ZNF516
gene geneOn this page
Also known as HsT287KIAA0222
Summary
ZNF516 (zinc finger protein 516, HGNC:28990) is a protein-coding gene on chromosome 18q23, encoding Zinc finger protein 516 (Q92618). Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation.
Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation.
Source: NCBI Gene 9658 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 246 total
- MANE Select transcript:
NM_014643
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28990 |
| Approved symbol | ZNF516 |
| Name | zinc finger protein 516 |
| Location | 18q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HsT287, KIAA0222 |
| Ensembl gene | ENSG00000101493 |
| Ensembl biotype | protein_coding |
| OMIM | 615114 |
| Entrez | 9658 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 13 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000443185, ENST00000532857, ENST00000542818, ENST00000543743, ENST00000617840, ENST00000871208, ENST00000871209, ENST00000871210, ENST00000915360, ENST00000915361, ENST00000915362, ENST00000957637, ENST00000957638, ENST00000957639
RefSeq mRNA: 1 — MANE Select: NM_014643
NM_014643
CCDS: CCDS74234
Canonical transcript exons
ENST00000443185 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001409124 | 76495144 | 76495242 |
| ENSE00001411234 | 76463028 | 76463141 |
| ENSE00001647913 | 76378855 | 76380303 |
| ENSE00001663270 | 76357682 | 76362557 |
| ENSE00003518162 | 76370528 | 76370595 |
| ENSE00003596540 | 76371467 | 76371571 |
| ENSE00003668447 | 76441245 | 76443211 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 94.63.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7054 / max 279.0276, expressed in 1454 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172477 | 2.4855 | 1046 |
| 172475 | 1.2682 | 630 |
| 172456 | 0.8854 | 460 |
| 172478 | 0.5852 | 343 |
| 172476 | 0.2233 | 106 |
| 172479 | 0.1970 | 70 |
| 172457 | 0.0309 | 6 |
| 172480 | 0.0298 | 4 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 94.63 | gold quality |
| endocervix | UBERON:0000458 | 94.04 | gold quality |
| left testis | UBERON:0004533 | 92.48 | gold quality |
| body of uterus | UBERON:0009853 | 92.23 | gold quality |
| right testis | UBERON:0004534 | 92.15 | gold quality |
| testis | UBERON:0000473 | 91.03 | gold quality |
| left ovary | UBERON:0002119 | 91.01 | gold quality |
| right uterine tube | UBERON:0001302 | 90.82 | gold quality |
| endometrium | UBERON:0001295 | 90.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.09 | gold quality |
| ectocervix | UBERON:0012249 | 90.05 | gold quality |
| right ovary | UBERON:0002118 | 89.84 | gold quality |
| monocyte | CL:0000576 | 89.64 | gold quality |
| mononuclear cell | CL:0000842 | 89.40 | gold quality |
| left uterine tube | UBERON:0001303 | 89.27 | gold quality |
| uterus | UBERON:0000995 | 89.00 | gold quality |
| leukocyte | CL:0000738 | 88.93 | gold quality |
| seminal vesicle | UBERON:0000998 | 88.65 | gold quality |
| blood | UBERON:0000178 | 88.52 | gold quality |
| ovary | UBERON:0000992 | 88.44 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.40 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.10 | gold quality |
| decidua | UBERON:0002450 | 87.92 | gold quality |
| myometrium | UBERON:0001296 | 87.78 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.37 | gold quality |
| tibial nerve | UBERON:0001323 | 86.39 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.06 | gold quality |
| female reproductive system | UBERON:0000474 | 85.80 | gold quality |
| pituitary gland | UBERON:0000007 | 85.74 | gold quality |
| sural nerve | UBERON:0015488 | 85.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
304 targeting ZNF516, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
Literature-anchored findings (GeneRIF, showing 4)
- one interacting gene pair (RBMS3 versus ZNF516) which, even after Bonferroni correction for multiple testing, showed consistently significant effects on hip bone mineral density. (PMID:23045156)
- ZNF516 promoter methylation was the best biomarker, with both sensitivity and specificity of 90% (AUC = 0.92), results subsequently corroborated in a Prevalence cohort. (PMID:24241165)
- ZNF516 represses EGFR transcription through the interaction with the CtBP/LSD1/CoREST complex. (PMID:28947780)
- MiR-371-5p regulates trophoblast cell proliferation, migration, and invasion by directly targeting ZNF516. (PMID:38761180)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp516 | ENSMUSG00000058881 |
| rattus_norvegicus | Zfp516 | ENSRNOG00000016258 |
Paralogs (14): HIVEP2 (ENSG00000010818), HIVEP1 (ENSG00000095951), SALL4 (ENSG00000101115), SALL1 (ENSG00000103449), BCL11A (ENSG00000119866), ZNF831 (ENSG00000124203), RREB1 (ENSG00000124782), HIVEP3 (ENSG00000127124), BCL11B (ENSG00000127152), ZNF219 (ENSG00000165804), SALL2 (ENSG00000165821), ZNF217 (ENSG00000171940), ZNF536 (ENSG00000198597), SALL3 (ENSG00000256463)
Protein
Protein identifiers
Zinc finger protein 516 — Q92618 (reviewed: Q92618)
All UniProt accessions (4): Q92618, A0A087WUJ4, F5H2K2, H0YH41
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis. May also play a role in the cellular response to replication stress.
Subunit / interactions. Interacts with PRDM16; the interaction is direct and may play a role in the transcription of brown adipose tissue-specific genes. Interacts with PWWP2B. Interacts with HDAC1; this interaction is enhanced in the presence of PWWP2B.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_055458* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR051967 | Krueppel_C2H2-ZF | Family |
Pfam: PF00096
UniProt features (35 total): compositionally biased region 11, zinc finger region 10, region of interest 7, cross-link 4, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92618-F1 | 51.85 | 0.04 |
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 (4): 643, 681, 1043, 1062
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 212 (showing top):
GOBP_RESPONSE_TO_COLD, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, TOMLINS_PROSTATE_CANCER_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, GOBP_BROWN_FAT_CELL_DIFFERENTIATION, MODULE_123, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOBP_FAT_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, GOBP_TEMPERATURE_HOMEOSTASIS, GOBP_ADIPOSE_TISSUE_DEVELOPMENT
GO Biological Process (7): regulation of DNA-templated transcription (GO:0006355), response to cold (GO:0009409), positive regulation of DNA-templated transcription (GO:0045893), brown fat cell differentiation (GO:0050873), adipose tissue development (GO:0060612), positive regulation of cold-induced thermogenesis (GO:0120162), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), cis-regulatory region sequence-specific DNA binding (GO:0000987), zinc ion binding (GO:0008270), DNA-binding transcription factor binding (GO:0140297), 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 |
|---|---|
| DNA-templated transcription | 2 |
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| response to stress | 1 |
| response to temperature stimulus | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| fat cell differentiation | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| positive regulation of multicellular organismal process | 1 |
| cold-induced thermogenesis | 1 |
| regulation of cold-induced thermogenesis | 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 |
| transcription cis-regulatory region binding | 1 |
| transition metal ion binding | 1 |
| transcription factor binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
732 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF516 | RCOR1 | Q9UKL0 | 888 |
| ZNF516 | PRDM16 | Q9HAZ2 | 826 |
| ZNF516 | CTBP1 | Q13363 | 803 |
| ZNF516 | CTBP2 | P56545 | 684 |
| ZNF516 | KLF3 | P57682 | 648 |
| ZNF516 | KDM1A | O60341 | 643 |
| ZNF516 | ZNF217 | O75362 | 637 |
| ZNF516 | MBOAT2 | Q6ZWT7 | 636 |
| ZNF516 | NRIP1 | P48552 | 614 |
| ZNF516 | CBX2 | Q14781 | 546 |
| ZNF516 | MEX3C | Q5U5Q3 | 539 |
| ZNF516 | ZMYM2 | Q9UBW7 | 535 |
| ZNF516 | ZMYM3 | Q14202 | 515 |
| ZNF516 | ZFPM1 | Q8IX07 | 497 |
| ZNF516 | SLC66A2 | Q8N2U9 | 488 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF516 | CTBP1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| ZNF516 | HDAC1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| S100B | S100A4 | psi-mi:“MI:0914”(association) | 0.870 |
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| CTBP1 | ZEB2 | psi-mi:“MI:0914”(association) | 0.800 |
| CTBP1 | KDM1A | psi-mi:“MI:0914”(association) | 0.790 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| MED23 | MED19 | psi-mi:“MI:2364”(proximity) | 0.770 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| CTBP1 | CBX4 | psi-mi:“MI:0914”(association) | 0.700 |
| ZNF516 | CTBP2 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ZNF516 | HDAC2 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ZNF516 | RCOR1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ZBTB18 | HSPA8 | psi-mi:“MI:0914”(association) | 0.640 |
| DCAF7 | PFDN6 | psi-mi:“MI:2364”(proximity) | 0.570 |
| ZNF516 | KDM1A | psi-mi:“MI:0914”(association) | 0.560 |
| ZNF516 | KDM1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB42 | MID1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (79): ZNF516 (Affinity Capture-MS), ZNF516 (Proximity Label-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Affinity Capture-RNA), ZNF516 (Proximity Label-MS), ZNF516 (Affinity Capture-MS), ZNF516 (Proximity Label-MS), ZNF516 (Proximity Label-MS), ZNF516 (Proximity Label-MS)
ESM2 similar proteins: A0A2Z4LIS9, A6QPM6, A7X8B3, A7X8B5, A7X8B7, A7X8C4, A7X8C7, A7X8C9, A7XW16, A7XW20, A7XW25, O08664, O15054, O43151, O70218, O89113, P09066, P14652, P17542, P19419, P19622, P22091, P23683, P49640, P70061, P78412, P82976, P97503, Q00587, Q04890, Q05916, Q05917, Q12950, Q15270, Q17QW1, Q3U133, Q5JPB2, Q5NCY0, Q6ZW13, Q80WY3
Diamond homologs: A1L2U9, A2A884, A2ANX9, B0X0K1, B0X9H6, B0XS89, B1WAZ8, B1WBU4, E9PZZ1, E9Q6W4, G5EBU4, O15090, O60315, O62836, O73694, O75362, O77459, P08048, P10925, P15822, P17010, P17012, P20662, P26635, P28166, P28575, P28698, P31509, P31629, P36197, P52739, P53243, P60319, P78871, P80944, Q00453, Q00900, Q01800, Q02026, Q02027
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 71 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 |
|---|---|---|---|
| Negative Regulation of CDH1 Gene Transcription | 8 | 20.5× | 1e-06 |
| Regulation of PTEN gene transcription | 5 | 19.0× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
246 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 211 |
| Likely benign | 16 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3172 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:76443210:ACCT:A | acceptor_loss | 1.0000 |
| 18:76443218:C:CT | acceptor_gain | 1.0000 |
| 18:76454219:A:C | acceptor_gain | 1.0000 |
| 18:76370316:AGAC:A | donor_gain | 0.9900 |
| 18:76370596:C:CC | acceptor_gain | 0.9900 |
| 18:76371619:G:C | acceptor_gain | 0.9900 |
| 18:76371625:G:C | acceptor_gain | 0.9900 |
| 18:76371625:G:GC | acceptor_gain | 0.9900 |
| 18:76371634:C:CT | acceptor_gain | 0.9900 |
| 18:76371642:C:CT | acceptor_gain | 0.9900 |
| 18:76371643:G:T | acceptor_gain | 0.9900 |
| 18:76380299:TCCCC:T | acceptor_gain | 0.9900 |
| 18:76380300:CCCC:C | acceptor_gain | 0.9900 |
| 18:76380300:CCCCC:C | acceptor_gain | 0.9900 |
| 18:76380301:CCC:C | acceptor_gain | 0.9900 |
| 18:76380301:CCCC:C | acceptor_gain | 0.9900 |
| 18:76380302:CC:C | acceptor_gain | 0.9900 |
| 18:76380302:CCC:C | acceptor_gain | 0.9900 |
| 18:76380303:CC:C | acceptor_gain | 0.9900 |
| 18:76380304:C:CC | acceptor_gain | 0.9900 |
| 18:76380304:C:G | acceptor_loss | 0.9900 |
| 18:76443207:AGCAC:A | acceptor_gain | 0.9900 |
| 18:76443208:GCAC:G | acceptor_gain | 0.9900 |
| 18:76443209:CAC:C | acceptor_gain | 0.9900 |
| 18:76443209:CACC:C | acceptor_gain | 0.9900 |
| 18:76443210:AC:A | acceptor_gain | 0.9900 |
| 18:76443211:CC:C | acceptor_gain | 0.9900 |
| 18:76443212:C:CC | acceptor_gain | 0.9900 |
| 18:76443219:A:T | acceptor_gain | 0.9900 |
| 18:76454218:C:CT | acceptor_gain | 0.9900 |
AlphaMissense
7603 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:76441483:G:C | F524L | 1.000 |
| 18:76441483:G:T | F524L | 1.000 |
| 18:76441485:A:G | F524L | 1.000 |
| 18:76442173:G:C | H294Q | 1.000 |
| 18:76442173:G:T | H294Q | 1.000 |
| 18:76442175:G:C | H294D | 1.000 |
| 18:76442200:G:C | F285L | 1.000 |
| 18:76442200:G:T | F285L | 1.000 |
| 18:76442201:A:G | F285S | 1.000 |
| 18:76442202:A:G | F285L | 1.000 |
| 18:76442223:A:G | C278R | 1.000 |
| 18:76442815:G:C | H80Q | 1.000 |
| 18:76442815:G:T | H80Q | 1.000 |
| 18:76442817:G:C | H80D | 1.000 |
| 18:76442825:A:G | L77P | 1.000 |
| 18:76442865:A:G | C64R | 1.000 |
| 18:76442887:G:C | H56Q | 1.000 |
| 18:76442887:G:T | H56Q | 1.000 |
| 18:76442894:C:G | R54P | 1.000 |
| 18:76442895:G:T | R54S | 1.000 |
| 18:76442899:G:C | H52Q | 1.000 |
| 18:76442899:G:T | H52Q | 1.000 |
| 18:76442901:G:C | H52D | 1.000 |
| 18:76442901:G:T | H52N | 1.000 |
| 18:76442926:G:C | F43L | 1.000 |
| 18:76442926:G:T | F43L | 1.000 |
| 18:76442928:A:G | F43L | 1.000 |
| 18:76441456:G:C | H533Q | 0.999 |
| 18:76441456:G:T | H533Q | 0.999 |
| 18:76441458:G:C | H533D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000006694 (18:76468673 G>C), RS1000033709 (18:76378176 C>T), RS1000033933 (18:76468273 A>G), RS1000062357 (18:76399046 C>G), RS1000104321 (18:76408147 G>A), RS1000134828 (18:76357966 T>C,G), RS1000140998 (18:76465392 G>GA), RS1000149698 (18:76451748 G>A), RS1000213952 (18:76439408 G>A,C), RS1000222000 (18:76429787 C>A,T), RS1000225494 (18:76450164 T>C), RS1000270973 (18:76431733 CCTTG>C), RS1000274487 (18:76439368 T>C), RS1000275184 (18:76396201 G>C), RS1000288116 (18:76391632 T>C)
Disease associations
OMIM: gene MIM:615114 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000785_7 | Longevity | 1.000000e-06 |
| GCST001713_28 | Dental caries | 4.000000e-06 |
| GCST001871_1 | Renal transplant outcome | 4.000000e-08 |
| GCST002688_4 | Very long-chain saturated fatty acid levels (fatty acid 22:0) | 6.000000e-06 |
| GCST004608_128 | Granulocyte percentage of myeloid white cells | 5.000000e-15 |
| GCST004609_89 | Monocyte percentage of white cells | 3.000000e-18 |
| GCST005580_107 | Intraocular pressure | 1.000000e-11 |
| GCST006073_52 | Tenofovir clearance in HIV infection | 4.000000e-06 |
| GCST006394_81 | Intraocular pressure | 4.000000e-08 |
| GCST006412_126 | Intraocular pressure | 2.000000e-08 |
| GCST006626_9 | Pulse pressure | 1.000000e-12 |
| GCST010002_143 | Refractive error | 3.000000e-08 |
| GCST012490_295 | Femur bone mineral density x serum urate levels interaction | 7.000000e-10 |
| GCST012490_449 | Femur bone mineral density x serum urate levels interaction | 2.000000e-10 |
| GCST90002393_624 | Monocyte count | 1.000000e-15 |
| GCST90002394_426 | Monocyte percentage of white cells | 5.000000e-46 |
| GCST90002398_96 | Neutrophil count | 9.000000e-19 |
| GCST90002399_259 | Neutrophil percentage of white cells | 9.000000e-13 |
| GCST90002404_198 | Red cell distribution width | 2.000000e-10 |
| GCST90002407_170 | White blood cell count | 2.000000e-13 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005199 | renal transplant outcome measurement |
| EFO:0006796 | very long-chain saturated fatty acid measurement |
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004531 | urate measurement |
| EFO:0005091 | monocyte count |
| EFO:0004833 | neutrophil count |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, affects methylation, decreases methylation | 3 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | 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.