HAUS8
gene geneOn this page
Also known as MGC20533NY-SAR-48
Summary
HAUS8 (HAUS augmin like complex subunit 8, HGNC:30532) is a protein-coding gene on chromosome 19p13.11, encoding HAUS augmin-like complex subunit 8 (Q9BT25). 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: 79.7% of cell lines).
HAUS8 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 93323 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 87 total
- Cancer dependency (DepMap): dependent in 79.7% of screened cell lines
- MANE Select transcript:
NM_033417
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30532 |
| Approved symbol | HAUS8 |
| Name | HAUS augmin like complex subunit 8 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC20533, NY-SAR-48 |
| Ensembl gene | ENSG00000131351 |
| Ensembl biotype | protein_coding |
| OMIM | 613434 |
| Entrez | 93323 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000253669, ENST00000448593, ENST00000593360, ENST00000595958, ENST00000597479, ENST00000597917, ENST00000598517, ENST00000601564, ENST00000936148, ENST00000936149
RefSeq mRNA: 2 — MANE Select: NM_033417
NM_001011699, NM_033417
CCDS: CCDS32948, CCDS46009
Canonical transcript exons
ENST00000253669 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000899834 | 17073274 | 17073335 |
| ENSE00001333001 | 17075394 | 17075452 |
| ENSE00003204461 | 17049729 | 17050176 |
| ENSE00003493580 | 17059557 | 17059651 |
| ENSE00003495265 | 17052825 | 17052966 |
| ENSE00003511247 | 17058811 | 17058876 |
| ENSE00003593841 | 17069031 | 17069086 |
| ENSE00003600780 | 17062698 | 17062779 |
| ENSE00003647633 | 17059997 | 17060092 |
| ENSE00003687808 | 17055861 | 17056002 |
| ENSE00003687910 | 17058549 | 17058707 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 90.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.4235 / max 88.6392, expressed in 1284 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179833 | 3.3461 | 1274 |
| 179832 | 0.0774 | 39 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.81 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.87 | gold quality |
| granulocyte | CL:0000094 | 87.66 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.28 | gold quality |
| right testis | UBERON:0004534 | 83.64 | gold quality |
| left testis | UBERON:0004533 | 83.35 | gold quality |
| ventricular zone | UBERON:0003053 | 83.19 | gold quality |
| testis | UBERON:0000473 | 82.42 | gold quality |
| ganglionic eminence | UBERON:0004023 | 81.85 | gold quality |
| spleen | UBERON:0002106 | 80.42 | gold quality |
| secondary oocyte | CL:0000655 | 80.02 | gold quality |
| lymph node | UBERON:0000029 | 79.80 | gold quality |
| vermiform appendix | UBERON:0001154 | 79.67 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 79.47 | gold quality |
| leukocyte | CL:0000738 | 78.98 | gold quality |
| transverse colon | UBERON:0001157 | 78.88 | gold quality |
| right lobe of liver | UBERON:0001114 | 78.73 | gold quality |
| monocyte | CL:0000576 | 78.53 | gold quality |
| bone marrow cell | CL:0002092 | 78.10 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 77.95 | gold quality |
| apex of heart | UBERON:0002098 | 77.85 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.55 | gold quality |
| left adrenal gland | UBERON:0001234 | 77.07 | gold quality |
| popliteal artery | UBERON:0002250 | 76.88 | gold quality |
| tibial artery | UBERON:0007610 | 76.88 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 76.85 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 76.85 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 76.85 | gold quality |
| right adrenal gland | UBERON:0001233 | 76.64 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 76.63 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.04 |
| E-MTAB-4850 | no | 167.27 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting HAUS8, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| 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-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| 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-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-299-5P | 98.56 | 71.14 | 1140 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 79.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- Hice1 is a novel microtubule-associated protein important for maintaining spindle integrity and chromosomal stability, in part by virtue of its ability to bind, bundle, and stabilize microtubules. (PMID:18362163)
- Results suggest that Hec1, through cooperation with Hice1, contributes to centrosome-directed microtubule growth to facilitate establishing a proper mitotic spindle. (PMID:19776357)
- Aurora-A modulates the microtubule binding activity of Hice1 in a spatiotemporal manner for proper bipolar spindle assembly. (PMID:21705324)
- Hice1 and hDgt6 are core components of distinct augmin sub-complexes. (PMID:25173975)
- these results demonstrated that HAUS8 may function as a positive regulator of RLRVISA dependent antiviral signaling by targeting the VISA complex, providing a novel regulatory mechanism of antiviral responses (PMID:29916539)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | haus8 | ENSDARG00000109646 |
| mus_musculus | Haus8 | ENSMUSG00000035439 |
| rattus_norvegicus | Haus8 | ENSRNOG00000052038 |
Protein
Protein identifiers
HAUS augmin-like complex subunit 8 — Q9BT25 (reviewed: Q9BT25)
Alternative names: HEC1/NDC80-interacting centrosome-associated protein 1, Sarcoma antigen NY-SAR-48
All UniProt accessions (3): Q9BT25, M0R1H1, M0R3B3
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. Associates with microtubules. The interaction with microtubules is strong during mitosis, while it is weak or absent during interphase. It is unclear whether this interaction is direct or indirect. Interacts with EML3 (phosphorylated at ‘Thr-881’) and TUBG1.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle. Spindle pole.
Similarity. Belongs to the HAUS8 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BT25-1 | 1 | yes |
| Q9BT25-2 | 2 | |
| Q9BT25-3 | 3 |
RefSeq proteins (2): NP_001011699, NP_219485* (*=MANE)
Domains & families (InterPro)
UniProt features (20 total): sequence conflict 7, region of interest 3, splice variant 2, compositionally biased region 2, modified residue 2, initiator methionine 1, chain 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7SQK | ELECTRON MICROSCOPY | 8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BT25-F1 | 69.89 | 0.37 |
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): 2, 105
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: 204 (showing top):
GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, FISCHER_DREAM_TARGETS, GOBP_SPINDLE_ASSEMBLY, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION, GOBP_MICROTUBULE_POLYMERIZATION, GOCC_SPINDLE
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 (2): microtubule binding (GO:0008017), protein binding (GO:0005515)
GO Cellular Component (10): spindle pole (GO:0000922), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), nuclear microtubule (GO:0005880), HAUS complex (GO:0070652), mitotic spindle microtubule (GO:1990498), 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 | 3 |
| 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 |
| tubulin binding | 1 |
| binding | 1 |
| spindle | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| nucleus | 1 |
| microtubule | 1 |
| microtubule associated complex | 1 |
| spindle microtubule | 1 |
| mitotic spindle | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
930 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAUS8 | HAUS6 | Q7Z4H7 | 977 |
| HAUS8 | HAUS3 | Q68CZ6 | 824 |
| HAUS8 | HAUS1 | Q96CS2 | 781 |
| HAUS8 | NDC80 | O14777 | 770 |
| HAUS8 | HAUS7 | Q99871 | 758 |
| HAUS8 | TUBG1 | P23258 | 754 |
| HAUS8 | HAUS5 | O94927 | 743 |
| HAUS8 | HAUS4 | Q9H6D7 | 703 |
| HAUS8 | NUMA1 | Q14980 | 703 |
| HAUS8 | HAUS2 | Q9NVX0 | 678 |
| HAUS8 | NEDD1 | Q8NHV4 | 669 |
| HAUS8 | GPR137C | Q8N3F9 | 522 |
| HAUS8 | ULK4 | Q96C45 | 517 |
| HAUS8 | FBXO47 | Q5MNV8 | 456 |
| HAUS8 | SYCE2 | Q6PIF2 | 453 |
IntAct
200 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP97 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.950 |
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| CEP290 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.890 |
| HAUS2 | HAUS6 | psi-mi:“MI:0915”(physical association) | 0.880 |
| HAUS6 | HAUS8 | psi-mi:“MI:0915”(physical association) | 0.850 |
| HAUS6 | HAUS8 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| HAUS8 | HAUS6 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| HAUS1 | HAUS6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| HAUS1 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HAUS1 | HAUS5 | psi-mi:“MI:0914”(association) | 0.780 |
| HAUS2 | HAUS5 | psi-mi:“MI:0914”(association) | 0.730 |
| HAUS6 | HAUS5 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CEP170 | KIF2A | psi-mi:“MI:2364”(proximity) | 0.650 |
| HAUS4 | HAUS5 | psi-mi:“MI:0914”(association) | 0.640 |
| Haus4 | HAUS5 | psi-mi:“MI:0914”(association) | 0.560 |
BioGRID (175): HAUS8 (Affinity Capture-MS), HAUS8 (Affinity Capture-MS), HAUS8 (Affinity Capture-MS), HAUS8 (Affinity Capture-MS), HAUS8 (Two-hybrid), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS), HAUS8 (Proximity Label-MS)
ESM2 similar proteins: A0A059XKS9, A0A125YS36, A0A125YYR0, A0A7J6K144, A0A7J6K7I9, A0A7J6K7Y0, A4HK17, A4I7K1, B5APK2, B9Q0C2, E9PSU6, F2YGR7, F4IVL6, F6N7K6, O04064, O48767, P0CH66, P23915, P24686, Q2PAY2, Q2PAY3, Q384Y0, Q387Y5, Q388F1, Q40504, Q40505, Q4CTY5, Q4D7L5, Q4DHA1, Q4Q5P8, Q57XK8, Q57XV5, Q580X6, Q5R4R7, Q6B9Y8, Q6GV23, Q75CM4, Q80TL4, Q84VW5, Q8L5Y5
Diamond homologs: Q0IHJ3, Q99L00, Q9BT25, Q5BK57
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HAUS8 | “form complex” | “HAUS complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 165 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 |
|---|---|---|---|
| Anchoring of the basal body to the plasma membrane | 27 | 29.1× | 2e-30 |
| Loss of Nlp from mitotic centrosomes | 19 | 28.7× | 4e-21 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 19 | 28.7× | 4e-21 |
| AURKA Activation by TPX2 | 19 | 27.6× | 8e-21 |
| Recruitment of mitotic centrosome proteins and complexes | 20 | 25.9× | 4e-21 |
| Regulation of PLK1 Activity at G2/M Transition | 19 | 23.0× | 2e-19 |
| Recruitment of NuMA to mitotic centrosomes | 20 | 22.2× | 5e-20 |
| Centrosome maturation | 6 | 14.5× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 9 | 45.5× | 1e-10 |
| centrosome cycle | 10 | 23.2× | 3e-09 |
| spindle assembly | 7 | 21.4× | 4e-06 |
| non-motile cilium assembly | 10 | 20.0× | 1e-08 |
| motile cilium assembly | 5 | 20.0× | 4e-04 |
| cilium assembly | 18 | 9.1× | 3e-10 |
| intracellular protein localization | 10 | 7.2× | 1e-04 |
| cell division | 18 | 5.7× | 4e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2007 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:17052820:GGTAC:G | donor_loss | 1.0000 |
| 19:17052823:ACCTT:A | donor_loss | 1.0000 |
| 19:17052836:AAGGT:A | donor_gain | 1.0000 |
| 19:17052858:T:TA | donor_gain | 1.0000 |
| 19:17052964:CGT:C | acceptor_gain | 1.0000 |
| 19:17055859:ACCT:A | donor_loss | 1.0000 |
| 19:17055860:C:CT | donor_loss | 1.0000 |
| 19:17055915:G:A | donor_gain | 1.0000 |
| 19:17055999:CGAT:C | acceptor_gain | 1.0000 |
| 19:17056000:GAT:G | acceptor_gain | 1.0000 |
| 19:17056002:TCT:T | acceptor_loss | 1.0000 |
| 19:17056003:C:CC | acceptor_gain | 1.0000 |
| 19:17056003:C:T | acceptor_loss | 1.0000 |
| 19:17058540:A:AC | donor_gain | 1.0000 |
| 19:17058541:C:CC | donor_gain | 1.0000 |
| 19:17058541:CAA:C | donor_gain | 1.0000 |
| 19:17058581:T:TA | donor_gain | 1.0000 |
| 19:17058878:T:C | acceptor_gain | 1.0000 |
| 19:17059652:C:CC | acceptor_gain | 1.0000 |
| 19:17073269:CTTA:C | donor_loss | 1.0000 |
| 19:17073270:TTAC:T | donor_loss | 1.0000 |
| 19:17073271:TA:T | donor_loss | 1.0000 |
| 19:17073332:CTTC:C | acceptor_gain | 1.0000 |
| 19:17073333:TTC:T | acceptor_gain | 1.0000 |
| 19:17073334:TC:T | acceptor_gain | 1.0000 |
| 19:17073334:TCC:T | acceptor_loss | 1.0000 |
| 19:17073335:CC:C | acceptor_gain | 1.0000 |
| 19:17073336:C:CC | acceptor_gain | 1.0000 |
| 19:17073336:C:G | acceptor_loss | 1.0000 |
| 19:17073337:T:A | acceptor_loss | 1.0000 |
AlphaMissense
2661 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:17069063:A:C | Y39D | 0.985 |
| 19:17069063:A:G | Y39H | 0.983 |
| 19:17055933:C:G | A239P | 0.982 |
| 19:17058674:C:G | A174P | 0.982 |
| 19:17055908:A:G | L247P | 0.979 |
| 19:17055929:A:G | L240P | 0.978 |
| 19:17058846:A:G | S151P | 0.978 |
| 19:17069062:T:G | Y39S | 0.977 |
| 19:17050130:C:G | A326P | 0.976 |
| 19:17050153:A:G | L318P | 0.976 |
| 19:17058830:A:G | L156P | 0.976 |
| 19:17052831:A:G | L308P | 0.975 |
| 19:17055938:G:T | A237D | 0.974 |
| 19:17055951:A:C | Y233D | 0.973 |
| 19:17050127:C:G | A327P | 0.972 |
| 19:17055939:C:G | A237P | 0.972 |
| 19:17058836:A:G | L154P | 0.972 |
| 19:17060057:A:G | S89P | 0.972 |
| 19:17058821:A:G | L159P | 0.971 |
| 19:17069059:A:G | L40P | 0.967 |
| 19:17069063:A:T | Y39N | 0.967 |
| 19:17069062:T:C | Y39C | 0.966 |
| 19:17050137:G:C | S323R | 0.965 |
| 19:17050137:G:T | S323R | 0.965 |
| 19:17050139:T:G | S323R | 0.965 |
| 19:17055926:T:A | D241V | 0.964 |
| 19:17058824:A:G | L158P | 0.963 |
| 19:17060002:A:T | I107N | 0.963 |
| 19:17060053:G:T | T90K | 0.962 |
| 19:17069066:G:C | R38G | 0.962 |
dbSNP variants (sampled 300 via entrez): RS1000007759 (19:17069713 C>T), RS1000015982 (19:17070362 C>T), RS1000077348 (19:17073265 A>G), RS1000233578 (19:17061991 A>G), RS1000244382 (19:17067577 G>C), RS1000406227 (19:17077513 C>T), RS1000579932 (19:17066270 A>T), RS1000747911 (19:17076325 G>A), RS1000804311 (19:17051444 G>A,C,T), RS1000835335 (19:17051784 T>C), RS1000970963 (19:17071183 T>G), RS1000996019 (19:17057365 T>A), RS1001059744 (19:17050963 G>A), RS1001117057 (19:17062659 C>A,T), RS1001144794 (19:17062879 T>C)
Disease associations
OMIM: gene MIM:613434 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003814_3 | Selective IgA deficiency | 2.000000e-07 |
| GCST004863_38 | Mosquito bite size | 5.000000e-06 |
| GCST90002391_108 | Mean corpuscular hemoglobin concentration | 8.000000e-09 |
| GCST90020025_1420 | Waist-to-hip ratio adjusted for BMI | 4.000000e-10 |
| GCST90020027_132 | Waist-hip index | 4.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
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 |
|---|---|---|
| bisphenol A | affects expression, increases abundance, decreases expression, affects cotreatment | 2 |
| Resveratrol | increases expression, affects cotreatment | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| ginger extract | affects expression, increases abundance, affects cotreatment | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Mustard Gas | decreases expression | 1 |
| Oils, Volatile | affects cotreatment, affects expression, increases abundance | 1 |
| Oxygen | decreases 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): selective IgA deficiency disease