ZRANB2
gene geneOn this page
Also known as ZISZIS1ZIS2
Summary
ZRANB2 (zinc finger RANBP2-type containing 2, HGNC:13058) is a protein-coding gene on chromosome 1p31.1, encoding Zinc finger Ran-binding domain-containing protein 2 (O95218). Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. It is a selective cancer dependency (DepMap: 32.5% of cell lines).
Enables RNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Located in nucleoplasm.
Source: NCBI Gene 9406 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 44 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 32.5% of screened cell lines
- MANE Select transcript:
NM_203350
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13058 |
| Approved symbol | ZRANB2 |
| Name | zinc finger RANBP2-type containing 2 |
| Location | 1p31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZIS, ZIS1, ZIS2 |
| Ensembl gene | ENSG00000132485 |
| Ensembl biotype | protein_coding |
| OMIM | 604347 |
| Entrez | 9406 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000254821, ENST00000370920, ENST00000473260, ENST00000477096, ENST00000479947, ENST00000487510, ENST00000611683, ENST00000852037, ENST00000852038, ENST00000852039, ENST00000929967, ENST00000929968, ENST00000929969
RefSeq mRNA: 2 — MANE Select: NM_203350
NM_005455, NM_203350
CCDS: CCDS659, CCDS660
Canonical transcript exons
ENST00000370920 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000903865 | 71072121 | 71072255 |
| ENSE00000903866 | 71072472 | 71072548 |
| ENSE00000903867 | 71076795 | 71076877 |
| ENSE00000903868 | 71078457 | 71078565 |
| ENSE00000903869 | 71078656 | 71078708 |
| ENSE00000995751 | 71069276 | 71069362 |
| ENSE00000995752 | 71070827 | 71070996 |
| ENSE00001867543 | 71063291 | 71065137 |
| ENSE00001954996 | 71080940 | 71081035 |
| ENSE00003530659 | 71066776 | 71066934 |
Expression profiles
Bgee: expression breadth ubiquitous, 266 present calls, max score 99.14.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 101.2845 / max 4693.6319, expressed in 1819 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12817 | 101.2845 | 1819 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 99.14 | gold quality |
| oviduct epithelium | UBERON:0004804 | 99.08 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.03 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.76 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.65 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.59 | gold quality |
| caput epididymis | UBERON:0004358 | 98.48 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.46 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.46 | gold quality |
| pituitary gland | UBERON:0000007 | 98.41 | gold quality |
| tibia | UBERON:0000979 | 98.38 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.29 | gold quality |
| body of uterus | UBERON:0009853 | 98.26 | gold quality |
| deltoid | UBERON:0001476 | 98.23 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.12 | gold quality |
| left ovary | UBERON:0002119 | 98.09 | gold quality |
| upper arm skin | UBERON:0004263 | 98.08 | gold quality |
| sural nerve | UBERON:0015488 | 98.07 | gold quality |
| right ovary | UBERON:0002118 | 98.06 | gold quality |
| peripheral nervous system | UBERON:0000010 | 98.00 | gold quality |
| nerve | UBERON:0001021 | 98.00 | gold quality |
| tibial nerve | UBERON:0001323 | 98.00 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.98 | gold quality |
| right uterine tube | UBERON:0001302 | 97.98 | gold quality |
| ovary | UBERON:0000992 | 97.95 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.94 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.91 | gold quality |
| rectum | UBERON:0001052 | 97.80 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.74 | gold quality |
| fallopian tube | UBERON:0003889 | 97.72 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6386 | no | 554.39 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting ZRANB2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 32.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- sites responsible for MRNA binding have been characterized. (PMID:12657633)
- Crystallization of a ZRANB2-RNA complex (PMID:19052380)
- ZRANB2 is part of the supraspliceosome and causes differential splicing of numerous primary transcripts, some of which might have a role in cancer. (PMID:23666063)
- These data identify Aletrnative splicing programs controlled by ZRANB2 and SYF2 and converging on ECT2, that participate to breast cancer cell resistance to doxorubicin. (PMID:31943118)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zranb2 | ENSDARG00000044332 |
| mus_musculus | Zranb2 | ENSMUSG00000028180 |
| rattus_norvegicus | Zranb2 | ENSRNOG00000009990 |
| drosophila_melanogaster | CG3732 | FBGN0034750 |
| caenorhabditis_elegans | WBGENE00021295 |
Protein
Protein identifiers
Zinc finger Ran-binding domain-containing protein 2 — O95218 (reviewed: O95218)
Alternative names: Zinc finger protein 265, Zinc finger, splicing
All UniProt accessions (1): O95218
UniProt curated annotations — full annotation on UniProt →
Function. Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. Binds to ssRNA containing the consensus sequence 5’-AGGUAA-3’. May interfere with constitutive 5’-splice site selection.
Subunit / interactions. Interacts with the C-terminal half of SNRNP70, the Arg/Ser-rich domain of AKAP17A as well as with U2AF1 and CLK1.
Subcellular location. Nucleus.
Post-translational modifications. Isoform 2 is phosphorylated on Ser-310 upon DNA damage, probably by ATM or ATR.
Domain organisation. The RanBP2-type zinc fingers mediate binding to RNA.
Similarity. Belongs to the ZRANB2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95218-1 | 1, ZIS-1 | yes |
| O95218-2 | 2, ZIS-2 |
RefSeq proteins (2): NP_005446, NP_976225* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001876 | Znf_RanBP2 | Domain |
| IPR017337 | ZRANB2 | Family |
| IPR036443 | Znf_RanBP2_sf | Homologous_superfamily |
Pfam: PF00641
UniProt features (34 total): modified residue 13, compositionally biased region 7, strand 3, turn 3, zinc finger region 2, region of interest 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3G9Y | X-RAY DIFFRACTION | 1.4 |
| 1N0Z | SOLUTION NMR | |
| 2K1P | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95218-F1 | 56.70 | 0.00 |
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 (13): 9, 18, 54, 92, 120, 153, 181, 188, 193, 303, 305, 307, 310
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 118 (showing top):
FISCHER_G1_S_CELL_CYCLE, AAGCCAT_MIR135A_MIR135B, CAFFAREL_RESPONSE_TO_THC_UP, GTGCCTT_MIR506, CATTTCA_MIR203, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RNA_SPLICING, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ELK1_01, ZHANG_BREAST_CANCER_PROGENITORS_UP, TGCCTTA_MIR124A, CAFFAREL_RESPONSE_TO_THC_24HR_5_DN, STAT1_02, SCGGAAGY_ELK1_02
GO Biological Process (3): mRNA processing (GO:0006397), RNA splicing (GO:0008380), RNA processing (GO:0006396)
GO Molecular Function (5): lipopolysaccharide binding (GO:0001530), RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| mRNA metabolic process | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| lipid binding | 1 |
| carbohydrate derivative binding | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1492 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZRANB2 | SNRNP70 | P08621 | 756 |
| ZRANB2 | RANBP2 | P49792 | 601 |
| ZRANB2 | U2AF1 | Q01081 | 577 |
| ZRANB2 | TDG | Q13569 | 552 |
| ZRANB2 | RBMX | P38159 | 543 |
| ZRANB2 | AGGF1 | Q8N302 | 520 |
| ZRANB2 | MKRN1 | Q9UHC7 | 501 |
| ZRANB2 | SYF2 | O95926 | 430 |
| ZRANB2 | OR4C6 | Q8NH72 | 405 |
| ZRANB2 | ASZ1 | Q8WWH4 | 403 |
| ZRANB2 | TRA2B | P62995 | 401 |
| ZRANB2 | C1QBP | Q07021 | 395 |
| ZRANB2 | RBM5 | P52756 | 389 |
| ZRANB2 | TRA2A | Q13595 | 375 |
| ZRANB2 | NPM1 | P06748 | 366 |
IntAct
83 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIP4K2A | AHCYL1 | psi-mi:“MI:0914”(association) | 0.730 |
| AKAP17A | ZRANB2 | psi-mi:“MI:0915”(physical association) | 0.650 |
| AKAP17A | ZRANB2 | psi-mi:“MI:0403”(colocalization) | 0.650 |
| ZRANB2 | ARRB1 | psi-mi:“MI:0915”(physical association) | 0.640 |
| LUC7L2 | ZRANB2 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| ZRANB2 | PIP4K2A | psi-mi:“MI:0914”(association) | 0.610 |
| ZRANB2 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| MAPT | KIF2A | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| LRRK2 | DFFA | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZMYM4 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| DYNC2I1 | ZRANB2 | psi-mi:“MI:0914”(association) | 0.510 |
| ARRB2 | ZRANB2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| U2AF2 | U2SURP | psi-mi:“MI:0914”(association) | 0.480 |
| ZRANB2 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ZRANB2 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| KIF20A | ZRANB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DDX41 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARRB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ARRB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| METTL3 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (255): ZRANB2 (Affinity Capture-MS), ZRANB2 (Affinity Capture-MS), TOP1 (Affinity Capture-MS), PRPF4B (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L (Affinity Capture-MS), KPNA5 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), RSBN1L (Affinity Capture-MS), RSBN1 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), VANGL1 (Affinity Capture-MS), PIP4K2C (Affinity Capture-MS), PIP4K2B (Affinity Capture-MS), PIP4K2A (Affinity Capture-MS)
ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, O35986, O55035, O95218, P30189, P30414, P30415, Q19QU3, Q27450, Q28EE8, Q2HJC9, Q3B7G7, Q3KPW4, Q4P4G8, Q4V8I5, Q4V9W2, Q502P0, Q505I5, Q5BKY9, Q5F4A9, Q5R580, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q5ZLX5, Q66PJ3, Q6AXY7, Q6C1V6, Q6NQD9, Q6P7Y3, Q6ZUT1, Q7L4I2, Q80SY5
Diamond homologs: O35986, O95218, Q19QU3, Q5R580, Q5ZLX5, Q92804, Q94KD0, Q9AST1, Q9R020, Q8GZ43, O43120, P35637, P56959, Q01844, Q03251, Q05966, Q27294, Q28009, Q44560, Q61545, Q6C747, Q9LIS2, Q9SVM8, Q9WX37, Q9WX39, A0A0D1DZT6, O43719, P11940, P53830, P61286, Q5R8F7, Q5RB63, Q8BGC0, Q9H361, O75526, P49311, Q29RT0, Q499V6, Q4R813, Q56JZ7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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 Splicing - Major Pathway | 12 | 10.2× | 8e-07 |
| Dengue Virus-Host Interactions | 9 | 6.4× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal complex assembly | 6 | 47.5× | 1e-06 |
| mRNA splicing, via spliceosome | 11 | 13.3× | 5e-07 |
| negative regulation of canonical NF-kappaB signal transduction | 5 | 11.3× | 8e-03 |
| RNA splicing | 9 | 10.4× | 3e-05 |
| mRNA processing | 10 | 10.4× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1513 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:71066935:C:CC | acceptor_gain | 1.0000 |
| 1:71066939:A:C | acceptor_gain | 1.0000 |
| 1:71066940:T:C | acceptor_gain | 1.0000 |
| 1:71066940:T:TC | acceptor_gain | 1.0000 |
| 1:71066943:A:AC | acceptor_gain | 1.0000 |
| 1:71066943:A:C | acceptor_gain | 1.0000 |
| 1:71066944:T:C | acceptor_gain | 1.0000 |
| 1:71066944:T:TC | acceptor_gain | 1.0000 |
| 1:71066957:C:CT | acceptor_gain | 1.0000 |
| 1:71066962:A:C | acceptor_gain | 1.0000 |
| 1:71066966:C:CT | acceptor_gain | 1.0000 |
| 1:71066967:A:C | acceptor_gain | 1.0000 |
| 1:71066968:T:C | acceptor_gain | 1.0000 |
| 1:71066968:T:TC | acceptor_gain | 1.0000 |
| 1:71070828:TGG:T | donor_gain | 1.0000 |
| 1:71070993:CATC:C | acceptor_gain | 1.0000 |
| 1:71070997:C:CC | acceptor_gain | 1.0000 |
| 1:71071884:T:TA | donor_gain | 1.0000 |
| 1:71071887:T:TA | donor_gain | 1.0000 |
| 1:71072117:TCA:T | donor_loss | 1.0000 |
| 1:71072118:CA:C | donor_loss | 1.0000 |
| 1:71072119:A:C | donor_loss | 1.0000 |
| 1:71072122:T:TA | donor_gain | 1.0000 |
| 1:71072125:T:C | donor_gain | 1.0000 |
| 1:71072129:A:C | donor_gain | 1.0000 |
| 1:71072130:C:CC | donor_gain | 1.0000 |
| 1:71072133:A:AC | donor_gain | 1.0000 |
| 1:71072152:T:TA | donor_gain | 1.0000 |
| 1:71072157:AT:A | donor_gain | 1.0000 |
| 1:71072158:T:TA | donor_gain | 1.0000 |
AlphaMissense
2109 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:71072248:C:G | R129P | 1.000 |
| 1:71072249:G:T | R129S | 1.000 |
| 1:71072251:C:A | G128V | 1.000 |
| 1:71072251:C:T | G128E | 1.000 |
| 1:71072252:C:G | G128R | 1.000 |
| 1:71072252:C:T | G128R | 1.000 |
| 1:71072253:A:C | F127L | 1.000 |
| 1:71072253:A:T | F127L | 1.000 |
| 1:71072254:A:C | F127C | 1.000 |
| 1:71072254:A:G | F127S | 1.000 |
| 1:71072255:A:C | F127V | 1.000 |
| 1:71072255:A:G | F127L | 1.000 |
| 1:71072255:A:T | F127I | 1.000 |
| 1:71072475:A:C | D125E | 1.000 |
| 1:71072475:A:T | D125E | 1.000 |
| 1:71072476:T:A | D125V | 1.000 |
| 1:71072476:T:C | D125G | 1.000 |
| 1:71072476:T:G | D125A | 1.000 |
| 1:71072477:C:A | D125Y | 1.000 |
| 1:71072477:C:G | D125H | 1.000 |
| 1:71072510:A:G | Y114H | 1.000 |
| 1:71072523:T:A | R109S | 1.000 |
| 1:71072523:T:G | R109S | 1.000 |
| 1:71072524:C:G | R109T | 1.000 |
| 1:71072527:T:A | E108V | 1.000 |
| 1:71072528:C:T | E108K | 1.000 |
| 1:71072532:A:C | F106L | 1.000 |
| 1:71072532:A:T | F106L | 1.000 |
| 1:71072533:A:C | F106C | 1.000 |
| 1:71072533:A:G | F106S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016859 (1:71079997 TA>T,TAA), RS1000165348 (1:71075766 C>G), RS1000244825 (1:71075626 A>G,T), RS1000296728 (1:71081278 C>G,T), RS1000328559 (1:71074560 T>C), RS1000564587 (1:71077108 G>A,C), RS1000628404 (1:71076504 C>G), RS1000723555 (1:71082135 G>A,C), RS1000935600 (1:71072933 C>T), RS1001141566 (1:71070460 C>G), RS1001265354 (1:71068684 A>T), RS1001271061 (1:71081346 C>T), RS1001368086 (1:71072603 C>T), RS1001413989 (1:71064712 T>A), RS1001514503 (1:71063750 A>T)
Disease associations
OMIM: gene MIM:604347 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002701_19 | Verbal declarative memory | 2.000000e-06 |
| GCST009267_17 | Dental caries (decayed, missing and filled teeth) | 3.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0006806 | paragraph delayed recall measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725053 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.26 | Kd | 55 | nM | MOLIBRESIB |
| 7.05 | IC50 | 90 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179131: Binding affinity against ZRANB2 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0550 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, affects splicing | 3 |
| bisphenol A | decreases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| trichostatin A | affects cotreatment, decreases expression | 1 |
| arsenite | increases abundance, increases expression, affects splicing | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| coumarin | decreases phosphorylation | 1 |
| cupric oxide | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| fenpyroximate | increases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Antimycin A | increases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Caffeine | affects phosphorylation | 1 |
| Coal | increases abundance, decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697185 | Binding | Inhibition of ZRANB2 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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): dental caries