ZNF34
gene geneOn this page
Also known as KOX32
Summary
ZNF34 (zinc finger protein 34, HGNC:13098) is a protein-coding gene on chromosome 8q24.3, encoding Zinc finger protein 34 (Q8IZ26). May be involved in transcriptional regulation.
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 cytosol and nucleoplasm.
Source: NCBI Gene 80778 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 71 total
- MANE Select transcript:
NM_001286769
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13098 |
| Approved symbol | ZNF34 |
| Name | zinc finger protein 34 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KOX32 |
| Ensembl gene | ENSG00000196378 |
| Ensembl biotype | protein_coding |
| OMIM | 194526 |
| Entrez | 80778 |
Gene structure
Transcript identifiers
Ensembl transcripts: 39 — 38 protein_coding, 1 retained_intron
ENST00000343459, ENST00000429371, ENST00000527740, ENST00000534337, ENST00000534445, ENST00000714360, ENST00000714361, ENST00000714362, ENST00000714363, ENST00000714364, ENST00000714365, ENST00000714366, ENST00000714367, ENST00000714368, ENST00000714369, ENST00000870740, ENST00000870741, ENST00000870742, ENST00000870743, ENST00000870744, ENST00000870745, ENST00000870746, ENST00000870747, ENST00000924812, ENST00000924813, ENST00000924814, ENST00000924815, ENST00000924816, ENST00000924817, ENST00000924818, ENST00000924819, ENST00000965277, ENST00000965278, ENST00000965279, ENST00000965280, ENST00000965281, ENST00000965282, ENST00000965283, ENST00000965284
RefSeq mRNA: 6 — MANE Select: NM_001286769
NM_001286769, NM_001286770, NM_001378027, NM_001378028, NM_001378029, NM_030580
CCDS: CCDS69562
Canonical transcript exons
ENST00000429371 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001372181 | 144777458 | 144777577 |
| ENSE00001648939 | 144787279 | 144787317 |
| ENSE00002395826 | 144778038 | 144778164 |
| ENSE00002733376 | 144780228 | 144780280 |
| ENSE00003596553 | 144778439 | 144778525 |
| ENSE00003902455 | 144772224 | 144774605 |
Expression profiles
Bgee: expression breadth ubiquitous, 203 present calls, max score 84.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.7080 / max 45.4777, expressed in 1282 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95714 | 2.6839 | 1276 |
| 95710 | 0.0241 | 5 |
Top tissues by expression
274 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibial artery | UBERON:0007610 | 84.91 | gold quality |
| popliteal artery | UBERON:0002250 | 84.90 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.31 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.24 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.19 | gold quality |
| cerebellum | UBERON:0002037 | 82.88 | gold quality |
| cortical plate | UBERON:0005343 | 82.49 | gold quality |
| aorta | UBERON:0000947 | 82.28 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.01 | gold quality |
| ganglionic eminence | UBERON:0004023 | 81.89 | gold quality |
| mucosa of stomach | UBERON:0001199 | 80.39 | gold quality |
| tibial nerve | UBERON:0001323 | 80.13 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 80.01 | gold quality |
| endocervix | UBERON:0000458 | 79.94 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 79.94 | gold quality |
| left uterine tube | UBERON:0001303 | 79.79 | gold quality |
| left ovary | UBERON:0002119 | 79.76 | gold quality |
| right coronary artery | UBERON:0001625 | 79.69 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.59 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 79.57 | gold quality |
| body of uterus | UBERON:0009853 | 79.40 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 79.40 | gold quality |
| lower esophagus | UBERON:0013473 | 79.34 | gold quality |
| left coronary artery | UBERON:0001626 | 79.31 | gold quality |
| ventricular zone | UBERON:0003053 | 79.27 | gold quality |
| thoracic aorta | UBERON:0001515 | 79.18 | gold quality |
| ascending aorta | UBERON:0001496 | 79.08 | gold quality |
| right ovary | UBERON:0002118 | 78.71 | gold quality |
| adenohypophysis | UBERON:0002196 | 78.54 | gold quality |
| ectocervix | UBERON:0012249 | 78.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting ZNF34, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
Literature-anchored findings (GeneRIF, showing 1)
- genes encoding transcription factors expressed in the brain might be an important group of major depressive disorder candidate genes. (PMID:26823146)
Cross-species orthologs
39 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp944 | ENSMUSG00000033972 |
| mus_musculus | Gm21411 | ENSMUSG00000045699 |
| mus_musculus | Zfp943 | ENSMUSG00000053347 |
| mus_musculus | Zfp981 | ENSMUSG00000056300 |
| mus_musculus | Zfp980 | ENSMUSG00000058186 |
| mus_musculus | Zfp945 | ENSMUSG00000059142 |
| mus_musculus | Zfp534 | ENSMUSG00000062518 |
| mus_musculus | Zfp993 | ENSMUSG00000063245 |
| mus_musculus | Zfp947 | ENSMUSG00000063383 |
| mus_musculus | Zfp985 | ENSMUSG00000065999 |
| mus_musculus | Zfp979 | ENSMUSG00000066000 |
| mus_musculus | Zfp987 | ENSMUSG00000066009 |
| mus_musculus | Zfp991 | ENSMUSG00000067916 |
| mus_musculus | Rex2 | ENSMUSG00000067919 |
| mus_musculus | Zfp760 | ENSMUSG00000067928 |
| mus_musculus | Zfp820 | ENSMUSG00000069743 |
| mus_musculus | Zfp992 | ENSMUSG00000070605 |
| mus_musculus | Zfp946 | ENSMUSG00000071266 |
| mus_musculus | Zfp942 | ENSMUSG00000071267 |
| mus_musculus | Zfp984 | ENSMUSG00000078495 |
| mus_musculus | Zfp978 | ENSMUSG00000078497 |
| mus_musculus | Zfp988 | ENSMUSG00000078498 |
| mus_musculus | Zfp990 | ENSMUSG00000078503 |
| mus_musculus | Zfp995 | ENSMUSG00000078546 |
| mus_musculus | Zfp989 | ENSMUSG00000086147 |
| mus_musculus | Zfp994 | ENSMUSG00000096433 |
| mus_musculus | Gm7072 | ENSMUSG00000117284 |
| rattus_norvegicus | Zfp943 | ENSRNOG00000026569 |
| rattus_norvegicus | Zfp945l1 | ENSRNOG00000028767 |
| rattus_norvegicus | Zfp534l2 | ENSRNOG00000033792 |
| rattus_norvegicus | AABR07001923.1 | ENSRNOG00000047884 |
| rattus_norvegicus | Zfp600 | ENSRNOG00000051867 |
| rattus_norvegicus | Rex2l4 | ENSRNOG00000059160 |
| rattus_norvegicus | Zfp945 | ENSRNOG00000061533 |
| rattus_norvegicus | Rex2l2 | ENSRNOG00000062461 |
| rattus_norvegicus | Zfp534l1 | ENSRNOG00000063088 |
| rattus_norvegicus | ENSRNOG00000065823 | |
| rattus_norvegicus | ENSRNOG00000066546 | |
| rattus_norvegicus | ENSRNOG00000068796 |
Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)
Protein
Protein identifiers
Zinc finger protein 34 — Q8IZ26 (reviewed: Q8IZ26)
Alternative names: Zinc finger protein KOX32
All UniProt accessions (3): A0A0C4DG42, Q8IZ26, E9PNZ6
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 (6): NP_001273698, NP_001273699, NP_001364956, NP_001364957, NP_001364958, NP_085057 (=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 |
| IPR050589 | Ikaros_C2H2-ZF | Family |
Pfam: PF00096, PF01352
UniProt features (16 total): zinc finger region 12, chain 1, domain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IZ26-F1 | 70.46 | 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 (1): 113
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 79 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, PARENT_MTOR_SIGNALING_UP, KIM_WT1_TARGETS_DN, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MARTENS_TRETINOIN_RESPONSE_UP, chr8q24, MTOR_UP.N4.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, EBNA1BP2_TARGET_GENES, GUCY1B1_TARGET_GENES, SETD7_TARGET_GENES, SFMBT1_TARGET_GENES, SNRNP70_TARGET_GENES
GO Biological Process (2): 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 (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
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 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 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 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
476 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF34 | NKPD1 | Q17RQ9 | 584 |
| ZNF34 | ARMH2 | H3BNL8 | 570 |
| ZNF34 | MROH1 | Q8NDA8 | 474 |
| ZNF34 | ZMYND12 | Q9H0C1 | 449 |
| ZNF34 | TMEM276 | P0DTL5 | 446 |
| ZNF34 | MYC | P01106 | 436 |
| ZNF34 | COMMD5 | Q9GZQ3 | 393 |
| ZNF34 | CCDC150 | Q8NCX0 | 380 |
| ZNF34 | ZBTB21 | Q9ULJ3 | 369 |
| ZNF34 | MAF1 | Q9H063 | 353 |
| ZNF34 | CCDC30 | Q5VVM6 | 352 |
| ZNF34 | LRRC24 | Q50LG9 | 351 |
| ZNF34 | TTK | P33981 | 350 |
| ZNF34 | KAT14 | Q9H8E8 | 349 |
| ZNF34 | PHF8 | Q9UPP1 | 346 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF34 | VAC14 | psi-mi:“MI:0915”(physical association) | 0.670 |
| VAC14 | ZNF34 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KRTAP10-5 | ZNF34 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| PB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ZNF34 | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF34 | LRP4 | psi-mi:“MI:0914”(association) | 0.350 |
| FMR1 | ZNF34 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RSPH1 | ZNF34 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TIAM1 | ZNF34 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (53): ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), KRTAP10-5 (Two-hybrid), ZNF34 (Affinity Capture-MS), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid), ZNF34 (Two-hybrid)
ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4
Diamond homologs: A2A761, A2VDP4, A3KN32, A6QLU5, A6QPT6, A7MBI1, A8MT65, B4DU55, E9PYI1, O60765, O95780, P15622, P17014, P17032, P17098, P21506, P51508, P51814, P52736, P52738, P52742, Q02975, Q06730, Q06732, Q0VCB0, Q14587, Q16587, Q2KI58, Q2M3W8, Q3V080, Q49AA0, Q4R6C2, Q4V8A8, Q571J5, Q5HYK9, Q5JUW0, Q5JVG2, Q5MCW4, Q5MYW4, Q5R4K8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1004 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:144774602:AGAG:A | acceptor_gain | 1.0000 |
| 8:144774603:GAG:G | acceptor_gain | 1.0000 |
| 8:144774603:GAGC:G | acceptor_loss | 1.0000 |
| 8:144774604:AGCT:A | acceptor_loss | 1.0000 |
| 8:144774605:GCTGA:G | acceptor_loss | 1.0000 |
| 8:144774606:C:CC | acceptor_gain | 1.0000 |
| 8:144774606:CTGAA:C | acceptor_loss | 1.0000 |
| 8:144777455:CA:C | donor_loss | 1.0000 |
| 8:144777457:C:A | donor_loss | 1.0000 |
| 8:144777575:CTC:C | acceptor_gain | 1.0000 |
| 8:144777578:C:CC | acceptor_gain | 1.0000 |
| 8:144777578:CTGGG:C | acceptor_loss | 1.0000 |
| 8:144778032:CCTTA:C | donor_loss | 1.0000 |
| 8:144778033:CTTA:C | donor_loss | 1.0000 |
| 8:144778034:TTACC:T | donor_loss | 1.0000 |
| 8:144778035:TACCC:T | donor_loss | 1.0000 |
| 8:144778036:A:AC | donor_gain | 1.0000 |
| 8:144778036:AC:A | donor_gain | 1.0000 |
| 8:144778037:C:A | donor_loss | 1.0000 |
| 8:144778037:C:CC | donor_gain | 1.0000 |
| 8:144778037:CC:C | donor_gain | 1.0000 |
| 8:144778037:CCCA:C | donor_gain | 1.0000 |
| 8:144780281:C:CC | acceptor_gain | 1.0000 |
| 8:144774601:AAGAG:A | acceptor_gain | 0.9900 |
| 8:144774604:AG:A | acceptor_gain | 0.9900 |
| 8:144777573:TACTC:T | acceptor_gain | 0.9900 |
| 8:144778036:ACC:A | donor_gain | 0.9900 |
| 8:144778037:CCC:C | donor_gain | 0.9900 |
| 8:144778037:CCCAG:C | donor_gain | 0.9900 |
| 8:144778077:C:A | donor_gain | 0.9900 |
AlphaMissense
3590 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:144773665:G:C | F428L | 0.999 |
| 8:144773665:G:T | F428L | 0.999 |
| 8:144773667:A:G | F428L | 0.999 |
| 8:144773749:A:C | F400L | 0.999 |
| 8:144773749:A:T | F400L | 0.999 |
| 8:144773751:A:G | F400L | 0.999 |
| 8:144773801:C:G | R383P | 0.999 |
| 8:144773833:G:C | F372L | 0.999 |
| 8:144773833:G:T | F372L | 0.999 |
| 8:144773835:A:G | F372L | 0.999 |
| 8:144773413:G:C | F512L | 0.998 |
| 8:144773413:G:T | F512L | 0.998 |
| 8:144773415:A:G | F512L | 0.998 |
| 8:144773497:G:C | F484L | 0.998 |
| 8:144773497:G:T | F484L | 0.998 |
| 8:144773499:A:G | F484L | 0.998 |
| 8:144773581:G:C | F456L | 0.998 |
| 8:144773581:G:T | F456L | 0.998 |
| 8:144773583:A:G | F456L | 0.998 |
| 8:144773750:A:G | F400S | 0.998 |
| 8:144773900:A:G | L350P | 0.998 |
| 8:144773917:A:C | F344L | 0.998 |
| 8:144773917:A:T | F344L | 0.998 |
| 8:144773919:A:G | F344L | 0.998 |
| 8:144774001:G:C | F316L | 0.998 |
| 8:144774001:G:T | F316L | 0.998 |
| 8:144774003:A:G | F316L | 0.998 |
| 8:144773329:G:C | F540L | 0.997 |
| 8:144773329:G:T | F540L | 0.997 |
| 8:144773331:A:G | F540L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000245254 (8:144773198 G>A,C), RS1000484896 (8:144787528 G>A), RS1000587579 (8:144783106 C>A,T), RS1000747224 (8:144781088 T>C), RS1000769741 (8:144777896 C>G,T), RS1000807965 (8:144781386 A>C), RS1000847271 (8:144771799 T>C), RS1001178211 (8:144781258 T>C), RS1001260740 (8:144785532 C>T), RS1001304599 (8:144780344 T>G), RS1001328183 (8:144776509 A>C), RS1001441281 (8:144780669 A>G), RS1001649620 (8:144781584 C>T), RS1001692038 (8:144785341 G>A), RS1002045216 (8:144786550 C>T)
Disease associations
OMIM: gene MIM:194526 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006867_73 | Type 2 diabetes | 2.000000e-08 |
| GCST006879_12 | Blood metabolite levels | 4.000000e-10 |
| GCST006879_13 | Blood metabolite levels | 2.000000e-09 |
| GCST006879_14 | Blood metabolite levels | 2.000000e-11 |
| GCST006879_5 | Blood metabolite levels | 2.000000e-12 |
| GCST007005_4 | Logical memory (immediate recall) in normal cognition | 2.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, affects cotreatment, increases abundance, increases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| cupric oxide | increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dieldrin | increases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Vanadates | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Particulate Matter | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XW34 | HEK293 eGFP-ZNF34 | Transformed 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.