ZFP1
gene geneOn this page
Also known as PITAFLJ34243ZNF475
Summary
ZFP1 (ZFP1 zinc finger protein, HGNC:23328) is a protein-coding gene on chromosome 16q23.1, encoding Zinc finger protein 1 homolog (Q6P2D0). May be involved in transcriptional regulation.
This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 162239 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 71 total
- MANE Select transcript:
NM_153688
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23328 |
| Approved symbol | ZFP1 |
| Name | ZFP1 zinc finger protein |
| Location | 16q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PITA, FLJ34243, ZNF475 |
| Ensembl gene | ENSG00000184517 |
| Ensembl biotype | protein_coding |
| OMIM | 617230 |
| Entrez | 162239 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000332307, ENST00000393430, ENST00000464850, ENST00000563356, ENST00000564989, ENST00000566105, ENST00000567481, ENST00000568079, ENST00000570010, ENST00000870669, ENST00000870670, ENST00000870671, ENST00000931429
RefSeq mRNA: 8 — MANE Select: NM_153688
NM_001318469, NM_001318471, NM_001318472, NM_001318473, NM_001318474, NM_001318475, NM_001318476, NM_153688
CCDS: CCDS10914, CCDS82012, CCDS82013
Canonical transcript exons
ENST00000570010 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002605879 | 75148524 | 75148643 |
| ENSE00002620653 | 75169253 | 75172234 |
| ENSE00003483571 | 75166770 | 75166896 |
| ENSE00003634738 | 75152909 | 75152966 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 92.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7677 / max 117.4642, expressed in 1746 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155016 | 11.7677 | 1746 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 92.74 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.06 | gold quality |
| ventricular zone | UBERON:0003053 | 87.88 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.13 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.03 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.26 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.23 | gold quality |
| frontal cortex | UBERON:0001870 | 84.14 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.71 | gold quality |
| corpus callosum | UBERON:0002336 | 83.49 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 83.41 | gold quality |
| cerebral cortex | UBERON:0000956 | 83.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.94 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.49 | gold quality |
| liver | UBERON:0002107 | 82.24 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.23 | gold quality |
| nucleus accumbens | UBERON:0001882 | 81.67 | gold quality |
| right lobe of liver | UBERON:0001114 | 81.65 | gold quality |
| amygdala | UBERON:0001876 | 81.28 | gold quality |
| temporal lobe | UBERON:0001871 | 81.24 | gold quality |
| caudate nucleus | UBERON:0001873 | 80.91 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.91 | gold quality |
| endometrium | UBERON:0001295 | 80.88 | gold quality |
| brain | UBERON:0000955 | 80.82 | gold quality |
| putamen | UBERON:0001874 | 80.62 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 80.60 | gold quality |
| Ammon’s horn | UBERON:0001954 | 80.53 | gold quality |
| calcaneal tendon | UBERON:0003701 | 80.35 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 80.25 | gold quality |
| right coronary artery | UBERON:0001625 | 79.64 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.29 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| CD74 | |
| ERVW-4 | |
| SLC11A1 |
Upstream regulators (CollecTRI, top): PRDM1, STAT1
miRNA regulators (miRDB)
100 targeting ZFP1, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
Literature-anchored findings (GeneRIF, showing 1)
- ZFP1 is a biomarker related to poor prognosis and immunity in gastric cancer. (PMID:39261568)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp1 | ENSMUSG00000055835 |
| rattus_norvegicus | Zfp1 | ENSRNOG00000019059 |
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)
Protein
Protein identifiers
Zinc finger protein 1 homolog — Q6P2D0 (reviewed: Q6P2D0)
Alternative names: Zinc finger protein 475
All UniProt accessions (4): Q6P2D0, H3BM94, H3BV40, J3KNQ1
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P2D0-1 | 1 | yes |
| Q6P2D0-2 | 2 |
RefSeq proteins (8): NP_001305398, NP_001305400, NP_001305401, NP_001305402, NP_001305403, NP_001305404, NP_001305405, NP_710155* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352
UniProt features (16 total): zinc finger region 8, cross-link 3, region of interest 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P2D0-F1 | 65.56 | 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 (3): 74, 114, 145
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 172 (showing top):
GGAMTNNNNNTCCY_UNKNOWN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_UP, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, SANSOM_APC_TARGETS, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, SWEET_LUNG_CANCER_KRAS_UP, WONG_ADULT_TISSUE_STEM_MODULE, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, chr16q23, ESC_V6.5_UP_LATE.V1_DN
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
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)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
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 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 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
510 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZFP1 | CASZ1 | Q86V15 | 893 |
| ZFP1 | MYC | P01106 | 726 |
| ZFP1 | CDKN1A | P38936 | 605 |
| ZFP1 | PRDM2 | Q13029 | 589 |
| ZFP1 | DOT1L | Q8TEK3 | 505 |
| ZFP1 | CIZ1 | Q9ULV3 | 505 |
| ZFP1 | ZPR1 | O75312 | 472 |
| ZFP1 | SPRR1B | P22528 | 470 |
| ZFP1 | COMMD9 | Q9P000 | 455 |
| ZFP1 | GATM | P50440 | 445 |
| ZFP1 | TRMT11 | Q7Z4G4 | 429 |
| ZFP1 | DIRAS1 | O95057 | 427 |
| ZFP1 | KLK7 | P49862 | 426 |
| ZFP1 | PLEKHF1 | Q96S99 | 398 |
| ZFP1 | GEMIN5 | Q8TEQ6 | 386 |
| ZFP1 | KLK6 | Q92876 | 386 |
IntAct
88 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRT31 | HGS | psi-mi:“MI:0914”(association) | 0.780 |
| IPO8 | TRIM28 | psi-mi:“MI:0914”(association) | 0.640 |
| AKR1C2 | AKR1C4 | psi-mi:“MI:0914”(association) | 0.640 |
| ZFP1 | MAP3K20 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ZFP1 | TSPYL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDOC1 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT40 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | CCDC125 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | CARD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HAP1 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | CRLF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | TBC1D1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | HOOK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAVIN1 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POU6F2 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EMD | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF250 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | CIB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFAP1 | ZFP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP1 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| SERTAD4 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| WASHC3 | WASH3P | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (66): ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), ZFP1 (Two-hybrid), ZFP1 (Two-hybrid), ZFP1 (Two-hybrid), ZFP1 (Two-hybrid), ZFP1 (Two-hybrid), ZFP1 (Two-hybrid)
ESM2 similar proteins: A0JPL0, A3KN36, A7MBI1, A8MT65, B2RXC5, D3ZVT0, P08042, P21506, P51508, P52738, Q02525, Q06730, Q12901, Q2KI58, Q2M218, Q2M3W8, Q2M3X9, Q2VY69, Q49AA0, Q4R6J4, Q4V8A8, Q5FWF6, Q5HY98, Q5RB33, Q5RC79, Q5REF1, Q5T5D7, Q5VIY5, Q61967, Q6P2D0, Q6ZN11, Q86XU0, Q86Y25, Q8N782, Q8N859, Q8NB42, Q8TF39, Q8TF47, Q8WXB4, Q95K49
Diamond homologs: A0JPL0, A2VDP4, A6QLU5, A6QPT6, A8MQ14, A8MUZ8, A8MWA4, B1APH4, B2RXC5, E9PYI1, E9Q8G5, O75290, O94892, P08042, P0CH99, P0CI00, P17014, P17025, P17030, P17031, P17032, P17098, P21506, P51508, P51523, P51786, P51814, P52736, P52738, Q02525, Q03923, Q03936, Q06730, Q06732, Q0VCB0, Q13401, Q14587, Q16587, Q2M218, Q2M3X9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1075 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:75148645:T:A | donor_loss | 1.0000 |
| 16:75152907:A:AG | acceptor_gain | 1.0000 |
| 16:75152908:G:GA | acceptor_gain | 1.0000 |
| 16:75152908:GTT:G | acceptor_gain | 1.0000 |
| 16:75152908:GTTCT:G | acceptor_gain | 1.0000 |
| 16:75166893:GTGG:G | donor_gain | 1.0000 |
| 16:75152902:A:AG | acceptor_gain | 0.9900 |
| 16:75152904:TCCA:T | acceptor_loss | 0.9900 |
| 16:75152906:CAGTT:C | acceptor_loss | 0.9900 |
| 16:75152908:G:A | acceptor_loss | 0.9900 |
| 16:75152908:GT:G | acceptor_gain | 0.9900 |
| 16:75152908:GTTC:G | acceptor_gain | 0.9900 |
| 16:75152964:CAGGT:C | donor_loss | 0.9900 |
| 16:75152965:AGG:A | donor_loss | 0.9900 |
| 16:75152967:GT:G | donor_loss | 0.9900 |
| 16:75152968:TGAGT:T | donor_loss | 0.9900 |
| 16:75152969:GAGTT:G | donor_loss | 0.9900 |
| 16:75169251:A:AG | acceptor_gain | 0.9900 |
| 16:75169252:G:GG | acceptor_gain | 0.9900 |
| 16:75169252:GAA:G | acceptor_gain | 0.9900 |
| 16:75169252:GAAGT:G | acceptor_gain | 0.9900 |
| 5:122151777:A:AG | acceptor_gain | 0.9900 |
| 5:122151778:G:GG | acceptor_gain | 0.9900 |
| 16:75149258:G:GA | donor_gain | 0.9800 |
| 16:75149268:G:GG | donor_gain | 0.9800 |
| 16:75166723:T:G | acceptor_gain | 0.9800 |
| 16:75169245:A:AG | acceptor_gain | 0.9800 |
| 5:122129649:GCTC:G | donor_gain | 0.9800 |
| 5:122151776:CAGA:C | acceptor_loss | 0.9800 |
| 5:122151777:A:AT | acceptor_loss | 0.9800 |
AlphaMissense
2724 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:75169771:T:C | F221L | 0.999 |
| 16:75169773:C:A | F221L | 0.999 |
| 16:75169773:C:G | F221L | 0.999 |
| 16:75169790:T:C | L227P | 0.999 |
| 16:75169855:T:C | F249L | 0.999 |
| 16:75169857:C:A | F249L | 0.999 |
| 16:75169857:C:G | F249L | 0.999 |
| 16:75170191:T:C | F361L | 0.999 |
| 16:75170193:C:A | F361L | 0.999 |
| 16:75170193:C:G | F361L | 0.999 |
| 16:75170275:T:C | F389L | 0.999 |
| 16:75170277:T:A | F389L | 0.999 |
| 16:75170277:T:G | F389L | 0.999 |
| 16:75169939:T:C | F277L | 0.998 |
| 16:75169941:T:A | F277L | 0.998 |
| 16:75169941:T:G | F277L | 0.998 |
| 16:75169958:T:C | L283P | 0.998 |
| 16:75170042:T:C | L311P | 0.998 |
| 16:75170126:T:C | L339P | 0.998 |
| 16:75170225:G:C | R372P | 0.998 |
| 16:75169800:T:A | H230Q | 0.997 |
| 16:75169800:T:G | H230Q | 0.997 |
| 16:75169802:A:C | Q231P | 0.997 |
| 16:75169874:T:C | L255P | 0.997 |
| 16:75169968:C:A | H286Q | 0.997 |
| 16:75169968:C:G | H286Q | 0.997 |
| 16:75170054:A:C | Q315P | 0.997 |
| 16:75170107:T:C | F333L | 0.997 |
| 16:75170109:T:A | F333L | 0.997 |
| 16:75170109:T:G | F333L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000068594 (16:75154179 G>A,T), RS1000083076 (16:75141748 A>C), RS1000148973 (16:75148470 C>A,G), RS1000179135 (16:75127065 T>C), RS1000228112 (16:75131535 G>A), RS1000269076 (16:75162377 G>A,T), RS1000284932 (16:75122540 G>A), RS1000322517 (16:75166058 A>G), RS1000412207 (16:75148557 C>CA), RS1000436101 (16:75136552 A>G), RS1000467084 (16:75118600 C>T), RS1000584335 (16:75117595 G>A,C), RS1000592617 (16:75139627 G>A,T), RS1000625267 (16:75144123 T>G), RS1000650239 (16:75171182 C>A,T)
Disease associations
OMIM: gene MIM:617230 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002553_10 | Pancreatic cancer | 1.000000e-10 |
| GCST004860_122 | Alcoholic chronic pancreatitis | 4.000000e-09 |
| GCST004860_124 | Alcoholic chronic pancreatitis | 8.000000e-07 |
| GCST004860_136 | Alcoholic chronic pancreatitis | 2.000000e-06 |
| GCST004860_62 | Alcoholic chronic pancreatitis | 5.000000e-06 |
| GCST90002382_445 | Eosinophil percentage of white cells | 2.000000e-10 |
| GCST90002388_172 | Lymphocyte count | 4.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 3 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | decreases expression, increases abundance, affects cotreatment | 1 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ozone | affects cotreatment, decreases expression, increases abundance | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Urethane | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | increases expression | 1 |
| Volatile Organic Compounds | 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): alcoholic pancreatitis