ZNF395
gene geneOn this page
Also known as PRF-1HDBP2PBFDKFZp434K1210
Summary
ZNF395 (zinc finger protein 395, HGNC:18737) is a protein-coding gene on chromosome 8p21.1, encoding Zinc finger protein 395 (Q9H8N7). Plays a role in papillomavirus genes transcription.
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol and nuclear speck.
Source: NCBI Gene 55893 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 82 total
- Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
- MANE Select transcript:
NM_018660
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18737 |
| Approved symbol | ZNF395 |
| Name | zinc finger protein 395 |
| Location | 8p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PRF-1, HDBP2, PBF, DKFZp434K1210 |
| Ensembl gene | ENSG00000186918 |
| Ensembl biotype | protein_coding |
| OMIM | 609494 |
| Entrez | 55893 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 36 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000344423, ENST00000517372, ENST00000517459, ENST00000519730, ENST00000520290, ENST00000520535, ENST00000521185, ENST00000521912, ENST00000522795, ENST00000523095, ENST00000523202, ENST00000887379, ENST00000887380, ENST00000887381, ENST00000887382, ENST00000887383, ENST00000887384, ENST00000887385, ENST00000887386, ENST00000887387, ENST00000887388, ENST00000887389, ENST00000887390, ENST00000887391, ENST00000887392, ENST00000887393, ENST00000887394, ENST00000887395, ENST00000887396, ENST00000887397, ENST00000887398, ENST00000914548, ENST00000942495, ENST00000942496, ENST00000942497, ENST00000942498, ENST00000942499, ENST00000942500
RefSeq mRNA: 1 — MANE Select: NM_018660
NM_018660
CCDS: CCDS6067
Canonical transcript exons
ENST00000344423 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001414788 | 28345590 | 28348830 |
| ENSE00001420932 | 28386393 | 28386460 |
| ENSE00003505029 | 28356670 | 28356779 |
| ENSE00003516537 | 28352573 | 28352673 |
| ENSE00003543568 | 28353173 | 28353408 |
| ENSE00003618611 | 28351495 | 28351807 |
| ENSE00003641016 | 28359592 | 28359824 |
| ENSE00003653368 | 28350064 | 28350156 |
| ENSE00003676492 | 28360885 | 28361182 |
| ENSE00003683775 | 28349125 | 28349228 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 96.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9241 / max 128.3385, expressed in 1619 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 92527 | 4.5593 | 1424 |
| 92531 | 1.5832 | 1034 |
| 92529 | 0.2951 | 136 |
| 92526 | 0.2729 | 136 |
| 92528 | 0.1975 | 67 |
| 92532 | 0.0161 | 6 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nipple | UBERON:0002030 | 96.02 | gold quality |
| parietal pleura | UBERON:0002400 | 95.15 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.10 | gold quality |
| secondary oocyte | CL:0000655 | 94.78 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 94.77 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.63 | gold quality |
| left ovary | UBERON:0002119 | 94.48 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.26 | gold quality |
| pericardium | UBERON:0002407 | 94.25 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.06 | gold quality |
| ovary | UBERON:0000992 | 94.05 | gold quality |
| tonsil | UBERON:0002372 | 94.01 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.99 | gold quality |
| tibia | UBERON:0000979 | 93.96 | gold quality |
| right ovary | UBERON:0002118 | 93.90 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.82 | gold quality |
| tibial artery | UBERON:0007610 | 93.81 | gold quality |
| popliteal artery | UBERON:0002250 | 93.80 | gold quality |
| parotid gland | UBERON:0001831 | 93.78 | gold quality |
| upper leg skin | UBERON:0004262 | 93.71 | gold quality |
| body of pancreas | UBERON:0001150 | 93.62 | gold quality |
| saphenous vein | UBERON:0007318 | 93.62 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.58 | gold quality |
| squamous epithelium | UBERON:0006914 | 93.52 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 93.36 | gold quality |
| ventricular zone | UBERON:0003053 | 93.27 | gold quality |
| sural nerve | UBERON:0015488 | 93.25 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.18 | gold quality |
| skin of leg | UBERON:0001511 | 93.10 | gold quality |
| zone of skin | UBERON:0000014 | 93.05 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
8 targets.
| Target | Regulation |
|---|---|
| HTT | |
| IFIT1 | |
| PRF1 | |
| SAP30 | |
| SLC16A2 | |
| SLC5A5 | |
| SUPT7L | |
| TP53 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2566.1 | ZNF395 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:14625278
miRNA regulators (miRDB)
179 targeting ZNF395, 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-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 12)
- HDBP1 and HDBP2 are novel transcription factors shuttling between nucleus and cytoplasm and bind to the specific GCCGGCG, which is an essential cis-element for HD gene expression in neuronal cells (PMID:14625278)
- PBF is an osteosarcoma-associated antigen recognized by autologous cytotoxic T-lymphocyte clone in the context of HLA-B*5502. (PMID:15289353)
- PBF is a new cellular factor mediating the effects of PI3K/Akt signaling and 14-3-3 on cell growth (PMID:17531190)
- PBF binds to SAP30 and represses transcription via recruitment of the HDAC1 co-repressor complex (PMID:17897615)
- colocalization of PBF and Scythe/BAT3 in the nucleus might be an important factor for survival of osteosarcoma cells. (PMID:19018758)
- ZNF395 coordinate the transcriptional regulatory pathway with PPARG2, which may be necessary for the genesis of adipocytes. (PMID:23142027)
- Studies indicate that ZNF395 was strongly expressed in adipocytes, and suggest a role for ZNF395 as a modulator of adipogenesis. (PMID:23760207)
- IkBalpha kinase (IKK)-signaling is necessary to allow ZNF395 to activate transcription and simultaneously enhances its proteolytic degradation. (PMID:24086395)
- miR-525-3p promotes liver cancer cell migration and invasion by directly targeting ZNF395. (PMID:24599008)
- The transcriptional activation of CXCL10 and CXCL11 by ZNF395 was abolished after inhibition of IKK by BMS-345541, which increased the stability of ZNF395. ZNF395 encodes at least two motifs that mediate the enhanced degradation of ZNF395 in response to IKK activation. Thus, IKK is required for ZNF395-mediated activation of transcription and enhances its turn-over to keep the activity of ZNF395 low. (PMID:28316371)
- epigenomic profiling of clear cell renal cell carcinoma (ccRCC) establishes a compendium of somatically altered cis-regulatory elements, uncovering new potential targets including ZNF395. Loss of VHL, a ccRCC signature event, causes pervasive enhancer malfunction, with binding of enhancer-centric HIF2a and recruitment of histone acetyltransferase p300 at preexisting lineage-specific promoter-enhancer complexes (PMID:28893800)
- Downregulation of ZNF395 Drives Progression of Pancreatic Ductal Adenocarcinoma through Enhancement of Growth Potential. (PMID:33794543)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf395b | ENSDARG00000024195 |
| danio_rerio | znf395a | ENSDARG00000060113 |
| mus_musculus | Zfp395 | ENSMUSG00000034522 |
| rattus_norvegicus | Zfp395 | ENSRNOG00000014191 |
| drosophila_melanogaster | Glut4EF | FBGN0267336 |
Paralogs (2): SLC2A4RG (ENSG00000125520), ZNF704 (ENSG00000164684)
Protein
Protein identifiers
Zinc finger protein 395 — Q9H8N7 (reviewed: Q9H8N7)
Alternative names: HD-regulating factor 2, Huntington disease gene regulatory region-binding protein 2, Papillomavirus regulatory factor 1, Papillomavirus-binding factor
All UniProt accessions (7): Q9H8N7, A0A0C4DGD9, E5RFV4, E5RG59, E5RGF1, E5RH90, H0YAN1
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in papillomavirus genes transcription.
Subunit / interactions. Interacts with repression-mediating E2 binding site P2 of human papillomavirus type 8 (HPV8).
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Widely expressed.
RefSeq proteins (1): NP_061130* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR031940 | ZNF395/ZNF704_N | Domain |
| IPR052253 | CR1/CR2-DNA-binding_regulator | Family |
Pfam: PF15997
UniProt features (20 total): compositionally biased region 5, mutagenesis site 4, modified residue 3, region of interest 3, sequence conflict 2, chain 1, zinc finger region 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H8N7-F1 | 59.53 | 0.18 |
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 (3): 248, 376, 449
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 109 | no change in subcellular location; when associated with a-113. |
| 113 | no change in subcellular location; when associated with a-109. |
| 169 | no shuttle from the nucleus to the cytoplasm; when associated with a-172. |
| 172 | no shuttle from the nucleus to the cytoplasm; when associated with a-169. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 239 (showing top):
TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MITSIADES_RESPONSE_TO_APLIDIN_DN, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, MODULE_205, chr8p21, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, RIGGI_EWING_SARCOMA_PROGENITOR_DN, MODULE_301, AIYAR_COBRA1_TARGETS_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, HOOI_ST7_TARGETS_DN, P300_01
GO Biological Process (3): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription cis-regulatory region binding | 2 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
1766 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF395 | DYNC1I1 | O14576 | 547 |
| ZNF395 | GTF3A | Q92664 | 541 |
| ZNF395 | MINK1 | Q8N4C8 | 517 |
| ZNF395 | LCP1 | P13796 | 497 |
| ZNF395 | TUBB2A | Q13885 | 484 |
| ZNF395 | PTOV1 | Q86YD1 | 473 |
| ZNF395 | GAPDH | P00354 | 459 |
| ZNF395 | ZNF638 | Q14966 | 446 |
| ZNF395 | ZNF773 | Q6PK81 | 437 |
| ZNF395 | TUBB | P05218 | 437 |
| ZNF395 | PLS3 | P13797 | 436 |
| ZNF395 | S100A6 | P06703 | 433 |
| ZNF395 | REST | Q13127 | 428 |
| ZNF395 | ZNF671 | Q8TAW3 | 426 |
| ZNF395 | PML | P29590 | 425 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF395 | YWHAG | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | ZNF395 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAQ | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| ZNF395 | H3-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF395 | H2AC4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF395 | Nfkbia | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF395 | Ikbkb | psi-mi:“MI:0915”(physical association) | 0.400 |
| WASL | ZNF395 | psi-mi:“MI:0915”(physical association) | 0.370 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAE | DEPDC5 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAQ | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB3L2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (31): ZNF395 (Affinity Capture-MS), ZNF395 (Affinity Capture-MS), ZNF395 (Affinity Capture-MS), ZNF395 (Affinity Capture-Western), ZNF395 (Affinity Capture-Western), ZNF395 (Affinity Capture-MS), ZNF395 (Proximity Label-MS), ZNF395 (Proximity Label-MS), ZNF395 (Affinity Capture-MS), ZNF395 (Proximity Label-MS), ZNF395 (Proximity Label-MS), BTRC (Affinity Capture-MS), ZNF395 (Affinity Capture-MS), FBXW11 (Affinity Capture-MS), YWHAH (Affinity Capture-MS)
ESM2 similar proteins: A0JNG6, A2AKB4, A7YWL5, B0BN13, O35181, O43734, O70142, O70240, O88286, O88566, P0DPB3, P0DPB4, P56975, P70298, P86174, P97303, Q00IB7, Q1LY51, Q2M3C6, Q2T9L4, Q3TY60, Q498S6, Q4V7B1, Q568Z1, Q5HZN9, Q5JTD0, Q5SYB0, Q5U5E5, Q5VT97, Q69ZB8, Q6PG95, Q6UXB0, Q6ZU67, Q76N89, Q80YE4, Q86XD5, Q8BWU3, Q8BZB3, Q8CD60, Q8N365
Diamond homologs: Q1LY51, Q6DFC8, Q6ZNC4, Q9ERQ3, Q9H8N7, Q9NR83
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 17 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 304.5× | 8e-13 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 268.7× | 1e-12 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 268.7× | 1e-12 |
| Activation of BH3-only proteins | 6 | 198.6× | 7e-12 |
| RHO GTPases activate PKNs | 6 | 126.9× | 9e-11 |
| Intrinsic Pathway for Apoptosis | 6 | 117.1× | 1e-10 |
| SARS-CoV-1-host interactions | 6 | 70.3× | 3e-09 |
| Apoptosis | 6 | 67.2× | 3e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 122.1× | 5e-08 |
| intracellular protein localization | 6 | 41.9× | 2e-07 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — NSCLC.
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2016 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:28348826:CTTTC:C | acceptor_gain | 1.0000 |
| 8:28349227:ACC:A | acceptor_loss | 1.0000 |
| 8:28349234:C:CT | acceptor_gain | 1.0000 |
| 8:28351739:T:TA | donor_gain | 1.0000 |
| 8:28351807:CCTG:C | acceptor_gain | 1.0000 |
| 8:28352570:TA:T | donor_loss | 1.0000 |
| 8:28352571:A:C | donor_loss | 1.0000 |
| 8:28352571:AC:A | donor_gain | 1.0000 |
| 8:28352571:ACC:A | donor_gain | 1.0000 |
| 8:28352572:CC:C | donor_gain | 1.0000 |
| 8:28352572:CCC:C | donor_gain | 1.0000 |
| 8:28352669:GAGTT:G | acceptor_gain | 1.0000 |
| 8:28352670:AGTT:A | acceptor_gain | 1.0000 |
| 8:28352671:GTT:G | acceptor_gain | 1.0000 |
| 8:28352672:TT:T | acceptor_gain | 1.0000 |
| 8:28352672:TTCTA:T | acceptor_loss | 1.0000 |
| 8:28352674:C:CA | acceptor_loss | 1.0000 |
| 8:28352674:C:CC | acceptor_gain | 1.0000 |
| 8:28356787:C:CT | acceptor_gain | 1.0000 |
| 8:28359591:CCT:C | donor_gain | 1.0000 |
| 8:28359820:TAAAC:T | acceptor_gain | 1.0000 |
| 8:28359821:AAAC:A | acceptor_gain | 1.0000 |
| 8:28359822:AAC:A | acceptor_gain | 1.0000 |
| 8:28359823:AC:A | acceptor_gain | 1.0000 |
| 8:28359824:CC:C | acceptor_gain | 1.0000 |
| 8:28359824:CCT:C | acceptor_loss | 1.0000 |
| 8:28359825:C:CA | acceptor_loss | 1.0000 |
| 8:28359825:C:CC | acceptor_gain | 1.0000 |
| 8:28360946:T:TA | donor_gain | 1.0000 |
| 8:28348827:TTTC:T | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000097506 (8:28381360 T>C), RS1000172920 (8:28359133 A>C), RS1000261658 (8:28347775 A>G), RS1000273344 (8:28365356 C>T), RS1000283474 (8:28352916 T>C), RS1000405495 (8:28381674 T>C), RS1000460609 (8:28383453 C>A), RS1000466018 (8:28377232 T>C), RS1000536592 (8:28385055 C>G), RS1000561976 (8:28376945 T>C), RS1000603211 (8:28383728 C>A), RS1000693725 (8:28350850 T>G), RS1000723310 (8:28365141 C>T), RS1000748903 (8:28371622 T>C), RS1000836005 (8:28359319 G>A,T)
Disease associations
OMIM: gene MIM:609494 | 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
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation, increases expression | 5 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases expression | 4 |
| bisphenol A | affects expression, affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | decreases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| perfluorobutanesulfonic acid | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Coumestrol | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HA02 | K562 eGFP-ZNF395 | Cancer cell line | Female |
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.