ZSWIM8
gene geneOn this page
Also known as 4832404P21Rik
Summary
ZSWIM8 (zinc finger SWIM-type containing 8, HGNC:23528) is a protein-coding gene on chromosome 10q22.2, encoding Zinc finger SWIM domain-containing protein 8 (A7E2V4). Substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex that promotes target-directed microRNA degradation (TDMD), a process that mediates degradation of microRNAs (miRNAs).
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of macromolecule metabolic process; protein ubiquitination; and proteolysis involved in protein catabolic process. Part of Cul3-RING ubiquitin ligase complex.
Source: NCBI Gene 23053 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 114 total
- MANE Select transcript:
NM_001367799
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23528 |
| Approved symbol | ZSWIM8 |
| Name | zinc finger SWIM-type containing 8 |
| Location | 10q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 4832404P21Rik |
| Ensembl gene | ENSG00000214655 |
| Ensembl biotype | protein_coding |
| OMIM | 619213 |
| Entrez | 23053 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 11 protein_coding_CDS_not_defined, 9 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000398706, ENST00000412198, ENST00000425051, ENST00000431225, ENST00000433366, ENST00000446546, ENST00000451629, ENST00000466354, ENST00000466568, ENST00000487278, ENST00000489234, ENST00000492395, ENST00000603114, ENST00000603187, ENST00000603195, ENST00000603309, ENST00000603409, ENST00000603840, ENST00000604165, ENST00000604524, ENST00000604729, ENST00000604754, ENST00000605216
RefSeq mRNA: 4 — MANE Select: NM_001367799
NM_001242487, NM_001242488, NM_001367799, NM_015037
CCDS: CCDS44440, CCDS60560, CCDS91266
Canonical transcript exons
ENST00000604729 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001534587 | 73797377 | 73797605 |
| ENSE00001534615 | 73794541 | 73794639 |
| ENSE00001534646 | 73791859 | 73792852 |
| ENSE00001534648 | 73791324 | 73791499 |
| ENSE00001534649 | 73790975 | 73791176 |
| ENSE00001534651 | 73790172 | 73790292 |
| ENSE00001558487 | 73789096 | 73789190 |
| ENSE00001559353 | 73789367 | 73789539 |
| ENSE00001561830 | 73788670 | 73788823 |
| ENSE00003458535 | 73793588 | 73793719 |
| ENSE00003459821 | 73794147 | 73794330 |
| ENSE00003463348 | 73796774 | 73797014 |
| ENSE00003470122 | 73797781 | 73798070 |
| ENSE00003477654 | 73800011 | 73800170 |
| ENSE00003488564 | 73798230 | 73798453 |
| ENSE00003493517 | 73789956 | 73790037 |
| ENSE00003524227 | 73801017 | 73801195 |
| ENSE00003546674 | 73800296 | 73800472 |
| ENSE00003546711 | 73799002 | 73799490 |
| ENSE00003569739 | 73797113 | 73797271 |
| ENSE00003608443 | 73795539 | 73795663 |
| ENSE00003612567 | 73793865 | 73794044 |
| ENSE00003637955 | 73801316 | 73801793 |
| ENSE00003653266 | 73800640 | 73800759 |
| ENSE00003660193 | 73789717 | 73789824 |
| ENSE00003676025 | 73785606 | 73786086 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 99.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.8211 / max 437.8199, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 105550 | 20.5248 | 1815 |
| 105551 | 3.2054 | 1512 |
| 105549 | 0.0908 | 15 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.26 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.19 | gold quality |
| pituitary gland | UBERON:0000007 | 98.95 | gold quality |
| left testis | UBERON:0004533 | 98.80 | gold quality |
| right testis | UBERON:0004534 | 98.78 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.64 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.59 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.49 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.33 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.32 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.32 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.28 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.25 | gold quality |
| skin of leg | UBERON:0001511 | 98.24 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.21 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.18 | gold quality |
| lower esophagus | UBERON:0013473 | 98.18 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.18 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.13 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.11 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.07 | gold quality |
| endocervix | UBERON:0000458 | 98.02 | gold quality |
| ectocervix | UBERON:0012249 | 98.01 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.96 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.95 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.94 | gold quality |
| right ovary | UBERON:0002118 | 97.89 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.87 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.85 | gold quality |
| right uterine tube | UBERON:0001302 | 97.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting ZSWIM8, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-449B-3P | 99.20 | 67.24 | 1047 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-198 | 98.70 | 67.32 | 920 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-2278 | 97.30 | 66.19 | 1130 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-874-5P | 96.93 | 63.92 | 1014 |
| HSA-MIR-3651 | 95.62 | 64.67 | 287 |
| HSA-MIR-6753-5P | 94.70 | 64.08 | 470 |
Literature-anchored findings (GeneRIF, showing 4)
- A ubiquitin ligase mediates target-directed microRNA decay independently of tailing and trimming. (PMID:33184234)
- The ZSWIM8 ubiquitin ligase mediates target-directed microRNA degradation. (PMID:33184237)
- ZSWIM8 is a myogenic protein that partly prevents C2C12 differentiation. (PMID:34686700)
- The conserved Pelado/ZSWIM8 protein regulates actin dynamics by promoting linear actin filament polymerization. (PMID:35940847)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zswim8 | ENSDARG00000069397 |
| mus_musculus | Zswim8 | ENSMUSG00000021819 |
| rattus_norvegicus | Zswim8 | ENSRNOG00000056617 |
| drosophila_melanogaster | Dora | FBGN0085430 |
| caenorhabditis_elegans | WBGENE00004140 |
Paralogs (3): ZSWIM6 (ENSG00000130449), ZSWIM4 (ENSG00000132003), ZSWIM5 (ENSG00000162415)
Protein
Protein identifiers
Zinc finger SWIM domain-containing protein 8 — A7E2V4 (reviewed: A7E2V4)
All UniProt accessions (10): A7E2V4, H0YCW2, H7BZ52, H7C453, S4R393, S4R3B3, S4R3H3, S4R3S6, S4R3U7, S4R410
UniProt curated annotations — full annotation on UniProt →
Function. Substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex that promotes target-directed microRNA degradation (TDMD), a process that mediates degradation of microRNAs (miRNAs). The SCF-like E3 ubiquitin-protein ligase complex acts by catalyzing ubiquitination and subsequent degradation of AGO proteins (AGO1, AGO2, AGO3 and/or AGO4), thereby exposing miRNAs for degradation. Specifically recognizes and binds AGO proteins when they are engaged with a TDMD target. May also act as a regulator of axon guidance: specifically recognizes misfolded ROBO3 and promotes its ubiquitination and subsequent degradation. Plays an essential role for proper embryonic development of heart and lung. Controls protein quality of DAB1, a key signal molecule for brain development, thus protecting its signaling strength. Mechanistically, recognizes intrinsically disordered regions of DAB1 and eliminates misfolded DAB1 that cannot be properly phosphorylated. (Microbial infection) Participates in Zika virus inhibition of IFN signaling by acting as a scaffold protein to connect ZSWIM8/CUL3 ligase complex and STAT2, leading to STAT2 degradation.
Subunit / interactions. Component of the SCF-like E3 ubiquitin-protein ligase complex which contains CUL3, RBX1, ELOB, ELOC and ZSWIM8. (Microbial infection) Interacts with Zika virus protein NS5; this interaction allows STAT2 binding and subsequent proteasomal degradation.
Subcellular location. Cytoplasm. Cytosol.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the ZSWIM8 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A7E2V4-1 | 1 | yes |
| A7E2V4-2 | 2 | |
| A7E2V4-3 | 3 | |
| A7E2V4-4 | 4 | |
| A7E2V4-5 | 5 |
RefSeq proteins (4): NP_001229416, NP_001229417, NP_001354728, NP_055852 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007527 | Znf_SWIM | Domain |
| IPR048370 | ZSWIM4-8_C | Domain |
| IPR057945 | TPR_ZSWIM8 | Domain |
Pfam: PF21055, PF25572
UniProt features (43 total): modified residue 11, compositionally biased region 10, sequence conflict 10, region of interest 6, splice variant 4, chain 1, zinc finger region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9RWZ | ELECTRON MICROSCOPY | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A7E2V4-F1 | 63.33 | 0.29 |
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 (11): 36, 48, 53, 437, 567, 1139, 1153, 1156, 1160, 1267, 1836
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
MSigDB gene sets: 153 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AP4_Q6, CAGCTG_AP4_Q5, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, NF1_Q6_01, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, TCF11_01, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, ATF3_Q6, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, HAND1E47_01
GO Biological Process (6): protein quality control for misfolded or incompletely synthesized proteins (GO:0006515), protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), target-directed miRNA degradation (GO:0140958), positive regulation of miRNA catabolic process (GO:2000627), type I interferon-mediated signaling pathway (GO:0060337)
GO Molecular Function (3): zinc ion binding (GO:0008270), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), metal ion binding (GO:0046872)
GO Cellular Component (5): cytosol (GO:0005829), Cul2-RING ubiquitin ligase complex (GO:0031462), Cul3-RING ubiquitin ligase complex (GO:0031463), cytoplasm (GO:0005737), cullin-RING ubiquitin ligase complex (GO:0031461)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by ROBO receptors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| miRNA catabolic process | 2 |
| cellular anatomical structure | 2 |
| cullin-RING ubiquitin ligase complex | 2 |
| protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| post-transcriptional gene silencing | 1 |
| negative regulation of miRNA-mediated gene silencing | 1 |
| positive regulation of catabolic process | 1 |
| regulation of miRNA catabolic process | 1 |
| positive regulation of miRNA metabolic process | 1 |
| cellular response to type I interferon | 1 |
| interferon-mediated signaling pathway | 1 |
| transition metal ion binding | 1 |
| enzyme-substrate adaptor activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
| ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
845 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZSWIM8 | MRPS14 | O60783 | 535 |
| ZSWIM8 | ZBTB44 | Q8NCP5 | 528 |
| ZSWIM8 | CAAP1 | Q9H8G2 | 513 |
| ZSWIM8 | CLEC17A | Q6ZS10 | 483 |
| ZSWIM8 | TAF9B | Q9HBM6 | 476 |
| ZSWIM8 | BMS1 | Q14692 | 475 |
| ZSWIM8 | DDX52 | Q9Y2R4 | 474 |
| ZSWIM8 | SLC39A13 | Q96H72 | 447 |
| ZSWIM8 | SLC15A2 | Q16348 | 433 |
| ZSWIM8 | CUL2 | Q13617 | 418 |
| ZSWIM8 | ZSWIM2 | Q8NEG5 | 410 |
| ZSWIM8 | ZNRF2 | Q8NHG8 | 407 |
| ZSWIM8 | ECM1 | Q16610 | 407 |
| ZSWIM8 | ROBO2 | Q9HCK4 | 405 |
| ZSWIM8 | CEACAM1 | P13688 | 396 |
IntAct
66 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK1E | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSWIM8 | SURF6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZSWIM8 | CTDSP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZSWIM8 | SPG11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| STING1 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| NUAK1 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK1D | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK1G2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| AURKB | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| MAST1 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| ARRDC2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| TXNIP | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP16 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| RPL15 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| TULP2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| ASB3 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| FGF11 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPYL6 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| SOCS1 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (100): ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Proximity Label-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8HBI7, A0A1L8HJK9, A0A1L8HTT5, A6NP61, A7E2V4, B2RVL6, C0SPG1, C3VD30, K7SGN7, P56163, P56198, P62932, Q1XFL1, Q29RJ0, Q32L09, Q3UHH1, Q3V0J4, Q497M3, Q4R739, Q58D79, Q5EA86, Q5R8D5, Q5TKR9, Q5VWQ0, Q5XI33, Q6DMN8, Q768S4, Q7T3T8, Q7T3T9, Q7T3U0, Q80T69, Q8BV79, Q8BZ21, Q8CAK3, Q8CDN1, Q8HXK7, Q8K3Y6, Q8N2G6, Q8N9V6, Q8ND61
Diamond homologs: A7E2V4, A7E305, Q3UHH1, Q80TC6, Q8C7B8, Q9H7M6, Q9P217, Q9VWN9, Q80TB7, Q9HCJ5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4537 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:73786084:GAGG:G | donor_loss | 1.0000 |
| 10:73786085:AG:A | donor_loss | 1.0000 |
| 10:73786087:GTGA:G | donor_loss | 1.0000 |
| 10:73788646:T:TA | acceptor_gain | 1.0000 |
| 10:73788657:ATT:A | acceptor_gain | 1.0000 |
| 10:73788659:T:A | acceptor_gain | 1.0000 |
| 10:73788667:A:G | acceptor_gain | 1.0000 |
| 10:73789088:A:AG | acceptor_gain | 1.0000 |
| 10:73789089:C:G | acceptor_gain | 1.0000 |
| 10:73789091:CCCAG:C | acceptor_loss | 1.0000 |
| 10:73789092:CCA:C | acceptor_loss | 1.0000 |
| 10:73789094:A:AG | acceptor_gain | 1.0000 |
| 10:73789094:A:T | acceptor_loss | 1.0000 |
| 10:73789094:AG:A | acceptor_gain | 1.0000 |
| 10:73789094:AGGCT:A | acceptor_gain | 1.0000 |
| 10:73789095:G:GC | acceptor_gain | 1.0000 |
| 10:73789095:GG:G | acceptor_gain | 1.0000 |
| 10:73789095:GGC:G | acceptor_gain | 1.0000 |
| 10:73789095:GGCT:G | acceptor_gain | 1.0000 |
| 10:73789095:GGCTG:G | acceptor_gain | 1.0000 |
| 10:73789186:GATAG:G | donor_gain | 1.0000 |
| 10:73789187:A:G | donor_gain | 1.0000 |
| 10:73789187:ATAGG:A | donor_loss | 1.0000 |
| 10:73789189:AGG:A | donor_loss | 1.0000 |
| 10:73789191:G:GG | donor_gain | 1.0000 |
| 10:73789192:T:G | donor_loss | 1.0000 |
| 10:73789365:AG:A | acceptor_gain | 1.0000 |
| 10:73789366:GG:G | acceptor_gain | 1.0000 |
| 10:73789469:GCT:G | donor_gain | 1.0000 |
| 10:73789540:G:GG | donor_gain | 1.0000 |
AlphaMissense
11838 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:73785924:T:C | F16L | 1.000 |
| 10:73785926:C:A | F16L | 1.000 |
| 10:73785926:C:G | F16L | 1.000 |
| 10:73785942:T:C | F22L | 1.000 |
| 10:73785944:T:A | F22L | 1.000 |
| 10:73785944:T:G | F22L | 1.000 |
| 10:73785999:T:A | W41R | 1.000 |
| 10:73785999:T:C | W41R | 1.000 |
| 10:73786000:G:C | W41S | 1.000 |
| 10:73786001:G:C | W41C | 1.000 |
| 10:73786001:G:T | W41C | 1.000 |
| 10:73786008:T:A | W44R | 1.000 |
| 10:73786008:T:C | W44R | 1.000 |
| 10:73786010:G:C | W44C | 1.000 |
| 10:73786010:G:T | W44C | 1.000 |
| 10:73788688:T:G | L76W | 1.000 |
| 10:73788697:T:C | L79P | 1.000 |
| 10:73788702:G:C | A81P | 1.000 |
| 10:73788724:T:A | I88N | 1.000 |
| 10:73788729:T:A | F90I | 1.000 |
| 10:73788729:T:C | F90L | 1.000 |
| 10:73788730:T:C | F90S | 1.000 |
| 10:73788730:T:G | F90C | 1.000 |
| 10:73788731:T:A | F90L | 1.000 |
| 10:73788731:T:G | F90L | 1.000 |
| 10:73788742:A:T | E94V | 1.000 |
| 10:73788772:T:C | L104P | 1.000 |
| 10:73788778:T:C | L106P | 1.000 |
| 10:73788784:T:A | I108N | 1.000 |
| 10:73788784:T:G | I108S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000017397 (10:73798973 C>A,T), RS1000035989 (10:73793182 G>A), RS1000108319 (10:73799875 T>C), RS1000176467 (10:73798183 TG>T), RS1000419857 (10:73786457 A>G), RS1001247176 (10:73784802 A>G), RS1001388694 (10:73786625 A>C,G), RS1001635100 (10:73791557 G>A,C,T), RS1001689150 (10:73797237 G>A), RS1001899799 (10:73794014 G>C), RS1002055580 (10:73796219 C>T), RS1002609522 (10:73802195 T>A,C), RS1002907182 (10:73789938 C>T), RS1002923266 (10:73788877 T>G), RS1002958959 (10:73795248 T>C)
Disease associations
OMIM: gene MIM:619213 | 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 |
|---|---|---|
| GCST004132_74 | Crohn’s disease | 2.000000e-09 |
| GCST007656_13 | Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) | 2.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| sodium arsenite | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Resveratrol | affects cotreatment, decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | increases expression | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Mustard Gas | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Urethane | increases expression | 1 |
| Antirheumatic Agents | 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.