ZNF800
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Summary
ZNF800 (zinc finger protein 800, HGNC:27267) is a protein-coding gene on chromosome 7q31.33, encoding Zinc finger protein 800 (Q2TB10). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within acinar cell differentiation and endocrine pancreas development. Predicted to be located in nucleus.
Source: NCBI Gene 168850 — RefSeq curated summary.
At a glance
- GWAS associations: 33
- Clinical variants (ClinVar): 71 total
- MANE Select transcript:
NM_176814
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27267 |
| Approved symbol | ZNF800 |
| Name | zinc finger protein 800 |
| Location | 7q31.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000048405 |
| Ensembl biotype | protein_coding |
| OMIM | 621007 |
| Entrez | 168850 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000265827, ENST00000393312, ENST00000393313, ENST00000434602, ENST00000436992, ENST00000439506, ENST00000485577, ENST00000883726, ENST00000912485, ENST00000968374
RefSeq mRNA: 1 — MANE Select: NM_176814
NM_176814
CCDS: CCDS5795
Canonical transcript exons
ENST00000265827 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000364881 | 127377186 | 127377329 |
| ENSE00000882277 | 127391497 | 127391615 |
| ENSE00000882278 | 127386060 | 127386155 |
| ENSE00001209000 | 127373342 | 127375034 |
| ENSE00001514790 | 127370043 | 127371814 |
| ENSE00003849459 | 127392060 | 127392708 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 88.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.5846 / max 314.0702, expressed in 1822 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86029 | 35.9110 | 1819 |
| 86030 | 1.4757 | 856 |
| 86028 | 0.8032 | 449 |
| 86026 | 0.6475 | 249 |
| 86023 | 0.6092 | 316 |
| 86025 | 0.4172 | 150 |
| 86024 | 0.3656 | 151 |
| 86027 | 0.3551 | 123 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow cell | CL:0002092 | 88.99 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.94 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.45 | gold quality |
| leukocyte | CL:0000738 | 86.61 | gold quality |
| monocyte | CL:0000576 | 86.48 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.12 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.83 | gold quality |
| bone marrow | UBERON:0002371 | 84.87 | gold quality |
| granulocyte | CL:0000094 | 84.84 | gold quality |
| skin of leg | UBERON:0001511 | 84.62 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 84.59 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 84.55 | gold quality |
| pancreatic ductal cell | CL:0002079 | 84.35 | silver quality |
| lymph node | UBERON:0000029 | 84.35 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 84.33 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.20 | gold quality |
| right lung | UBERON:0002167 | 84.05 | gold quality |
| vermiform appendix | UBERON:0001154 | 83.93 | gold quality |
| pancreas | UBERON:0001264 | 83.89 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.82 | gold quality |
| rectum | UBERON:0001052 | 83.45 | gold quality |
| gall bladder | UBERON:0002110 | 83.34 | gold quality |
| blood | UBERON:0000178 | 83.29 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.14 | gold quality |
| zone of skin | UBERON:0000014 | 82.99 | gold quality |
| omental fat pad | UBERON:0010414 | 82.46 | gold quality |
| peritoneum | UBERON:0002358 | 82.41 | gold quality |
| tendon | UBERON:0000043 | 82.38 | gold quality |
| ventricular zone | UBERON:0003053 | 82.30 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 82.25 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.54 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2571.1 | ZNF800 | Factors with multiple dispersed zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:39605368
miRNA regulators (miRDB)
231 targeting ZNF800, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| 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-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
Literature-anchored findings (GeneRIF, showing 1)
- Unbiased transcription factor CRISPR screen identifies ZNF800 as master repressor of enteroendocrine differentiation. (PMID:37883554)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf800a | ENSDARG00000004594 |
| danio_rerio | znf800b | ENSDARG00000039843 |
| mus_musculus | Zfp800 | ENSMUSG00000039841 |
| rattus_norvegicus | Zfp800 | ENSRNOG00000007662 |
| drosophila_melanogaster | CG10979 | FBGN0037379 |
Protein
Protein identifiers
Zinc finger protein 800 — Q2TB10 (reviewed: Q2TB10)
All UniProt accessions (4): C9JHX9, C9JLY3, C9K0M9, Q2TB10
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.
RefSeq proteins (1): NP_789784* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR039149 | ZNF800 | Family |
| IPR041697 | Znf-C2H2_11 | Domain |
| IPR059121 | CCHC_ZFPM2-like | Domain |
Pfam: PF00096, PF16622, PF16624, PF25445
UniProt features (37 total): modified residue 9, zinc finger region 7, compositionally biased region 7, cross-link 7, region of interest 5, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2TB10-F1 | 62.59 | 0.09 |
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 (16): 317, 319, 336, 422, 426, 455, 457, 460, 462, 132, 279, 392, 409, 409, 476, 599
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 192 (showing top):
LFA1_Q6, CMYB_01, GGGTGGRR_PAX4_03, NFKB_C, GATA3_01, FOSTER_TOLERANT_MACROPHAGE_UP, GATA1_01, ATTACAT_MIR3803P, ACATTCC_MIR1_MIR206, HIF1_Q3, AACTTT_UNKNOWN, MYB_Q3, RYTTCCTG_ETS2_B, ELK1_01, P300_01
GO Biological Process (3): endocrine pancreas development (GO:0031018), acinar cell differentiation (GO:0090425), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (4): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), 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 |
|---|---|
| pancreas development | 1 |
| endocrine system development | 1 |
| anatomical structure development | 1 |
| glandular epithelial cell differentiation | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
382 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF800 | MYNN | Q9NPC7 | 439 |
| ZNF800 | ZNF532 | Q9HCE3 | 430 |
| ZNF800 | DCBLD2 | Q96PD2 | 397 |
| ZNF800 | ZC3H4 | Q9UPT8 | 370 |
| ZNF800 | PCMT1 | P22061 | 367 |
| ZNF800 | RFX7 | Q2KHR2 | 360 |
| ZNF800 | SEC24C | P53992 | 359 |
| ZNF800 | AKTIP | Q9H8T0 | 355 |
| ZNF800 | SLC13A3 | Q8WWT9 | 353 |
| ZNF800 | BRSK1 | Q8TDC3 | 330 |
| ZNF800 | CNOT6L | Q96LI5 | 305 |
| ZNF800 | MAPK15 | Q8TD08 | 301 |
| ZNF800 | APRT | P07741 | 280 |
| ZNF800 | MMD | Q15546 | 276 |
| ZNF800 | KRT9 | P35527 | 269 |
IntAct
50 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC2 | KDM1A | psi-mi:“MI:0914”(association) | 0.890 |
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| RBBP7 | HAT1 | psi-mi:“MI:0914”(association) | 0.730 |
| ZNF800 | MTA2 | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPA8 | ZNF800 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF800 | H3-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| VPS16 | IPO7 | psi-mi:“MI:0914”(association) | 0.350 |
| TM9SF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| Fbxo21 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CNTROB | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR8 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| CNBP | NOP56 | psi-mi:“MI:0914”(association) | 0.350 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.350 |
| ADARB1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (61): ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), MTA2 (Affinity Capture-MS), MTA3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A5WW08, F4HRV8, O17482, O60934, O88974, O94988, P12757, P14629, P49021, P79457, Q08AW4, Q08D35, Q12789, Q28C33, Q2TB10, Q3B7T1, Q3UD82, Q3UWM4, Q498F0, Q5F363, Q5F3F2, Q5FWP4, Q5HYC2, Q5JSH3, Q5R431, Q5R7T9, Q5R9R1, Q5RGA4, Q5VVJ2, Q60665, Q63505, Q69Z66, Q6GQV7, Q6INA9, Q6NVE8, Q6P256, Q6ZMT4, Q8C5W4
Diamond homologs: Q0VEE6, Q2TB10
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Regulation of TP53 Activity through Acetylation | 5 | 55.7× | 6e-06 |
| Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 | 5 | 46.4× | 8e-06 |
| RNA Polymerase I Transcription Initiation | 5 | 27.3× | 3e-05 |
| Regulation of PTEN gene transcription | 6 | 26.1× | 8e-06 |
| NuRD complex assembly | 6 | 20.6× | 2e-05 |
| Interaction of NuRD complexes with transcription factors | 6 | 18.6× | 3e-05 |
| ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression | 5 | 18.6× | 2e-04 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 5 | 17.9× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of stem cell differentiation | 5 | 67.2× | 2e-06 |
| rRNA processing | 5 | 12.4× | 2e-03 |
| nucleosome assembly | 5 | 12.3× | 2e-03 |
| chromatin remodeling | 8 | 10.2× | 1e-04 |
| negative regulation of cell migration | 5 | 9.8× | 4e-03 |
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 | 61 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
980 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:127375032:GGT:G | acceptor_gain | 1.0000 |
| 7:127375032:GGTCT:G | acceptor_loss | 1.0000 |
| 7:127375033:GT:G | acceptor_gain | 1.0000 |
| 7:127375033:GTC:G | acceptor_loss | 1.0000 |
| 7:127375034:TC:T | acceptor_loss | 1.0000 |
| 7:127375035:C:CC | acceptor_gain | 1.0000 |
| 7:127375035:CT:C | acceptor_loss | 1.0000 |
| 7:127375036:T:G | acceptor_loss | 1.0000 |
| 7:127377184:A:AC | donor_gain | 1.0000 |
| 7:127377185:C:CG | donor_gain | 1.0000 |
| 7:127377185:CT:C | donor_gain | 1.0000 |
| 7:127377185:CTGT:C | donor_gain | 1.0000 |
| 7:127377326:GTTC:G | acceptor_gain | 1.0000 |
| 7:127377327:TTC:T | acceptor_gain | 1.0000 |
| 7:127377328:TC:T | acceptor_gain | 1.0000 |
| 7:127377329:CC:C | acceptor_gain | 1.0000 |
| 7:127377330:C:CC | acceptor_gain | 1.0000 |
| 7:127375030:AAGGT:A | acceptor_gain | 0.9900 |
| 7:127375031:AGGT:A | acceptor_gain | 0.9900 |
| 7:127377180:ACTT:A | donor_loss | 0.9900 |
| 7:127377182:TT:T | donor_loss | 0.9900 |
| 7:127377183:TACTG:T | donor_loss | 0.9900 |
| 7:127377184:ACTGT:A | donor_gain | 0.9900 |
| 7:127377185:C:A | donor_loss | 0.9900 |
| 7:127377185:CTG:C | donor_gain | 0.9900 |
| 7:127377185:CTGTC:C | donor_gain | 0.9900 |
| 7:127392058:A:AC | donor_gain | 0.9900 |
| 7:127392059:C:CC | donor_gain | 0.9900 |
| 7:127392059:CTCAA:C | donor_gain | 0.9900 |
| 7:127375038:T:C | acceptor_gain | 0.9800 |
AlphaMissense
4384 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:127373725:A:C | H537Q | 1.000 |
| 7:127373725:A:T | H537Q | 1.000 |
| 7:127373727:G:C | H537D | 1.000 |
| 7:127373729:C:G | R536P | 1.000 |
| 7:127373747:C:G | R530P | 1.000 |
| 7:127373764:G:C | C524W | 1.000 |
| 7:127373765:C:A | C524F | 1.000 |
| 7:127373765:C:G | C524S | 1.000 |
| 7:127373765:C:T | C524Y | 1.000 |
| 7:127373766:A:G | C524R | 1.000 |
| 7:127373766:A:T | C524S | 1.000 |
| 7:127373773:A:C | C521W | 1.000 |
| 7:127373774:C:G | C521S | 1.000 |
| 7:127373775:A:G | C521R | 1.000 |
| 7:127373775:A:T | C521S | 1.000 |
| 7:127373812:G:C | H508Q | 1.000 |
| 7:127373812:G:T | H508Q | 1.000 |
| 7:127373813:T:C | H508R | 1.000 |
| 7:127373814:G:C | H508D | 1.000 |
| 7:127373814:G:T | H508N | 1.000 |
| 7:127373824:G:C | H504Q | 1.000 |
| 7:127373824:G:T | H504Q | 1.000 |
| 7:127373825:T:C | H504R | 1.000 |
| 7:127373825:T:G | H504P | 1.000 |
| 7:127373826:G:C | H504D | 1.000 |
| 7:127373826:G:T | H504N | 1.000 |
| 7:127373834:A:C | L501W | 1.000 |
| 7:127373834:A:G | L501S | 1.000 |
| 7:127373851:A:C | F495L | 1.000 |
| 7:127373851:A:T | F495L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000032664 (7:127360143 A>G), RS1000048916 (7:127384725 A>G), RS1000066653 (7:127389212 T>C,G), RS1000162704 (7:127366185 G>A,T), RS1000194624 (7:127362720 G>A), RS1000209212 (7:127347227 G>C), RS1000211452 (7:127369637 T>C), RS1000263930 (7:127370182 T>C), RS1000338403 (7:127383572 T>A), RS1000378191 (7:127376675 T>C), RS1000456515 (7:127391071 T>C), RS1000518151 (7:127343496 G>A), RS1000644637 (7:127371536 G>A), RS1000648169 (7:127386488 G>A), RS1000746379 (7:127372819 T>A)
Disease associations
OMIM: gene MIM:621007 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
33 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003818_9 | Resting heart rate | 4.000000e-10 |
| GCST006288_121 | Heel bone mineral density | 7.000000e-10 |
| GCST006288_655 | Heel bone mineral density | 3.000000e-16 |
| GCST006288_763 | Heel bone mineral density | 1.000000e-07 |
| GCST006979_214 | Heel bone mineral density | 7.000000e-45 |
| GCST007325_208 | General risk tolerance (MTAG) | 2.000000e-08 |
| GCST007325_236 | General risk tolerance (MTAG) | 5.000000e-09 |
| GCST009391_1775 | Metabolite levels | 7.000000e-07 |
| GCST009391_1778 | Metabolite levels | 3.000000e-06 |
| GCST009652_10 | Serum alkaline phosphatase levels | 7.000000e-09 |
| GCST009963_8 | Cataracts (operation) | 2.000000e-08 |
| GCST011353_47 | Serum alkaline phosphatase levels | 5.000000e-10 |
| GCST012013_23 | Cataracts | 2.000000e-12 |
| GCST90000025_309 | Appendicular lean mass | 3.000000e-27 |
| GCST90000026_11 | Appendicular lean mass | 5.000000e-10 |
| GCST90000027_37 | Appendicular lean mass | 2.000000e-20 |
| GCST90002388_401 | Lymphocyte count | 4.000000e-12 |
| GCST90002389_162 | Lymphocyte percentage of white cells | 2.000000e-09 |
| GCST90002389_163 | Lymphocyte percentage of white cells | 7.000000e-18 |
| GCST90002391_225 | Mean corpuscular hemoglobin concentration | 4.000000e-09 |
| GCST90002399_185 | Neutrophil percentage of white cells | 3.000000e-09 |
| GCST90002399_186 | Neutrophil percentage of white cells | 2.000000e-14 |
| GCST90002405_490 | Reticulocyte count | 2.000000e-09 |
| GCST90002406_258 | Reticulocyte fraction of red cells | 4.000000e-10 |
| GCST90007307_5 | circulating leptin levels | 8.000000e-08 |
| GCST90007310_5 | circulating leptin levels | 8.000000e-08 |
| GCST90007319_5 | circulating leptin levels adjusted for BMI | 2.000000e-12 |
| GCST90007320_3 | circulating leptin levels adjusted for BMI | 7.000000e-08 |
| GCST90007321_2 | circulating leptin levels adjusted for BMI | 2.000000e-07 |
| GCST90007322_1 | circulating leptin levels adjusted for BMI | 3.000000e-12 |
EFO canonical traits (14, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:0008579 | risk-taking behaviour |
| EFO:0010457 | Alpha ketoglutarate measurement |
| EFO:0010480 | fumarate measurement |
| EFO:0010509 | maleate measurement |
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0007986 | reticulocyte count |
| EFO:0005000 | leptin measurement |
| EFO:0007793 | BMI-adjusted leptin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, increases abundance, increases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression, affects expression, affects cotreatment | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| maleic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| torcetrapib | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | increases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Copper Sulfate | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HD45 | HEK293 eGFP-ZNF800 | Transformed cell line | Female |
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): cataract