CREBZF
gene geneOn this page
Also known as ZFSMILE
Summary
CREBZF (CREB/ATF bZIP transcription factor, HGNC:24905) is a protein-coding gene on chromosome 11q14.1, encoding CREB/ATF bZIP transcription factor (Q9NS37). Strongly activates transcription when bound to HCFC1.
Enables identical protein binding activity. Involved in negative regulation of gene expression, epigenetic; regulation of DNA-templated transcription; and response to virus. Located in mitochondrion and nucleoplasm. Part of RNA polymerase II transcription regulator complex.
Source: NCBI Gene 58487 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 52 total
- Transcription factor: yes — 22 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001039618
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24905 |
| Approved symbol | CREBZF |
| Name | CREB/ATF bZIP transcription factor |
| Location | 11q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZF, SMILE |
| Ensembl gene | ENSG00000137504 |
| Ensembl biotype | protein_coding |
| OMIM | 606444 |
| Entrez | 58487 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 nonsense_mediated_decay, 2 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000260058, ENST00000490820, ENST00000525639, ENST00000527447, ENST00000527529, ENST00000528561, ENST00000528889, ENST00000531515, ENST00000534224, ENST00000682836, ENST00000850607
RefSeq mRNA: 1 — MANE Select: NM_001039618
NM_001039618
CCDS: CCDS41697
Canonical transcript exons
ENST00000527447 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00004282314 | 85657990 | 85665129 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 95.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.1545 / max 407.9332, expressed in 1813 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 121685 | 33.6174 | 1812 |
| 121684 | 0.9690 | 654 |
| 121686 | 0.6626 | 265 |
| 121682 | 0.5571 | 218 |
| 121683 | 0.3485 | 189 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 95.80 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.72 | gold quality |
| left ovary | UBERON:0002119 | 95.71 | gold quality |
| right ovary | UBERON:0002118 | 95.41 | gold quality |
| body of uterus | UBERON:0009853 | 95.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.87 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.78 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.72 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.58 | gold quality |
| ventricular zone | UBERON:0003053 | 94.53 | gold quality |
| right lung | UBERON:0002167 | 94.47 | gold quality |
| endocervix | UBERON:0000458 | 94.44 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.30 | gold quality |
| fundus of stomach | UBERON:0001160 | 94.29 | gold quality |
| left uterine tube | UBERON:0001303 | 94.29 | gold quality |
| pylorus | UBERON:0001166 | 94.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.19 | gold quality |
| nerve | UBERON:0001021 | 94.13 | gold quality |
| tibial nerve | UBERON:0001323 | 94.13 | gold quality |
| ovary | UBERON:0000992 | 94.11 | gold quality |
| body of pancreas | UBERON:0001150 | 94.11 | gold quality |
| tibial artery | UBERON:0007610 | 93.91 | gold quality |
| popliteal artery | UBERON:0002250 | 93.90 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.88 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.80 | gold quality |
| thyroid gland | UBERON:0002046 | 93.79 | gold quality |
| artery | UBERON:0001637 | 93.72 | gold quality |
| right coronary artery | UBERON:0001625 | 93.61 | gold quality |
| right uterine tube | UBERON:0001302 | 93.54 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.53 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.33 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
22 targets.
| Target | Regulation |
|---|---|
| ACACA | |
| AP3B1 | |
| BGLAP | |
| CD86 | |
| CREBZF | |
| ESRRG | |
| FASN | |
| FPR2 | |
| GAST | |
| HCFC1 | |
| INS | |
| NR1H3 | |
| NTRK1 | Activation |
| PDK4 | Repression |
| PPARGC1B | |
| PRKAA1 | |
| SERPINB5 | |
| SREBF1 | Repression |
| STK11 | |
| TERT | |
| TSHB | |
| WT1 |
Upstream regulators (CollecTRI, top): CREBZF, ESR1, ESRRG, SSRP1
miRNA regulators (miRDB)
360 targeting CREBZF, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
Literature-anchored findings (GeneRIF, showing 23)
- ZF suppresses the ability of Luman/CREB3 to activate gene expression (PMID:15705566)
- ZF suppresses the ability of VP16 to activate herpes simplex virus IE gene expression (PMID:16282471)
- ZF binds ATF4/CREB2 and enhances its response to MEK1 activation. (PMID:16343488)
- These results indicate that SMILE isoforms regulate the inhibition of estrogen receptor transactivation by SHP in a cell-type-specific manner and act as a novel transcriptional co-regulator in ER signalling. (PMID:18657049)
- Zhangfei causes medulloblastoma cells to undergo apoptosis (PMID:18719857)
- findings showed Zhangfei activated the expression of trkA and Egr1 in medulloblastoma cells and caused these cells to display markers of apoptosis (PMID:18719857)
- In differentiated PC12 cells, Zhangfei activated the trkA promoter and induced the expression of endogenous trkA. (PMID:19016376)
- SMILE is a novel corepressor of ERRgamma, and SIRT1 has a role as a novel repressive mechanism for SMILE and ERRgamma inverse agonist (PMID:19690166)
- SMILE is involved in the endoplasmic reticulum stress response, by modulating proteasome activity and XBP-1 transcript expression. This function of SMILE may influence immune cell behavior in the context of transplantation. (PMID:21603654)
- the curcumin/LKB1/AMPK/SMILE/PGC1alpha pathway differentially regulates ER stress-mediated gene transcription (PMID:21994947)
- a microarray study of SMILE knock-down and PMA activation in HeLa cells was compared to earlier analysis based on microarray data of kidney allograft tolerance and rejection to determine possible new genes and gene networks involved in kidney transplantation (PMID:22134986)
- CREBZF, a novel Smad8-binding protein. (PMID:22707059)
- Our objective was to determine the molecular mechanisms by which Zhangfei influences medulloblastoma cell lines (PMID:22798206)
- The transcription factor CREBZF is a novel positive regulator of p53. (PMID:22983008)
- Zhangfei had a suppressive effect on most unfolded protein response genes. (PMID:24155933)
- Zhangfei/CREBZF stabilizes p53 and co-localizes with it in cellular nuclei; the bLZip domain of Zhangfei is required for its profound effects on cell growth and interaction with p53. (PMID:24200963)
- Results indicate that Ursodeoxycholic acid (UDCA) activates SMILE gene expression, which leads to repression of liver X receptor alpha (LXRalpha)-mediated hepatic lipogenic enzyme gene expression. (PMID:24265317)
- miRNAs as potential biomarkers for the progression of gastric cancer inhibit CREBZF and regulate migration of gastric adenocarcinoma cells. (PMID:32218690)
- Up-regulation of long noncoding RNA MBNL1-AS1 suppresses breast cancer progression by modulating miR-423-5p/CREBZF axis. (PMID:35094653)
- SMILE Downregulation during Melanogenesis Induces MITF Transcription in B16F10 Cells. (PMID:36499416)
- Intrahepatic osteopontin signaling by CREBZF defines a checkpoint for steatosis-to-NASH progression. (PMID:36680394)
- When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion. (PMID:37819540)
- Macrophage CREBZF Orchestrates Inflammatory Response to Potentiate Insulin Resistance and Type 2 Diabetes. (PMID:38286660)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | crebzf | ENSDARG00000089787 |
| mus_musculus | Crebzf | ENSMUSG00000051451 |
| rattus_norvegicus | Crebzf | ENSRNOG00000018987 |
Protein
Protein identifiers
CREB/ATF bZIP transcription factor — Q9NS37 (reviewed: Q9NS37)
Alternative names: Host cell factor-binding transcription factor Zhangfei
All UniProt accessions (4): Q9NS37, E9PIM0, H0YDC7, J3KN20
UniProt curated annotations — full annotation on UniProt →
Function. Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in a HCFC1-dependent manner. Also suppresses the HCFC1-dependent transcriptional activation by CREB3 and reduces the amount of CREB3 in the cell. Able to down-regulate expression of some cellular genes in CREBZF-expressing cells.
Subunit / interactions. Interacts with HCFC1; the interaction inhibits CREB3 transcriptional activity. Interacts with CREB3; the interaction occurs only in combination with HCFC1.
Subcellular location. Nucleus.
Tissue specificity. In adults, expressed most abundantly in heart, liver and skeletal muscle, moderately abundant in kidney and pancreas, and barely detectable in lung. In fetal tissues, expressed most abundantly in kidney and very low amounts in heart, lung and liver.
Miscellaneous. Named ‘Zhangfei’ after a legendary Chinese warrior who was contemporary with Luman in around 220 AD.
Similarity. Belongs to the bZIP family. ATF subfamily.
RefSeq proteins (1): NP_001034707* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004827 | bZIP | Domain |
| IPR046347 | bZIP_sf | Homologous_superfamily |
Pfam: PF00170
UniProt features (17 total): region of interest 5, compositionally biased region 4, mutagenesis site 3, chain 1, domain 1, modified residue 1, sequence conflict 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS37-F1 | 62.65 | 0.18 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 50
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 303 | significantly reduced binding to hcfc1. |
| 304 | significantly reduced binding to hcfc1. |
| 306 | does not interact with hcfc1 and is inefficient at inhibiting creb3 transcriptional activity. does not colocalize with c |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 308 (showing top):
AHRARNT_01, GGGACCA_MIR133A_MIR133B, MODULE_97, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, PAX4_01, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, MODULE_182, GGAMTNNNNNTCCY_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, ATGTTAA_MIR302C, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, NFKB_Q6, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CATTTCA_MIR203
GO Biological Process (9): regulation of transcription by RNA polymerase II (GO:0006357), response to virus (GO:0009615), ATF6-mediated unfolded protein response (GO:0036500), negative regulation of gene expression, epigenetic (GO:0045814), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), obsolete regulation of DNA-binding transcription factor activity (GO:0051090), integrated stress response signaling (GO:0140467), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), identical protein binding (GO:0042802), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), RNA polymerase II transcription regulator complex (GO:0090575)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| transcription by RNA polymerase II | 2 |
| DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| cellular anatomical structure | 2 |
| intracellular membrane-bounded organelle | 2 |
| response to other organism | 1 |
| ER-nucleus signaling pathway | 1 |
| endoplasmic reticulum unfolded protein response | 1 |
| negative regulation of gene expression | 1 |
| epigenetic regulation of gene expression | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cellular response to stress | 1 |
| intracellular signaling cassette | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1122 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CREBZF | HCFC1 | P51610 | 985 |
| CREBZF | HCFC2 | Q9Y5Z7 | 971 |
| CREBZF | CREB3 | O43889 | 881 |
| CREBZF | CREB3L4 | Q8TEY5 | 790 |
| CREBZF | NR0B2 | Q15466 | 668 |
| CREBZF | POU2F1 | P14859 | 587 |
| CREBZF | CANX | P27824 | 492 |
| CREBZF | HP1BP3 | Q5SSJ5 | 454 |
| CREBZF | ATF4 | P18848 | 449 |
| CREBZF | SMAD9 | O15198 | 429 |
| CREBZF | DPF3 | Q92784 | 412 |
| CREBZF | DCDC2 | Q9UHG0 | 400 |
| CREBZF | EDF1 | O60869 | 395 |
| CREBZF | REL | Q04864 | 393 |
| CREBZF | ARPC2 | O15144 | 393 |
IntAct
86 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BACH1 | MAFG | psi-mi:“MI:0914”(association) | 0.870 |
| CREBZF | CREBZF | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| CREBZF | CREBZF | psi-mi:“MI:0915”(physical association) | 0.810 |
| HCFC1 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.800 |
| CREB3 | HCFC1 | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| CREBZF | ATF4 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| CREBZF | ATF4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ATF4 | CREBZF | psi-mi:“MI:0915”(physical association) | 0.780 |
| ATF4 | CREBZF | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| CREBZF | HCFC1 | psi-mi:“MI:0915”(physical association) | 0.770 |
| HCFC1 | CREBZF | psi-mi:“MI:0915”(physical association) | 0.770 |
| CREBZF | HCFC1 | psi-mi:“MI:0407”(direct interaction) | 0.770 |
| RALBP1 | CREBZF | psi-mi:“MI:0915”(physical association) | 0.740 |
| RALBP1 | JUN | psi-mi:“MI:0914”(association) | 0.640 |
| NFE2L2 | CREBZF | psi-mi:“MI:0915”(physical association) | 0.630 |
| CREBZF | XBP1 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
BioGRID (43): CREBZF (Two-hybrid), CREBZF (Two-hybrid), TTC23 (Two-hybrid), CREBZF (Affinity Capture-RNA), CREBZF (Affinity Capture-RNA), CREBZF (Affinity Capture-MS), CREBZF (Affinity Capture-MS), CREBZF (Affinity Capture-MS), CREBZF (Reconstituted Complex), TP53 (Reconstituted Complex), CREBZF (Affinity Capture-RNA), CREBZF (Affinity Capture-RNA), CREBZF (Two-hybrid), CREBZF (Two-hybrid), HCFC1 (Two-hybrid)
ESM2 similar proteins: A0A0N7KIY3, A0A2R6QE26, A2X674, A2X7U1, A2XE76, A2Y931, A2YW03, A2Z4C4, A3B6V0, D0PX88, O22768, P13027, P13526, P26307, P37398, Q01I23, Q0E0A6, Q0JB92, Q0JEB7, Q10S44, Q2QX40, Q336P5, Q336V8, Q338Z7, Q40691, Q5JMK6, Q5JNS0, Q5QNI5, Q5UG13, Q5VPE3, Q5VPE5, Q67UE2, Q6AT90, Q6H6S3, Q6K3R9, Q6YPD0, Q6YUS3, Q75KV9, Q7G737, Q7X8R0
Diamond homologs: Q91ZR3, Q9NS37
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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 |
|---|---|---|---|
| Cellular responses to stress | 7 | 13.6× | 4e-05 |
| Cellular responses to stimuli | 7 | 11.6× | 8e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| integrated stress response signaling | 5 | 117.0× | 1e-07 |
| endoplasmic reticulum unfolded protein response | 6 | 59.1× | 1e-07 |
| response to endoplasmic reticulum stress | 5 | 27.8× | 8e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
290 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:85663806:TG:T | donor_gain | 0.9800 |
| 11:85663874:AT:A | donor_gain | 0.9800 |
| 11:85662464:C:CT | acceptor_gain | 0.9700 |
| 11:85663860:TC:T | donor_gain | 0.9300 |
| 11:85663861:CC:C | donor_gain | 0.9300 |
| 11:85663865:CGA:C | donor_gain | 0.9200 |
| 11:85662456:CACTT:C | acceptor_gain | 0.9100 |
| 11:85663175:TC:T | donor_gain | 0.9000 |
| 11:85663837:T:TA | donor_gain | 0.9000 |
| 11:85663813:A:AC | donor_gain | 0.8700 |
| 11:85663814:C:CC | donor_gain | 0.8700 |
| 11:85663601:ACTGT:A | acceptor_gain | 0.8500 |
| 11:85663602:CTGT:C | acceptor_gain | 0.8500 |
| 11:85663875:T:C | donor_gain | 0.8500 |
| 11:85663600:AACTG:A | acceptor_gain | 0.8400 |
| 11:85663173:CT:C | donor_gain | 0.8300 |
| 11:85663174:TT:T | donor_gain | 0.8300 |
| 11:85663277:GCT:G | acceptor_gain | 0.8300 |
| 11:85663603:T:A | acceptor_gain | 0.8300 |
| 11:85663282:G:GT | acceptor_gain | 0.8200 |
| 11:85663283:T:TT | acceptor_gain | 0.8200 |
| 11:85663599:AAACT:A | acceptor_gain | 0.8200 |
| 11:85663800:A:AC | donor_gain | 0.8200 |
| 11:85662385:C:CT | donor_gain | 0.7800 |
| 11:85662386:T:TT | donor_gain | 0.7800 |
| 11:85663278:C:A | acceptor_gain | 0.7700 |
| 11:85662458:C:CC | acceptor_gain | 0.7600 |
| 11:85662459:T:C | acceptor_gain | 0.7500 |
| 11:85663291:AGTCT:A | acceptor_gain | 0.7500 |
| 11:85663292:GTCTG:G | acceptor_gain | 0.7500 |
AlphaMissense
2263 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:85663844:G:C | C344W | 1.000 |
| 11:85663845:C:T | C344Y | 1.000 |
| 11:85663846:A:G | C344R | 1.000 |
| 11:85663853:G:C | C341W | 1.000 |
| 11:85663854:C:T | C341Y | 1.000 |
| 11:85663855:A:G | C341R | 1.000 |
| 11:85663857:A:G | F340S | 1.000 |
| 11:85663867:A:G | S337P | 1.000 |
| 11:85663888:G:C | H330D | 1.000 |
| 11:85663890:A:G | L329P | 1.000 |
| 11:85663890:A:T | L329H | 1.000 |
| 11:85663892:A:C | C328W | 1.000 |
| 11:85663893:C:G | C328S | 1.000 |
| 11:85663893:C:T | C328Y | 1.000 |
| 11:85663894:A:G | C328R | 1.000 |
| 11:85663894:A:T | C328S | 1.000 |
| 11:85664067:A:T | V270D | 1.000 |
| 11:85664076:A:G | L267P | 1.000 |
| 11:85664097:A:G | L260P | 1.000 |
| 11:85664139:A:G | L246P | 1.000 |
| 11:85664160:A:G | L239P | 1.000 |
| 11:85664181:A:G | L232P | 1.000 |
| 11:85664193:T:C | Y228C | 1.000 |
| 11:85664198:C:A | K226N | 1.000 |
| 11:85664198:C:G | K226N | 1.000 |
| 11:85664201:C:A | K225N | 1.000 |
| 11:85664201:C:G | K225N | 1.000 |
| 11:85664208:A:G | L223P | 1.000 |
| 11:85664212:G:C | R222G | 1.000 |
| 11:85664223:G:T | A218D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000136799 (11:85679274 A>G,T), RS1000196118 (11:85676825 G>A,T), RS1000207324 (11:85680675 T>A,C), RS1000248801 (11:85682692 G>A,C), RS1000365462 (11:85682839 A>T), RS1000487547 (11:85679523 T>C,G), RS1000515093 (11:85663237 C>A,G,T), RS1000569497 (11:85683793 C>T), RS1000815140 (11:85681579 G>A), RS1000897710 (11:85663733 T>C,G), RS1000947660 (11:85659039 C>CAT), RS1001199997 (11:85671963 T>C), RS1001214455 (11:85675391 G>A), RS1001296904 (11:85678644 TTC>T), RS1001332441 (11:85675692 G>A,C)
Disease associations
OMIM: gene MIM:606444 | 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 |
|---|---|---|
| GCST010002_244 | Refractive error | 2.000000e-53 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrathiomolybdate | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | 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 |
| ICG 001 | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Vehicle Emissions | decreases reaction, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
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.