HAUS5
gene geneOn this page
Also known as dgt5
Summary
HAUS5 (HAUS augmin like complex subunit 5, HGNC:29130) is a protein-coding gene on chromosome 19q13.12, encoding HAUS augmin-like complex subunit 5 (O94927). Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. It is a common-essential gene (DepMap: required in 99.2% of cancer cell lines).
HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb ‘augmentare,’ meaning ’to increase.’ The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).
Source: NCBI Gene 23354 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 155 total
- Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_015302
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29130 |
| Approved symbol | HAUS5 |
| Name | HAUS augmin like complex subunit 5 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dgt5 |
| Ensembl gene | ENSG00000249115 |
| Ensembl biotype | protein_coding |
| OMIM | 613432 |
| Entrez | 23354 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay
ENST00000203166, ENST00000424522, ENST00000428854, ENST00000430749, ENST00000585968, ENST00000587439, ENST00000588570, ENST00000590994, ENST00000592291, ENST00000881486, ENST00000881487, ENST00000881488, ENST00000931152, ENST00000955865, ENST00000955866, ENST00000955867
RefSeq mRNA: 1 — MANE Select: NM_015302
NM_015302
CCDS: CCDS42550
Canonical transcript exons
ENST00000203166 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002956714 | 35612735 | 35612892 |
| ENSE00003480323 | 35615042 | 35615147 |
| ENSE00003513911 | 35622876 | 35625355 |
| ENSE00003514706 | 35620012 | 35620123 |
| ENSE00003529623 | 35617855 | 35617912 |
| ENSE00003555583 | 35618402 | 35618465 |
| ENSE00003560638 | 35617124 | 35617193 |
| ENSE00003561618 | 35615227 | 35615386 |
| ENSE00003565106 | 35618071 | 35618195 |
| ENSE00003578528 | 35618887 | 35619049 |
| ENSE00003605202 | 35617287 | 35617369 |
| ENSE00003616822 | 35619613 | 35619758 |
| ENSE00003638121 | 35618569 | 35618699 |
| ENSE00003645461 | 35622601 | 35622733 |
| ENSE00003658297 | 35620195 | 35620327 |
| ENSE00003663448 | 35614035 | 35614059 |
| ENSE00003663527 | 35619424 | 35619504 |
| ENSE00003697581 | 35613868 | 35613900 |
| ENSE00003699674 | 35613730 | 35613792 |
Expression profiles
Bgee: expression breadth ubiquitous, 271 present calls, max score 94.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0427 / max 274.0797, expressed in 1680 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175354 | 10.0427 | 1680 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 94.32 | gold quality |
| olfactory bulb | UBERON:0002264 | 90.69 | gold quality |
| secondary oocyte | CL:0000655 | 90.07 | gold quality |
| vena cava | UBERON:0004087 | 89.60 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 87.82 | silver quality |
| left ovary | UBERON:0002119 | 87.20 | gold quality |
| right testis | UBERON:0004534 | 87.19 | gold quality |
| right ovary | UBERON:0002118 | 86.70 | gold quality |
| left testis | UBERON:0004533 | 86.54 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.49 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 86.46 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.23 | gold quality |
| oocyte | CL:0000023 | 86.06 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.03 | gold quality |
| ventricular zone | UBERON:0003053 | 85.72 | gold quality |
| inferior olivary complex | UBERON:0002127 | 85.52 | gold quality |
| ovary | UBERON:0000992 | 85.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.32 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.16 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.93 | gold quality |
| right uterine tube | UBERON:0001302 | 84.80 | gold quality |
| testis | UBERON:0000473 | 84.79 | gold quality |
| ileal mucosa | UBERON:0000331 | 84.78 | gold quality |
| body of uterus | UBERON:0009853 | 84.35 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 84.21 | silver quality |
| cerebellum | UBERON:0002037 | 84.02 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.90 | gold quality |
| sural nerve | UBERON:0015488 | 83.77 | gold quality |
| ectocervix | UBERON:0012249 | 83.57 | gold quality |
| tibialis anterior | UBERON:0001385 | 83.39 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.70 |
| E-GEOD-75367 | no | 74.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
96 targeting HAUS5, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| 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-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| 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 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Our results suggest that GSCs differentially rely on ZNF131-dependent expression of HAUS5 as well as the Augmin/HAUS complex activity to maintain the integrity of centrosome function and viability. (PMID:28596487)
- Comprehensive analysis of the correlation of the pan-cancer gene HAUS5 with prognosis and immune infiltration in liver cancer. (PMID:36765148)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Haus5 | ENSMUSG00000078762 |
| rattus_norvegicus | Haus5 | ENSRNOG00000024266 |
Protein
Protein identifiers
HAUS augmin-like complex subunit 5 — O94927 (reviewed: O94927)
All UniProt accessions (4): O94927, K7EQ61, U3KQG4, U3KQJ5
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 HAUS5 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O94927-1 | 1 | yes |
| O94927-2 | 2 |
RefSeq proteins (1): NP_056117* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026215 | HAUS5_metazoa | Family |
| IPR029131 | HAUS5 | Family |
Pfam: PF14817
UniProt features (12 total): coiled-coil region 3, sequence variant 2, modified residue 2, splice variant 2, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7SQK | ELECTRON MICROSCOPY | 8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94927-F1 | 77.18 | 0.16 |
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 (2): 1, 71
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: 184 (showing top):
MORF_RAGE, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, MORF_FLT1, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, MORF_FANCG, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP
GO Biological Process (4): centrosome cycle (GO:0007098), regulation of microtubule nucleation (GO:0010968), spindle assembly (GO:0051225), cell division (GO:0051301)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): 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)
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 |
|---|---|
| cellular anatomical structure | 2 |
| microtubule cytoskeleton | 2 |
| intracellular membraneless organelle | 2 |
| 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 |
| 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 |
Protein interactions and networks
STRING
904 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAUS5 | HAUS6 | Q7Z4H7 | 956 |
| HAUS5 | HAUS3 | Q68CZ6 | 854 |
| HAUS5 | HAUS7 | Q99871 | 771 |
| HAUS5 | HAUS8 | Q9BT25 | 743 |
| HAUS5 | NEDD1 | Q8NHV4 | 739 |
| HAUS5 | HAUS2 | Q9NVX0 | 685 |
| HAUS5 | NUMA1 | Q14980 | 680 |
| HAUS5 | TUBG1 | P23258 | 674 |
| HAUS5 | ZNF672 | Q499Z4 | 617 |
| HAUS5 | HAUS4 | Q9H6D7 | 606 |
| HAUS5 | HAUS1 | Q96CS2 | 518 |
| HAUS5 | ZBTB35 | P52739 | 504 |
| HAUS5 | CFAP263 | Q9H0I3 | 458 |
| HAUS5 | RAB4B | P22750 | 437 |
| HAUS5 | POC5 | Q8NA72 | 421 |
IntAct
163 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| SNX6 | SNX2 | psi-mi:“MI:0914”(association) | 0.800 |
| IFT70B | IFT56 | psi-mi:“MI:0914”(association) | 0.790 |
| HAUS1 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HAUS1 | HAUS5 | psi-mi:“MI:0914”(association) | 0.780 |
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| HAUS2 | HAUS5 | psi-mi:“MI:0914”(association) | 0.730 |
| HAUS6 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.710 |
| HAUS6 | HAUS5 | psi-mi:“MI:0914”(association) | 0.710 |
| LRIF1 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.680 |
| HAUS4 | HAUS5 | psi-mi:“MI:0914”(association) | 0.640 |
| Haus4 | HAUS5 | psi-mi:“MI:0914”(association) | 0.560 |
| Haus4 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HAUS3 | HAUS5 | psi-mi:“MI:0914”(association) | 0.530 |
| TIGD5 | P4HA2 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| PRKAG3 | PFDN6 | psi-mi:“MI:0914”(association) | 0.530 |
| SYCE3 | RER1 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| ILK | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| HSPA8 | ARHGEF10 | psi-mi:“MI:2364”(proximity) | 0.480 |
| CEP162 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.420 |
| GSK3B | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| Haus2 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Plk1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Haus6 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (204): HAUS5 (Affinity Capture-MS), HAUS5 (Affinity Capture-MS), HAUS5 (Affinity Capture-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS), HAUS5 (Proximity Label-MS)
ESM2 similar proteins: A1A5D9, A6NGB0, A9QT41, B8JK76, F6XLV1, O94927, P0C7N4, P58660, Q0KK56, Q0VG85, Q1RMI8, Q29RS0, Q2KJ21, Q2NL23, Q2TAC2, Q3LUD3, Q3V0F0, Q4QRL3, Q571B6, Q5D525, Q5ND29, Q5RD60, Q5XHZ2, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q86UK5, Q8BFT2, Q8BP01, Q8CB62, Q8CGU1, Q8CHW5, Q8CJ40, Q8HZ57, Q8HZ58, Q8HZ59, Q8HZ60, Q8K1G2, Q8K2I2
Diamond homologs: O94927, Q9D786
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HAUS5 | “form complex” | “HAUS complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 204 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 | 17 | 24.1× | 3e-17 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 17 | 24.1× | 3e-17 |
| AURKA Activation by TPX2 | 17 | 23.1× | 5e-17 |
| Recruitment of mitotic centrosome proteins and complexes | 17 | 20.6× | 3e-16 |
| Regulation of PLK1 Activity at G2/M Transition | 17 | 19.3× | 9e-16 |
| Anchoring of the basal body to the plasma membrane | 19 | 19.2× | 3e-17 |
| Recruitment of NuMA to mitotic centrosomes | 17 | 17.7× | 3e-15 |
| Cilium Assembly | 7 | 6.8× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spindle assembly | 9 | 23.2× | 4e-08 |
| centriole replication | 5 | 21.3× | 7e-04 |
| centrosome cycle | 10 | 19.6× | 3e-08 |
| cell division | 15 | 4.0× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
155 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 120 |
| Likely benign | 13 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2814 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:35613863:TGTAG:T | acceptor_loss | 1.0000 |
| 19:35613865:TAG:T | acceptor_loss | 1.0000 |
| 19:35615039:CAGGT:C | acceptor_loss | 1.0000 |
| 19:35615040:A:AG | acceptor_gain | 1.0000 |
| 19:35615041:G:GG | acceptor_gain | 1.0000 |
| 19:35615041:GGTCC:G | acceptor_gain | 1.0000 |
| 19:35615144:CAGGG:C | donor_loss | 1.0000 |
| 19:35615145:AGGGT:A | donor_loss | 1.0000 |
| 19:35615146:GG:G | donor_gain | 1.0000 |
| 19:35615147:G:GT | donor_gain | 1.0000 |
| 19:35615147:GGTGA:G | donor_loss | 1.0000 |
| 19:35615148:G:GG | donor_gain | 1.0000 |
| 19:35615148:GTG:G | donor_loss | 1.0000 |
| 19:35615149:T:A | donor_loss | 1.0000 |
| 19:35615224:C:G | acceptor_gain | 1.0000 |
| 19:35615225:A:AG | acceptor_gain | 1.0000 |
| 19:35615225:A:G | acceptor_loss | 1.0000 |
| 19:35615226:G:GA | acceptor_gain | 1.0000 |
| 19:35615226:GA:G | acceptor_gain | 1.0000 |
| 19:35615226:GAC:G | acceptor_gain | 1.0000 |
| 19:35615226:GACA:G | acceptor_gain | 1.0000 |
| 19:35615226:GACAC:G | acceptor_gain | 1.0000 |
| 19:35615376:G:GT | donor_gain | 1.0000 |
| 19:35615384:GAG:G | donor_gain | 1.0000 |
| 19:35615385:AGG:A | donor_loss | 1.0000 |
| 19:35615386:GGTG:G | donor_loss | 1.0000 |
| 19:35615387:GTG:G | donor_loss | 1.0000 |
| 19:35615399:G:T | donor_gain | 1.0000 |
| 19:35617286:GC:G | acceptor_gain | 1.0000 |
| 19:35617370:G:GG | donor_gain | 1.0000 |
AlphaMissense
4024 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:35617895:T:A | W227R | 0.981 |
| 19:35617895:T:C | W227R | 0.981 |
| 19:35613758:T:A | W43R | 0.954 |
| 19:35613758:T:C | W43R | 0.954 |
| 19:35622940:T:A | W617R | 0.947 |
| 19:35622940:T:C | W617R | 0.947 |
| 19:35612833:G:C | W13C | 0.943 |
| 19:35612833:G:T | W13C | 0.943 |
| 19:35619027:T:C | I386T | 0.942 |
| 19:35617323:T:C | F198L | 0.936 |
| 19:35617325:C:A | F198L | 0.936 |
| 19:35617325:C:G | F198L | 0.936 |
| 19:35613760:G:C | W43C | 0.934 |
| 19:35613760:G:T | W43C | 0.934 |
| 19:35622952:T:A | W621R | 0.931 |
| 19:35622952:T:C | W621R | 0.931 |
| 19:35617897:G:C | W227C | 0.930 |
| 19:35617897:G:T | W227C | 0.930 |
| 19:35622732:T:A | W595R | 0.929 |
| 19:35622732:T:C | W595R | 0.929 |
| 19:35622879:G:C | W596C | 0.915 |
| 19:35622879:G:T | W596C | 0.915 |
| 19:35622954:G:C | W621C | 0.915 |
| 19:35622954:G:T | W621C | 0.915 |
| 19:35619455:T:C | I404T | 0.908 |
| 19:35619477:G:C | K411N | 0.908 |
| 19:35619477:G:T | K411N | 0.908 |
| 19:35618575:T:A | W298R | 0.905 |
| 19:35618575:T:C | W298R | 0.905 |
| 19:35622942:G:C | W617C | 0.904 |
dbSNP variants (sampled 300 via entrez): RS1000060718 (19:35616478 C>T), RS1000080171 (19:35610820 C>G), RS1000195038 (19:35610954 G>A), RS1000822204 (19:35613065 G>C), RS1001376111 (19:35613459 C>A), RS1001410562 (19:35616056 C>A,T), RS1001824411 (19:35611920 C>G), RS1001846921 (19:35618261 G>A), RS1001996802 (19:35624109 T>G), RS1002049247 (19:35623840 G>A,T), RS1002300687 (19:35617946 C>T), RS1002369534 (19:35611761 A>T), RS1002900592 (19:35616667 G>A), RS1003057583 (19:35622528 T>C), RS1003622689 (19:35620024 G>A,T)
Disease associations
OMIM: gene MIM:613432 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases reaction, increases expression, affects expression, affects binding | 3 |
| bisphenol A | affects cotreatment, increases methylation, affects expression, increases abundance | 2 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| jinfukang | increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cisplatin | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Oils, Volatile | affects cotreatment, affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Acrylamide | 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.