ZNF831
geneOn this page
Also known as dJ492J12.1
Summary
ZNF831 (zinc finger protein 831, HGNC:16167) is a protein-coding gene on chromosome 20q13.32, encoding Zinc finger protein 831 (Q5JPB2).
Predicted to enable zinc ion binding activity.
Source: NCBI Gene 128611 — RefSeq curated summary.
At a glance
- GWAS associations: 38
- Clinical variants (ClinVar): 271 total
- MANE Select transcript:
NM_178457
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16167 |
| Approved symbol | ZNF831 |
| Name | zinc finger protein 831 |
| Location | 20q13.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ492J12.1 |
| Ensembl gene | ENSG00000124203 |
| Ensembl biotype | protein_coding |
| Entrez | 128611 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000371030, ENST00000610729, ENST00000637017
RefSeq mRNA: 2 — MANE Select: NM_178457
NM_001384354, NM_178457
CCDS: CCDS42894
Canonical transcript exons
ENST00000371030 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001288450 | 59252978 | 59253138 |
| ENSE00001288458 | 59206905 | 59207056 |
| ENSE00001288465 | 59195869 | 59196005 |
| ENSE00001454157 | 59253898 | 59259113 |
| ENSE00003792778 | 59190984 | 59194757 |
| ENSE00003918153 | 59163821 | 59164207 |
Expression profiles
Bgee: expression breadth ubiquitous, 113 present calls, max score 78.89.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2922 / max 193.6633, expressed in 131 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 185608 | 1.9067 | 118 |
| 185601 | 0.1425 | 48 |
| 185610 | 0.0900 | 49 |
| 185609 | 0.0812 | 43 |
| 185602 | 0.0719 | 36 |
Top tissues by expression
216 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 78.89 | gold quality |
| lymph node | UBERON:0000029 | 74.65 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 71.45 | gold quality |
| blood | UBERON:0000178 | 70.71 | gold quality |
| vermiform appendix | UBERON:0001154 | 68.48 | gold quality |
| spleen | UBERON:0002106 | 66.56 | gold quality |
| bone marrow cell | CL:0002092 | 64.23 | silver quality |
| superficial temporal artery | UBERON:0001614 | 63.47 | gold quality |
| colonic epithelium | UBERON:0000397 | 63.08 | silver quality |
| caecum | UBERON:0001153 | 62.37 | gold quality |
| tonsil | UBERON:0002372 | 62.22 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 58.12 | gold quality |
| prefrontal cortex | UBERON:0000451 | 58.07 | gold quality |
| nucleus accumbens | UBERON:0001882 | 57.72 | gold quality |
| small intestine | UBERON:0002108 | 56.79 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 56.29 | silver quality |
| gall bladder | UBERON:0002110 | 55.60 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 54.28 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 53.12 | gold quality |
| oral cavity | UBERON:0000167 | 53.04 | silver quality |
| frontal cortex | UBERON:0001870 | 52.94 | gold quality |
| amniotic fluid | UBERON:0000173 | 52.74 | gold quality |
| bone marrow | UBERON:0002371 | 52.74 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 52.46 | gold quality |
| neocortex | UBERON:0001950 | 52.15 | gold quality |
| rectum | UBERON:0001052 | 51.80 | gold quality |
| right frontal lobe | UBERON:0002810 | 51.73 | gold quality |
| amygdala | UBERON:0001876 | 51.59 | gold quality |
| cerebellar vermis | UBERON:0004720 | 51.40 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 51.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.42 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2534.1 | ZNF831 | Factors with multiple dispersed zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:39605320
miRNA regulators (miRDB)
161 targeting ZNF831, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf831 | ENSDARG00000074906 |
| mus_musculus | Zfp831 | ENSMUSG00000050600 |
| rattus_norvegicus | Zfp831 | ENSRNOG00000024693 |
Paralogs (14): HIVEP2 (ENSG00000010818), HIVEP1 (ENSG00000095951), SALL4 (ENSG00000101115), ZNF516 (ENSG00000101493), SALL1 (ENSG00000103449), BCL11A (ENSG00000119866), RREB1 (ENSG00000124782), HIVEP3 (ENSG00000127124), BCL11B (ENSG00000127152), ZNF219 (ENSG00000165804), SALL2 (ENSG00000165821), ZNF217 (ENSG00000171940), ZNF536 (ENSG00000198597), SALL3 (ENSG00000256463)
Protein
Protein identifiers
Zinc finger protein 831 — Q5JPB2 (reviewed: Q5JPB2)
All UniProt accessions (1): Q5JPB2
RefSeq proteins (2): NP_001371283, NP_848552* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (31 total): compositionally biased region 13, region of interest 11, sequence variant 3, zinc finger region 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FUF | X-RAY DIFFRACTION | 3.69 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5JPB2-F1 | 37.92 | 0.04 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 57 (showing top):
GOZGIT_ESR1_TARGETS_UP, NIKOLSKY_BREAST_CANCER_20Q12_Q13_AMPLICON, KUMAR_PATHOGEN_LOAD_BY_MACROPHAGES, KUMAR_AUTOPHAGY_NETWORK, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MAML1_TARGET_GENES, MIR340_5P, MIR4328, MIR19A_3P, MIR19B_3P, MIR4719, MIR142_5P, MIR3119, MIR218_5P, MIR1323
GO Biological Process (0):
GO Molecular Function (2): zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transition metal ion binding | 1 |
| cation binding | 1 |
Protein interactions and networks
STRING
1134 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF831 | PRELID3B | Q9Y3B1 | 543 |
| ZNF831 | JAKMIP2 | Q96AA8 | 490 |
| ZNF831 | ZNF687 | Q8N1G0 | 453 |
| ZNF831 | PLBD1 | Q6P4A8 | 451 |
| ZNF831 | ARHGAP9 | Q9BRR9 | 443 |
| ZNF831 | GRAP2 | O75791 | 441 |
| ZNF831 | ANKRD22 | Q5VYY1 | 436 |
| ZNF831 | OR5M11 | Q96RB7 | 429 |
| ZNF831 | MAP4K5 | Q9Y4K4 | 411 |
| ZNF831 | NEIL3 | Q8TAT5 | 403 |
| ZNF831 | BLK | P51451 | 398 |
| ZNF831 | RBM10 | P98175 | 398 |
| ZNF831 | SPTA1 | P02549 | 394 |
| ZNF831 | CABCOCO1 | Q8IVU9 | 391 |
| ZNF831 | IL2RG | P31785 | 388 |
IntAct
117 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HTRA1 | ZNF831 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | PARD3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | LNX2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | GORASP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | GORASP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RADIL | ZNF831 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | HTRA3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | ZNF831 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | GIPC2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | PTPN13 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | MPP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | PDZRN4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | ARHGAP21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | MPDZ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | NHERF4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | PALS2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF831 | TAX1BP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (7): ZNF831 (Affinity Capture-MS), ZNF831 (Affinity Capture-MS), ZNF831 (Affinity Capture-MS), ZNF831 (Affinity Capture-RNA), ZNF831 (Cross-Linking-MS (XL-MS)), ZNF831 (Affinity Capture-MS), ZNF831 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944
Diamond homologs: A1L2U9, A2A884, A2ANX9, A7Y7X5, B0X9H6, B0YDH7, B1WAZ8, B1WBU4, O35615, O62836, O77459, P08048, P10925, P15822, P17010, P17012, P20662, P31505, P31629, P60319, P78871, P80944, Q00900, Q01611, Q02031, Q03172, Q0IH98, Q0VCJ6, Q292R5, Q29419, Q3UHF7, Q52V16, Q5JPB2, Q5T1R4, Q6B4Z5, Q7JM44, Q811F1, Q86UZ6, Q8BID6, Q8CII0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 76 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 |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 57.1× | 1e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 54.4× | 1e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 54.4× | 1e-06 |
| Long-term potentiation | 5 | 47.6× | 2e-06 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 45.7× | 2e-11 |
| Neurexins and neuroligins | 10 | 39.4× | 9e-12 |
| Protein-protein interactions at synapses | 6 | 31.9× | 1e-06 |
| Neuronal System | 6 | 5.3× | 1e-02 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 80.7× | 1e-14 |
| protein localization to synapse | 6 | 63.8× | 4e-08 |
| receptor clustering | 7 | 60.7× | 4e-09 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 48.2× | 2e-08 |
| protein-containing complex assembly | 9 | 14.2× | 1e-06 |
| cell-cell adhesion | 10 | 14.1× | 2e-07 |
| protein localization to plasma membrane | 5 | 7.5× | 9e-03 |
| chemical synaptic transmission | 7 | 7.5× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
271 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 222 |
| Likely benign | 24 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1341 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:59195867:A:AG | acceptor_gain | 0.9900 |
| 20:59195868:G:GG | acceptor_gain | 0.9900 |
| 20:59207052:AGCAG:A | donor_loss | 0.9900 |
| 20:59207053:GCAGG:G | donor_loss | 0.9900 |
| 20:59207054:CAGG:C | donor_loss | 0.9900 |
| 20:59207055:AGG:A | donor_loss | 0.9900 |
| 20:59207056:GGTAA:G | donor_loss | 0.9900 |
| 20:59207057:G:T | donor_loss | 0.9900 |
| 20:59207058:T:A | donor_loss | 0.9900 |
| 20:59253053:A:T | donor_gain | 0.9800 |
| 20:59253115:G:T | donor_gain | 0.9800 |
| 20:59192834:G:GT | donor_gain | 0.9700 |
| 20:59192958:G:T | donor_gain | 0.9700 |
| 20:59194606:C:CA | acceptor_gain | 0.9700 |
| 20:59253886:A:AG | acceptor_gain | 0.9700 |
| 20:59206899:CTACA:C | acceptor_loss | 0.9600 |
| 20:59206900:TACAG:T | acceptor_loss | 0.9600 |
| 20:59206902:CAGGT:C | acceptor_loss | 0.9600 |
| 20:59206903:AGG:A | acceptor_loss | 0.9600 |
| 20:59206904:G:GA | acceptor_loss | 0.9600 |
| 20:59212389:C:G | donor_gain | 0.9600 |
| 20:59252972:TTGCA:T | acceptor_loss | 0.9600 |
| 20:59252973:TGCA:T | acceptor_loss | 0.9600 |
| 20:59252974:GCAGG:G | acceptor_loss | 0.9600 |
| 20:59252975:CAGGT:C | acceptor_loss | 0.9600 |
| 20:59252976:A:AC | acceptor_loss | 0.9600 |
| 20:59252977:G:A | acceptor_loss | 0.9600 |
| 20:59253052:G:GT | donor_gain | 0.9600 |
| 20:59192925:A:T | donor_gain | 0.9500 |
| 20:59207053:GCAG:G | donor_gain | 0.9500 |
AlphaMissense
10726 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:59191455:T:C | C146R | 0.999 |
| 20:59191560:T:C | F181L | 0.999 |
| 20:59191561:T:C | F181S | 0.999 |
| 20:59191562:T:A | F181L | 0.999 |
| 20:59191562:T:G | F181L | 0.999 |
| 20:59191565:G:C | K182N | 0.999 |
| 20:59191565:G:T | K182N | 0.999 |
| 20:59191584:A:G | K189E | 0.999 |
| 20:59191586:G:C | K189N | 0.999 |
| 20:59191586:G:T | K189N | 0.999 |
| 20:59191503:C:G | H162D | 0.998 |
| 20:59191505:C:A | H162Q | 0.998 |
| 20:59191505:C:G | H162Q | 0.998 |
| 20:59191510:G:C | R164P | 0.998 |
| 20:59191515:C:G | H166D | 0.998 |
| 20:59191517:C:A | H166Q | 0.998 |
| 20:59191517:C:G | H166Q | 0.998 |
| 20:59191539:T:C | C174R | 0.998 |
| 20:59191563:A:G | K182E | 0.998 |
| 20:59191577:T:A | N186K | 0.998 |
| 20:59191577:T:G | N186K | 0.998 |
| 20:59191587:C:G | H190D | 0.998 |
| 20:59191533:T:C | F172L | 0.997 |
| 20:59191535:C:A | F172L | 0.997 |
| 20:59191535:C:G | F172L | 0.997 |
| 20:59191560:T:A | F181I | 0.997 |
| 20:59191572:A:C | S185R | 0.997 |
| 20:59191574:C:A | S185R | 0.997 |
| 20:59191574:C:G | S185R | 0.997 |
| 20:59191579:T:C | L187P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000004268 (20:59167610 A>C), RS1000030774 (20:59142514 G>A), RS1000043647 (20:59124341 C>A), RS1000083124 (20:59186341 G>A,C,T), RS1000105347 (20:59124174 C>A), RS1000123041 (20:59227871 A>C,G), RS1000144065 (20:59222914 G>A), RS1000177126 (20:59228176 A>G), RS1000301936 (20:59141193 C>A), RS1000307847 (20:59222423 T>C), RS1000322274 (20:59181327 G>A,C), RS1000362087 (20:59228259 T>G), RS1000383916 (20:59222326 C>G), RS1000388951 (20:59129792 G>A), RS1000412332 (20:59135722 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
38 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000398_3 | Hypertension | 2.000000e-07 |
| GCST000514_10 | Response to antipsychotic therapy (extrapyramidal side effects) | 7.000000e-06 |
| GCST001725_67 | Inflammatory bowel disease | 1.000000e-12 |
| GCST003025_10 | Attention function in attention deficit hyperactive disorder | 3.000000e-06 |
| GCST004131_56 | Inflammatory bowel disease | 3.000000e-09 |
| GCST004132_76 | Crohn’s disease | 4.000000e-07 |
| GCST004616_169 | Platelet distribution width | 1.000000e-09 |
| GCST005537_57 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 4.000000e-12 |
| GCST006166_111 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 6.000000e-34 |
| GCST006166_73 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 2.000000e-26 |
| GCST006167_23 | Mean arterial pressure x alcohol consumption interaction (2df test) | 4.000000e-15 |
| GCST006167_82 | Mean arterial pressure x alcohol consumption interaction (2df test) | 4.000000e-12 |
| GCST006169_29 | Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test) | 4.000000e-11 |
| GCST006172_15 | Mean arterial pressure x alcohol consumption (light vs heavy) interaction (2df test) | 8.000000e-10 |
| GCST006187_45 | Diastolic blood pressure (cigarette smoking interaction) | 7.000000e-37 |
| GCST006188_15 | Systolic blood pressure (cigarette smoking interaction) | 3.000000e-22 |
| GCST006231_6 | Mean arterial pressure | 1.000000e-17 |
| GCST006434_19 | Systolic blood pressure x alcohol consumption interaction (2df test) | 6.000000e-21 |
| GCST006434_93 | Systolic blood pressure x alcohol consumption interaction (2df test) | 4.000000e-19 |
| GCST006988_35 | Blond vs. brown/black hair color | 4.000000e-13 |
| GCST006989_56 | Brown vs. black hair color | 2.000000e-12 |
| GCST007094_231 | Diastolic blood pressure | 3.000000e-27 |
| GCST007095_85 | Systolic blood pressure | 9.000000e-06 |
| GCST007096_229 | Pulse pressure | 8.000000e-06 |
| GCST007099_188 | Systolic blood pressure | 7.000000e-20 |
| GCST007267_159 | Systolic blood pressure | 2.000000e-15 |
| GCST007927_9 | Medication use (beta blocking agents) | 1.000000e-12 |
| GCST007928_49 | Medication use (diuretics) | 1.000000e-16 |
| GCST007929_69 | Medication use (calcium channel blockers) | 8.000000e-12 |
| GCST007930_63 | Medication use (agents acting on the renin-angiotensin system) | 4.000000e-28 |
EFO canonical traits (17, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007636 | attention function measurement |
| EFO:0007984 | platelet component distribution width |
| EFO:0004329 | alcohol drinking |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006340 | mean arterial pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0003924 | hair color |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009929 | Beta blocking agent use measurement |
| EFO:0009928 | Diuretic use measurement |
| EFO:0009930 | Calcium channel blocker use measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0005665 | white matter hyperintensity measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Cadmium | increases abundance, decreases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| licochalcone B | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Succimer | affects cotreatment, decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Nickel | increases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cyclosporine | decreases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Magnetite Nanoparticles | affects cotreatment, 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): ankylosing spondylitis, hypertensive disorder, myocardial infarction, sclerosing cholangitis