ZNF317
gene geneOn this page
Summary
ZNF317 (zinc finger protein 317, HGNC:13507) is a protein-coding gene on chromosome 19p13.2, encoding Zinc finger protein 317 (Q96PQ6). May function as a transcription factor. It is a selective cancer dependency (DepMap: 10.8% of cell lines).
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus.
Source: NCBI Gene 57693 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 98 total
- Cancer dependency (DepMap): dependent in 10.8% of screened cell lines
- MANE Select transcript:
NM_020933
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13507 |
| Approved symbol | ZNF317 |
| Name | zinc finger protein 317 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000130803 |
| Ensembl biotype | protein_coding |
| OMIM | 613864 |
| Entrez | 57693 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 13 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000247956, ENST00000360385, ENST00000419608, ENST00000590152, ENST00000591278, ENST00000591508, ENST00000891822, ENST00000891823, ENST00000933872, ENST00000933873, ENST00000933874, ENST00000933875, ENST00000933876, ENST00000949134, ENST00000949135, ENST00000949136
RefSeq mRNA: 2 — MANE Select: NM_020933
NM_001190791, NM_020933
CCDS: CCDS12210, CCDS54213
Canonical transcript exons
ENST00000247956 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001345511 | 9155925 | 9156041 |
| ENSE00001683836 | 9157268 | 9157394 |
| ENSE00002754690 | 9140397 | 9140592 |
| ENSE00002874668 | 9160114 | 9163413 |
| ENSE00003561007 | 9156612 | 9156748 |
| ENSE00003686568 | 9158826 | 9158908 |
| ENSE00003688506 | 9157980 | 9158075 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 90.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2788 / max 124.1033, expressed in 1816 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173692 | 10.3239 | 1791 |
| 173691 | 9.9549 | 1792 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 90.84 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.40 | silver quality |
| upper arm skin | UBERON:0004263 | 90.11 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.96 | silver quality |
| kidney epithelium | UBERON:0004819 | 89.66 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 89.54 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.17 | gold quality |
| cortical plate | UBERON:0005343 | 89.15 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.36 | gold quality |
| embryo | UBERON:0000922 | 87.76 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.76 | gold quality |
| ventricular zone | UBERON:0003053 | 87.75 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.17 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.75 | gold quality |
| spleen | UBERON:0002106 | 86.56 | gold quality |
| apex of heart | UBERON:0002098 | 86.48 | gold quality |
| skin of leg | UBERON:0001511 | 86.31 | gold quality |
| leukocyte | CL:0000738 | 86.21 | gold quality |
| monocyte | CL:0000576 | 85.82 | gold quality |
| zone of skin | UBERON:0000014 | 85.64 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.06 | gold quality |
| pancreas | UBERON:0001264 | 85.03 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.00 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 84.99 | gold quality |
| lower esophagus | UBERON:0013473 | 84.94 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.93 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 84.63 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.57 | gold quality |
| body of pancreas | UBERON:0001150 | 84.47 | gold quality |
| body of stomach | UBERON:0001161 | 84.46 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.18 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1593.1 | ZNF317 | More than 3 adjacent zinc fingers |
| MA1593.2 | ZNF317 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:28273063
miRNA regulators (miRDB)
46 targeting ZNF317, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-323B-3P | 99.14 | 68.89 | 725 |
| HSA-MIR-198 | 98.70 | 67.32 | 920 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- molecular cloning and characterization of isoforms (PMID:11688974)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp317 | ENSMUSG00000057551 |
| rattus_norvegicus | Zfp317 | ENSRNOG00000006684 |
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), 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), ZNF3 (ENSG00000166526)
Protein
Protein identifiers
Zinc finger protein 317 — Q96PQ6 (reviewed: Q96PQ6)
All UniProt accessions (3): Q96PQ6, K7EKT9, K7ERD6
UniProt curated annotations — full annotation on UniProt →
Function. May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation.
Subcellular location. Nucleus.
Tissue specificity. Isoform 1 and isoform 2 are ubiquitously expressed. Isoform 3 and isoform 4 are expressed only in lymphocytes, spleen and lung.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96PQ6-1 | 2, ZNF317-2 | yes |
| Q96PQ6-2 | 1, ZNF317-1 | |
| Q96PQ6-3 | 3, ZNF317-3 | |
| Q96PQ6-4 | 4, ZNF317-4 |
RefSeq proteins (2): NP_001177720, NP_065984* (*=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 |
| IPR050752 | C2H2-ZF_domain | Family |
Pfam: PF00096, PF01352
UniProt features (20 total): zinc finger region 13, splice variant 2, chain 1, domain 1, region of interest 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96PQ6-F1 | 68.10 | 0.05 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-9843940 | Regulation of endogenous retroelements by KRAB-ZFP proteins |
MSigDB gene sets: 74 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, SENESE_HDAC1_TARGETS_UP, ZHANG_BREAST_CANCER_PROGENITORS_UP, chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GCM_DENR, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): 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), 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-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Regulation of endogenous retroelements | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 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 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
576 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF317 | OR4N4C | A0A096LPK9 | 507 |
| ZNF317 | CARM1 | Q86X55 | 488 |
| ZNF317 | CNDP2 | Q96KP4 | 393 |
| ZNF317 | PRR12 | Q9ULL5 | 377 |
| ZNF317 | GTF3C5 | Q9Y5Q8 | 375 |
| ZNF317 | DNAJC5G | Q8N7S2 | 355 |
| ZNF317 | CTPS2 | Q9NRF8 | 352 |
| ZNF317 | DHX15 | O43143 | 298 |
| ZNF317 | STX16 | O14662 | 286 |
| ZNF317 | SETD5 | Q9C0A6 | 270 |
| ZNF317 | ATMIN | O43313 | 263 |
| ZNF317 | TOP1 | P11387 | 258 |
| ZNF317 | KCNAB2 | Q13303 | 253 |
| ZNF317 | TRIM28 | Q13263 | 249 |
| ZNF317 | PRMT2 | P55345 | 242 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NKAPD1 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZNF317 | NKAPD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZNF317 | RBMY1A1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| RBMY1A1 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.740 |
| AEN | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF317 | AEN | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF837 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBMY1F | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBM10 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBMY1A1 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF317 | ZNF408 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF317 | CIB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF524 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLK2 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB48 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF648 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAHD1 | ZNF317 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| RSBN1 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (93): ZNF317 (Two-hybrid), ZNF317 (Two-hybrid), AEN (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-9 (Two-hybrid), RPL26L1 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPS3A (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), TUBA8 (Affinity Capture-MS), RPL13 (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), RBMY1A1 (Two-hybrid), TUBA8 (Affinity Capture-MS), ZNF317 (Affinity Capture-MS)
ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A6QLU5, B2RUI1, D3ZVT0, O14709, O43296, O75123, P10072, P15621, P17020, P17097, P51814, P85977, Q08ER8, Q0VGE8, Q14590, Q32KN0, Q3KQV3, Q4V8A8, Q5CZA5, Q5RBX0, Q5RCD9, Q5VIY5, Q61116, Q61967, Q6GQR8, Q6P9A3, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q86UD4, Q86WZ6, Q8BFS8, Q8IZ26, Q8N9F8, Q8TAF7
Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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 |
|---|---|---|---|
| Peptide chain elongation | 7 | 30.6× | 7e-08 |
| Viral mRNA Translation | 7 | 30.6× | 7e-08 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7 | 30.3× | 7e-08 |
| Selenocysteine synthesis | 7 | 29.0× | 7e-08 |
| Eukaryotic Translation Termination | 7 | 29.0× | 7e-08 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7 | 28.4× | 7e-08 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 7 | 28.4× | 7e-08 |
| SRP-dependent cotranslational protein targeting to membrane | 8 | 27.6× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 8 | 26.9× | 1e-07 |
| translation | 7 | 13.1× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1217 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:9140588:GTCGT:G | donor_gain | 1.0000 |
| 19:9140591:GT:G | donor_gain | 1.0000 |
| 19:9140593:G:GG | donor_gain | 1.0000 |
| 19:9143041:A:T | donor_gain | 1.0000 |
| 19:9157393:GG:G | donor_gain | 1.0000 |
| 19:9157394:GG:G | donor_gain | 1.0000 |
| 19:9157394:GGTAA:G | donor_loss | 1.0000 |
| 19:9157395:G:GA | donor_loss | 1.0000 |
| 19:9157395:G:GG | donor_gain | 1.0000 |
| 19:9158824:A:AG | acceptor_gain | 1.0000 |
| 19:9158824:AGATT:A | acceptor_gain | 1.0000 |
| 19:9158825:G:GA | acceptor_gain | 1.0000 |
| 19:9158825:GATT:G | acceptor_gain | 1.0000 |
| 19:9158825:GATTG:G | acceptor_gain | 1.0000 |
| 19:9158905:GATG:G | donor_gain | 1.0000 |
| 19:9158906:ATGGT:A | donor_loss | 1.0000 |
| 19:9158908:GGT:G | donor_loss | 1.0000 |
| 19:9158909:G:GG | donor_gain | 1.0000 |
| 19:9158909:G:T | donor_loss | 1.0000 |
| 19:9158910:TAAGA:T | donor_loss | 1.0000 |
| 19:9140589:TCGT:T | donor_gain | 0.9900 |
| 19:9140589:TCGTG:T | donor_loss | 0.9900 |
| 19:9140590:CGTG:C | donor_loss | 0.9900 |
| 19:9140591:GTGTA:G | donor_loss | 0.9900 |
| 19:9140593:G:T | donor_loss | 0.9900 |
| 19:9140594:T:TC | donor_loss | 0.9900 |
| 19:9156735:GT:G | donor_gain | 0.9900 |
| 19:9156742:TTCCC:T | donor_gain | 0.9900 |
| 19:9156881:G:GT | donor_gain | 0.9900 |
| 19:9158820:TTTCA:T | acceptor_loss | 0.9900 |
AlphaMissense
3979 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:9161260:T:C | F539L | 1.000 |
| 19:9161262:C:A | F539L | 1.000 |
| 19:9161262:C:G | F539L | 1.000 |
| 19:9160336:T:C | F231L | 0.999 |
| 19:9160338:C:A | F231L | 0.999 |
| 19:9160338:C:G | F231L | 0.999 |
| 19:9160420:T:C | F259L | 0.999 |
| 19:9160422:C:A | F259L | 0.999 |
| 19:9160422:C:G | F259L | 0.999 |
| 19:9160672:T:C | F343L | 0.999 |
| 19:9160674:C:A | F343L | 0.999 |
| 19:9160674:C:G | F343L | 0.999 |
| 19:9160756:T:C | F371L | 0.999 |
| 19:9160758:C:A | F371L | 0.999 |
| 19:9160758:C:G | F371L | 0.999 |
| 19:9161008:T:C | F455L | 0.999 |
| 19:9161010:C:A | F455L | 0.999 |
| 19:9161010:C:G | F455L | 0.999 |
| 19:9161210:G:C | R522P | 0.999 |
| 19:9161294:G:C | R550P | 0.999 |
| 19:9161344:T:C | F567L | 0.999 |
| 19:9161346:C:A | F567L | 0.999 |
| 19:9161346:C:G | F567L | 0.999 |
| 19:9160504:T:C | F287L | 0.998 |
| 19:9160506:C:A | F287L | 0.998 |
| 19:9160506:C:G | F287L | 0.998 |
| 19:9160701:C:A | H352Q | 0.998 |
| 19:9160701:C:G | H352Q | 0.998 |
| 19:9160924:T:C | F427L | 0.998 |
| 19:9160926:C:A | F427L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000307709 (19:9148251 C>T), RS1000470452 (19:9153741 T>C), RS1000595559 (19:9143300 T>G), RS1000667158 (19:9141887 C>T), RS1000700621 (19:9149304 T>G), RS1000708398 (19:9138593 C>A,G), RS1000763855 (19:9138884 T>G), RS1001049821 (19:9143949 T>G), RS1001209288 (19:9155307 C>G), RS1001387537 (19:9153144 TTGTTTTTGTTTG>T), RS1001390777 (19:9139034 G>A), RS1001442905 (19:9153480 G>A), RS1001575779 (19:9161549 G>A), RS1001603147 (19:9138461 G>A), RS1001629552 (19:9161209 C>G,T)
Disease associations
OMIM: gene MIM:613864 | 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 |
|---|---|---|
| GCST003542_87 | Night sleep phenotypes | 5.000000e-06 |
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 |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| Sunitinib | increases expression | 1 |
| Vehicle Emissions | decreases expression, decreases reaction | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Oils | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Particulate Matter | decreases expression, decreases reaction | 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.