ZNF91
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Also known as HPF7HTF10
Summary
ZNF91 (zinc finger protein 91, HGNC:13166) is a protein-coding gene on chromosome 19p12, encoding Zinc finger protein 91 (Q05481). Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1.
The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).
Source: NCBI Gene 7644 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 187 total
- Phenotypes (HPO): 4
- Transcription factor: yes — 52 downstream targets (CollecTRI)
- MANE Select transcript:
NM_003430
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13166 |
| Approved symbol | ZNF91 |
| Name | zinc finger protein 91 |
| Location | 19p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HPF7, HTF10 |
| Ensembl gene | ENSG00000167232 |
| Ensembl biotype | protein_coding |
| OMIM | 603971 |
| Entrez | 7644 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 7 protein_coding_CDS_not_defined, 6 protein_coding, 1 retained_intron
ENST00000300619, ENST00000397082, ENST00000593292, ENST00000593341, ENST00000593645, ENST00000595533, ENST00000595893, ENST00000596528, ENST00000596989, ENST00000597458, ENST00000599281, ENST00000599743, ENST00000909304, ENST00000909305
RefSeq mRNA: 2 — MANE Select: NM_003430
NM_001300951, NM_003430
CCDS: CCDS42541, CCDS74322
Canonical transcript exons
ENST00000300619 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001415621 | 23357696 | 23362725 |
| ENSE00002988952 | 23395325 | 23395471 |
| ENSE00003588565 | 23374638 | 23374764 |
| ENSE00003634793 | 23373742 | 23373837 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 98.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4823 / max 660.2663, expressed in 1718 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180272 | 21.4700 | 1718 |
| 180263 | 0.0123 | 3 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 98.95 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.92 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.66 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.50 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.36 | gold quality |
| diaphragm | UBERON:0001103 | 98.31 | gold quality |
| parietal lobe | UBERON:0001872 | 98.30 | gold quality |
| pons | UBERON:0000988 | 98.22 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.15 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.14 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.98 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.76 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.70 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.70 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.65 | gold quality |
| biceps brachii | UBERON:0001507 | 97.55 | gold quality |
| frontal pole | UBERON:0002795 | 97.54 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.46 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.45 | gold quality |
| gluteal muscle | UBERON:0002000 | 97.42 | gold quality |
| jejunum | UBERON:0002115 | 97.41 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 97.37 | gold quality |
| renal medulla | UBERON:0000362 | 97.30 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.30 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.26 | gold quality |
| paraflocculus | UBERON:0005351 | 97.11 | gold quality |
| vena cava | UBERON:0004087 | 97.10 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.93 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.83 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 96.79 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7606 | no | 164.49 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
52 targets.
| Target | Regulation |
|---|---|
| ADH1B | |
| AFP | |
| ALDOA | |
| AP3B1 | |
| CALCA | |
| CAMK2A | |
| CAV1 | |
| CD34 | |
| CD74 | |
| CDH1 | |
| CDKN2B | |
| DMPK | |
| FCGR2B | |
| FCGR3B | Repression |
| FGF18 | |
| GADD45A | |
| GAL | |
| GAST | |
| GDNF | |
| GFI1 | |
| GNAS | |
| HLA-A | |
| HLA-E | |
| IFNB1 | |
| IGF2 | |
| IL2 | |
| IL3 | |
| IL4 | |
| INS | |
| INSR |
Upstream regulators (CollecTRI, top): ZNF143, ZNF331
miRNA regulators (miRDB)
81 targeting ZNF91, 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-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| 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-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
Literature-anchored findings (GeneRIF, showing 1)
- Hypoxic exosomal HIF-1alpha-stabilizing circZNF91 promotes chemoresistance of normoxic pancreatic cancer cells via enhancing glycolysis. (PMID:34294845)
Cross-species orthologs
30 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf646 | ENSDARG00000061424 |
| danio_rerio | si:dkey-154p10.3 | ENSDARG00000068366 |
| danio_rerio | si:dkey-89b17.4 | ENSDARG00000075545 |
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| danio_rerio | si:ch211-148l7.4 | ENSDARG00000094469 |
| danio_rerio | znf576.1 | ENSDARG00000097819 |
| drosophila_melanogaster | Sry-delta | FBGN0003512 |
| drosophila_melanogaster | az2 | FBGN0025185 |
| drosophila_melanogaster | hang | FBGN0026575 |
| drosophila_melanogaster | CG3032 | FBGN0029928 |
| drosophila_melanogaster | CG2129 | FBGN0030008 |
| drosophila_melanogaster | CG11695 | FBGN0030316 |
| drosophila_melanogaster | CG8944 | FBGN0030680 |
| drosophila_melanogaster | CG7101 | FBGN0030963 |
| drosophila_melanogaster | CG1602 | FBGN0033186 |
| drosophila_melanogaster | CG18011 | FBGN0033491 |
| drosophila_melanogaster | CG12942 | FBGN0033569 |
| drosophila_melanogaster | CG8089 | FBGN0033993 |
| drosophila_melanogaster | indra | FBGN0035213 |
| drosophila_melanogaster | CG10654 | FBGN0036294 |
| drosophila_melanogaster | CG6791 | FBGN0037918 |
| drosophila_melanogaster | CG17803 | FBGN0038547 |
| drosophila_melanogaster | CG12219 | FBGN0043796 |
| drosophila_melanogaster | CG30020 | FBGN0050020 |
| drosophila_melanogaster | pzg | FBGN0259785 |
| drosophila_melanogaster | mld | FBGN0263490 |
| drosophila_melanogaster | zf30C | FBGN0270924 |
| caenorhabditis_elegans | ztf-15 | WBGENE00011066 |
| caenorhabditis_elegans | WBGENE00013734 | |
| caenorhabditis_elegans | WBGENE00015649 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)
Protein
Protein identifiers
Zinc finger protein 91 — Q05481 (reviewed: Q05481)
Alternative names: Zinc finger protein HPF7, Zinc finger protein HTF10
All UniProt accessions (3): Q05481, M0QX31, M0R186
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1. May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidence is required to confirm this result in vivo.
Subcellular location. Nucleus.
Miscellaneous. ZNF91 is only present in primates and emerged in the last common ancestor of humans and Old-World monkeys. It underwent structural changes between 8-12 Million years ago, probably to improve the protein’s ability to bind and repress SINE-VNTR-Alu (SVA) retrotransposons elements.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q05481-1 | 1 | yes |
| Q05481-2 | 2 |
RefSeq proteins (2): NP_001287880, NP_003421* (*=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 |
Pfam: PF00096, PF01352
UniProt features (59 total): zinc finger region 36, sequence variant 10, sequence conflict 10, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q05481-F1 | 72.09 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 131 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, HSIAO_HOUSEKEEPING_GENES, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, chr19p12, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, WEIGEL_OXIDATIVE_STRESS_RESPONSE, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, RIGGI_EWING_SARCOMA_PROGENITOR_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), transposable element silencing (GO:0010526), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| negative regulation of gene expression | 1 |
| retrotransposition | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
584 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF91 | ZNF106 | Q9H2Y7 | 815 |
| ZNF91 | ZPR1 | O75312 | 765 |
| ZNF91 | LGALS4 | P56470 | 470 |
| ZNF91 | ZNF208 | O43345 | 433 |
| ZNF91 | TRIM28 | Q13263 | 400 |
| ZNF91 | ZBTB35 | P52739 | 384 |
| ZNF91 | LPXN | O60711 | 383 |
| ZNF91 | ZNF142 | P52746 | 363 |
| ZNF91 | LCP1 | P13796 | 348 |
| ZNF91 | TACSTD2 | P09758 | 347 |
| ZNF91 | CEACAM6 | P40199 | 342 |
| ZNF91 | CXADR | P78310 | 336 |
| ZNF91 | CTSF | Q9UBX1 | 336 |
| ZNF91 | ZNF212 | Q9UDV6 | 320 |
| ZNF91 | SETDB1 | Q15047 | 300 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF91 | CHMP5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | ZNF91 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HTT | ZNF91 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PURG | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZKSCAN8 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF91 | NDEL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF91 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): ZNF91 (Affinity Capture-MS), ZNF91 (Affinity Capture-MS), ZNF91 (Affinity Capture-RNA), ZNF91 (Proximity Label-MS), ZNF91 (Affinity Capture-MS), ZNF91 (Affinity Capture-MS), ZNF91 (Affinity Capture-MS), ZNF91 (Affinity Capture-MS), ZNF91 (Proximity Label-MS), ZNF91 (Affinity Capture-MS), ZNF91 (Affinity Capture-MS), ZNF91 (Affinity Capture-MS), PRDX1 (Cross-Linking-MS (XL-MS)), ZNF91 (Proximity Label-MS), ZNF91 (Affinity Capture-RNA)
ESM2 similar proteins: A2VDQ7, A6NK75, A6NN14, A6NNF4, A8MQ14, A8MTY0, A8MXY4, B7Z6K7, E9QAG8, O43345, O75290, O75373, O75437, P0CJ79, P10751, P17017, P17019, P17035, P17038, P18749, P35789, P51522, Q03923, Q03938, Q05481, Q14585, Q3SYV7, Q4V348, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6P5C7, Q6ZN08, Q6ZN57, Q6ZR52, Q86V71, Q86XN6, Q8IYB9, Q8N7Q3
Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF91 | “down-regulates quantity by repression” | FCGR3B | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
187 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 171 |
| Likely benign | 11 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
795 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:23374632:CCTTA:C | donor_loss | 1.0000 |
| 19:23374633:CTTA:C | donor_loss | 1.0000 |
| 19:23374634:TTAC:T | donor_loss | 1.0000 |
| 19:23374635:TA:T | donor_loss | 1.0000 |
| 19:23374636:A:AC | donor_gain | 1.0000 |
| 19:23374636:AC:A | donor_gain | 1.0000 |
| 19:23374637:C:CC | donor_gain | 1.0000 |
| 19:23374637:C:G | donor_loss | 1.0000 |
| 19:23374637:CC:C | donor_gain | 1.0000 |
| 19:23374760:AGTCC:A | acceptor_gain | 1.0000 |
| 19:23374761:GTCC:G | acceptor_gain | 1.0000 |
| 19:23374762:TCC:T | acceptor_gain | 1.0000 |
| 19:23374763:CC:C | acceptor_gain | 1.0000 |
| 19:23374763:CCC:C | acceptor_gain | 1.0000 |
| 19:23374764:CC:C | acceptor_gain | 1.0000 |
| 19:23374765:C:CC | acceptor_gain | 1.0000 |
| 19:23374766:T:A | acceptor_loss | 1.0000 |
| 19:23374636:ACC:A | donor_gain | 0.9900 |
| 19:23374637:CCC:C | donor_gain | 0.9900 |
| 19:23395359:G:C | donor_gain | 0.9900 |
| 19:23373736:ACCT:A | donor_loss | 0.9800 |
| 19:23373737:CCTA:C | donor_loss | 0.9800 |
| 19:23373738:CTAC:C | donor_loss | 0.9800 |
| 19:23373739:TACC:T | donor_loss | 0.9800 |
| 19:23373740:ACC:A | donor_loss | 0.9800 |
| 19:23373741:CCTGT:C | donor_loss | 0.9800 |
| 19:23373835:TACCT:T | acceptor_loss | 0.9800 |
| 19:23373836:ACCTG:A | acceptor_loss | 0.9800 |
| 19:23373838:CT:C | acceptor_loss | 0.9800 |
| 19:23373839:T:G | acceptor_loss | 0.9800 |
AlphaMissense
7902 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:23360978:A:C | F667L | 0.986 |
| 19:23360978:A:T | F667L | 0.986 |
| 19:23360980:A:G | F667L | 0.986 |
| 19:23359718:A:C | F1087L | 0.985 |
| 19:23359718:A:T | F1087L | 0.985 |
| 19:23359720:A:G | F1087L | 0.985 |
| 19:23359802:A:C | F1059L | 0.977 |
| 19:23359802:A:T | F1059L | 0.977 |
| 19:23359804:A:G | F1059L | 0.977 |
| 19:23359970:A:C | F1003L | 0.977 |
| 19:23359970:A:T | F1003L | 0.977 |
| 19:23359972:A:G | F1003L | 0.977 |
| 19:23360138:A:C | F947L | 0.977 |
| 19:23360138:A:T | F947L | 0.977 |
| 19:23360140:A:G | F947L | 0.977 |
| 19:23361062:A:C | F639L | 0.977 |
| 19:23361062:A:T | F639L | 0.977 |
| 19:23361064:A:G | F639L | 0.977 |
| 19:23360558:A:C | F807L | 0.976 |
| 19:23360558:A:T | F807L | 0.976 |
| 19:23360560:A:G | F807L | 0.976 |
| 19:23362070:A:C | F303L | 0.976 |
| 19:23362070:A:T | F303L | 0.976 |
| 19:23362072:A:G | F303L | 0.976 |
| 19:23361902:A:C | F359L | 0.975 |
| 19:23361902:A:T | F359L | 0.975 |
| 19:23361904:A:G | F359L | 0.975 |
| 19:23360642:A:C | F779L | 0.974 |
| 19:23360642:A:T | F779L | 0.974 |
| 19:23360644:A:G | F779L | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000048132 (19:23324324 T>C), RS1000068217 (19:23362982 C>G,T), RS1000103304 (19:23337585 A>C), RS1000118544 (19:23341280 A>C,G), RS1000145293 (19:23304565 C>T), RS1000245730 (19:23363241 G>A), RS1000296827 (19:23351117 G>C), RS1000303794 (19:23356991 G>A), RS1000323704 (19:23331980 C>A,T), RS1000357636 (19:23354912 G>A,T), RS1000381065 (19:23342943 A>G), RS1000413884 (19:23350843 T>A), RS1000424242 (19:23348717 A>G), RS1000495720 (19:23368377 G>A,C), RS1000514582 (19:23358622 C>T)
Disease associations
OMIM: gene MIM:603971 | disease phenotypes: MIM:256300, MIM:116200
GenCC curated gene-disease
Mondo (5): microcephaly (MONDO:0001149), familial nephrotic syndrome (MONDO:0002350), cataract (MONDO:0005129), inherited retinal dystrophy (MONDO:0019118), microphthalmia (MONDO:0021129)
Orphanet (1): OBSOLETE: Inherited retinal disorder (Orphanet:71862)
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0000518 | Cataract |
| HP:0000556 | Retinal dystrophy |
| HP:0000568 | Microphthalmia |
GWAS associations
0 associations (top):
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002386 | Cataract | C11.510.245 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| D008850 | Microphthalmos | C11.250.566; C16.131.384.666 |
| D058499 | Retinal Dystrophies | C11.768.585.658 |
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 |
|---|---|---|
| Estradiol | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Hydrogen Peroxide | affects expression, decreases expression | 2 |
| Tetrachlorodibenzodioxin | affects expression, affects cotreatment, increases expression | 2 |
| urushiol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| afimoxifene | increases expression | 1 |
| tibolone | decreases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| tebuconazole | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, increases expression | 1 |
| Resveratrol | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Coumestrol | decreases expression | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Selenium | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TZ52 | HAP1 ZNF91 (-) 1 | Cancer cell line | Male |
| CVCL_TZ53 | HAP1 ZNF91 (-) 2 | Cancer cell line | Male |
| CVCL_TZ54 | HAP1 ZNF91 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00273221 | PHASE4 | UNKNOWN | Combined Phacotube vs Phacotrabeculectomy:A Randomized Controlled Trial |
| NCT00312299 | PHASE4 | COMPLETED | Posterior Capsule Opacification Study |
| NCT00345046 | PHASE4 | COMPLETED | A Comparison of Three Different Formulations of Prednisolone Acetate 1% |
| NCT00347243 | PHASE4 | COMPLETED | Wavefront Analisys and Contrast Sensitivity of Spherical and Aspherical Intraocular Lenses |
| NCT00347503 | PHASE4 | COMPLETED | Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients |
| NCT00348244 | PHASE4 | COMPLETED | Ketorolac vs. Steroid in the Prevention of CME |
| NCT00348270 | PHASE4 | COMPLETED | Comparison of the Quality of Vision Provided by AMO Tecnis Z9000 and Alcon Laboratories MA60 Acrysof Posterior Chamber Intraocular Lenses |
| NCT00348582 | PHASE4 | COMPLETED | Acular LS vs. Nevanac in Post op Inflammation Following Cataract Surgery |
| NCT00348621 | PHASE4 | COMPLETED | A Study of Interventions to Reduce Disability From Visual Loss in Nursing Home Residents |
| NCT00349583 | PHASE4 | COMPLETED | Efficacy of Topical Cyclosporine Versus Tears for Improving Visual Outcomes Following Multifocal IOL Implantation |
| NCT00355446 | PHASE4 | COMPLETED | Bioavailability of Bimatoprost Ophthalmic Solution in Human Aqueous. |
| NCT00386438 | PHASE4 | COMPLETED | Efficacy of Honan Balloon in Intraocular Pressure Reduction Before Phacoemulsification |
| NCT00392275 | PHASE4 | COMPLETED | Penetrance of Third Generation Fluoroquinolones in Eyes With Functioning Filtering Blebs |
| NCT00428363 | PHASE4 | COMPLETED | Effect of Optic Edge Design in a Silicone Intraocular Lens on Posterior Capsule Opacification |
| NCT00449267 | PHASE4 | COMPLETED | Aurolab Hydrophobic Foldable Intraocular Lens Study |
| NCT00459303 | PHASE4 | COMPLETED | Comparison of Functional Vision Provided by AMO Tecnis Z9000 and Alcon SA60AT Acrysof |
| NCT00469690 | PHASE4 | COMPLETED | Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients: Trough Drug Effects |
| NCT00576485 | PHASE4 | COMPLETED | Spherical Aberration and Contrast Sensitivity in IOLs |
| NCT00612729 | PHASE4 | COMPLETED | Light Filters in Intraocular Lenses (IOLs) and Its Influence on Colour and Contrast Vision. |
| NCT00612781 | PHASE4 | COMPLETED | Yellow Versus White Study |
| NCT00630019 | PHASE4 | COMPLETED | Ocular Tissue Levels of 1.5% Levofloxacin Ophthalmic Solution Compared to an Active Comparator |
| NCT00673803 | PHASE4 | COMPLETED | Influence of Two Different Preloaded Intraocular Lens (IOLs) on Posterior Capsule Opacification |
| NCT00684138 | PHASE4 | COMPLETED | ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) |
| NCT00698724 | PHASE4 | COMPLETED | Comparing Optical Coherence Tomography (OCT) and Visual Acuity Outcomes in Subjects Undergoing Cataract Surgery, Who Receive Xibrom Ophthalmic Solution and Standard Presurgical Care vs. Xibrom Ophthalmic Solution Plus Prednisolone Acetate 1% and Standard Presurgical Care |
| NCT00710905 | PHASE4 | TERMINATED | Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 |
| NCT00710931 | PHASE4 | COMPLETED | Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 |
| NCT00711347 | PHASE4 | COMPLETED | Intraoperative Floppy Iris Syndrome |
| NCT00712244 | PHASE4 | COMPLETED | DisCoVisc Versus DuoVisc, Healon5 and AmVisc Plus |
| NCT00717080 | PHASE4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT00719732 | PHASE4 | COMPLETED | Visual Function After Implantation of Bilateral AcrySof ReSTOR Aspheric +3 |
| NCT00721253 | PHASE4 | COMPLETED | Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA |
| NCT00731640 | PHASE4 | COMPLETED | Contralateral ReSTOR / Monofocal or Phakic Eye |
| NCT00732030 | PHASE4 | COMPLETED | Low Cylinder Toric |
| NCT00758199 | PHASE4 | COMPLETED | Determination of Optimum Duration of Treatment With Bromfenac (Xibrom) Eyedrops Following Cataract Surgery |
| NCT00760058 | PHASE4 | WITHDRAWN | Visual Outcome and Visual Quality After Bilateral Implantation of the AcrySof® IQ IOL Compared to MI60® and Tecnis® IOL |
| NCT00760487 | PHASE4 | COMPLETED | Visual Function After Implantation of Bilateral AcrySof® Toric Natural Intraocular Lens |
| NCT00761488 | PHASE4 | WITHDRAWN | Recommendations for Monitoring Clinical Experience Following Implantation of the AcrySof® Toric |
| NCT00763360 | PHASE4 | COMPLETED | To Compare the Ability of DiscoVisc® OVD to Protect the Corneal Endothelium and Maintain Anterior Chamber Space With Healon® and Amvisc® PLUS During Cataract Surgery. |
| NCT00786370 | PHASE4 | COMPLETED | Dexmedetomidine vs. Propofol for Cataract Surgery |
| NCT00786565 | PHASE4 | COMPLETED | Clinical Evaluation of a New Aspheric Intraocular Lens. |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cataract, familial nephrotic syndrome, microcephaly, microphthalmia