HAUS2
gene geneOn this page
Also known as FLJ10460HsT17025
Summary
HAUS2 (HAUS augmin like complex subunit 2, HGNC:25530) is a protein-coding gene on chromosome 15q15.2, encoding HAUS augmin-like complex subunit 2 (Q9NVX0). Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. It is a selective cancer dependency (DepMap: 26.3% of cell lines).
The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation.
Source: NCBI Gene 55142 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 45 total
- Cancer dependency (DepMap): dependent in 26.3% of screened cell lines
- MANE Select transcript:
NM_018097
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25530 |
| Approved symbol | HAUS2 |
| Name | HAUS augmin like complex subunit 2 |
| Location | 15q15.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10460, HsT17025 |
| Ensembl gene | ENSG00000137814 |
| Ensembl biotype | protein_coding |
| OMIM | 613429 |
| Entrez | 55142 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 10 protein_coding, 5 nonsense_mediated_decay
ENST00000260372, ENST00000391623, ENST00000562398, ENST00000563479, ENST00000564279, ENST00000567640, ENST00000568846, ENST00000568876, ENST00000570178, ENST00000607467, ENST00000935098, ENST00000935099, ENST00000935100, ENST00000935101, ENST00000970518
RefSeq mRNA: 6 — MANE Select: NM_018097
NM_001130447, NM_001323629, NM_001323630, NM_001323631, NM_001323632, NM_018097
CCDS: CCDS10090, CCDS45247, CCDS81867
Canonical transcript exons
ENST00000260372 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000884150 | 42558198 | 42558290 |
| ENSE00001924665 | 42566607 | 42569994 |
| ENSE00002616258 | 42548838 | 42548965 |
| ENSE00003545064 | 42561270 | 42561402 |
| ENSE00003620542 | 42563749 | 42563857 |
| ENSE00003697532 | 42559339 | 42559408 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 99.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7711 / max 379.9191, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146276 | 25.0331 | 1816 |
| 146275 | 0.8936 | 586 |
| 146274 | 0.8444 | 223 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal medulla | UBERON:0000362 | 99.74 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.67 | gold quality |
| pylorus | UBERON:0001166 | 99.61 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.61 | gold quality |
| nipple | UBERON:0002030 | 99.60 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.58 | gold quality |
| sperm | CL:0000019 | 99.54 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.54 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.53 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 99.52 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.52 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.48 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.46 | silver quality |
| pericardium | UBERON:0002407 | 99.45 | gold quality |
| buccal mucosa cell | CL:0002336 | 99.43 | gold quality |
| endothelial cell | CL:0000115 | 99.37 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.37 | silver quality |
| male germ cell | CL:0000015 | 99.34 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.34 | gold quality |
| periodontal ligament | UBERON:0008266 | 99.33 | silver quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.29 | gold quality |
| saphenous vein | UBERON:0007318 | 99.23 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.22 | gold quality |
| urethra | UBERON:0000057 | 99.18 | gold quality |
| pons | UBERON:0000988 | 99.17 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 99.14 | gold quality |
| blood vessel layer | UBERON:0004797 | 99.00 | gold quality |
| penis | UBERON:0000989 | 98.99 | gold quality |
| body of tongue | UBERON:0011876 | 98.97 | gold quality |
| synovial joint | UBERON:0002217 | 98.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
105 targeting HAUS2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 26.3% of screened cell lines.
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | haus2 | ENSDARG00000036781 |
| mus_musculus | Haus2 | ENSMUSG00000027285 |
| rattus_norvegicus | Haus2 | ENSRNOG00000048933 |
| rattus_norvegicus | ENSRNOG00000076589 |
Protein
Protein identifiers
HAUS augmin-like complex subunit 2 — Q9NVX0 (reviewed: Q9NVX0)
Alternative names: Centrosomal protein of 27 kDa
All UniProt accessions (8): Q9NVX0, H3BP16, H3BP24, H3BQU2, H3BR32, H3BTG9, J3QT48, U3KQI5
UniProt curated annotations — full annotation on UniProt →
Function. Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.
Subunit / interactions. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Interacts with EML3 (phosphorylated at ‘Thr-881’).
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle.
Similarity. Belongs to the HAUS2 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVX0-1 | 1 | yes |
| Q9NVX0-2 | 2 | |
| Q9NVX0-3 | 3 |
RefSeq proteins (6): NP_001123919, NP_001310558, NP_001310559, NP_001310560, NP_001310561, NP_060567* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026242 | HAUS2_metazoa | Family |
| IPR028346 | HAUS2 | Family |
Pfam: PF15003
UniProt features (5 total): splice variant 2, chain 1, coiled-coil region 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7SQK | ELECTRON MICROSCOPY | 8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVX0-F1 | 80.95 | 0.44 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-8854518 | AURKA Activation by TPX2 |
MSigDB gene sets: 182 (showing top):
GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, WEI_MYCN_TARGETS_WITH_E_BOX, CADWELL_ATG16L1_TARGETS_DN, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, GOCC_CENTROSOME, TCF11_01, COATES_MACROPHAGE_M1_VS_M2_UP, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY
GO Biological Process (6): microtubule nucleation (GO:0007020), centrosome cycle (GO:0007098), regulation of microtubule nucleation (GO:0010968), spindle assembly (GO:0051225), cell division (GO:0051301), microtubule organizing center organization (GO:0031023)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): centrosome (GO:0005813), cytosol (GO:0005829), HAUS complex (GO:0070652), mitotic spindle microtubule (GO:1990498), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856), microtubule (GO:0005874), spindle microtubule (GO:0005876)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 2 |
| Centrosome maturation | 2 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 1 |
| Mitotic Prometaphase | 1 |
| Assembly of the 9+0 primary cilium | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule cytoskeleton organization | 2 |
| cellular anatomical structure | 2 |
| microtubule cytoskeleton | 2 |
| intracellular membraneless organelle | 2 |
| microtubule polymerization | 1 |
| cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| microtubule nucleation | 1 |
| regulation of microtubule polymerization | 1 |
| spindle organization | 1 |
| chromosome segregation | 1 |
| membraneless organelle assembly | 1 |
| cellular process | 1 |
| microtubule-based process | 1 |
| cellular component organization | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| microtubule associated complex | 1 |
| spindle microtubule | 1 |
| mitotic spindle | 1 |
| intracellular anatomical structure | 1 |
| polymeric cytoskeletal fiber | 1 |
| spindle | 1 |
| microtubule | 1 |
Protein interactions and networks
STRING
902 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAUS2 | HAUS6 | Q7Z4H7 | 877 |
| HAUS2 | HAUS7 | Q99871 | 848 |
| HAUS2 | HAUS1 | Q96CS2 | 793 |
| HAUS2 | HAUS4 | Q9H6D7 | 689 |
| HAUS2 | HAUS5 | O94927 | 685 |
| HAUS2 | HAUS3 | Q68CZ6 | 682 |
| HAUS2 | HAUS8 | Q9BT25 | 678 |
| HAUS2 | NUMA1 | Q14980 | 670 |
| HAUS2 | TUBG1 | P23258 | 649 |
| HAUS2 | CEP290 | O15078 | 646 |
| HAUS2 | PCNT | O95613 | 492 |
| HAUS2 | UBE2V2 | Q15819 | 472 |
| HAUS2 | D6RC18 | D6RC18 | 431 |
| HAUS2 | MRPS14 | O60783 | 408 |
| HAUS2 | ISY1 | Q9ULR0 | 398 |
IntAct
64 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| HAUS6 | HAUS2 | psi-mi:“MI:0915”(physical association) | 0.880 |
| HAUS2 | HAUS6 | psi-mi:“MI:0915”(physical association) | 0.880 |
| HAUS1 | HAUS6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| HAUS1 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HAUS2 | HAUS5 | psi-mi:“MI:0914”(association) | 0.730 |
| HAUS6 | HAUS5 | psi-mi:“MI:0914”(association) | 0.710 |
| HAUS4 | HAUS5 | psi-mi:“MI:0914”(association) | 0.640 |
| ARFIP1 | ARL1 | psi-mi:“MI:0914”(association) | 0.640 |
| Haus4 | HAUS5 | psi-mi:“MI:0914”(association) | 0.560 |
| XRCC4 | HAUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Haus4 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMC1A | PDS5B | psi-mi:“MI:0914”(association) | 0.530 |
| SYCE3 | RER1 | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| Haus6 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Haus1 | GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAPK6 | HAUS2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Haus1 | LTF | psi-mi:“MI:0914”(association) | 0.350 |
| HAUS2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| HTT | psi-mi:“MI:0914”(association) | 0.350 | |
| HAUS7 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| SYCE3 | TRIM24 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (174): HAUS2 (Affinity Capture-RNA), HAUS2 (Affinity Capture-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS), HAUS2 (Proximity Label-MS)
ESM2 similar proteins: A0A1B0GTZ2, A3RM20, A4UHQ4, A6H7E2, A6NGH7, A9JSR5, B0BK70, O55527, O74982, P04861, P04862, P06747, P0C137, P0C139, P0C142, P14253, P14254, P33493, P35940, P40167, P69479, P69480, P69738, Q0GBX8, Q13352, Q14BK3, Q2T9U9, Q2YDE5, Q32L17, Q3UYG1, Q4KLZ4, Q4VKV6, Q5I0J4, Q5RE16, Q66HB6, Q6AXY9, Q810N5, Q8IR45, Q8IYM0, Q8NCU1
Diamond homologs: Q5RE16, Q9CQS9, Q9NVX0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HAUS2 | “form complex” | “HAUS complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 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 |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 10 | 38.7× | 4e-12 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 10 | 38.7× | 4e-12 |
| AURKA Activation by TPX2 | 10 | 37.1× | 5e-12 |
| Recruitment of mitotic centrosome proteins and complexes | 10 | 33.2× | 1e-11 |
| Anchoring of the basal body to the plasma membrane | 12 | 33.1× | 2e-13 |
| Regulation of PLK1 Activity at G2/M Transition | 10 | 30.9× | 2e-11 |
| Recruitment of NuMA to mitotic centrosomes | 10 | 28.4× | 4e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centrosome cycle | 7 | 41.4× | 5e-08 |
| spindle assembly | 5 | 38.9× | 1e-05 |
| cilium assembly | 8 | 10.3× | 7e-05 |
| cell division | 11 | 8.9× | 4e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
555 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:42548962:TCAGG:T | donor_loss | 1.0000 |
| 15:42548967:T:G | donor_loss | 1.0000 |
| 15:42561267:T:G | acceptor_gain | 1.0000 |
| 15:42561268:A:AG | acceptor_gain | 1.0000 |
| 15:42561269:G:GA | acceptor_gain | 1.0000 |
| 15:42561371:G:GT | donor_gain | 1.0000 |
| 15:42561372:A:T | donor_gain | 1.0000 |
| 15:42563743:TTTCA:T | acceptor_loss | 1.0000 |
| 15:42563744:TTCA:T | acceptor_loss | 1.0000 |
| 15:42563745:TCA:T | acceptor_loss | 1.0000 |
| 15:42563746:CAGAT:C | acceptor_loss | 1.0000 |
| 15:42563747:A:AC | acceptor_loss | 1.0000 |
| 15:42563747:A:AG | acceptor_gain | 1.0000 |
| 15:42563748:G:GA | acceptor_gain | 1.0000 |
| 15:42563748:GA:G | acceptor_gain | 1.0000 |
| 15:42563748:GAT:G | acceptor_gain | 1.0000 |
| 15:42563748:GATA:G | acceptor_gain | 1.0000 |
| 15:42563748:GATAT:G | acceptor_gain | 1.0000 |
| 15:42563853:AAATG:A | donor_gain | 1.0000 |
| 15:42563854:AATG:A | donor_gain | 1.0000 |
| 15:42563855:ATG:A | donor_gain | 1.0000 |
| 15:42563856:TG:T | donor_gain | 1.0000 |
| 15:42563856:TGG:T | donor_loss | 1.0000 |
| 15:42563857:GG:G | donor_gain | 1.0000 |
| 15:42563858:G:C | donor_loss | 1.0000 |
| 15:42563858:G:GG | donor_gain | 1.0000 |
| 15:42563859:T:A | donor_loss | 1.0000 |
| 15:42566596:A:AG | acceptor_gain | 1.0000 |
| 15:42566596:AAAT:A | acceptor_gain | 1.0000 |
| 15:42566597:A:G | acceptor_gain | 1.0000 |
AlphaMissense
1564 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:42561321:T:C | L103P | 0.941 |
| 15:42561351:T:C | L113P | 0.925 |
| 15:42563783:T:C | F142L | 0.924 |
| 15:42563785:C:A | F142L | 0.924 |
| 15:42563785:C:G | F142L | 0.924 |
| 15:42559346:T:C | L65P | 0.923 |
| 15:42561309:T:C | L99S | 0.914 |
| 15:42558276:G:C | A58P | 0.911 |
| 15:42561339:T:C | L109P | 0.911 |
| 15:42559361:T:C | L70P | 0.907 |
| 15:42559358:T:C | L69P | 0.906 |
| 15:42561288:T:C | L92P | 0.899 |
| 15:42566656:T:C | L183P | 0.895 |
| 15:42566676:T:A | W190R | 0.889 |
| 15:42566676:T:C | W190R | 0.889 |
| 15:42563808:T:C | L150P | 0.875 |
| 15:42559381:G:C | A77P | 0.869 |
| 15:42559367:T:C | L72P | 0.865 |
| 15:42566658:G:C | A184P | 0.860 |
| 15:42563775:C:A | A139D | 0.853 |
| 15:42566678:G:C | W190C | 0.853 |
| 15:42566678:G:T | W190C | 0.853 |
| 15:42561314:G:C | A101P | 0.844 |
| 15:42563774:G:C | A139P | 0.835 |
| 15:42566680:G:C | R191P | 0.833 |
| 15:42561378:T:C | L122S | 0.832 |
| 15:42561351:T:A | L113Q | 0.818 |
| 15:42561318:T:A | V102E | 0.816 |
| 15:42558234:T:C | F44L | 0.813 |
| 15:42558236:T:A | F44L | 0.813 |
dbSNP variants (sampled 300 via entrez): RS1000033769 (15:42547765 A>C), RS1000085531 (15:42548182 CTTG>C), RS1000389007 (15:42554227 C>T), RS1000690049 (15:42565399 G>T), RS1000781138 (15:42563947 C>G,T), RS1000895691 (15:42564157 C>T), RS1001126324 (15:42557616 T>G), RS1001341324 (15:42558501 G>A), RS1001412235 (15:42557477 T>A,G), RS1001569294 (15:42565158 A>G), RS1001811949 (15:42546847 A>C,G), RS1001910669 (15:42553480 T>C), RS1001999922 (15:42552258 A>C,T), RS1002033646 (15:42547322 C>T), RS1002413514 (15:42564571 A>G)
Disease associations
OMIM: gene MIM:613429 | 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 |
|---|---|---|
| GCST002726_31 | Glucose homeostasis traits | 6.000000e-06 |
| GCST008103_17 | Bipolar disorder | 9.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004471 | insulin sensitivity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | affects cotreatment, decreases expression, increases expression | 2 |
| Hydrogen Peroxide | affects expression | 2 |
| afuresertib | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| glycidyl methacrylate | increases expression | 1 |
| lead acetate | affects cotreatment, increases expression | 1 |
| zinc protoporphyrin | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | decreases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | affects cotreatment, decreases 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 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Air Pollutants | increases abundance, affects cotreatment, decreases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Formaldehyde | increases expression | 1 |
| Lead | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | increases abundance, affects cotreatment, decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression, increases 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.