HAUS4
gene geneOn this page
Also known as FLJ20424
Summary
HAUS4 (HAUS augmin like complex subunit 4, HGNC:20163) is a protein-coding gene on chromosome 14q11.2, encoding HAUS augmin-like complex subunit 4 (Q9H6D7). 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 98.6% of cancer cell lines).
This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1.
Source: NCBI Gene 54930 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 49 total
- Cancer dependency (DepMap): dependent in 98.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001166269
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20163 |
| Approved symbol | HAUS4 |
| Name | HAUS augmin like complex subunit 4 |
| Location | 14q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20424 |
| Ensembl gene | ENSG00000092036 |
| Ensembl biotype | protein_coding |
| OMIM | 613431 |
| Entrez | 54930 |
Gene structure
Transcript identifiers
Ensembl transcripts: 45 — 37 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000206474, ENST00000342454, ENST00000347758, ENST00000490506, ENST00000541587, ENST00000553420, ENST00000553794, ENST00000553859, ENST00000554063, ENST00000554349, ENST00000554373, ENST00000554406, ENST00000554446, ENST00000554516, ENST00000554651, ENST00000555040, ENST00000555367, ENST00000555986, ENST00000556421, ENST00000556915, ENST00000557591, ENST00000891766, ENST00000891767, ENST00000891768, ENST00000891769, ENST00000891770, ENST00000891771, ENST00000891772, ENST00000891773, ENST00000891774, ENST00000932954, ENST00000932955, ENST00000932956, ENST00000932957, ENST00000932958, ENST00000932959, ENST00000932960, ENST00000958328, ENST00000958329, ENST00000958330, ENST00000958331, ENST00000958332, ENST00000958333, ENST00000958334, ENST00000958335
RefSeq mRNA: 3 — MANE Select: NM_001166269
NM_001166269, NM_001166270, NM_017815
CCDS: CCDS53886, CCDS9580
Canonical transcript exons
ENST00000541587 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001922973 | 22946228 | 22946708 |
| ENSE00002204859 | 22956916 | 22957090 |
| ENSE00003466291 | 22947171 | 22947239 |
| ENSE00003510008 | 22952541 | 22952683 |
| ENSE00003512311 | 22947868 | 22948013 |
| ENSE00003568136 | 22952328 | 22952459 |
| ENSE00003586967 | 22951555 | 22951689 |
| ENSE00003591775 | 22955100 | 22955176 |
| ENSE00003785134 | 22950314 | 22950410 |
| ENSE00003790839 | 22947601 | 22947731 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 96.27.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.9554 / max 286.5213, expressed in 1815 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142270 | 13.5622 | 1790 |
| 142273 | 6.6238 | 1658 |
| 142271 | 2.6000 | 1324 |
| 142272 | 2.1694 | 1129 |
Top tissues by expression
142 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 96.27 | gold quality |
| left ovary | UBERON:0002119 | 95.46 | gold quality |
| ovary | UBERON:0000992 | 95.18 | gold quality |
| body of pancreas | UBERON:0001150 | 95.06 | gold quality |
| right ovary | UBERON:0002118 | 94.79 | gold quality |
| ventricular zone | UBERON:0003053 | 94.32 | gold quality |
| leukocyte | CL:0000738 | 94.03 | gold quality |
| monocyte | CL:0000576 | 94.02 | gold quality |
| spleen | UBERON:0002106 | 93.71 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.69 | gold quality |
| granulocyte | CL:0000094 | 93.64 | gold quality |
| lymph node | UBERON:0000029 | 93.60 | gold quality |
| endocervix | UBERON:0000458 | 93.49 | gold quality |
| zone of skin | UBERON:0000014 | 93.37 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.20 | gold quality |
| skin of leg | UBERON:0001511 | 93.18 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.15 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.14 | gold quality |
| body of uterus | UBERON:0009853 | 92.98 | gold quality |
| tibial nerve | UBERON:0001323 | 92.90 | gold quality |
| right lung | UBERON:0002167 | 92.90 | gold quality |
| vagina | UBERON:0000996 | 92.89 | gold quality |
| pancreas | UBERON:0001264 | 92.76 | gold quality |
| right uterine tube | UBERON:0001302 | 92.76 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.65 | gold quality |
| myometrium | UBERON:0001296 | 92.55 | gold quality |
| ectocervix | UBERON:0012249 | 92.53 | gold quality |
| uterine cervix | UBERON:0000002 | 92.45 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 92.45 | gold quality |
| transverse colon | UBERON:0001157 | 92.42 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.15 |
| E-MTAB-7303 | no | 288.96 |
| E-CURD-11 | no | 102.20 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting HAUS4, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-6780B-3P | 99.13 | 67.18 | 622 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-33B-3P | 97.92 | 67.39 | 529 |
| HSA-MIR-519E-3P | 97.92 | 68.25 | 508 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-6730-3P | 97.03 | 67.54 | 889 |
| HSA-MIR-31-3P | 95.17 | 69.82 | 575 |
| HSA-MIR-4301 | 95.00 | 65.22 | 554 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.6% of screened cell lines, common-essential.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | haus4 | ENSDARG00000016594 |
| mus_musculus | Haus4 | ENSMUSG00000022177 |
| rattus_norvegicus | Haus4 | ENSRNOG00000039284 |
Protein
Protein identifiers
HAUS augmin-like complex subunit 4 — Q9H6D7 (reviewed: Q9H6D7)
All UniProt accessions (8): Q9H6D7, G3V2I5, G3V4X7, G3V541, G3V5A5, G3V5Z2, H0YIZ6, H0YJ09
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 HAUS4 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6D7-1 | 1 | yes |
| Q9H6D7-2 | 2 | |
| Q9H6D7-3 | 3 | |
| Q9H6D7-4 | 4 |
RefSeq proteins (3): NP_001159741, NP_001159742, NP_060285 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026214 | HAUS4_met | Family |
| IPR029327 | HAUS4 | Family |
Pfam: PF14735
UniProt features (5 total): splice variant 3, chain 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-Q9H6D7-F1 | 82.17 | 0.37 |
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: 197 (showing top):
GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, AFP1_Q6, FISCHER_DREAM_TARGETS, GOBP_SPINDLE_ASSEMBLY
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 minus-end binding (GO:0051011), 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 |
| microtubule binding | 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
670 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAUS4 | HAUS6 | Q7Z4H7 | 902 |
| HAUS4 | HAUS3 | Q68CZ6 | 827 |
| HAUS4 | HAUS1 | Q96CS2 | 788 |
| HAUS4 | HAUS7 | Q99871 | 711 |
| HAUS4 | HAUS8 | Q9BT25 | 703 |
| HAUS4 | TUBG1 | P23258 | 694 |
| HAUS4 | NUMA1 | Q14980 | 693 |
| HAUS4 | HAUS2 | Q9NVX0 | 689 |
| HAUS4 | HAUS5 | O94927 | 606 |
| HAUS4 | C9orf40 | Q8IXQ3 | 506 |
| HAUS4 | TTC39C | Q8N584 | 502 |
| HAUS4 | GTF3C4 | Q9UKN8 | 464 |
| HAUS4 | LYSMD4 | Q5XG99 | 409 |
| HAUS4 | C14orf93 | Q9H972 | 402 |
| HAUS4 | CDCA4 | Q9BXL8 | 390 |
IntAct
106 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HAUS4 | HAUS1 | psi-mi:“MI:0407”(direct interaction) | 0.910 |
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| CEP290 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.890 |
| DMD | DTNB | psi-mi:“MI:0914”(association) | 0.890 |
| HAUS1 | HAUS6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| HAUS1 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| COPRS | PRMT5 | psi-mi:“MI:0914”(association) | 0.770 |
| TADA3 | TADA2A | psi-mi:“MI:0914”(association) | 0.740 |
| HAUS6 | HAUS5 | psi-mi:“MI:0914”(association) | 0.710 |
| HAUS6 | HAUS4 | psi-mi:“MI:0915”(physical association) | 0.710 |
| EFHC1 | BRAP | psi-mi:“MI:0914”(association) | 0.660 |
| HAUS4 | HAUS5 | psi-mi:“MI:0914”(association) | 0.640 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| PIK3R2 | IRS4 | psi-mi:“MI:0914”(association) | 0.640 |
| Haus4 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMAL2 | CLOCK | psi-mi:“MI:0914”(association) | 0.550 |
| HAUS3 | HAUS5 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF223 | CENPB | psi-mi:“MI:0914”(association) | 0.530 |
| DMD | UTRN | psi-mi:“MI:0914”(association) | 0.530 |
| COG3 | TBCC | psi-mi:“MI:0914”(association) | 0.530 |
| SYCE3 | RER1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (154): HAUS4 (Affinity Capture-RNA), HAUS4 (Affinity Capture-RNA), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), GGA3 (Co-fractionation), HAUS4 (Synthetic Growth Defect), HAUS4 (Proximity Label-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Proximity Label-MS), HAUS4 (Proximity Label-MS)
ESM2 similar proteins: A2AKG8, A5A777, A6H754, A7YDW0, A7YY97, A8DZJ1, B5X5N3, F6S215, O00443, O08576, O08662, O60268, P35608, P97357, Q15573, Q17QK1, Q2NL11, Q3B7U2, Q4V847, Q4V8Z3, Q561Q8, Q561X3, Q571H0, Q59EK9, Q5M8Y7, Q5R565, Q5RA87, Q5RAY1, Q5VW36, Q5WNI9, Q5XG48, Q5XIC3, Q61194, Q63603, Q6TNU3, Q751Y8, Q75QN2, Q7L3B6, Q80V86, Q80Y56
Diamond homologs: Q8BFT2, Q9H6D7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HAUS4 | “form complex” | “HAUS complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 134 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 | 28.4× | 2e-18 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 17 | 28.4× | 2e-18 |
| AURKA Activation by TPX2 | 17 | 27.2× | 3e-18 |
| Recruitment of mitotic centrosome proteins and complexes | 17 | 24.3× | 1e-17 |
| Regulation of PLK1 Activity at G2/M Transition | 17 | 22.7× | 4e-17 |
| Anchoring of the basal body to the plasma membrane | 19 | 22.6× | 2e-18 |
| Recruitment of NuMA to mitotic centrosomes | 18 | 22.1× | 9e-18 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cilium assembly | 5 | 31.9× | 7e-05 |
| centriole replication | 5 | 30.5× | 7e-05 |
| spindle assembly | 8 | 29.6× | 6e-08 |
| centrosome cycle | 10 | 28.1× | 7e-10 |
| non-motile cilium assembly | 6 | 14.5× | 3e-04 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 5 | 14.0× | 2e-03 |
| cilium assembly | 11 | 6.8× | 8e-05 |
| cell division | 15 | 5.8× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1514 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:22947166:CTCAC:C | donor_loss | 1.0000 |
| 14:22947167:TCAC:T | donor_loss | 1.0000 |
| 14:22947167:TCACC:T | donor_loss | 1.0000 |
| 14:22947168:CACCT:C | donor_loss | 1.0000 |
| 14:22947169:A:AT | donor_loss | 1.0000 |
| 14:22947170:C:CG | donor_loss | 1.0000 |
| 14:22947170:CC:C | donor_loss | 1.0000 |
| 14:22947597:TCA:T | donor_loss | 1.0000 |
| 14:22947598:CA:C | donor_loss | 1.0000 |
| 14:22947600:CCT:C | donor_gain | 1.0000 |
| 14:22947605:G:C | donor_gain | 1.0000 |
| 14:22947629:TG:T | donor_gain | 1.0000 |
| 14:22947634:T:TA | donor_gain | 1.0000 |
| 14:22947732:CTGAG:C | acceptor_loss | 1.0000 |
| 14:22947733:T:G | acceptor_loss | 1.0000 |
| 14:22947739:C:CT | acceptor_gain | 1.0000 |
| 14:22947739:C:T | acceptor_gain | 1.0000 |
| 14:22947739:CAAGA:C | acceptor_gain | 1.0000 |
| 14:22947740:A:T | acceptor_gain | 1.0000 |
| 14:22947743:A:AC | acceptor_gain | 1.0000 |
| 14:22947743:A:C | acceptor_gain | 1.0000 |
| 14:22947854:ATGC:A | donor_gain | 1.0000 |
| 14:22947857:C:CA | donor_gain | 1.0000 |
| 14:22950418:C:CT | acceptor_gain | 1.0000 |
| 14:22950418:CA:C | acceptor_gain | 1.0000 |
| 14:22950425:G:GC | acceptor_gain | 1.0000 |
| 14:22952700:C:CT | acceptor_gain | 1.0000 |
| 14:22952702:CAGG:C | acceptor_gain | 1.0000 |
| 14:22952705:G:GC | acceptor_gain | 1.0000 |
| 14:22952708:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
2378 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:22946615:A:C | F334L | 0.976 |
| 14:22946615:A:T | F334L | 0.976 |
| 14:22946617:A:G | F334L | 0.976 |
| 14:22947604:A:G | L279P | 0.960 |
| 14:22950361:A:G | L172P | 0.959 |
| 14:22947228:A:G | L284P | 0.953 |
| 14:22947697:A:G | L248P | 0.944 |
| 14:22947637:A:G | L268P | 0.942 |
| 14:22952426:A:G | W78R | 0.941 |
| 14:22952426:A:T | W78R | 0.941 |
| 14:22947719:A:G | C241R | 0.937 |
| 14:22951687:A:C | F111L | 0.937 |
| 14:22951687:A:T | F111L | 0.937 |
| 14:22951689:A:G | F111L | 0.937 |
| 14:22947627:C:A | K271N | 0.935 |
| 14:22947627:C:G | K271N | 0.935 |
| 14:22951676:A:G | L115P | 0.928 |
| 14:22946595:T:G | Y341S | 0.926 |
| 14:22947184:G:C | H299D | 0.923 |
| 14:22951664:A:G | L119P | 0.921 |
| 14:22952568:G:C | S57R | 0.920 |
| 14:22952568:G:T | S57R | 0.920 |
| 14:22952570:T:G | S57R | 0.920 |
| 14:22947706:A:G | L245P | 0.919 |
| 14:22946586:A:G | L344P | 0.918 |
| 14:22946616:A:G | F334S | 0.916 |
| 14:22947620:C:G | A274P | 0.913 |
| 14:22946596:A:C | Y341D | 0.911 |
| 14:22947606:C:A | K278N | 0.911 |
| 14:22947606:C:G | K278N | 0.911 |
dbSNP variants (sampled 300 via entrez): RS1000066543 (14:22948275 T>A,G), RS1000231326 (14:22958978 T>A,C), RS1000901034 (14:22954685 C>T), RS1001041001 (14:22958732 T>G), RS1001113098 (14:22959009 C>T), RS1001627474 (14:22954063 T>C), RS1001935039 (14:22955456 T>C), RS1001994859 (14:22953898 A>G), RS1002060697 (14:22948521 C>G), RS1002134361 (14:22948680 C>A), RS1002377045 (14:22948382 C>T), RS1002406141 (14:22955292 A>T), RS1002526239 (14:22949997 G>A), RS1002683004 (14:22956688 C>A,G,T), RS1002752997 (14:22949816 TAA>T)
Disease associations
OMIM: gene MIM:613431 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006135_13 | Cortical amyloid beta load | 6.000000e-06 |
| GCST006135_3 | Cortical amyloid beta load | 5.000000e-06 |
| GCST006135_4 | Cortical amyloid beta load | 4.000000e-07 |
| GCST006135_6 | Cortical amyloid beta load | 4.000000e-06 |
| GCST007430_55 | Peak expiratory flow | 5.000000e-06 |
| GCST007431_20 | Lung function (FEV1/FVC) | 8.000000e-15 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007707 | cerebral amyloid deposition measurement |
| EFO:0009718 | peak expiratory flow |
| EFO:0004713 | FEV/FVC ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 4 |
| bisphenol A | affects expression, increases methylation, affects cotreatment, increases expression | 3 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 3 |
| Cyclosporine | increases expression, decreases expression | 3 |
| perfluorooctane sulfonic acid | increases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Testosterone | affects cotreatment, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression, decreases reaction | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Vehicle Emissions | decreases reaction, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Coumestrol | affects cotreatment, 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.