ZBTB21
gene geneOn this page
Also known as KIAA1227
Summary
ZBTB21 (zinc finger and BTB domain containing 21, HGNC:13083) is a protein-coding gene on chromosome 21q22.3, encoding Zinc finger and BTB domain-containing protein 21 (Q9ULJ3). Acts as a transcription repressor.
Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; POZ domain binding activity; and methyl-CpG binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm.
Source: NCBI Gene 49854 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 170 total
- Druggable target: yes
- MANE Select transcript:
NM_001098402
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13083 |
| Approved symbol | ZBTB21 |
| Name | zinc finger and BTB domain containing 21 |
| Location | 21q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1227 |
| Ensembl gene | ENSG00000173276 |
| Ensembl biotype | protein_coding |
| OMIM | 616485 |
| Entrez | 49854 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000310826, ENST00000398497, ENST00000398499, ENST00000398505, ENST00000398511, ENST00000425521, ENST00000449949, ENST00000465968, ENST00000881815, ENST00000932835
RefSeq mRNA: 5 — MANE Select: NM_001098402
NM_001098402, NM_001098403, NM_001320729, NM_001320731, NM_020727
CCDS: CCDS13678, CCDS42934
Canonical transcript exons
ENST00000310826 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001485132 | 42002897 | 42002961 |
| ENSE00001547265 | 41986831 | 41994108 |
| ENSE00003849528 | 42010252 | 42010360 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 97.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3239 / max 179.2426, expressed in 1802 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 190578 | 13.9246 | 1768 |
| 190577 | 2.9874 | 1266 |
| 190576 | 0.2800 | 116 |
| 190575 | 0.1320 | 49 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cauda epididymis | UBERON:0004360 | 97.06 | gold quality |
| endothelial cell | CL:0000115 | 95.76 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.06 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.98 | gold quality |
| secondary oocyte | CL:0000655 | 93.55 | gold quality |
| caput epididymis | UBERON:0004358 | 93.51 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.89 | gold quality |
| cartilage tissue | UBERON:0002418 | 91.84 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.88 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.30 | gold quality |
| lower lobe of lung | UBERON:0008949 | 88.59 | gold quality |
| visceral pleura | UBERON:0002401 | 88.28 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.40 | gold quality |
| parietal pleura | UBERON:0002400 | 86.89 | gold quality |
| bone marrow cell | CL:0002092 | 86.88 | gold quality |
| superficial temporal artery | UBERON:0001614 | 86.66 | gold quality |
| oocyte | CL:0000023 | 86.36 | gold quality |
| kidney epithelium | UBERON:0004819 | 86.18 | gold quality |
| pancreatic ductal cell | CL:0002079 | 85.99 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.92 | gold quality |
| bone marrow | UBERON:0002371 | 85.81 | gold quality |
| mammary duct | UBERON:0001765 | 85.75 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 85.71 | gold quality |
| placenta | UBERON:0001987 | 85.69 | gold quality |
| mammalian vulva | UBERON:0000997 | 85.44 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.13 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.09 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 85.09 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.05 | gold quality |
| eye | UBERON:0000970 | 85.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.38 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2487.1 | ZBTB21 | Factors with multiple dispersed zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:38959316
miRNA regulators (miRDB)
200 targeting ZBTB21, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
Literature-anchored findings (GeneRIF, showing 2)
- ZNF295 may be involved in the bi-directional control of gene expression in concert with ZFP161 (PMID:15629158)
- Genotyping was accomplished on Infinium Human610-QUAD version 1. In the ilSIRENTE population, genetic variants in ZNF295 and C2CD2 (rs928874 and rs1788355) on chromosome 21q22.3, were significantly associated with the 4-meter gait speed (PMID:29158487)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zbtb21 | ENSDARG00000043285 |
| mus_musculus | Zbtb21 | ENSMUSG00000046962 |
| rattus_norvegicus | Zbtb21 | ENSRNOG00000001623 |
Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), ZBTB46 (ENSG00000130584), PRDM12 (ENSG00000130711), ZNF280D (ENSG00000137871), NACC2 (ENSG00000148411), FEZF2 (ENSG00000153266), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), BCL6B (ENSG00000161940), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB14 (ENSG00000198081), ZBTB12 (ENSG00000204366), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)
Protein
Protein identifiers
Zinc finger and BTB domain-containing protein 21 — Q9ULJ3 (reviewed: Q9ULJ3)
Alternative names: Zinc finger protein 295
All UniProt accessions (3): Q9ULJ3, E7EVF9, Q5KS07
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcription repressor.
Subunit / interactions. Homodimer. Interacts with ZBTB14.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous in fetal and adult tissues.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULJ3-1 | 1, ZNF295L | yes |
| Q9ULJ3-2 | 2, ZNF295S |
RefSeq proteins (5): NP_001091872, NP_001091873, NP_001307658, NP_001307660, NP_065778 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR041011 | Znf_C2H2_6 | Domain |
Pfam: PF00096, PF00651, PF18450
UniProt features (68 total): cross-link 21, modified residue 11, region of interest 8, zinc finger region 8, compositionally biased region 6, helix 5, sequence variant 2, turn 2, chain 1, domain 1, splice variant 1, sequence conflict 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WJP | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULJ3-F1 | 54.06 | 0.06 |
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 (32): 345, 381, 411, 422, 431, 434, 435, 438, 605, 714, 1003, 40, 40, 255, 266, 273, 312, 337, 383, 430 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 162 (showing top):
TGCGCANK_UNKNOWN, CREBP1_Q2, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, CREB_Q4, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, E4F1_Q6, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, CREBP1_01, chr21q22, P53_DECAMER_Q2, ATF_01, CREB_01, LEE_RECENT_THYMIC_EMIGRANT, SANSOM_APC_MYC_TARGETS
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (9): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), methyl-CpG binding (GO:0008327), POZ domain binding (GO:0031208), identical protein binding (GO:0042802), 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)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transition metal ion binding | 1 |
| nucleotide binding | 1 |
| sequence-specific DNA binding | 1 |
| protein domain specific binding | 1 |
| protein 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
962 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBTB21 | C2CD2 | Q9Y426 | 610 |
| ZBTB21 | RRP1B | Q14684 | 586 |
| ZBTB21 | LIPI | Q6XZB0 | 553 |
| ZBTB21 | PDXK | O00764 | 530 |
| ZBTB21 | CXorf58 | Q96LI9 | 512 |
| ZBTB21 | LRRC42 | Q9Y546 | 453 |
| ZBTB21 | RIPK4 | P57078 | 448 |
| ZBTB21 | TRARG1 | Q8IXB3 | 448 |
| ZBTB21 | CRELD1 | Q96HD1 | 428 |
| ZBTB21 | DYRK1A | Q13627 | 420 |
| ZBTB21 | HUNK | P57058 | 412 |
| ZBTB21 | ZNF697 | Q5TEC3 | 412 |
| ZBTB21 | PRDM15 | P57071 | 405 |
| ZBTB21 | PPP1R14D | Q9NXH3 | 405 |
| ZBTB21 | VPS26C | O14972 | 394 |
| ZBTB21 | UMODL1 | Q5DID0 | 394 |
IntAct
180 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZBTB21 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.900 |
| YWHAQ | WDR62 | psi-mi:“MI:0914”(association) | 0.830 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2R2D | YEATS4 | psi-mi:“MI:0914”(association) | 0.730 |
| FBXL17 | BACH1 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2R2B | MYO9A | psi-mi:“MI:0914”(association) | 0.640 |
| CETN1 | SFI1 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD4 | SSNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| ABTB1 | ZBTB21 | psi-mi:“MI:0915”(physical association) | 0.620 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| POLE2 | CYP4F12 | psi-mi:“MI:0914”(association) | 0.560 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| GSTA1 | GSTA4 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L5 | RPS2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABTB1 | VARS1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| CASQ2 | PES1 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | TUBG1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (198): ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Proximity Label-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS)
ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A7YWH3, B1WBU4, O15151, O35618, O43298, O88850, P24278, P97303, Q01954, Q0V8G8, Q15916, Q17RG1, Q562E2, Q5RC05, Q5RDQ6, Q5SXH7, Q5TC79, Q5VYS8, Q5W0Q7, Q5XIN1, Q6ZPY5, Q6ZSB9, Q6ZU67, Q7ZUW7, Q7ZYI3, Q8BLK9, Q8BSV3, Q8IW35, Q8K088, Q8N680, Q8N7W2, Q8TCN5, Q8VHI4, Q8WW38, Q90W33, Q96BR9, Q96S38, Q99ME3
Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 194 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 |
|---|---|---|---|
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 9 | 46.5× | 4e-11 |
| Activation of BAD and translocation to mitochondria | 7 | 41.0× | 2e-08 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 36.2× | 4e-08 |
| Activation of BH3-only proteins | 7 | 26.7× | 3e-07 |
| RHO GTPases activate PKNs | 9 | 22.0× | 2e-08 |
| Intrinsic Pathway for Apoptosis | 7 | 15.8× | 1e-05 |
| SARS-CoV-1-host interactions | 10 | 13.5× | 2e-07 |
| FOXO-mediated transcription | 5 | 12.9× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 6 | 12.5× | 4e-03 |
| negative regulation of translation | 7 | 7.8× | 1e-02 |
| intracellular protein localization | 10 | 6.0× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
170 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 154 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
786 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:42010246:ACTC:A | donor_loss | 1.0000 |
| 21:42010248:TCACC:T | donor_loss | 1.0000 |
| 21:42010249:CA:C | donor_loss | 1.0000 |
| 21:42010250:A:AC | donor_gain | 1.0000 |
| 21:42010250:A:T | donor_loss | 1.0000 |
| 21:42010251:C:CC | donor_gain | 1.0000 |
| 21:42010251:CCGG:C | donor_gain | 1.0000 |
| 21:42010251:CCGGT:C | donor_gain | 1.0000 |
| 21:42009445:C:CA | donor_gain | 0.9900 |
| 21:42010245:TAC:T | donor_loss | 0.9900 |
| 21:42010246:A:AC | donor_gain | 0.9900 |
| 21:42010247:C:CC | donor_gain | 0.9900 |
| 21:42010250:AC:A | donor_gain | 0.9900 |
| 21:42010251:CC:C | donor_gain | 0.9900 |
| 21:42010251:CCG:C | donor_gain | 0.9900 |
| 21:41994104:TTTAT:T | acceptor_gain | 0.9800 |
| 21:41994106:TAT:T | acceptor_gain | 0.9800 |
| 21:41994109:C:CC | acceptor_gain | 0.9800 |
| 21:42010244:TTAC:T | donor_loss | 0.9800 |
| 21:41993904:ATTTT:A | donor_gain | 0.9700 |
| 21:41994105:TTAT:T | acceptor_gain | 0.9700 |
| 21:41994106:TATC:T | acceptor_loss | 0.9700 |
| 21:41994108:TCTA:T | acceptor_loss | 0.9700 |
| 21:41994109:CTA:C | acceptor_loss | 0.9700 |
| 21:41994117:CAAAA:C | acceptor_loss | 0.9700 |
| 21:42002896:CCA:C | donor_gain | 0.9700 |
| 21:42010049:TGGGA:T | donor_gain | 0.9700 |
| 21:42008650:T:C | donor_gain | 0.9600 |
| 21:42002959:CTT:C | acceptor_gain | 0.9500 |
| 21:42008188:T:TA | donor_gain | 0.9500 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000112195 (21:42009807 C>G), RS1000169708 (21:42009012 G>C), RS1000536399 (21:42009660 G>A), RS1000635288 (21:42005579 G>A,C), RS1000656183 (21:42010469 A>C,G,T), RS1001005770 (21:42006796 C>A,G,T), RS1001026992 (21:41987976 C>A), RS1001103996 (21:42000636 G>C), RS1001351871 (21:42006442 AAAT>A), RS1001531586 (21:42005112 A>T), RS1001591320 (21:42011533 A>G), RS1001644965 (21:42011356 C>G), RS1002002943 (21:41998708 G>T), RS1002082126 (21:41994773 G>A), RS1002285464 (21:42001225 G>C)
Disease associations
OMIM: gene MIM:616485 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002770_1 | Hand grip strength | 6.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006941 | grip strength measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5069368 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, affects cotreatment | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Tetrachlorodibenzodioxin | affects expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| 15-acetyldeoxynivalenol | increases expression | 1 |
| diethyl malate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5059501 | Binding | Proteomics fold change data (SUDHL4 cells, 1h) | Data for DCP probe CCT369260 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XV89 | HEK293 eGFP-ZBTB21 | 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.