ZNF497
gene geneOn this page
Also known as FLJ44773
Summary
ZNF497 (zinc finger protein 497, HGNC:23714) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 497 (Q6ZNH5). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.
Source: NCBI Gene 162968 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 117 total
- MANE Select transcript:
NM_198458
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23714 |
| Approved symbol | ZNF497 |
| Name | zinc finger protein 497 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ44773 |
| Ensembl gene | ENSG00000174586 |
| Ensembl biotype | protein_coding |
| Entrez | 162968 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 17 protein_coding
ENST00000311044, ENST00000425453, ENST00000595763, ENST00000902085, ENST00000902086, ENST00000902087, ENST00000902088, ENST00000902089, ENST00000902090, ENST00000902091, ENST00000902092, ENST00000914493, ENST00000914494, ENST00000914495, ENST00000966720, ENST00000966721, ENST00000966722
RefSeq mRNA: 2 — MANE Select: NM_198458
NM_001207009, NM_198458
CCDS: CCDS12977
Canonical transcript exons
ENST00000311044 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001210500 | 58354357 | 58357649 |
| ENSE00001376549 | 58362677 | 58362751 |
| ENSE00003580047 | 58358489 | 58358585 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 87.02.
FANTOM5 (CAGE): breadth broad, TPM avg 1.0577 / max 15.2469, expressed in 543 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182954 | 1.0577 | 543 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 87.02 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.58 | gold quality |
| cortical plate | UBERON:0005343 | 74.30 | gold quality |
| ventricular zone | UBERON:0003053 | 72.63 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 72.42 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 72.20 | gold quality |
| cerebellar cortex | UBERON:0002129 | 72.13 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 71.65 | silver quality |
| ganglionic eminence | UBERON:0004023 | 70.31 | gold quality |
| cerebellum | UBERON:0002037 | 70.06 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 69.91 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 69.64 | gold quality |
| adenohypophysis | UBERON:0002196 | 69.40 | gold quality |
| stromal cell of endometrium | CL:0002255 | 69.36 | gold quality |
| pituitary gland | UBERON:0000007 | 68.58 | gold quality |
| right frontal lobe | UBERON:0002810 | 68.15 | gold quality |
| thyroid gland | UBERON:0002046 | 67.97 | gold quality |
| metanephros cortex | UBERON:0010533 | 67.58 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 67.48 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 67.48 | gold quality |
| nucleus accumbens | UBERON:0001882 | 67.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 66.95 | gold quality |
| left uterine tube | UBERON:0001303 | 66.90 | gold quality |
| right lobe of liver | UBERON:0001114 | 66.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 66.58 | gold quality |
| body of pancreas | UBERON:0001150 | 66.58 | gold quality |
| endocervix | UBERON:0000458 | 66.54 | gold quality |
| right ovary | UBERON:0002118 | 66.31 | gold quality |
| left ovary | UBERON:0002119 | 65.72 | gold quality |
| fallopian tube | UBERON:0003889 | 65.72 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.83 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2567.1 | ZNF497 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:39605368
miRNA regulators (miRDB)
60 targeting ZNF497, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
Cross-species orthologs
25 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf646 | ENSDARG00000061424 |
| danio_rerio | si:dkey-89b17.4 | ENSDARG00000075545 |
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| danio_rerio | si:ch211-148l7.4 | ENSDARG00000094469 |
| danio_rerio | znf576.1 | ENSDARG00000097819 |
| drosophila_melanogaster | Sry-delta | FBGN0003512 |
| drosophila_melanogaster | az2 | FBGN0025185 |
| drosophila_melanogaster | hang | FBGN0026575 |
| drosophila_melanogaster | CG3032 | FBGN0029928 |
| drosophila_melanogaster | CG2129 | FBGN0030008 |
| drosophila_melanogaster | CG11695 | FBGN0030316 |
| drosophila_melanogaster | CG8944 | FBGN0030680 |
| drosophila_melanogaster | CG7101 | FBGN0030963 |
| drosophila_melanogaster | CG1602 | FBGN0033186 |
| drosophila_melanogaster | CG8089 | FBGN0033993 |
| drosophila_melanogaster | indra | FBGN0035213 |
| drosophila_melanogaster | CG10654 | FBGN0036294 |
| drosophila_melanogaster | CG6791 | FBGN0037918 |
| drosophila_melanogaster | CG17803 | FBGN0038547 |
| drosophila_melanogaster | CG12219 | FBGN0043796 |
| drosophila_melanogaster | CG30020 | FBGN0050020 |
| drosophila_melanogaster | pzg | FBGN0259785 |
| drosophila_melanogaster | mld | FBGN0263490 |
| drosophila_melanogaster | zf30C | FBGN0270924 |
| caenorhabditis_elegans | WBGENE00013734 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)
Protein
Protein identifiers
Zinc finger protein 497 — Q6ZNH5 (reviewed: Q6ZNH5)
All UniProt accessions (2): Q6ZNH5, M0R159
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 (2): NP_001193938, NP_940860* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050589 | Ikaros_C2H2-ZF | Family |
Pfam: PF00096
UniProt features (21 total): zinc finger region 14, sequence conflict 4, chain 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZNH5-F1 | 78.74 | 0.46 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 31 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, FOXJ2_TARGET_GENES, FOXN3_TARGET_GENES, HOXB4_TARGET_GENES, PITX1_TARGET_GENES, PPARGC1A_TARGET_GENES, MIR7106_5P, MIR4267, MIR6863, SAFB2_TARGET_GENES, MANNO_MIDBRAIN_NEUROTYPES_HRGL2A
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), 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 |
|---|---|
| regulation of DNA-templated transcription | 3 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
256 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF497 | ARMH2 | H3BNL8 | 580 |
| ZNF497 | RNF208 | Q9H0X6 | 570 |
| ZNF497 | ZMYND12 | Q9H0C1 | 479 |
| ZNF497 | ENTREP1 | Q15884 | 476 |
| ZNF497 | PARP8 | Q8N3A8 | 404 |
| ZNF497 | CCDC150 | Q8NCX0 | 402 |
| ZNF497 | ZBED1 | O96006 | 399 |
| ZNF497 | CCDC30 | Q5VVM6 | 371 |
| ZNF497 | TCTN1 | Q2MV58 | 368 |
| ZNF497 | TAFA2 | Q8N3H0 | 327 |
| ZNF497 | S100A13 | Q99584 | 317 |
| ZNF497 | HEXA | P06865 | 311 |
| ZNF497 | CATSPER3 | Q86XQ3 | 307 |
| ZNF497 | TMEM132A | Q24JP5 | 301 |
| ZNF497 | CCNDBP1 | O95273 | 287 |
IntAct
163 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF497 | CTSD | psi-mi:“MI:0915”(physical association) | 0.610 |
| CTSD | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.610 |
| NOTCH2NLC | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-2 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF792 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | KRTAP9-3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTPN21 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-9 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | ZBTB8A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | ZNF526 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | HOOK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-3 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | KRTAP4-4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | GGA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-3 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KHDRBS2 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | PURB | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF837 | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF497 | OSBPL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MCC | ZNF497 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (46): ZNF497 (Two-hybrid), ZNF497 (Affinity Capture-MS), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid), ZNF497 (Two-hybrid)
ESM2 similar proteins: A6NFI3, A6NM28, A8K8V0, O75467, O95201, P10075, P10078, P10754, P28698, P30373, P52736, P70338, Q0VCC5, Q14929, Q16587, Q17QR7, Q3KNW1, Q3URR7, Q3US17, Q58DK7, Q5FWU5, Q5RJR4, Q5T619, Q5U4E2, Q68H95, Q6AW86, Q6PD29, Q6PGE4, Q6ZMY9, Q6ZNH5, Q7Z7K2, Q8BI73, Q8JZL0, Q8N393, Q8N8E2, Q8NCA9, Q8R0T2, Q96BV0, Q96C28, Q96H86
Diamond homologs: B0K011, B0X9H6, E9Q6W4, O75362, O77459, P28698, P31509, P60319, P80944, P86413, Q01798, Q02026, Q02027, Q08DS3, Q0IHB8, Q292R5, Q29419, Q32NK7, Q3T135, Q3US17, Q567J8, Q5SVQ8, Q5XJQ7, Q66JF8, Q6AY34, Q6ZNH5, Q811F1, Q8BX22, Q8BY46, Q8N2R0, Q8TAX0, Q8TBZ5, Q8WUU4, Q91ZD1, Q99PV8, Q9C0K0, Q9H165, Q9H4T2, Q9QX96, Q9QYE3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 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 |
|---|---|---|---|
| Keratinization | 9 | 15.2× | 5e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
117 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
944 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:58357647:GACCT:G | acceptor_loss | 0.9900 |
| 19:58357651:T:G | acceptor_loss | 0.9900 |
| 19:58358483:CCATA:C | donor_loss | 0.9900 |
| 19:58358484:CATAC:C | donor_loss | 0.9900 |
| 19:58358485:ATAC:A | donor_loss | 0.9900 |
| 19:58358486:TA:T | donor_loss | 0.9900 |
| 19:58358488:CC:C | donor_loss | 0.9900 |
| 19:58358902:T:C | donor_gain | 0.9900 |
| 19:58361944:T:TA | donor_gain | 0.9900 |
| 19:58362428:A:C | donor_gain | 0.9900 |
| 19:58362523:T:TA | donor_gain | 0.9900 |
| 19:58358909:T:TA | donor_gain | 0.9800 |
| 19:58358925:T:TA | donor_gain | 0.9800 |
| 19:58362644:G:A | donor_gain | 0.9800 |
| 19:58362675:ACCGT:A | donor_gain | 0.9800 |
| 19:58362676:CCGTC:C | donor_gain | 0.9800 |
| 19:58358585:CCT:C | acceptor_loss | 0.9700 |
| 19:58358586:C:CA | acceptor_loss | 0.9700 |
| 19:58358587:T:A | acceptor_loss | 0.9700 |
| 19:58358901:A:AC | donor_gain | 0.9700 |
| 19:58358919:G:C | donor_gain | 0.9700 |
| 19:58358923:ACT:A | donor_gain | 0.9700 |
| 19:58358924:CTC:C | donor_gain | 0.9700 |
| 19:58358958:T:TA | donor_gain | 0.9700 |
| 19:58362675:A:AC | donor_gain | 0.9700 |
| 19:58362676:C:CC | donor_gain | 0.9700 |
| 19:58357650:C:CC | acceptor_gain | 0.9600 |
| 19:58357657:A:T | acceptor_gain | 0.9600 |
| 19:58358901:AT:A | donor_gain | 0.9600 |
| 19:58362481:T:TA | donor_gain | 0.9600 |
AlphaMissense
3257 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:58357207:G:C | F143L | 1.000 |
| 19:58357207:G:T | F143L | 1.000 |
| 19:58357209:A:G | F143L | 1.000 |
| 19:58356535:G:C | F367L | 0.999 |
| 19:58356535:G:T | F367L | 0.999 |
| 19:58356537:A:G | F367L | 0.999 |
| 19:58356871:G:C | F255L | 0.999 |
| 19:58356871:G:T | F255L | 0.999 |
| 19:58356873:A:G | F255L | 0.999 |
| 19:58356955:G:C | F227L | 0.999 |
| 19:58356955:G:T | F227L | 0.999 |
| 19:58356957:A:G | F227L | 0.999 |
| 19:58357039:G:C | F199L | 0.999 |
| 19:58357039:G:T | F199L | 0.999 |
| 19:58357041:A:G | F199L | 0.999 |
| 19:58357098:G:T | H180N | 0.999 |
| 19:58357123:G:C | F171L | 0.999 |
| 19:58357123:G:T | F171L | 0.999 |
| 19:58357125:A:G | F171L | 0.999 |
| 19:58357208:A:G | F143S | 0.999 |
| 19:58357209:A:T | F143I | 0.999 |
| 19:58356283:G:C | F451L | 0.998 |
| 19:58356283:G:T | F451L | 0.998 |
| 19:58356285:A:G | F451L | 0.998 |
| 19:58356619:G:C | F339L | 0.998 |
| 19:58356619:G:T | F339L | 0.998 |
| 19:58356621:A:G | F339L | 0.998 |
| 19:58356703:G:C | F311L | 0.998 |
| 19:58356703:G:T | F311L | 0.998 |
| 19:58356705:A:G | F311L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000283645 (19:58362062 T>C,G), RS1000479994 (19:58356961 C>G,T), RS1000962708 (19:58358154 CTCCACA>C), RS1001078658 (19:58357856 C>G,T), RS1001185552 (19:58357790 G>A,C,T), RS1001304020 (19:58362647 T>A), RS1001406924 (19:58359935 G>A), RS1001862443 (19:58363998 A>G), RS1001927471 (19:58360675 C>A), RS1001960006 (19:58361004 G>A), RS1002354462 (19:58362403 C>G), RS1002414843 (19:58362195 G>A,C), RS1002562361 (19:58356050 G>A,C), RS1002593331 (19:58358413 C>T), RS1002624385 (19:58358678 C>G,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| kojic acid | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Triiodothyronine | increases expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 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.