ZMIZ2
gene geneOn this page
Also known as KIAA1886hZIMP7ZIMP7DKFZp761I2123NET27
Summary
ZMIZ2 (zinc finger MIZ-type containing 2, HGNC:22229) is a protein-coding gene on chromosome 7p13, encoding Zinc finger MIZ domain-containing protein 2 (Q8NF64). Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors.
ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).
Source: NCBI Gene 83637 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 171 total
- MANE Select transcript:
NM_031449
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22229 |
| Approved symbol | ZMIZ2 |
| Name | zinc finger MIZ-type containing 2 |
| Location | 7p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27 |
| Ensembl gene | ENSG00000122515 |
| Ensembl biotype | protein_coding |
| OMIM | 611196 |
| Entrez | 83637 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 24 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000265346, ENST00000309315, ENST00000413916, ENST00000416856, ENST00000433667, ENST00000441627, ENST00000457123, ENST00000463056, ENST00000463931, ENST00000478045, ENST00000480964, ENST00000482322, ENST00000492001, ENST00000492558, ENST00000884706, ENST00000884707, ENST00000884708, ENST00000884709, ENST00000884710, ENST00000884711, ENST00000884712, ENST00000884713, ENST00000884714, ENST00000931484, ENST00000931485, ENST00000931486, ENST00000931487, ENST00000931488, ENST00000931489, ENST00000931490, ENST00000931491, ENST00000944840
RefSeq mRNA: 3 — MANE Select: NM_031449
NM_001300959, NM_031449, NM_174929
CCDS: CCDS43576, CCDS43577, CCDS75591
Canonical transcript exons
ENST00000309315 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001191840 | 44760151 | 44760228 |
| ENSE00001218270 | 44756947 | 44757149 |
| ENSE00001535804 | 44748847 | 44748991 |
| ENSE00001601264 | 44756425 | 44756539 |
| ENSE00001710623 | 44757848 | 44758108 |
| ENSE00001727240 | 44760425 | 44760593 |
| ENSE00001781241 | 44759281 | 44759460 |
| ENSE00003459522 | 44766421 | 44766663 |
| ENSE00003477623 | 44756188 | 44756299 |
| ENSE00003503361 | 44765335 | 44765579 |
| ENSE00003505786 | 44764941 | 44765009 |
| ENSE00003520830 | 44762881 | 44762986 |
| ENSE00003536374 | 44766164 | 44766333 |
| ENSE00003546101 | 44764419 | 44764486 |
| ENSE00003553598 | 44761695 | 44761905 |
| ENSE00003577983 | 44757378 | 44757561 |
| ENSE00003615583 | 44763256 | 44763413 |
| ENSE00003694198 | 44761449 | 44761593 |
| ENSE00003753915 | 44767516 | 44769881 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 98.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.4822 / max 204.4060, expressed in 1821 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78437 | 31.9241 | 1815 |
| 78434 | 9.2851 | 1774 |
| 78435 | 1.7450 | 866 |
| 78438 | 0.7868 | 492 |
| 78442 | 0.4564 | 257 |
| 78436 | 0.4428 | 196 |
| 78441 | 0.4384 | 230 |
| 204427 | 0.2954 | 115 |
| 78440 | 0.1081 | 25 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.54 | gold quality |
| right uterine tube | UBERON:0001302 | 98.51 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.85 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.63 | gold quality |
| thyroid gland | UBERON:0002046 | 97.43 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.29 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 97.29 | gold quality |
| pituitary gland | UBERON:0000007 | 96.90 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.86 | gold quality |
| body of pancreas | UBERON:0001150 | 96.84 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.66 | gold quality |
| granulocyte | CL:0000094 | 96.62 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.61 | gold quality |
| apex of heart | UBERON:0002098 | 96.58 | gold quality |
| cortical plate | UBERON:0005343 | 96.56 | gold quality |
| sperm | CL:0000019 | 96.38 | gold quality |
| amygdala | UBERON:0001876 | 96.38 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.37 | gold quality |
| spleen | UBERON:0002106 | 96.28 | gold quality |
| male germ cell | CL:0000015 | 96.09 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.03 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.03 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.01 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.00 | gold quality |
| right lung | UBERON:0002167 | 95.99 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.98 | gold quality |
| skin of leg | UBERON:0001511 | 95.97 | gold quality |
| left uterine tube | UBERON:0001303 | 95.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.92 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HNF4A
miRNA regulators (miRDB)
86 targeting ZMIZ2, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
Literature-anchored findings (GeneRIF, showing 4)
- hZimp7 modulates androgen receptor and/or other nuclear receptor-mediated transcription, possibly through alteration of chromatin structure by SWI/SNF-like BAF complexes. (PMID:16051670)
- there is an interaction between Zimp7 and PIAS proteins with higher preference for PIAS3, in androgen receptor-mediated transcription (PMID:20159969)
- LINC00265 promotes colorectal tumorigenesis via ZMIZ2 and USP7-mediated stabilization of beta-catenin. (PMID:31527801)
- Identification of zinc finger MIZ-type containing 2 as an oncoprotein enhancing NAD-dependent protein deacetylase sirtuin-1 deacetylase activity to regulate Wnt and Hippo pathways in non-small-cell lung cancer. (PMID:39266996)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zmiz2 | ENSDARG00000098683 |
| mus_musculus | Zmiz2 | ENSMUSG00000041164 |
| rattus_norvegicus | Zmiz2 | ENSRNOG00000025923 |
| drosophila_melanogaster | tna | FBGN0026160 |
| caenorhabditis_elegans | WBGENE00011259 |
Paralogs (5): PIAS1 (ENSG00000033800), PIAS2 (ENSG00000078043), PIAS4 (ENSG00000105229), ZMIZ1 (ENSG00000108175), PIAS3 (ENSG00000131788)
Protein
Protein identifiers
Zinc finger MIZ domain-containing protein 2 — Q8NF64 (reviewed: Q8NF64)
Alternative names: PIAS-like protein Zimp7
All UniProt accessions (4): C9JDA5, E7EWM3, Q8NF64, F8WC48
UniProt curated annotations — full annotation on UniProt →
Function. Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors.
Subunit / interactions. Interacts with AR, SMARCA4/BRG1 and SMARCE1/BAF57. Interaction with either SMARCA4 and SMARCE1 enhances AR-mediated transcription.
Subcellular location. Nucleus.
Tissue specificity. Expressed most abundantly in testis with lower levels in heart, brain, pancreas, prostate and ovary.
Domain organisation. The C-terminal proline-rich domain possesses a significant intrinsic transcriptional activity. This activity is inhibited by the N-terminus in the full-length protein.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NF64-1 | 1 | yes |
| Q8NF64-2 | 2 | |
| Q8NF64-3 | 3 |
RefSeq proteins (3): NP_001287888, NP_113637, NP_777589 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004181 | Znf_MIZ | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR057847 | ZMIZ1/ZMIZ2_GBD-like | Domain |
Pfam: PF02891, PF25527
UniProt features (34 total): compositionally biased region 7, region of interest 6, sequence conflict 6, binding site 4, modified residue 3, cross-link 3, splice variant 2, chain 1, zinc finger region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NF64-F1 | 54.68 | 0.28 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 616; 618; 639; 642
Post-translational modifications (6): 111, 245, 262, 402, 457, 692
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 165 (showing top):
GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_182, GOCC_NUCLEAR_REPLICATION_FORK, GOBP_PEPTIDYL_LYSINE_MODIFICATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_PROTEIN_SUMOYLATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, GOBP_RESPONSE_TO_GROWTH_FACTOR, chr7p13, PID_AR_TF_PATHWAY, GOBP_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), protein sumoylation (GO:0016925), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (5): transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), SUMO ligase activity (GO:0061665), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), nuclear replication fork (GO:0043596)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| positive regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| intracellular membrane-bounded organelle | 2 |
| regulation of DNA-templated transcription | 1 |
| peptidyl-lysine modification | 1 |
| protein modification by small protein conjugation | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription coregulator activity | 1 |
| transition metal ion binding | 1 |
| SUMO transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nuclear chromosome | 1 |
| nucleus | 1 |
| replication fork | 1 |
| CMG complex | 1 |
Protein interactions and networks
STRING
1246 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZMIZ2 | SMARCE1 | Q969G3 | 760 |
| ZMIZ2 | BANF1 | O75531 | 634 |
| ZMIZ2 | TXNRD2 | Q9NNW7 | 589 |
| ZMIZ2 | SMARCA4 | P51532 | 570 |
| ZMIZ2 | BLTP1 | Q2LD37 | 559 |
| ZMIZ2 | ALS2CL | Q60I27 | 559 |
| ZMIZ2 | THRB | P10828 | 554 |
| ZMIZ2 | LACRT | Q9GZZ8 | 509 |
| ZMIZ2 | USP7 | Q93009 | 503 |
| ZMIZ2 | TUBB1 | Q9H4B7 | 475 |
| ZMIZ2 | ARHGEF19 | Q8IW93 | 471 |
| ZMIZ2 | PEAR1 | Q5VY43 | 449 |
| ZMIZ2 | PLXNA1 | Q9UIW2 | 442 |
| ZMIZ2 | POLG | P54098 | 433 |
| ZMIZ2 | TUBB | P05218 | 424 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZMIZ2 | PIN1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PIN1 | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CRCP | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMIZ2 | ARSJ | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMIZ2 | CRCP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARSJ | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HIS2 | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMIZ2 | HIS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BANP | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMIZ2 | SLC39A7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KPNA4 | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MVP | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZMIZ2 | SOCS6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZMIZ2 | rep | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (132): ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), ZMIZ2 (Two-hybrid), C2orf88 (Two-hybrid), INTS4 (Two-hybrid), LRRC37A11P (Two-hybrid), SELV (Two-hybrid)
ESM2 similar proteins: A7EYK3, A7SEP9, A8NYM5, A8XW44, B0JYS7, B7Q2M2, C0NN85, C7YRT4, D3ZCL3, D5GDH4, E0VI98, E1C6F0, E2RGI3, E3X5D6, F6TFD9, F7ARS3, P09234, P33240, P90815, Q03369, Q15637, Q16IW3, Q1K7T5, Q1RLC9, Q298E0, Q32PA0, Q4WQM6, Q562A2, Q5BBX9, Q5RDA3, Q5U231, Q62241, Q64213, Q6GPM1, Q6P1E1, Q6PCR6, Q7PXU6, Q8BIQ5, Q8C7E9, Q8CIE2
Diamond homologs: A0A0A7EPL0, F4JYG0, O94451, Q04195, Q6P1E1, Q8CIE2, Q8N2W9, Q8NF64, Q94361, Q9JM05, Q9ULJ6, F1R4C4, O54714, O70260, O75925, O75928, O88907, Q12216, Q680Q4, Q6ASW7, Q6AZ28, Q6L4L4, Q8C5D8, Q9Y6X2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 |
|---|---|---|---|
| Deactivation of the beta-catenin transactivating complex | 5 | 55.5× | 3e-06 |
| TCF dependent signaling in response to WNT | 5 | 28.0× | 3e-05 |
| Signaling by WNT | 5 | 26.7× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
171 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 130 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3378 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:44756181:C:A | acceptor_gain | 1.0000 |
| 7:44756423:A:AG | acceptor_gain | 1.0000 |
| 7:44756423:AGT:A | acceptor_gain | 1.0000 |
| 7:44756424:G:GG | acceptor_gain | 1.0000 |
| 7:44756424:GTG:G | acceptor_gain | 1.0000 |
| 7:44756424:GTGAT:G | acceptor_gain | 1.0000 |
| 7:44756536:CCAGG:C | donor_loss | 1.0000 |
| 7:44756538:AGGTA:A | donor_loss | 1.0000 |
| 7:44756540:G:C | donor_loss | 1.0000 |
| 7:44757373:TGCA:T | acceptor_loss | 1.0000 |
| 7:44757375:CA:C | acceptor_loss | 1.0000 |
| 7:44757376:A:AC | acceptor_loss | 1.0000 |
| 7:44757541:GAGC:G | donor_gain | 1.0000 |
| 7:44757548:GCCA:G | donor_gain | 1.0000 |
| 7:44757552:G:GG | donor_gain | 1.0000 |
| 7:44757557:GAGCG:G | donor_gain | 1.0000 |
| 7:44757559:GCG:G | donor_gain | 1.0000 |
| 7:44757562:G:GG | donor_gain | 1.0000 |
| 7:44757562:GTGA:G | donor_loss | 1.0000 |
| 7:44757563:T:G | donor_loss | 1.0000 |
| 7:44760217:GGCC:G | donor_gain | 1.0000 |
| 7:44760218:GCC:G | donor_gain | 1.0000 |
| 7:44760224:GTGGG:G | donor_gain | 1.0000 |
| 7:44760423:A:AG | acceptor_gain | 1.0000 |
| 7:44760424:G:GG | acceptor_gain | 1.0000 |
| 7:44761448:GGAA:G | acceptor_gain | 1.0000 |
| 7:44761901:GCTGC:G | donor_gain | 1.0000 |
| 7:44761902:C:G | donor_gain | 1.0000 |
| 7:44761904:GC:G | donor_gain | 1.0000 |
| 7:44761906:G:GG | donor_gain | 1.0000 |
AlphaMissense
5938 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:44757473:C:A | A155D | 1.000 |
| 7:44757482:C:A | A158D | 1.000 |
| 7:44757488:C:A | A160D | 1.000 |
| 7:44757494:C:A | A162D | 1.000 |
| 7:44757500:C:A | A164D | 1.000 |
| 7:44757506:C:A | A166D | 1.000 |
| 7:44761496:G:T | G430W | 1.000 |
| 7:44761506:T:C | L433P | 1.000 |
| 7:44761514:T:C | F436L | 1.000 |
| 7:44761515:T:C | F436S | 1.000 |
| 7:44761516:C:A | F436L | 1.000 |
| 7:44761516:C:G | F436L | 1.000 |
| 7:44761521:T:A | L438Q | 1.000 |
| 7:44761521:T:C | L438P | 1.000 |
| 7:44761526:C:G | H440D | 1.000 |
| 7:44761527:A:T | H440L | 1.000 |
| 7:44761528:C:A | H440Q | 1.000 |
| 7:44761528:C:G | H440Q | 1.000 |
| 7:44761533:T:C | L442P | 1.000 |
| 7:44761541:A:C | S445R | 1.000 |
| 7:44761543:C:A | S445R | 1.000 |
| 7:44761543:C:G | S445R | 1.000 |
| 7:44761553:T:C | F449L | 1.000 |
| 7:44761554:T:C | F449S | 1.000 |
| 7:44761555:C:A | F449L | 1.000 |
| 7:44761555:C:G | F449L | 1.000 |
| 7:44761560:T:C | L451P | 1.000 |
| 7:44761584:T:C | L459P | 1.000 |
| 7:44761703:T:C | L465P | 1.000 |
| 7:44761709:T:A | L467Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000119424 (7:44756647 G>A,C), RS1000178890 (7:44760540 C>G,T), RS1000345049 (7:44750540 A>G), RS1000346062 (7:44750227 G>A,C), RS1000402711 (7:44756958 C>G,T), RS1000509989 (7:44759358 G>A), RS1000744660 (7:44768427 G>C,T), RS1000840838 (7:44766907 G>A), RS1000951859 (7:44752058 A>T), RS1000980050 (7:44770236 G>A), RS1001194247 (7:44765233 G>A), RS1001296965 (7:44769159 G>A), RS1001348862 (7:44748709 A>C), RS1001536468 (7:44768222 C>T), RS1001691353 (7:44753321 C>T)
Disease associations
OMIM: gene MIM:611196 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_96 | Red blood cell count | 1.000000e-17 |
| GCST004630_258 | Mean corpuscular hemoglobin | 1.000000e-26 |
| GCST005316_3 | Intelligence (MTAG) | 2.000000e-09 |
| GCST005316_4 | Intelligence (MTAG) | 3.000000e-09 |
| GCST005316_5 | Intelligence (MTAG) | 4.000000e-10 |
| GCST006269_1211 | General cognitive ability | 4.000000e-08 |
| GCST009524_111 | Household income (MTAG) | 3.000000e-08 |
| GCST010241_228 | Apolipoprotein A1 levels | 2.000000e-09 |
| GCST010988_154 | Adult body size | 4.000000e-12 |
| GCST90002383_426 | Hematocrit | 7.000000e-10 |
| GCST90013407_38 | Liver enzyme levels (gamma-glutamyl transferase) | 9.000000e-14 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004337 | intelligence |
| EFO:0009695 | household income |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004348 | hematocrit |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 4 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| testosterone-3-carboxymethyloxime-bovine serum albumin conjugate | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Progesterone | decreases expression, affects cotreatment | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TZ22 | HAP1 ZMIZ2 (-) 1 | Cancer cell line | Male |
| CVCL_TZ23 | HAP1 ZMIZ2 (-) 2 | Cancer cell line | Male |
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.