ZNF444
gene geneOn this page
Also known as ZSCAN17FLJ11137EZF2
Summary
ZNF444 (zinc finger protein 444, HGNC:16052) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 444 (Q8N0Y2). Transcriptional regulator.
This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 55311 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_018337
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16052 |
| Approved symbol | ZNF444 |
| Name | zinc finger protein 444 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZSCAN17, FLJ11137, EZF2 |
| Ensembl gene | ENSG00000167685 |
| Ensembl biotype | protein_coding |
| OMIM | 607874 |
| Entrez | 55311 |
Gene structure
Transcript identifiers
Ensembl transcripts: 47 — 43 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000337080, ENST00000586123, ENST00000587195, ENST00000587236, ENST00000587467, ENST00000587664, ENST00000588203, ENST00000588358, ENST00000591564, ENST00000592171, ENST00000592949, ENST00000593100, ENST00000875358, ENST00000875359, ENST00000875360, ENST00000875361, ENST00000875362, ENST00000875363, ENST00000875364, ENST00000875365, ENST00000875366, ENST00000875367, ENST00000875368, ENST00000875369, ENST00000875370, ENST00000875371, ENST00000875372, ENST00000875373, ENST00000875374, ENST00000875375, ENST00000875376, ENST00000875377, ENST00000924374, ENST00000924375, ENST00000924376, ENST00000924377, ENST00000924378, ENST00000924379, ENST00000924380, ENST00000924381, ENST00000924382, ENST00000924383, ENST00000924384, ENST00000969530, ENST00000969531, ENST00000969532, ENST00000969533
RefSeq mRNA: 2 — MANE Select: NM_018337
NM_001253792, NM_018337
CCDS: CCDS12939, CCDS59426
Canonical transcript exons
ENST00000337080 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001342684 | 56159624 | 56160893 |
| ENSE00001422903 | 56146247 | 56146420 |
| ENSE00001423682 | 56141287 | 56141357 |
| ENSE00003498985 | 56158494 | 56158602 |
| ENSE00003619213 | 56146890 | 56147208 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 95.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3255 / max 66.4794, expressed in 1729 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177699 | 5.5581 | 1638 |
| 177702 | 1.3987 | 759 |
| 177698 | 1.1809 | 788 |
| 177700 | 0.9478 | 656 |
| 177701 | 0.2399 | 120 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 95.19 | gold quality |
| olfactory bulb | UBERON:0002264 | 94.88 | gold quality |
| vena cava | UBERON:0004087 | 94.57 | gold quality |
| right uterine tube | UBERON:0001302 | 94.03 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.99 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.88 | gold quality |
| body of pancreas | UBERON:0001150 | 93.17 | gold quality |
| diaphragm | UBERON:0001103 | 92.17 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 92.11 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.08 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.06 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.92 | silver quality |
| fundus of stomach | UBERON:0001160 | 91.89 | gold quality |
| putamen | UBERON:0001874 | 91.81 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.77 | gold quality |
| amygdala | UBERON:0001876 | 91.69 | gold quality |
| body of stomach | UBERON:0001161 | 91.65 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.50 | gold quality |
| pituitary gland | UBERON:0000007 | 91.42 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.40 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.31 | gold quality |
| lower esophagus | UBERON:0013473 | 91.29 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 91.25 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.03 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 91.01 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.86 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 90.84 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.55 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.42 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| SCARF1 | Activation |
miRNA regulators (miRDB)
61 targeting ZNF444, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
Literature-anchored findings (GeneRIF, showing 2)
- regulates the human gene encoding the scavenger receptor expressed by endothelial cells (PMID:11978792)
- t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 is associated with soft tissue myoepithelial carcinoma. (PMID:19760602)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plagx | ENSDARG00000036855 |
| danio_rerio | ovol1a | ENSDARG00000076472 |
| danio_rerio | plagl2 | ENSDARG00000076657 |
| danio_rerio | ovol1b | ENSDARG00000078256 |
| mus_musculus | Zfp444 | ENSMUSG00000044876 |
| rattus_norvegicus | Zfp444 | ENSRNOG00000015517 |
| drosophila_melanogaster | hb | FBGN0001180 |
| drosophila_melanogaster | CG12391 | FBGN0033581 |
| caenorhabditis_elegans | WBGENE00001824 | |
| caenorhabditis_elegans | WBGENE00003033 | |
| caenorhabditis_elegans | WBGENE00012385 |
Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)
Protein
Protein identifiers
Zinc finger protein 444 — Q8N0Y2 (reviewed: Q8N0Y2)
Alternative names: Endothelial zinc finger protein 2, Zinc finger and SCAN domain-containing protein 17
All UniProt accessions (7): Q8N0Y2, K7EJ91, K7EJH4, K7EK55, K7ELZ3, K7EMV5, K7ESL2
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional regulator. Binds to the 5’-flanking critical region of the SCARF1 promoter.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N0Y2-1 | 1 | yes |
| Q8N0Y2-2 | 2 |
RefSeq proteins (2): NP_001240721, NP_060807* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
Pfam: PF00096, PF02023
UniProt features (20 total): modified residue 4, zinc finger region 4, compositionally biased region 3, region of interest 3, cross-link 2, chain 1, domain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N0Y2-F1 | 69.09 | 0.03 |
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 (6): 1, 18, 104, 235, 8, 190
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 109 (showing top):
CACCAGC_MIR138, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, MODULE_205, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_206, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, GOCC_NUCLEOLUS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, BONOME_OVARIAN_CANCER_SURVIVAL_SUBOPTIMAL_DEBULKING, GCM_RAB10
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
860 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF444 | SCARF1 | Q14162 | 789 |
| ZNF444 | EWSR1 | Q01844 | 772 |
| ZNF444 | PBX1 | P40424 | 625 |
| ZNF444 | CLEC7A | Q9BXN2 | 586 |
| ZNF444 | PBX3 | P40426 | 542 |
| ZNF444 | SCARB2 | Q14108 | 502 |
| ZNF444 | CD36 | P16671 | 502 |
| ZNF444 | SCARB1 | Q8WTV0 | 475 |
| ZNF444 | NR4A3 | Q92570 | 461 |
| ZNF444 | POU5F1 | P31359 | 450 |
| ZNF444 | FUS | P35637 | 439 |
| ZNF444 | SMARCB1 | Q12824 | 373 |
| ZNF444 | TLR2 | O60603 | 351 |
| ZNF444 | TEK | Q02763 | 337 |
| ZNF444 | DUX4L2 | P0CJ85 | 327 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2CB | CEP43 | psi-mi:“MI:0914”(association) | 0.730 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| GPR156 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD10 | CLPX | psi-mi:“MI:0914”(association) | 0.640 |
| VWCE | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSCAN32 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF397 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| PNLIP | LAMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF263 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC6 | LZTS3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF444 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| AP3B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HTRA4 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| FBLN5 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| LTBP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| LRP3 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| SHISA3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| EFEMP1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF174 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| PRM2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| PTX3 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF232 | ZNF197 | psi-mi:“MI:0914”(association) | 0.350 |
| MZF1 | ZNF213 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF19 | PLD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF263 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF444 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.350 |
| RNH1 | DUSP11 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL10 | VAPB | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (159): ZNF444 (Affinity Capture-MS), ZNF444 (Affinity Capture-MS), ZNF444 (Affinity Capture-MS), ZNF444 (Affinity Capture-MS), CCDC6 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), KLHL15 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), RBM22 (Affinity Capture-MS), YBEY (Affinity Capture-MS), STRN3 (Affinity Capture-MS), ZKSCAN8 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF446 (Affinity Capture-MS), SCAND1 (Affinity Capture-MS)
ESM2 similar proteins: A2T7E6, A4D1S0, A6NGW2, B2RU40, C9JH25, C9JTQ0, D4A9R4, F2YMG0, O15533, O43593, O70146, O94761, P03971, P03972, P0CW18, P0DPE3, P27106, P49000, P79295, Q15569, Q17RM4, Q1JPB9, Q28616, Q3UM83, Q4TUC0, Q5M844, Q5R732, Q5TJE4, Q63572, Q6NZ36, Q6PZD2, Q6ZS72, Q6ZV89, Q7RTU9, Q866Y3, Q86YV9, Q8CAI1, Q8N0Y2, Q8N4L8, Q8N729
Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1320 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:56155854:C:G | donor_gain | 1.0000 |
| 19:56158542:G:GT | donor_gain | 1.0000 |
| 19:56146888:A:AG | acceptor_gain | 0.9900 |
| 19:56146889:G:GG | acceptor_gain | 0.9900 |
| 19:56146889:GGC:G | acceptor_gain | 0.9900 |
| 19:56147143:GCC:G | donor_gain | 0.9900 |
| 19:56147207:GG:G | donor_gain | 0.9900 |
| 19:56147208:GG:G | donor_gain | 0.9900 |
| 19:56158488:TTTCA:T | acceptor_loss | 0.9900 |
| 19:56158490:TCAG:T | acceptor_loss | 0.9900 |
| 19:56158491:CAGG:C | acceptor_loss | 0.9900 |
| 19:56158492:A:AG | acceptor_gain | 0.9900 |
| 19:56158492:A:C | acceptor_loss | 0.9900 |
| 19:56158492:AG:A | acceptor_gain | 0.9900 |
| 19:56158492:AGG:A | acceptor_gain | 0.9900 |
| 19:56158493:G:GG | acceptor_gain | 0.9900 |
| 19:56158493:GG:G | acceptor_gain | 0.9900 |
| 19:56158493:GGG:G | acceptor_gain | 0.9900 |
| 19:56158571:TGGA:T | donor_gain | 0.9900 |
| 19:56158578:G:GT | donor_gain | 0.9900 |
| 19:56158600:TAGG:T | donor_loss | 0.9900 |
| 19:56158602:GGT:G | donor_loss | 0.9900 |
| 19:56158603:G:GA | donor_loss | 0.9900 |
| 19:56158604:T:A | donor_loss | 0.9900 |
| 19:56159622:AGCAG:A | acceptor_gain | 0.9900 |
| 19:56159623:GCA:G | acceptor_gain | 0.9900 |
| 19:56159623:GCAGG:G | acceptor_gain | 0.9900 |
| 19:56159624:CAG:C | acceptor_loss | 0.9900 |
| 19:56159625:A:AC | acceptor_loss | 0.9900 |
| 19:56159625:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
2082 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:56159863:T:C | F216L | 1.000 |
| 19:56159865:T:A | F216L | 1.000 |
| 19:56159865:T:G | F216L | 1.000 |
| 19:56159992:T:C | F259L | 1.000 |
| 19:56159994:C:A | F259L | 1.000 |
| 19:56159994:C:G | F259L | 1.000 |
| 19:56160076:T:C | F287L | 1.000 |
| 19:56160078:C:A | F287L | 1.000 |
| 19:56160078:C:G | F287L | 1.000 |
| 19:56159864:T:C | F216S | 0.999 |
| 19:56160019:C:A | H268N | 0.999 |
| 19:56160019:C:G | H268D | 0.999 |
| 19:56160021:C:A | H268Q | 0.999 |
| 19:56160021:C:G | H268Q | 0.999 |
| 19:56160033:C:A | H272Q | 0.999 |
| 19:56160033:C:G | H272Q | 0.999 |
| 19:56160077:T:C | F287S | 0.999 |
| 19:56160103:C:A | H296N | 0.999 |
| 19:56160103:C:G | H296D | 0.999 |
| 19:56147114:T:C | F68S | 0.998 |
| 19:56159806:C:A | H197N | 0.998 |
| 19:56159806:C:G | H197D | 0.998 |
| 19:56159863:T:A | F216I | 0.998 |
| 19:56159890:C:A | H225N | 0.998 |
| 19:56159890:C:G | H225D | 0.998 |
| 19:56159993:T:C | F259S | 0.998 |
| 19:56160011:T:C | L265P | 0.998 |
| 19:56160031:C:G | H272D | 0.998 |
| 19:56160049:T:C | F278L | 0.998 |
| 19:56160051:T:A | F278L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000017491 (19:56133828 T>A,G), RS1000018935 (19:56160708 TG>T), RS1000155870 (19:56160488 C>G,T), RS1000170673 (19:56131716 T>C), RS1000228577 (19:56152622 G>A), RS1000307036 (19:56159380 C>T), RS1000317050 (19:56156689 C>T), RS1000356894 (19:56141651 A>G), RS1000435056 (19:56159218 T>C), RS1000455297 (19:56142751 G>A), RS1000483096 (19:56154927 G>A,T), RS1000533586 (19:56137873 G>A), RS1000669242 (19:56147266 C>T), RS1000712044 (19:56153271 AGTTT>A), RS1001019325 (19:56132359 T>C)
Disease associations
OMIM: gene MIM:607874 | 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 |
|---|---|---|
| GCST003253_2 | Microalbuminuria | 5.000000e-06 |
| GCST005991_73 | Platelet count | 2.000000e-17 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Cadmium Chloride | increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | 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.