TACC2
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Also known as AZU-1ECTACC
Summary
TACC2 (transforming acidic coiled-coil containing protein 2, HGNC:11523) is a protein-coding gene on chromosome 10q26.13, encoding Transforming acidic coiled-coil-containing protein 2 (O95359). Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome.
Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 10579 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 538 total — 1 pathogenic
- MANE Select transcript:
NM_206862
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11523 |
| Approved symbol | TACC2 |
| Name | transforming acidic coiled-coil containing protein 2 |
| Location | 10q26.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AZU-1, ECTACC |
| Ensembl gene | ENSG00000138162 |
| Ensembl biotype | protein_coding |
| OMIM | 605302 |
| Entrez | 10579 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 25 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000260733, ENST00000334433, ENST00000358010, ENST00000360561, ENST00000368997, ENST00000368999, ENST00000369000, ENST00000369001, ENST00000369004, ENST00000369005, ENST00000440764, ENST00000453444, ENST00000465600, ENST00000474014, ENST00000489754, ENST00000490979, ENST00000491540, ENST00000492237, ENST00000492689, ENST00000493951, ENST00000496913, ENST00000498721, ENST00000503769, ENST00000505639, ENST00000508411, ENST00000513429, ENST00000514539, ENST00000515273, ENST00000515603, ENST00000635597, ENST00000866908, ENST00000866909, ENST00000866910, ENST00000866911, ENST00000866912
RefSeq mRNA: 8 — MANE Select: NM_206862
NM_001291876, NM_001291877, NM_001291878, NM_001291879, NM_006997, NM_206860, NM_206861, NM_206862
CCDS: CCDS7625, CCDS7626, CCDS7627, CCDS7628, CCDS76348, CCDS76349, CCDS76351, CCDS76352
Canonical transcript exons
ENST00000369005 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000933490 | 122229346 | 122229486 |
| ENSE00000933491 | 122230351 | 122230440 |
| ENSE00001448580 | 122253991 | 122254542 |
| ENSE00001745579 | 122088478 | 122088591 |
| ENSE00001803587 | 122082647 | 122087959 |
| ENSE00003461495 | 122143572 | 122143706 |
| ENSE00003484550 | 122227837 | 122228008 |
| ENSE00003484960 | 122021937 | 122022014 |
| ENSE00003495364 | 122226366 | 122226481 |
| ENSE00003496305 | 122195040 | 122195176 |
| ENSE00003527935 | 122132609 | 122132734 |
| ENSE00003533140 | 122241958 | 122242001 |
| ENSE00003558460 | 122216627 | 122216828 |
| ENSE00003581496 | 122237961 | 122238037 |
| ENSE00003596113 | 122215391 | 122215451 |
| ENSE00003608201 | 122249544 | 122249664 |
| ENSE00003608463 | 122249050 | 122249156 |
| ENSE00003620652 | 122237395 | 122237538 |
| ENSE00003663277 | 122224726 | 122224787 |
| ENSE00003684619 | 122248643 | 122248803 |
| ENSE00003688439 | 122050438 | 122050550 |
| ENSE00003689066 | 122210397 | 122211708 |
| ENSE00003845911 | 121989163 | 121989488 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 99.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5571 / max 362.7410, expressed in 1487 samples.
FANTOM5 promoters (29 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107414 | 5.2929 | 1350 |
| 107419 | 1.7040 | 305 |
| 107412 | 1.6926 | 872 |
| 107421 | 1.4626 | 261 |
| 107411 | 1.1368 | 583 |
| 107396 | 0.6917 | 71 |
| 107418 | 0.5581 | 253 |
| 107402 | 0.4626 | 125 |
| 107395 | 0.4129 | 70 |
| 107417 | 0.4004 | 58 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.05 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.83 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.74 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.60 | gold quality |
| biceps brachii | UBERON:0001507 | 98.58 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.58 | gold quality |
| skin of leg | UBERON:0001511 | 98.48 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.46 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.40 | gold quality |
| muscle of leg | UBERON:0001383 | 98.39 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.38 | gold quality |
| body of tongue | UBERON:0011876 | 98.38 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.34 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.22 | gold quality |
| zone of skin | UBERON:0000014 | 98.21 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.07 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.06 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.79 | gold quality |
| right uterine tube | UBERON:0001302 | 97.77 | gold quality |
| muscle organ | UBERON:0001630 | 97.75 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 97.75 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.57 | gold quality |
| heart | UBERON:0000948 | 97.51 | gold quality |
| bronchial epithelial cell | CL:0002328 | 97.50 | gold quality |
| deltoid | UBERON:0001476 | 97.50 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.39 | gold quality |
| muscle tissue | UBERON:0002385 | 97.28 | gold quality |
| lower esophagus | UBERON:0013473 | 97.21 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.20 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 11.14 |
| E-MTAB-7303 | no | 497.15 |
| E-GEOD-124858 | no | 165.22 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR
miRNA regulators (miRDB)
77 targeting TACC2, 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-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
Literature-anchored findings (GeneRIF, showing 14)
- Defects in TACC2 expression may affect gene regulation, thus contributing to the pathogenesis of some tumors. (PMID:12620397)
- GCN5L2 is a TACC2-binding protein. (PMID:14767476)
- Centrosomal TACC2 is required for mitotic spindle maintenance. (PMID:15304323)
- Simian virus 40 large T antigen interacting with TACC2 is involved in stabilizing microtubules in mitosis. (PMID:19671663)
- TACC2 may mediate an oncogenic effect on breast cancer cells. (PMID:20335520)
- Results revealed 3 genes highly predictive of event-free survival (EFS), beyond age and MLL status: FLT3, IRX2, and TACC2. (PMID:22210879)
- Data suggest that TACC2 is highly expressed in prostate cancer cells and contributes to cell cycle progression and cell proliferation in androgen-nonresponsive prostate cancer cells; overexpression of TACC2 leads to recurrence of prostate cancer. (PMID:22456197)
- Differential expression of the transcripts TACC2 connects ubiquitin-proteasome system with infection-inflammation in preterm births and preterm premature rupture of membranes. (PMID:25884766)
- These results suggest that TACC2 plays an important role in the cell proliferation of breast carcinoma and therefore immunohistochemical TACC2 status is a candidate of worse prognostic factor in breast cancer cases. (PMID:27333920)
- TACC2 protein is expressed mainly in the nucleus of the endometrial cancer cells. (PMID:29074988)
- This finding suggests that TACC2 may be a useful tool as a candidate biomarker to predict the recurrence and prognosis of hepatocellular carcinoma. (PMID:29843208)
- Cigarette smoke exposure enhances transforming acidic coiled-coil-containing protein 2 turnover and thereby promotes emphysema. (PMID:31996486)
- Nanopore sequencing reveals TACC2 locus complexity and diversity of isoforms transcribed from an intronic promoter. (PMID:33931666)
- A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals. (PMID:38769351)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000062790 | |
| mus_musculus | Tacc2 | ENSMUSG00000030852 |
| rattus_norvegicus | Tacc2 | ENSRNOG00000020457 |
| drosophila_melanogaster | tacc | FBGN0026620 |
Paralogs (2): TACC3 (ENSG00000013810), TACC1 (ENSG00000147526)
Protein
Protein identifiers
Transforming acidic coiled-coil-containing protein 2 — O95359 (reviewed: O95359)
Alternative names: Anti-Zuai-1
All UniProt accessions (14): A0A0U1RRM9, O95359, D6RAA5, E7EMZ9, E9PBC6, E9PGB3, H0Y8P9, H0Y911, H0Y954, H0Y9C3, H0Y9Y7, H0YA73, Q4VXL4, Q4VXL8
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors. May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker.
Subunit / interactions. Interacts with CCDC100/CEP120. Interacts with microtubules. Interacts with YEATS4, GCN5L2 and PCAF.
Subcellular location. Cytoplasm. Nucleus. Cytoskeleton. Microtubule organizing center. Centrosome.
Tissue specificity. Strongly expressed in heart, skeletal muscle, brain, prostate, thyroid and trachea.
Post-translational modifications. Phosphorylated by TTK; which is required for localization in centrosome.
Similarity. Belongs to the TACC family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95359-4 | 4, Long, TACC2s | yes |
| O95359-1 | 1, Short | |
| O95359-2 | 2 | |
| O95359-3 | 3, ECTACC | |
| O95359-5 | 5, TACC21 | |
| O95359-6 | 6 |
RefSeq proteins (8): NP_001278805, NP_001278806, NP_001278807, NP_001278808, NP_008928, NP_996742, NP_996743, NP_996744* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007707 | TACC_C | Domain |
| IPR039915 | TACC | Family |
Pfam: PF05010
UniProt features (105 total): modified residue 36, compositionally biased region 21, sequence variant 18, region of interest 16, splice variant 8, sequence conflict 2, coiled-coil region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for O95359 — 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): 325, 2625, 197, 201, 269, 493, 561, 571, 575, 758, 962, 1025, 1267, 1313, 1562, 2072, 2161, 2226, 2246, 2256 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 267 (showing top):
GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, MORF_FLT1, MODULE_45, AREB6_03, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, RACCACAR_AML_Q6, LUCAS_HNF4A_TARGETS_UP, ATGCAGT_MIR217, MORF_ESR1, MORF_RAD51L3, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_FOREBRAIN_DEVELOPMENT, MODULE_66, MODULE_118, ONKEN_UVEAL_MELANOMA_UP
GO Biological Process (4): microtubule cytoskeleton organization (GO:0000226), mitotic spindle organization (GO:0007052), nuclear migration (GO:0007097), cerebral cortex development (GO:0021987)
GO Molecular Function (1): nuclear receptor binding (GO:0016922)
GO Cellular Component (7): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), nucleus (GO:0005634), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| mitotic cell cycle | 1 |
| spindle organization | 1 |
| microtubule cytoskeleton organization involved in mitosis | 1 |
| intracellular transport | 1 |
| nucleus localization | 1 |
| establishment of organelle localization | 1 |
| pallium development | 1 |
| anatomical structure development | 1 |
| RNA polymerase II-specific DNA-binding transcription factor binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1663 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TACC2 | CKAP5 | Q14008 | 768 |
| TACC2 | FGFR2 | P18443 | 730 |
| TACC2 | FGFR1 | P11362 | 651 |
| TACC2 | FGFR3 | P22607 | 623 |
| TACC2 | TACC3 | Q9Y6A5 | 574 |
| TACC2 | YEATS4 | O95619 | 542 |
| TACC2 | AURKC | Q9UQB9 | 520 |
| TACC2 | LMOD1 | P29536 | 492 |
| TACC2 | PRCP | P42785 | 475 |
| TACC2 | CEP120 | Q8N960 | 471 |
| TACC2 | CEP128 | Q6ZU80 | 467 |
| TACC2 | H1-10 | Q92522 | 465 |
| TACC2 | GYG1 | P46976 | 463 |
| TACC2 | AURKA | O14965 | 462 |
| TACC2 | CNTRL | Q7Z7A1 | 462 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| Haus4 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | TRAK2 | psi-mi:“MI:0914”(association) | 0.530 |
| TACC2 | TTK | psi-mi:“MI:0915”(physical association) | 0.460 |
| TTK | TACC2 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| Dlg4 | TACC2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TACC2 | FMR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TACC2 | FXR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TACC2 | SMARCA2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAP4 | TUBA1B | psi-mi:“MI:0914”(association) | 0.350 |
| TUBA1B | SLAIN2 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBB4B | TUBA1B | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAE | DEPDC5 | psi-mi:“MI:0914”(association) | 0.350 |
| TACC1 | TACC2 | psi-mi:“MI:0914”(association) | 0.350 |
| PAXX | TACC2 | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TOMM20 | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RET | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FTSJ1 | TACC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DISC1 | TACC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HMG20B | TACC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (99): TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-RNA), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), TACC2 (Proximity Label-MS), TACC2 (Proximity Label-MS)
ESM2 similar proteins: A0A1B0GUA9, A0JNH1, A2TJV2, A5PJD3, A5YM69, A6QP92, A7YY35, A8MUA0, D3Z1D3, E9Q3S4, E9Q7D5, M0RD54, O02665, O94854, O95359, P43359, P58871, Q0VDD7, Q0VF49, Q12774, Q3KR64, Q4R736, Q5PSV9, Q5QJ38, Q5R5G4, Q5RJL0, Q5SWP3, Q5ZK13, Q69ZZ9, Q6AXX2, Q6AYA8, Q6DIA7, Q6NXZ1, Q6ZRC1, Q711Q0, Q80VY2, Q86TB3, Q8BHB7, Q8BI84, Q8VBT6
Diamond homologs: O75410, O95359, Q6Y685, Q9JJ11, Q9JJG0, Q9PTG8, Q9Y6A5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Signaling by Rho GTPases | 5 | 9.5× | 4e-03 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 5 | 9.3× | 4e-03 |
| Viral Infection Pathways | 5 | 8.6× | 4e-03 |
| Infectious disease | 5 | 6.9× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| microtubule cytoskeleton organization | 5 | 23.3× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
538 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 423 |
| Likely benign | 60 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3148924 | GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 | Pathogenic |
SpliceAI
6121 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:122021935:A:AG | acceptor_gain | 1.0000 |
| 10:122021936:G:GA | acceptor_gain | 1.0000 |
| 10:122050430:T:TA | acceptor_gain | 1.0000 |
| 10:122132606:CA:C | acceptor_loss | 1.0000 |
| 10:122132607:A:AG | acceptor_gain | 1.0000 |
| 10:122132607:A:AT | acceptor_loss | 1.0000 |
| 10:122132608:G:GC | acceptor_gain | 1.0000 |
| 10:122132608:GTTC:G | acceptor_gain | 1.0000 |
| 10:122132608:GTTCA:G | acceptor_gain | 1.0000 |
| 10:122132732:GAG:G | donor_gain | 1.0000 |
| 10:122132732:GAGG:G | donor_loss | 1.0000 |
| 10:122132734:GGTA:G | donor_loss | 1.0000 |
| 10:122195039:GGA:G | acceptor_gain | 1.0000 |
| 10:122210392:CCCA:C | acceptor_loss | 1.0000 |
| 10:122210393:CCA:C | acceptor_loss | 1.0000 |
| 10:122210394:CA:C | acceptor_loss | 1.0000 |
| 10:122210395:A:AC | acceptor_loss | 1.0000 |
| 10:122210395:A:AG | acceptor_gain | 1.0000 |
| 10:122210395:AG:A | acceptor_gain | 1.0000 |
| 10:122210396:G:GT | acceptor_gain | 1.0000 |
| 10:122210396:GG:G | acceptor_gain | 1.0000 |
| 10:122210396:GGAT:G | acceptor_gain | 1.0000 |
| 10:122211706:GAC:G | donor_gain | 1.0000 |
| 10:122211709:G:GG | donor_gain | 1.0000 |
| 10:122216622:TGCA:T | acceptor_loss | 1.0000 |
| 10:122216623:GCA:G | acceptor_loss | 1.0000 |
| 10:122216624:CA:C | acceptor_loss | 1.0000 |
| 10:122216625:A:AC | acceptor_loss | 1.0000 |
| 10:122216625:A:AG | acceptor_gain | 1.0000 |
| 10:122216625:AG:A | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000023991 (10:122144670 C>A,T), RS1000023994 (10:122119730 A>G), RS1000029528 (10:122224967 C>A), RS1000059851 (10:122073994 A>G), RS1000060539 (10:122138615 T>C), RS1000075960 (10:122225727 G>A), RS1000080384 (10:122150151 G>C), RS1000101396 (10:122068247 A>G), RS1000112629 (10:122206324 C>A,T), RS1000118300 (10:122144402 A>G), RS1000134550 (10:122074258 T>G), RS1000153667 (10:122162549 T>C), RS1000188990 (10:122219043 G>A), RS1000189850 (10:122054939 G>A), RS1000192046 (10:122133440 T>C)
Disease associations
OMIM: gene MIM:605302 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001712_13 | Myopia (pathological) | 2.000000e-07 |
| GCST001762_63 | Obesity-related traits | 3.000000e-06 |
| GCST003944_31 | Hepcidin/ferritin ratio | 7.000000e-06 |
| GCST005348_126 | Total body bone mineral density | 3.000000e-09 |
| GCST005348_201 | Total body bone mineral density | 4.000000e-11 |
| GCST006171_15 | Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test) | 1.000000e-08 |
| GCST007448_13 | Normal facial asymmetry (angle of surface orientation score) | 3.000000e-14 |
| GCST007448_4 | Normal facial asymmetry (angle of surface orientation score) | 2.000000e-12 |
| GCST008424_3 | Opioid dependence | 1.000000e-07 |
| GCST008424_4 | Opioid dependence | 2.000000e-07 |
| GCST008424_6 | Opioid dependence | 3.000000e-07 |
| GCST008869_4 | Metabolite risk score for predicting weight gain | 3.000000e-08 |
| GCST012155_1 | Chronic lymphocytic leukemia (time to first treatment) | 3.000000e-09 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004207 | pathological myopia |
| EFO:0007901 | hepcidin:ferritin ratio |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009751 | facial asymmetry measurement |
| EFO:0004566 | body weight gain |
| EFO:0004725 | metabolite measurement |
| EFO:0004920 | progression free survival |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
70 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | increases expression, affects expression, decreases expression, decreases methylation | 4 |
| Valproic Acid | affects expression, decreases methylation, affects cotreatment, increases expression | 3 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Vehicle Emissions | decreases methylation, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | affects methylation, increases methylation | 2 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| ginger extract | decreases expression, increases abundance | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| alpha-pinene | increases expression, increases abundance, affects cotreatment | 1 |
| bisphenol A | affects methylation | 1 |
| lead acetate | decreases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| cupric chloride | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | 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_B2I1 | Abcam HeLa TACC2 KO | Cancer cell line | Female |
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): B-cell chronic lymphocytic leukemia, opiate dependence