ZNF460
gene geneOn this page
Also known as HZF8
Summary
ZNF460 (zinc finger protein 460, HGNC:21628) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 460 (Q14592). May be involved in transcriptional regulation.
Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.
Source: NCBI Gene 10794 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_006635
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21628 |
| Approved symbol | ZNF460 |
| Name | zinc finger protein 460 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HZF8 |
| Ensembl gene | ENSG00000197714 |
| Ensembl biotype | protein_coding |
| OMIM | 604755 |
| Entrez | 10794 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000360338, ENST00000537645, ENST00000599602, ENST00000950772
RefSeq mRNA: 2 — MANE Select: NM_006635
NM_001330622, NM_006635
CCDS: CCDS12949, CCDS82404
Canonical transcript exons
ENST00000360338 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001405062 | 57280485 | 57280836 |
| ENSE00001418334 | 57290699 | 57294069 |
| ENSE00003694151 | 57284551 | 57284677 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 91.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.9130 / max 350.1447, expressed in 1812 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177753 | 12.9453 | 1776 |
| 177751 | 11.7271 | 1779 |
| 177750 | 1.7848 | 1073 |
| 177755 | 1.2265 | 680 |
| 177754 | 0.8813 | 547 |
| 177759 | 0.6810 | 404 |
| 177756 | 0.2640 | 119 |
| 177757 | 0.2254 | 87 |
| 177758 | 0.1076 | 32 |
| 177752 | 0.0700 | 24 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 91.44 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.43 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.38 | gold quality |
| sural nerve | UBERON:0015488 | 90.94 | gold quality |
| tendon | UBERON:0000043 | 89.87 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 89.39 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.35 | gold quality |
| bone marrow cell | CL:0002092 | 81.07 | gold quality |
| medial globus pallidus | UBERON:0002477 | 78.44 | gold quality |
| buccal mucosa cell | CL:0002336 | 77.86 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.80 | gold quality |
| cortical plate | UBERON:0005343 | 75.43 | gold quality |
| ventricular zone | UBERON:0003053 | 74.32 | gold quality |
| corpus callosum | UBERON:0002336 | 73.17 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 72.10 | gold quality |
| stromal cell of endometrium | CL:0002255 | 71.23 | gold quality |
| ganglionic eminence | UBERON:0004023 | 71.09 | gold quality |
| tonsil | UBERON:0002372 | 70.94 | gold quality |
| globus pallidus | UBERON:0001875 | 70.52 | gold quality |
| monocyte | CL:0000576 | 70.44 | gold quality |
| mononuclear cell | CL:0000842 | 70.25 | gold quality |
| leukocyte | CL:0000738 | 69.96 | gold quality |
| islet of Langerhans | UBERON:0000006 | 69.89 | gold quality |
| secondary oocyte | CL:0000655 | 68.23 | gold quality |
| muscle of leg | UBERON:0001383 | 67.07 | gold quality |
| gastrocnemius | UBERON:0001388 | 66.74 | gold quality |
| left ovary | UBERON:0002119 | 65.15 | gold quality |
| adrenal gland | UBERON:0002369 | 64.69 | gold quality |
| omental fat pad | UBERON:0010414 | 64.38 | gold quality |
| peritoneum | UBERON:0002358 | 64.32 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.18 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1596.1 | ZNF460 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:28473536
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
93 targeting ZNF460, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
Literature-anchored findings (GeneRIF, showing 4)
- Molecular cloning and tissue distribution of ZNF460. (PMID:15004467)
- Circular RNA mitochondrial translation optimization 1 homologue (CircMTO1) induced by zinc finger protein 460 (ZNF460) promotes oral squamous cell carcinoma progression through the microRNA miR-320a / alpha thalassemia/mental retardation, X-linked (ATRX) axis. (PMID:34738503)
- ZNF460 mediates epithelial-mesenchymal transition to promote gastric cancer progression by transactivating APOC1 expression. (PMID:36563923)
- ZNF460-regulated COMMD7 Promotes Acute Myeloid Leukemia Proliferation Via the NF-kappaB Signaling Pathway. (PMID:37057209)
Cross-species orthologs
0 orthologs
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 460 — Q14592 (reviewed: Q14592)
Alternative names: Zinc finger protein 272, Zinc finger protein HZF8
All UniProt accessions (2): Q14592, M0R0J6
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitously expressed at low levels. Highest levels are found in pancreas and liver.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14592-1 | 1 | yes |
| Q14592-2 | 2 |
RefSeq proteins (2): NP_001317551, NP_006626* (*=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 |
| IPR050331 | Zinc_finger_PRDM4/PRDM1/PRDM14 | Family |
Pfam: PF00096, PF01352
UniProt features (30 total): cross-link 15, zinc finger region 11, 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-Q14592-F1 | 66.89 | 0.33 |
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 (15): 117, 194, 203, 207, 209, 250, 278, 287, 300, 305, 306, 362, 371, 446, 455
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 69 (showing top):
GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, ACOSTA_PROLIFERATION_INDEPENDENT_MYC_TARGETS_UP, PDGF_UP.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CEBPZ_TARGET_GENES, ELF2_TARGET_GENES, FOXN3_TARGET_GENES, GLI3_TARGET_GENES, ID1_TARGET_GENES, KAT5_TARGET_GENES, NKX2_2_TARGET_GENES, ZBTB12_TARGET_GENES, ZFHX3_TARGET_GENES, ZNF10_TARGET_GENES, ZNF175_TARGET_GENES
GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), 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)
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 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| 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
442 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF460 | SERINC1 | Q9NRX5 | 543 |
| ZNF460 | DTWD2 | Q8NBA8 | 447 |
| ZNF460 | CNOT6L | Q96LI5 | 447 |
| ZNF460 | VAPA | Q9P0L0 | 400 |
| ZNF460 | NUDT13 | Q86X67 | 400 |
| ZNF460 | KLHL15 | Q96M94 | 393 |
| ZNF460 | PLEKHJ1 | Q9NW61 | 376 |
| ZNF460 | SLC35E4 | Q6ICL7 | 371 |
| ZNF460 | ZMYND19 | Q96E35 | 348 |
| ZNF460 | LMNTD1 | Q8N9Z9 | 324 |
| ZNF460 | PPP1R35 | Q8TAP8 | 323 |
| ZNF460 | K7EJK4 | K7EJK4 | 321 |
| ZNF460 | SCAMP4 | Q969E2 | 307 |
| ZNF460 | RBM12B | Q8IXT5 | 305 |
| ZNF460 | TMEM101 | Q96IK0 | 305 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF460 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GPR156 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| IPO8 | TRIM28 | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF250 | ZNF460 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGF12 | ZNF460 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DEUP1 | ZNF460 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF460 | ZNF250 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF460 | FGF12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF460 | DEUP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF460 | ZNF330 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO1 | ZNF460 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF460 | DMWD | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF460 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| VWCE | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF8 | DCAF8L1 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| RPF1 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (173): ZNF460 (Two-hybrid), ZNF250 (Two-hybrid), CCDC67 (Two-hybrid), ZNF460 (Affinity Capture-RNA), ZNF460 (Affinity Capture-RNA), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS)
ESM2 similar proteins: A1L1L7, A3KN36, D3ZVT0, O43296, P08042, P13682, P16373, P17023, P17097, P52738, P85977, Q02975, Q12901, Q14590, Q14592, Q2M3W8, Q2VY69, Q4V8A8, Q571J5, Q5CZA5, Q5R7I8, Q5RB33, Q5RBX0, Q61751, Q61967, Q6GQR8, Q6PF04, Q6ZNG0, Q6ZS27, Q86Y25, Q8BFS8, Q8BQC8, Q8IZ26, Q8N782, Q8N9Z0, Q8R1D1, Q8TF47, Q8WTR7, Q96LW1, Q9BS31
Diamond homologs: A2RRD8, A6NFI3, A6NM28, A8MUZ8, A8MWA4, B2RUI1, B4DU55, E9Q8G5, O43296, O43361, O75467, O75820, P0CH99, P0CI00, P10078, P16373, P16374, P17021, P17023, P17032, P17097, P17098, P21506, P51786, P52740, Q06732, Q08ER8, Q13106, Q13360, Q13398, Q14592, Q147U1, Q32M78, Q3KQV3, Q3MIS6, Q3SY52, Q571J5, Q5CZA5, Q5HY98, Q5R7I8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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 endogenous retroelements by KRAB-ZFP proteins | 6 | 13.6× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
225 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:57284676:GG:G | donor_gain | 1.0000 |
| 19:57284677:GG:G | donor_gain | 1.0000 |
| 19:57284678:G:C | donor_loss | 1.0000 |
| 19:57284679:T:G | donor_loss | 1.0000 |
| 19:57290694:TTCA:T | acceptor_loss | 1.0000 |
| 19:57290695:TCAG:T | acceptor_loss | 1.0000 |
| 19:57290696:CAG:C | acceptor_loss | 1.0000 |
| 19:57280836:GGT:G | donor_loss | 0.9900 |
| 19:57280837:G:GG | donor_gain | 0.9900 |
| 19:57284547:TCAG:T | acceptor_loss | 0.9900 |
| 19:57284548:CA:C | acceptor_loss | 0.9900 |
| 19:57284549:A:AC | acceptor_loss | 0.9900 |
| 19:57284550:G:T | acceptor_loss | 0.9900 |
| 19:57284550:GGA:G | acceptor_gain | 0.9900 |
| 19:57284678:G:GG | donor_gain | 0.9900 |
| 19:57290697:A:AG | acceptor_gain | 0.9900 |
| 19:57290698:G:GA | acceptor_gain | 0.9900 |
| 19:57290698:GGT:G | acceptor_gain | 0.9900 |
| 19:57280833:GCAG:G | donor_gain | 0.9800 |
| 19:57284540:T:TA | acceptor_gain | 0.9800 |
| 19:57284549:A:AG | acceptor_gain | 0.9800 |
| 19:57284549:AG:A | acceptor_gain | 0.9800 |
| 19:57284550:G:GG | acceptor_gain | 0.9800 |
| 19:57284550:GG:G | acceptor_gain | 0.9800 |
| 19:57284550:GGAGT:G | acceptor_gain | 0.9800 |
| 19:57290683:ATTGT:A | acceptor_gain | 0.9800 |
| 19:57290687:T:TA | acceptor_gain | 0.9800 |
| 19:57290695:TCAGG:T | acceptor_gain | 0.9800 |
| 19:57290696:CAGG:C | acceptor_gain | 0.9800 |
| 19:57290697:AG:A | acceptor_gain | 0.9800 |
AlphaMissense
3750 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:57291406:T:C | F289L | 0.999 |
| 19:57291408:T:A | F289L | 0.999 |
| 19:57291408:T:G | F289L | 0.999 |
| 19:57291658:T:C | F373L | 0.999 |
| 19:57291660:C:A | F373L | 0.999 |
| 19:57291660:C:G | F373L | 0.999 |
| 19:57291742:T:C | F401L | 0.999 |
| 19:57291744:T:A | F401L | 0.999 |
| 19:57291744:T:G | F401L | 0.999 |
| 19:57291761:T:C | L407P | 0.999 |
| 19:57291910:T:C | F457L | 0.999 |
| 19:57291912:T:A | F457L | 0.999 |
| 19:57291912:T:G | F457L | 0.999 |
| 19:57291994:T:C | F485L | 0.999 |
| 19:57291996:C:A | F485L | 0.999 |
| 19:57291996:C:G | F485L | 0.999 |
| 19:57291238:T:C | F233L | 0.998 |
| 19:57291240:C:A | F233L | 0.998 |
| 19:57291240:C:G | F233L | 0.998 |
| 19:57291322:T:C | F261L | 0.998 |
| 19:57291324:C:A | F261L | 0.998 |
| 19:57291324:C:G | F261L | 0.998 |
| 19:57291608:G:C | R356P | 0.998 |
| 19:57291826:T:C | F429L | 0.998 |
| 19:57291828:T:A | F429L | 0.998 |
| 19:57291828:T:G | F429L | 0.998 |
| 19:57291245:G:C | R235P | 0.997 |
| 19:57291490:T:C | F317L | 0.997 |
| 19:57291492:T:A | F317L | 0.997 |
| 19:57291492:T:G | F317L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000115705 (19:57283261 C>T), RS1000184005 (19:57287956 T>C), RS1000336512 (19:57281029 G>C), RS1001224352 (19:57284107 A>G), RS1001302417 (19:57279600 T>G), RS1001445360 (19:57289618 C>T), RS1001534395 (19:57293107 G>A), RS1001693583 (19:57287853 G>A), RS1001753460 (19:57282588 G>A), RS1001894980 (19:57289209 A>G), RS1002125047 (19:57280256 C>G), RS1002226675 (19:57285440 T>C), RS1002279119 (19:57285099 A>G), RS1002279828 (19:57278884 G>A), RS1002309322 (19:57279087 G>A)
Disease associations
OMIM: gene MIM:604755 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006979_687 | Heel bone mineral density | 3.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| Cadmium Chloride | increases abundance, increases expression | 3 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Estradiol | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| trichostatin A | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| resorcinol | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol Z | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 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.