamma-tubulin TUBG1 or TUBG2. TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6 assemble in a 5:5:2:1:1 stoichiometry; each is associated with a gamma-tubulin, thereby arranging 14 gamma-tubulins in a helical manner. Gamma-tubulin at the first position is blocked by TUBGCP3 at the last position, allowing 13 protafilaments to grow into a microtubule. Interacts with alpha-beta tubulin heterodimers; the interaction allows microtubules to nucleate from the gTuRC.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Post-translational modifications. Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome.
Similarity. Belongs to the tubulin family.
RefSeq proteins (2): NP_001307438, NP_057521* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000217 | Tubulin | Family |
| IPR002454 | Gamma_tubulin | Family |
| IPR003008 | Tubulin_FtsZ_GTPase | Domain |
| IPR008280 | Tub_FtsZ_C | Homologous_superfamily |
| IPR017975 | Tubulin_CS | Conserved_site |
| IPR018316 | Tubulin/FtsZ_2-layer-sand-dom | Domain |
| IPR023123 | Tubulin_C | Homologous_superfamily |
| IPR036525 | Tubulin/FtsZ_GTPase_sf | Homologous_superfamily |
| IPR037103 | Tubulin/FtsZ-like_C | Homologous_superfamily |
Pfam: PF00091, PF03953
UniProt features (4 total): chain 1, binding site 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRH3-F1 | 91.68 | 0.79 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 142–148
Post-translational modifications (1): 131
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-380287 | Centrosome maturation |
| R-HSA-453274 | Mitotic G2-G2/M phases |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69275 | G2/M Transition |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 119 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, TGCGCANK_UNKNOWN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_MICROTUBULE_NUCLEATION, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, PATIL_LIVER_CANCER, GOBP_ORGANELLE_FISSION, GOCC_CENTROSOME, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_MITOTIC_CELL_CYCLE, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, HAN_SATB1_TARGETS_DN
GO Biological Process (7): mitotic sister chromatid segregation (GO:0000070), meiotic spindle organization (GO:0000212), mitotic cell cycle (GO:0000278), microtubule nucleation (GO:0007020), mitotic spindle organization (GO:0007052), cytoplasmic microtubule organization (GO:0031122), microtubule-based process (GO:0007017)
GO Molecular Function (5): structural molecule activity (GO:0005198), GTP binding (GO:0005525), microtubule nucleator activity (GO:0140490), nucleotide binding (GO:0000166), structural constituent of cytoskeleton (GO:0005200)
GO Cellular Component (13): pericentriolar material (GO:0000242), gamma-tubulin ring complex (GO:0000931), nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), microtubule (GO:0005874), spindle microtubule (GO:0005876), cytoplasmic microtubule (GO:0005881), microtubule cytoskeleton (GO:0015630), gamma-tubulin complex (GO:0000930), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Cell Cycle, Mitotic | 2 |
| Centrosome maturation | 1 |
| Mitotic Prometaphase | 1 |
| G2/M Transition | 1 |
| M Phase | 1 |
| Mitotic G2-G2/M phases | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| mitotic nuclear division | 2 |
| spindle organization | 2 |
| microtubule cytoskeleton organization | 2 |
| cytoskeleton | 2 |
| microtubule organizing center | 2 |
| microtubule cytoskeleton | 2 |
| intracellular membraneless organelle | 2 |
| cytoplasm | 2 |
| microtubule | 2 |
| sister chromatid segregation | 1 |
| mitotic cell cycle process | 1 |
| meiotic cell cycle | 1 |
| meiotic cell cycle process | 1 |
| cell cycle | 1 |
| microtubule polymerization | 1 |
| mitotic cell cycle | 1 |
| microtubule cytoskeleton organization involved in mitosis | 1 |
| supramolecular fiber organization | 1 |
| cellular process | 1 |
| molecular_function | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| molecular template activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| structural molecule activity | 1 |
| cytoskeleton organization | 1 |
| centrosome | 1 |
| gamma-tubulin complex | 1 |
| gamma-tubulin small complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| polymeric cytoskeletal fiber | 1 |
| spindle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1166 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TUBG2 | TUBGCP2 | Q9BSJ2 | 760 |
| TUBG2 | TUBGCP3 | Q96CW5 | 750 |
| TUBG2 | TUBGCP4 | Q9UGJ1 | 692 |
| TUBG2 | TUBGCP5 | Q96RT8 | 690 |
| TUBG2 | TUBGCP6 | Q96RT7 | 683 |
| TUBG2 | ZNF614 | Q8N883 | 508 |
| TUBG2 | CAMSAP1 | Q5T5Y3 | 495 |
| TUBG2 | CCNYL1 | Q8N7R7 | 465 |
| TUBG2 | CLRN3 | Q8NCR9 | 463 |
| TUBG2 | ZNF211 | Q13398 | 445 |
| TUBG2 | CD300LB | A8K4G0 | 431 |
| TUBG2 | MZT1 | Q08AG7 | 430 |
| TUBG2 | NEDD1 | Q8NHV4 | 428 |
| TUBG2 | CEP164 | Q9UPV0 | 412 |
| TUBG2 | CYB5R2 | Q6BCY4 | 410 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TUBGCP5 | TUBG1 | psi-mi:“MI:0914”(association) | 0.840 |
| TUBG1 | TUBG1 | psi-mi:“MI:2364”(proximity) | 0.760 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| TUBG2 | TUBGCP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RAF1 | CALU | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| TUBG2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.530 |
| TUBG2 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| Mzt2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Haus6 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | TUBG2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPK1 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC5 | HACD3 | psi-mi:“MI:0914”(association) | 0.350 |
| PA | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| PEX14 | psi-mi:“MI:0914”(association) | 0.350 | |
| PEX14 | PEX12 | psi-mi:“MI:0914”(association) | 0.350 |
| LILRB4 | HIP1R | psi-mi:“MI:0914”(association) | 0.350 |
| ATF6 | psi-mi:“MI:2364”(proximity) | 0.270 | |
| FHIP2B | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TUBG2 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| PTP4A3 | TUBG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CIAO1 | TUBG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DISC1 | TUBG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| LCOR | TUBG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (61): TUBGCP5 (Affinity Capture-MS), MZT2A (Affinity Capture-MS), TUBGCP4 (Affinity Capture-MS), TUBGCP6 (Affinity Capture-MS), TUBG1 (Affinity Capture-MS), TUBGCP3 (Affinity Capture-MS), MZT2B (Affinity Capture-MS), TUBGCP2 (Affinity Capture-MS), NME7 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), PDCL (Affinity Capture-MS), TCP1 (Affinity Capture-MS), CCT6B (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8EV45, C9WPN6, F1QGW6, F6RQL9, O73723, O77676, P00516, P0C605, P20461, P23258, P23330, P31321, P32392, P35250, P41091, P53033, P61157, P61158, P62482, P62483, P81795, P83887, P83888, Q05B83, Q0VCD2, Q13126, Q13303, Q13976, Q27955, Q2KHU8, Q2KJ81, Q2VIR3, Q32KM1, Q4V7C7, Q5R797, Q5R8R1, Q5ZHS1, Q5ZMS3, Q641P0, Q641W4
Diamond homologs: A0A644F0Y1, O04386, O17449, O49068, O93807, P04690, P05220, P07437, P10653, P10875, P10876, P10878, P11482, P11833, P12456, P14140, P14643, P18695, P20365, P22012, P22013, P22852, P23257, P23258, P23330, P25295, P31863, P32348, P32882, P32925, P34475, P34785, P34786, P34787, P38557, P38558, P40633, P40904, P41741, P42271
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1940 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:42659551:GA:G | donor_gain | 1.0000 |
| 17:42659553:G:GG | donor_gain | 1.0000 |
| 17:42659929:G:GT | donor_gain | 1.0000 |
| 17:42660002:G:GT | donor_gain | 1.0000 |
| 17:42660279:G:GT | donor_gain | 1.0000 |
| 17:42660423:G:GT | donor_gain | 1.0000 |
| 17:42660691:G:GT | donor_gain | 1.0000 |
| 17:42660691:G:T | donor_gain | 1.0000 |
| 17:42660705:G:GT | donor_gain | 1.0000 |
| 17:42660710:G:GT | donor_gain | 1.0000 |
| 17:42660714:T:G | donor_gain | 1.0000 |
| 17:42663371:TCTCA:T | acceptor_loss | 1.0000 |
| 17:42663372:CTCA:C | acceptor_loss | 1.0000 |
| 17:42663499:GTGTG:G | donor_gain | 1.0000 |
| 17:42663500:TGTGG:T | donor_loss | 1.0000 |
| 17:42663501:GTG:G | donor_gain | 1.0000 |
| 17:42663504:G:GG | donor_gain | 1.0000 |
| 17:42663504:GTGAG:G | donor_loss | 1.0000 |
| 17:42663505:T:G | donor_loss | 1.0000 |
| 17:42665472:CCAG:C | acceptor_loss | 1.0000 |
| 17:42665473:CAGG:C | acceptor_loss | 1.0000 |
| 17:42665474:A:G | acceptor_loss | 1.0000 |
| 17:42665474:AGGT:A | acceptor_gain | 1.0000 |
| 17:42665475:GGT:G | acceptor_gain | 1.0000 |
| 17:42665475:GGTG:G | acceptor_gain | 1.0000 |
| 17:42665595:G:GT | donor_gain | 1.0000 |
| 17:42665595:G:T | donor_gain | 1.0000 |
| 17:42665819:GACCA:G | donor_gain | 1.0000 |
| 17:42665824:G:GG | donor_gain | 1.0000 |
| 17:42665828:G:GG | donor_gain | 1.0000 |
AlphaMissense
2975 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:42660171:C:A | P62H | 1.000 |
| 17:42660296:T:A | W104R | 1.000 |
| 17:42660296:T:C | W104R | 1.000 |
| 17:42660679:G:C | R124P | 1.000 |
| 17:42660684:G:C | A126P | 1.000 |
| 17:42663016:G:A | G148D | 1.000 |
| 17:42666332:A:C | S336R | 1.000 |
| 17:42666334:C:A | S336R | 1.000 |
| 17:42666334:C:G | S336R | 1.000 |
| 17:42666377:T:A | W351R | 1.000 |
| 17:42666377:T:C | W351R | 1.000 |
| 17:42666449:G:T | G375W | 1.000 |
| 17:42666450:G:A | G375E | 1.000 |
| 17:42666654:T:C | F404L | 1.000 |
| 17:42666656:C:A | F404L | 1.000 |
| 17:42666656:C:G | F404L | 1.000 |
| 17:42659534:G:C | G11R | 0.999 |
| 17:42659535:G:A | G11D | 0.999 |
| 17:42659535:G:T | G11V | 0.999 |
| 17:42659542:C:G | C13W | 0.999 |
| 17:42659544:G:A | G14D | 0.999 |
| 17:42659544:G:T | G14V | 0.999 |
| 17:42659836:G:T | G18W | 0.999 |
| 17:42659848:T:A | W22R | 0.999 |
| 17:42659848:T:C | W22R | 0.999 |
| 17:42659858:T:C | L25P | 0.999 |
| 17:42659876:T:G | I31S | 0.999 |
| 17:42659887:G:C | G35R | 0.999 |
| 17:42659939:T:C | F52S | 0.999 |
| 17:42660171:C:G | P62R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000803601 (17:42662068 G>T), RS1000824486 (17:42663078 A>G), RS1000881476 (17:42666975 T>C), RS1000981577 (17:42661142 A>G), RS1001424476 (17:42664608 A>G), RS1002166665 (17:42657348 A>C), RS1002756228 (17:42659041 G>C,T), RS1002898029 (17:42661373 C>A,T), RS1002930560 (17:42661665 A>C), RS1003801426 (17:42659655 C>T), RS1004221651 (17:42659253 C>A,T), RS1004388688 (17:42659434 G>A), RS1005148720 (17:42664554 A>G), RS1005363389 (17:42666528 G>A), RS1005452923 (17:42663836 G>A,T)
Disease associations
OMIM: gene MIM:605785 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008529_19 | Tea consumption | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010091 | tea consumption measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, increases abundance | 3 |
| Nickel | decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| abrine | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.