ZNF326
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Also known as Zfp326ZAN75FLJ20403ZIRD
Summary
ZNF326 (zinc finger protein 326, HGNC:14104) is a protein-coding gene on chromosome 1p22.2, encoding DBIRD complex subunit ZNF326 (Q5BKZ1). Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongati….
Enables RNA polymerase II complex binding activity. Involved in regulation of DNA-templated transcription elongation and regulation of RNA splicing. Located in nucleoplasm. Part of DBIRD complex.
Source: NCBI Gene 284695 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 83 total
- MANE Select transcript:
NM_182976
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14104 |
| Approved symbol | ZNF326 |
| Name | zinc finger protein 326 |
| Location | 1p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Zfp326, ZAN75, FLJ20403, ZIRD |
| Ensembl gene | ENSG00000162664 |
| Ensembl biotype | protein_coding |
| OMIM | 614601 |
| Entrez | 284695 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 nonsense_mediated_decay
ENST00000340281, ENST00000361911, ENST00000370447, ENST00000394583, ENST00000902215, ENST00000902216, ENST00000902217, ENST00000918480, ENST00000918481, ENST00000971818
RefSeq mRNA: 4 — MANE Select: NM_182976
NM_001320185, NM_181781, NM_182975, NM_182976
CCDS: CCDS727, CCDS728, CCDS81351
Canonical transcript exons
ENST00000340281 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001452743 | 90027354 | 90035533 |
| ENSE00001631587 | 89995110 | 89995273 |
| ENSE00001667126 | 90005133 | 90005244 |
| ENSE00001673235 | 90007345 | 90007750 |
| ENSE00001700064 | 90005003 | 90005038 |
| ENSE00003458730 | 90017317 | 90017464 |
| ENSE00003488602 | 90020792 | 90020922 |
| ENSE00003542153 | 90018685 | 90018784 |
| ENSE00003543739 | 90010088 | 90010286 |
| ENSE00003566160 | 90022250 | 90022345 |
| ENSE00003658791 | 89998110 | 89998154 |
| ENSE00003662522 | 90013126 | 90013237 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 96.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.1250 / max 651.2898, expressed in 1815 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3991 | 33.1250 | 1815 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 96.38 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.53 | gold quality |
| spinal cord | UBERON:0002240 | 94.99 | gold quality |
| medial globus pallidus | UBERON:0002477 | 92.55 | gold quality |
| ventricular zone | UBERON:0003053 | 92.19 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 91.94 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.73 | gold quality |
| globus pallidus | UBERON:0001875 | 91.16 | gold quality |
| cortical plate | UBERON:0005343 | 91.11 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.09 | gold quality |
| substantia nigra | UBERON:0002038 | 90.89 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 90.81 | gold quality |
| body of pancreas | UBERON:0001150 | 90.53 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 90.49 | gold quality |
| midbrain | UBERON:0001891 | 90.28 | gold quality |
| corpus callosum | UBERON:0002336 | 90.14 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.97 | gold quality |
| amygdala | UBERON:0001876 | 89.82 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 89.50 | gold quality |
| endometrium | UBERON:0001295 | 89.43 | gold quality |
| left ovary | UBERON:0002119 | 89.15 | gold quality |
| hypothalamus | UBERON:0001898 | 89.13 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.07 | gold quality |
| rectum | UBERON:0001052 | 89.00 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.58 | gold quality |
| tendon | UBERON:0000043 | 88.41 | gold quality |
| ovary | UBERON:0000992 | 88.32 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.28 | gold quality |
| thymus | UBERON:0002370 | 88.19 | gold quality |
| right ovary | UBERON:0002118 | 88.08 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11121 | yes | 889.21 |
| E-GEOD-137537 | yes | 17.59 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
267 targeting ZNF326, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
Literature-anchored findings (GeneRIF, showing 8)
- data indicate that the DBIRD complex (consisting of DBC1 and ZNF326) acts at the interface between mRNP particles and RNAPII, integrating transcript elongation with the regulation of alternative splicing (PMID:22446626)
- involvement of the Zfp326 and ZNF326 genes in antidepressant treatment response (PMID:22666313)
- Data indicate that ZNF326 is an interaction partner and substrate of the PRMT5/WDR77 complex. (PMID:28977470)
- Data provide evidence that the high nuclear expression of ZNF326 in breast cancer was closely related to advanced pTNM staging, positive lymph node metastasis, and poor prognosis in patients with breast cancer. ZNF326 promotes proliferation, invasiveness, and xenograft formation by upregulating MMP7, EMT, and cell cycle-related factors by interacting with DBC1. (PMID:30175866)
- Studied role of zinc finger protein 326 (ZNF326) in promotion of excision repair cross-complementation group 1 (ERCC1) expression in non-small cell lung cancer (NSCLC) cells. (PMID:30401956)
- High ZNF326 expression is associated with glioma. (PMID:30691485)
- Transcription Factor ZNF326 Upregulates the Expression of ERCC1 and HDAC7 and its Clinicopathologic Significance in Glioma. (PMID:31930344)
- MicroRNA-136-5p regulates gemcitabine resistance in pancreatic cancer via down-regulating ZNF32. (PMID:33155203)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf326 | ENSDARG00000098348 |
| mus_musculus | Zfp326 | ENSMUSG00000029290 |
| rattus_norvegicus | Zfp326 | ENSRNOG00000047761 |
Paralogs (2): AKAP8L (ENSG00000011243), AKAP8 (ENSG00000105127)
Protein
Protein identifiers
DBIRD complex subunit ZNF326 — Q5BKZ1 (reviewed: Q5BKZ1)
Alternative names: Zinc finger protein 326, Zinc finger protein interacting with mRNPs and DBC1
All UniProt accessions (3): A0A0A0MRN4, E2QRN4, Q5BKZ1
UniProt curated annotations — full annotation on UniProt →
Function. Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. May play a role in neuronal differentiation and is able to bind DNA and activate expression in vitro.
Subunit / interactions. Component of the DBIRD complex. Interacts with CCAR2; the interaction is direct.
Subcellular location. Nucleus matrix.
Similarity. Belongs to the AKAP95 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5BKZ1-1 | 1 | yes |
| Q5BKZ1-2 | 2 | |
| Q5BKZ1-3 | 3 |
RefSeq proteins (4): NP_001307114, NP_861446, NP_892020, NP_892021* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007071 | AKAP95 | Family |
| IPR034736 | ZF_C2H2_AKAP95 | Domain |
Pfam: PF04988
UniProt features (42 total): modified residue 19, cross-link 8, compositionally biased region 4, region of interest 4, zinc finger region 2, splice variant 2, chain 1, sequence conflict 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5BKZ1-F1 | 54.04 | 0.08 |
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 (27): 48, 56, 63, 69, 81, 82, 91, 106, 114, 118, 121, 137, 173, 212, 235, 247, 249, 251, 270, 140 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 181 (showing top):
CAGCTG_AP4_Q5, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RNA_SPLICING, GATA1_02, chr1p22, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOBP_REGULATION_OF_RNA_SPLICING, NUYTTEN_EZH2_TARGETS_DN, E2A_Q2, CCAWNWWNNNGGC_UNKNOWN, AAGWWRNYGGC_UNKNOWN, NUYTTEN_NIPP1_TARGETS_DN, GOMF_RNA_POLYMERASE_BINDING, GOMF_RNA_POLYMERASE_CORE_ENZYME_BINDING, GOMF_BASAL_TRANSCRIPTION_MACHINERY_BINDING
GO Biological Process (4): mRNA processing (GO:0006397), RNA splicing (GO:0008380), regulation of DNA-templated transcription elongation (GO:0032784), regulation of RNA splicing (GO:0043484)
GO Molecular Function (6): RNA polymerase II complex binding (GO:0000993), DNA binding (GO:0003677), RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear matrix (GO:0016363), DBIRD complex (GO:0044609)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| nucleic acid binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| mRNA metabolic process | 1 |
| DNA-templated transcription elongation | 1 |
| regulation of DNA-templated transcription | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| RNA polymerase core enzyme binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular protein-containing complex | 1 |
Protein interactions and networks
STRING
1190 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF326 | CCAR2 | Q8N163 | 808 |
| ZNF326 | ALDH18A1 | P54886 | 525 |
| ZNF326 | MATR3 | P43243 | 511 |
| ZNF326 | GPANK1 | O95872 | 495 |
| ZNF326 | TARS2 | Q9BW92 | 476 |
| ZNF326 | HNRNPA1 | P09651 | 475 |
| ZNF326 | CPNE5 | Q9HCH3 | 474 |
| ZNF326 | GANAB | Q14697 | 474 |
| ZNF326 | WDR77 | Q9BQA1 | 454 |
| ZNF326 | ZMYM3 | Q14202 | 442 |
| ZNF326 | KHSRP | Q92945 | 442 |
| ZNF326 | LRRFIP1 | Q32MZ4 | 438 |
| ZNF326 | TUBA1B | P04687 | 404 |
| ZNF326 | H1-1 | Q02539 | 398 |
| ZNF326 | ABCC12 | Q96J65 | 386 |
IntAct
196 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIK3CA | PIK3R2 | psi-mi:“MI:0914”(association) | 0.900 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF326 | HNRNPA1 | psi-mi:“MI:0914”(association) | 0.600 |
| ZNF326 | BRINP1 | psi-mi:“MI:0914”(association) | 0.580 |
| ZNF326 | BRINP1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| BRINP1 | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.580 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| KHDRBS3 | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VMAC | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF326 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| GYS1 | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GEMIN4 | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPTA1 | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPNA5 | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXP3 | FOXP2 | psi-mi:“MI:0914”(association) | 0.530 |
| BCOR | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| PCGF1 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (280): ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Affinity Capture-MS), ZNF326 (Proximity Label-MS), ZNF326 (Proximity Label-MS), ZNF326 (Proximity Label-MS), ZNF326 (Proximity Label-MS), ZNF326 (Proximity Label-MS), ZNF326 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IZ84, A2CEZ5, A2RV70, D3YXK2, F1MJM0, O15047, O43823, O60293, O88291, O88453, P41073, P43243, P43244, P61129, P61406, P78332, P97868, Q08D57, Q14151, Q15424, Q1LY77, Q28F29, Q2HJG4, Q3TLH4, Q498L2, Q5BKZ1, Q5F3P8, Q5R452, Q5RAK6, Q5RCA4, Q5U236, Q5VK71, Q5ZJ02, Q63014, Q66HC1, Q66J90, Q7YZA2, Q7Z6E9, Q80YR5, Q86US8
Diamond homologs: A2CEZ5, A2RV70, F1MJM0, O43823, O88291, Q28F29, Q5BKZ1, Q5RCA4, Q5VK71, Q5ZJ02, Q63014, Q9DBR0, Q9R0L7, Q9ULX6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 208 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 |
|---|---|---|---|
| mRNA Polyadenylation | 26 | 16.1× | 1e-21 |
| mRNA Splicing | 18 | 13.9× | 7e-14 |
| RNA Polymerase II Transcription Termination | 9 | 13.9× | 1e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 24 | 13.9× | 1e-18 |
| Transport of Mature Transcript to Cytoplasm | 5 | 13.4× | 2e-03 |
| mRNA Splicing - Major Pathway | 30 | 11.5× | 3e-21 |
| mRNA 3’-end processing | 8 | 11.1× | 4e-05 |
| Dengue Virus-Host Interactions | 25 | 8.0× | 7e-14 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of mRNA splicing, via spliceosome | 5 | 24.9× | 2e-04 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 21.5× | 4e-04 |
| alternative mRNA splicing, via spliceosome | 5 | 18.9× | 5e-04 |
| U2-type prespliceosome assembly | 5 | 17.5× | 7e-04 |
| spliceosomal snRNP assembly | 5 | 16.3× | 9e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 10 | 13.7× | 8e-07 |
| mRNA splicing, via spliceosome | 24 | 12.3× | 2e-16 |
| negative regulation of translation | 10 | 11.0× | 5e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1894 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:89995269:GGACG:G | donor_gain | 1.0000 |
| 1:89995270:GACG:G | donor_gain | 1.0000 |
| 1:89995270:GACGG:G | donor_gain | 1.0000 |
| 1:89995272:CGG:C | donor_loss | 1.0000 |
| 1:89995273:GGTAA:G | donor_loss | 1.0000 |
| 1:89995274:G:GG | donor_gain | 1.0000 |
| 1:89995274:GT:G | donor_loss | 1.0000 |
| 1:89998095:A:G | acceptor_gain | 1.0000 |
| 1:89998153:TG:T | donor_gain | 1.0000 |
| 1:89998153:TGGT:T | donor_loss | 1.0000 |
| 1:89998154:GG:G | donor_gain | 1.0000 |
| 1:89998154:GGT:G | donor_loss | 1.0000 |
| 1:89998155:G:GG | donor_gain | 1.0000 |
| 1:89998156:T:A | donor_loss | 1.0000 |
| 1:90004997:TTTTA:T | acceptor_loss | 1.0000 |
| 1:90004998:TTTAG:T | acceptor_loss | 1.0000 |
| 1:90004999:TTAG:T | acceptor_loss | 1.0000 |
| 1:90005000:TAGGA:T | acceptor_loss | 1.0000 |
| 1:90005001:A:AG | acceptor_gain | 1.0000 |
| 1:90005002:G:GG | acceptor_gain | 1.0000 |
| 1:90005002:GGA:G | acceptor_gain | 1.0000 |
| 1:90007327:ACTGT:A | acceptor_gain | 1.0000 |
| 1:90007334:A:AG | acceptor_gain | 1.0000 |
| 1:90007335:A:G | acceptor_gain | 1.0000 |
| 1:90007342:CAG:C | acceptor_loss | 1.0000 |
| 1:90007344:G:GT | acceptor_loss | 1.0000 |
| 1:90007746:GAGGA:G | donor_gain | 1.0000 |
| 1:90007747:AGGA:A | donor_gain | 1.0000 |
| 1:90007748:GGA:G | donor_gain | 1.0000 |
| 1:90007748:GGAG:G | donor_gain | 1.0000 |
AlphaMissense
3869 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:90013199:A:C | R296S | 1.000 |
| 1:90013199:A:T | R296S | 1.000 |
| 1:90013202:A:C | R297S | 1.000 |
| 1:90013202:A:T | R297S | 1.000 |
| 1:90017330:T:A | C314S | 1.000 |
| 1:90017330:T:C | C314R | 1.000 |
| 1:90017331:G:A | C314Y | 1.000 |
| 1:90017331:G:C | C314S | 1.000 |
| 1:90017331:G:T | C314F | 1.000 |
| 1:90017332:T:G | C314W | 1.000 |
| 1:90017339:T:A | C317S | 1.000 |
| 1:90017339:T:C | C317R | 1.000 |
| 1:90017340:G:A | C317Y | 1.000 |
| 1:90017340:G:C | C317S | 1.000 |
| 1:90017340:G:T | C317F | 1.000 |
| 1:90017341:T:G | C317W | 1.000 |
| 1:90017378:C:A | H330N | 1.000 |
| 1:90017378:C:G | H330D | 1.000 |
| 1:90017380:T:A | H330Q | 1.000 |
| 1:90017380:T:G | H330Q | 1.000 |
| 1:90017382:T:C | L331P | 1.000 |
| 1:90017396:C:A | H336N | 1.000 |
| 1:90017396:C:G | H336D | 1.000 |
| 1:90017398:T:A | H336Q | 1.000 |
| 1:90017398:T:G | H336Q | 1.000 |
| 1:90017418:T:A | I343K | 1.000 |
| 1:90017418:T:G | I343R | 1.000 |
| 1:90017456:T:C | F356L | 1.000 |
| 1:90017457:T:C | F356S | 1.000 |
| 1:90017458:T:A | F356L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000049871 (1:90022973 G>A), RS1000101916 (1:90022666 C>T), RS1000315164 (1:90025760 A>T), RS1000354824 (1:90012519 G>A), RS1000360162 (1:89993174 A>T), RS1000407378 (1:90010555 AATAG>A), RS1000571175 (1:89999389 A>G), RS1000647286 (1:90033875 G>A), RS1000657613 (1:90030685 C>T), RS1000699664 (1:90033628 A>G), RS1000726549 (1:90006159 G>C), RS1000751322 (1:90002743 C>G), RS1000798687 (1:90006503 G>A), RS1000799458 (1:90008265 G>A), RS1000942660 (1:90005885 C>G,T)
Disease associations
OMIM: gene MIM:614601 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000615_1 | Brain structure (hippocampal volume) | 2.000000e-06 |
| GCST003434_11 | Obsessive-compulsive symptoms | 8.000000e-06 |
| GCST006041_41 | Major depressive disorder | 3.000000e-06 |
| GCST006210_1 | Thiopurine-induced digestive symptoms in inflammatory bowel disease | 7.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005035 | hippocampal volume |
| EFO:0007802 | obsessive-compulsive symptom measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| sodium arsenite | increases expression, decreases expression, increases abundance | 2 |
| Arsenic | increases abundance, increases expression, affects methylation | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | 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_B2LU | Abcam HeLa ZNF326 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): digestive system disorder