KLF9
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Summary
KLF9 (KLF transcription factor 9, HGNC:1123) is a protein-coding gene on chromosome 9q21.12, encoding Krueppel-like factor 9 (Q13886). Transcription factor that binds to GC box promoter elements.
The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription.
Source: NCBI Gene 687 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 18 total
- Transcription factor: yes — 27 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001206
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1123 |
| Approved symbol | KLF9 |
| Name | KLF transcription factor 9 |
| Location | 9q21.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000119138 |
| Ensembl biotype | protein_coding |
| OMIM | 602902 |
| Entrez | 687 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000377126
RefSeq mRNA: 1 — MANE Select: NM_001206
NM_001206
CCDS: CCDS6633
Canonical transcript exons
ENST00000377126 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001472854 | 70384604 | 70388005 |
| ENSE00001472857 | 70412859 | 70414657 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 98.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6500 / max 100.8558, expressed in 1500 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100854 | 4.3469 | 1203 |
| 100840 | 3.3031 | 1158 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.55 | gold quality |
| paraflocculus | UBERON:0005351 | 98.28 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.18 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.08 | gold quality |
| right lung | UBERON:0002167 | 98.00 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.60 | gold quality |
| synovial joint | UBERON:0002217 | 97.51 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.18 | gold quality |
| tibial artery | UBERON:0007610 | 96.86 | gold quality |
| popliteal artery | UBERON:0002250 | 96.85 | gold quality |
| tibial nerve | UBERON:0001323 | 96.80 | gold quality |
| vena cava | UBERON:0004087 | 96.53 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.53 | gold quality |
| left uterine tube | UBERON:0001303 | 96.48 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.45 | gold quality |
| muscle of leg | UBERON:0001383 | 96.14 | gold quality |
| saphenous vein | UBERON:0007318 | 96.14 | gold quality |
| diaphragm | UBERON:0001103 | 96.12 | gold quality |
| pericardium | UBERON:0002407 | 96.08 | gold quality |
| aorta | UBERON:0000947 | 96.01 | gold quality |
| muscle organ | UBERON:0001630 | 95.85 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.59 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.54 | gold quality |
| frontal pole | UBERON:0002795 | 95.46 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 95.34 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.30 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.20 | gold quality |
| urethra | UBERON:0000057 | 95.16 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.16 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.13 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 34.59 |
| E-ANND-3 | yes | 26.42 |
| E-GEOD-84465 | yes | 6.89 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
27 targets.
| Target | Regulation |
|---|---|
| AXL | |
| C1QTNF12 | Unknown |
| CDKN1A | Activation |
| CEBPB | Unknown |
| CYP11A1 | |
| CYP1A1 | Repression |
| CYP7A1 | Activation |
| DIO1 | Unknown |
| DKK1 | Unknown |
| EEF1A1 | Activation |
| FGFR1 | Activation |
| IGFBP2 | Activation |
| LDLR | Activation |
| MAPK8 | |
| MYH10 | |
| MYH11 | |
| NOTCH1 | |
| PDCD5 | Activation |
| PGR | Unknown |
| PMAIP1 | Repression |
| PPARG | Unknown |
| ROS1 | |
| SLPI | Unknown |
| STAR | |
| TBXT | |
| TFAP2A | |
| TXNRD2 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1107.1 | KLF9 | Three-zinc finger Kruppel-related |
| MA1107.2 | KLF9 | Three-zinc finger Kruppel-related |
| MA1107.3 | KLF9 | Three-zinc finger Kruppel-related |
JASPAR matrix evidence (PMIDs): PMID:12620113
Upstream regulators (CollecTRI, top): CEBPD, HOXA10, NR3C1
miRNA regulators (miRDB)
218 targeting KLF9, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
Literature-anchored findings (GeneRIF, showing 40)
- BTEB1/Progesterone receptor cross-talk to facilitate progesterone dependent gene transcription in endometrial epithelial cells. (PMID:16384861)
- identify KLF9 as a transcriptional repressor of estrogen receptor alpha signaling (PMID:17717078)
- Transient transfection of Kruppel-like factor 9 suppressed LDLR, steroidogenic acute regulatory protein, and CYP11A (PMID:18056793)
- KLF9 did not reveal a otosclerosis-causing mutation (PMID:18224337)
- HNF4alpha regulates thyroid hormone homeostasis through transcriptional regulation of the Dio1 gene with GATA4 and KLF9 (PMID:18426912)
- KLF9 may be involved in the carcinogenesis of human colorectal cancer. (PMID:18477211)
- KLF9 influences the expression of uterine epithelial genes through mechanisms likely involving its transcriptional activator and repressor functions and which may underlie altered tumor biology with aberrant KLF9 expression. (PMID:18783612)
- T3-induced genes identified basic transcription element binding protein 1/Kruppel-like factor 9 (BTEB1/KLF9) and GAR22 as TR target genes (PMID:19375645)
- Data support cross-regulation among BMP2, KLF9, and KLF13 to maintain progesterone sensitivity in stromal cells undergoing differentiation and suggest that loss of this network compromises establishment of uterine receptivity and implantation success. (PMID:20410205)
- homeobox A10(HOXA10) directly and selectively repressed Kruppel-like factor 9 expression in endometrial epithelial cells (PMID:20463357)
- these results show for the first time that KLF9 has differentiating and tumor-suppressing functions in tumor-initiating stem cells. (PMID:21280156)
- It was suggested that KLF9 loss-of-expression accompanying endometrial carcinogenesis may predispose endometrial epithelial cells to mechanisms of escape from estrogen-mediated growth regulation, leading to progression of established neoplasms. (PMID:21543766)
- Expression levels of HOXA11, LIF and BTEB1 mRNA were measured in endometrium during the mid-secretory phase using semi-quantitative RT-PCR (PMID:21987111)
- Data identify KLF9 as a novel and potentially clinically relevant transcriptional regulator of drug-induced apoptosis in multiple myeloma cells. (PMID:22144178)
- Loss of KLF9 coregulation of endometrial stromal progesterone receptor-responsive gene networks may underlie progesterone resistance in endometriosis. (PMID:22259059)
- Klf9 affects keratinocyte proliferation/differentiation by controlling the expression of target genes in a daytime-dependent manner. (PMID:22711835)
- Studied mRNA levels of FOXO1, KLF9 and YT521 in human normal and cancerous endometrial tissue. In subjects with endometrial cancer the KLF9 mRNA level (1.12 +/- 0.38) was lower (p < 0.001) when compared to controls (3.11 +/- 1.52). (PMID:23865345)
- We confirmed that PDCD5 overexpression stimulated the promoter activities of KLF9 by luciferase reporter assays. (PMID:24173774)
- Nrf2 amplifies oxidative stress via induction of Klf9. (PMID:24613345)
- Data collectively show that KLF9 substantially inhibits AKT activation and abrogates tumor growth of PCa cells. (PMID:24737412)
- the expression of KLF9 is up-regulated in human ovarian cancer; KLF9 knockdown significantly inhibited cell proliferation and resulted in cell cycle arrest in the G0/G1 phase (PMID:25216959)
- increased KLF9 expression is in part responsible for CYP2D6 induction during pregnancy via the potentiation of HNF4alpha transactivation of CYP2D6. (PMID:25217496)
- KLF9 suppresses the growth of hepatocellular carcinoma cells in vivo and positively regulates p53 expression by increasing protein stability. (PMID:25242357)
- Data indicate that integrin alpha6 repression by Kruppel-like factor-9 (KLF9) inhibits glioblastoma cell stemness and tumorigenicity. (PMID:25288800)
- Reduced KLF9 expression is associated with glioma. (PMID:25305446)
- Myometrial KLF9 may contribute to the onset of human parturition through its regulation of PGR expression and inflammatory signaling networks. (PMID:25313913)
- TRs cooperate with KLF9 to regulate hepatocyte proliferation and differentiation and early stages of organogenesis and that TRs exert widespread and important influences on ESC biology. (PMID:25330987)
- The expression of KLF9 is down-regulated in esophageal squamous cell carcinoma and inversely correlated with the clinical features. (PMID:25641762)
- In this review, we focus on the functions, roles, and regulatory networks of these five KLFs in HCC, summarize key pathways, and propose areas for further investigation (PMID:25652467)
- Palmitic acid increases Ppargamma and Klf6 & Klf9 gene expression and promotes triglyceride accumulation in HepG2 cells. (PMID:25686501)
- Suggest role for miR-570/KLF9 molecular network in controlling lung carcinoma progression. (PMID:26045791)
- miR-141-3p/KLF9 may play an important role in regulating the growth of prostate cancer (PMID:27956179)
- KLF9 status was associated with differentiation and vascular invasion expression and was found to be a valuable prognostic factor for patients with pancreatic ductal adenocarcinoma (PMID:28668877)
- In conclusion, LPA plays dual roles as a ligand mediator through the activation of cell surface G-coupled protein receptors and as an intracellular second messenger through the activation of PPARgamma. We discuss the contribution of the LPA1-PPARgamma-KLF9 axis to neurite outgrowth and proliferation in human iPSC-derived neurons. (PMID:28716732)
- KLF9 could down-regulate MMP9 expression to inhibit breast cancer metastasis. (PMID:29107105)
- results demonstrated the molecular interaction between miR-378 and KLF9, indicating the therapeutic potential of miR-378 for osteosarcoma. (PMID:29490146)
- KLF9 suppressed tumorigenicity of the pancreatic ductal adenocarcinoma by negatively regulating frizzled-5. (PMID:29621541)
- XBP1s transcriptionally activates KLF9 under conditions of high ER stress. (PMID:30282030)
- KLF9 and BCL3 as transcription factors that enhance reprogramming of primordial germ cells (PMID:30286177)
- Low KLF9 expression is associated with proliferation and invasion of glioma. (PMID:30431124)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | klf9 | ENSDARG00000068194 |
| mus_musculus | Klf9 | ENSMUSG00000033863 |
| rattus_norvegicus | Klf9 | ENSRNOG00000014215 |
| drosophila_melanogaster | luna | FBGN0040765 |
Paralogs (22): KLF6 (ENSG00000067082), KLF8 (ENSG00000102349), KLF5 (ENSG00000102554), KLF1 (ENSG00000105610), KLF3 (ENSG00000109787), KLF7 (ENSG00000118263), KLF12 (ENSG00000118922), KLF2 (ENSG00000127528), KLF16 (ENSG00000129911), KLF4 (ENSG00000136826), KLF10 (ENSG00000155090), KLF15 (ENSG00000163884), SP8 (ENSG00000164651), KLF13 (ENSG00000169926), SP7 (ENSG00000170374), KLF17 (ENSG00000171872), KLF11 (ENSG00000172059), SP6 (ENSG00000189120), SP5 (ENSG00000204335), SP9 (ENSG00000217236), KLF14 (ENSG00000266265), KLF18 (ENSG00000283039)
Protein
Protein identifiers
Krueppel-like factor 9 — Q13886 (reviewed: Q13886)
Alternative names: Basic transcription element-binding protein 1, GC-box-binding protein 1, Transcription factor BTEB1
All UniProt accessions (1): Q13886
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds to GC box promoter elements. Selectively activates mRNA synthesis from genes containing tandem repeats of GC boxes but represses genes with a single GC box. Acts as an epidermal circadian transcription factor regulating keratinocyte proliferation.
Subunit / interactions. Interacts with ZZEF1.
Subcellular location. Nucleus.
Tissue specificity. Epidermis (at protein level).
Induction. Expression is highly sensitive to glucocorticoids and shows diurnal expression patterns. A strong induction of expression seen during keratinocyte differentiation in a cortisol dependent manner.
Similarity. Belongs to the Sp1 C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_001197* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (6 total): zinc finger region 3, chain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13886-F1 | 63.69 | 0.11 |
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): 122
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9764790 | Positive Regulation of CDH1 Gene Transcription |
MSigDB gene sets: 0 (showing top):
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), circadian rhythm (GO:0007623), negative regulation of keratinocyte proliferation (GO:0010839), cellular response to cortisol stimulus (GO:0071387), rhythmic process (GO:0048511)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Regulation of CDH1 Gene Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| rhythmic process | 1 |
| regulation of keratinocyte proliferation | 1 |
| keratinocyte proliferation | 1 |
| negative regulation of epithelial cell proliferation | 1 |
| response to cortisol | 1 |
| cellular response to glucocorticoid stimulus | 1 |
| cellular response to alcohol | 1 |
| cellular response to ketone | 1 |
| biological_process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1588 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLF9 | PGR | P06401 | 859 |
| KLF9 | SIN3A | Q96ST3 | 850 |
| KLF9 | TRPM3 | Q9HCF6 | 667 |
| KLF9 | FKBP5 | Q13451 | 597 |
| KLF9 | JUN | P05412 | 505 |
| KLF9 | KLF6 | Q99612 | 501 |
| KLF9 | IGFBP1 | P08833 | 476 |
| KLF9 | TBX3 | O15119 | 467 |
| KLF9 | TFAP2A | P05549 | 466 |
| KLF9 | TXNIP | Q9H3M7 | 461 |
| KLF9 | EEF1A1 | P04719 | 454 |
| KLF9 | JUND | P17535 | 452 |
| KLF9 | CYP3A7 | P24462 | 449 |
| KLF9 | CYP1A1 | P04798 | 441 |
| KLF9 | GATA1 | P15976 | 433 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PGR | KLF9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KLF9 | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| KLF9 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (99): KLF9 (Two-hybrid), PGR (Affinity Capture-Western), TP53 (Co-localization), SIN3A (Reconstituted Complex), KLF9 (Positive Genetic), KLF9 (Affinity Capture-RNA), SIN3A (Proximity Label-MS), SIN3B (Proximity Label-MS), GABPA (Proximity Label-MS), MGA (Proximity Label-MS), BBX (Proximity Label-MS), BAZ1B (Proximity Label-MS), NR2C2 (Proximity Label-MS), PBRM1 (Proximity Label-MS), HIVEP1 (Proximity Label-MS)
ESM2 similar proteins: A0A068A9T3, A0A084AFG9, A0A1U8QIH0, A0A2R6S148, A0A345BJN6, A0A3G1DJG8, A0A443HK05, A0A481WNP6, A0A4D6Q411, A0A4D6Q4S0, A0A4D6QCQ2, A0A6S6AAU0, F1B281, G0KYB3, G4MM89, G4NDH1, I1RF54, K3VZ28, M1ETK3, M1W424, O35739, P15315, P32805, P49953, P50902, P79288, P9WEF9, P9WF00, Q01713, Q03081, Q0CE14, Q13886, Q22678, Q2UA42, Q2V3L3, Q32PH1, Q4KM91, Q567C6, Q5B7I6, Q5B7I8
Diamond homologs: A6QQW0, B4F7E9, O70230, P36508, P52747, P79288, Q13886, Q1LYE3, Q58DZ6, Q5XIU2, Q8BMU0, Q91853, O08584, O35738, O35739, O35819, O43474, O62259, O75840, O89090, O95600, P08047, P0CG40, P46099, P57682, P58334, Q01713, Q01714, Q02446, Q0VA40, Q13887, Q14V87, Q19A40, Q5XGT8, Q60793, Q60843, Q60980, Q62445, Q64HY3, Q64HY5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NR3C1 | “up-regulates quantity by expression” | KLF9 | “transcriptional regulation” |
| KLF9 | “up-regulates activity” | SIN3A | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
310 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:70388003:CAC:C | acceptor_gain | 1.0000 |
| 9:70388004:ACCTA:A | acceptor_loss | 1.0000 |
| 9:70388005:CCTA:C | acceptor_loss | 1.0000 |
| 9:70388006:CT:C | acceptor_loss | 1.0000 |
| 9:70388001:TTCAC:T | acceptor_gain | 0.9900 |
| 9:70388002:TCAC:T | acceptor_gain | 0.9900 |
| 9:70388003:CACC:C | acceptor_gain | 0.9900 |
| 9:70388004:AC:A | acceptor_gain | 0.9900 |
| 9:70388005:CC:C | acceptor_gain | 0.9900 |
| 9:70388006:C:CC | acceptor_gain | 0.9900 |
| 9:70388006:C:T | acceptor_gain | 0.9400 |
| 9:70412910:T:A | donor_gain | 0.9400 |
| 9:70412504:T:TA | donor_gain | 0.9300 |
| 9:70412505:C:A | donor_gain | 0.9300 |
| 9:70413104:T:A | donor_gain | 0.9200 |
| 9:70388004:ACCT:A | acceptor_gain | 0.9100 |
| 9:70414400:T:TA | donor_gain | 0.9000 |
| 9:70388002:TCACC:T | acceptor_gain | 0.8900 |
| 9:70388006:C:A | acceptor_gain | 0.8500 |
| 9:70411141:AG:A | donor_gain | 0.8300 |
| 9:70413049:CG:C | donor_gain | 0.8200 |
| 9:70388003:CACCT:C | acceptor_gain | 0.8100 |
| 9:70388005:CCT:C | acceptor_gain | 0.8000 |
| 9:70411142:G:C | donor_gain | 0.8000 |
| 9:70413095:T:C | donor_gain | 0.8000 |
| 9:70412494:C:CA | donor_gain | 0.7900 |
| 9:70388021:C:CT | acceptor_gain | 0.7800 |
| 9:70388007:T:A | acceptor_gain | 0.7700 |
| 9:70414367:T:TA | donor_gain | 0.7600 |
| 9:70411821:T:C | donor_gain | 0.7500 |
AlphaMissense
1600 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:70387875:G:C | F212L | 1.000 |
| 9:70387875:G:T | F212L | 1.000 |
| 9:70387877:A:G | F212L | 1.000 |
| 9:70387898:A:G | C205R | 1.000 |
| 9:70387920:G:C | H197Q | 1.000 |
| 9:70387920:G:T | H197Q | 1.000 |
| 9:70387942:A:G | L190P | 1.000 |
| 9:70387959:G:C | F184L | 1.000 |
| 9:70387959:G:T | F184L | 1.000 |
| 9:70387961:A:G | F184L | 1.000 |
| 9:70387971:G:C | C180W | 1.000 |
| 9:70387986:G:C | C175W | 1.000 |
| 9:70387988:A:G | C175R | 1.000 |
| 9:70387836:G:C | H225Q | 0.999 |
| 9:70387836:G:T | H225Q | 0.999 |
| 9:70387848:G:C | H221Q | 0.999 |
| 9:70387848:G:T | H221Q | 0.999 |
| 9:70387858:A:G | L218P | 0.999 |
| 9:70387876:A:G | F212S | 0.999 |
| 9:70387887:A:C | C208W | 0.999 |
| 9:70387888:C:G | C208S | 0.999 |
| 9:70387888:C:T | C208Y | 0.999 |
| 9:70387889:A:G | C208R | 0.999 |
| 9:70387889:A:T | C208S | 0.999 |
| 9:70387902:G:C | F203L | 0.999 |
| 9:70387902:G:T | F203L | 0.999 |
| 9:70387904:A:G | F203L | 0.999 |
| 9:70387922:G:C | H197D | 0.999 |
| 9:70387927:C:G | R195P | 0.999 |
| 9:70387932:G:C | H193Q | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000023143 (9:70386642 T>C), RS1000048041 (9:70393893 T>A,C), RS1000152466 (9:70393507 C>A,T), RS1000266109 (9:70400472 G>A), RS1000312031 (9:70387163 G>A), RS1000326237 (9:70408023 C>G,T), RS1000442407 (9:70407743 A>G), RS1000664631 (9:70406359 C>T), RS1000709333 (9:70387588 A>T), RS1000720918 (9:70400753 G>A), RS1000778842 (9:70405975 G>A), RS1000927231 (9:70398492 T>A), RS1001077664 (9:70392334 T>C), RS1001165244 (9:70395140 G>A), RS1001197456 (9:70406329 C>G,T)
Disease associations
OMIM: gene MIM:602902 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001416_6 | Body mass index (SNP x SNP interaction) | 1.000000e-09 |
| GCST002461_22 | Body mass index | 3.000000e-08 |
| GCST005316_57 | Intelligence (MTAG) | 3.000000e-08 |
| GCST006069_67 | Time-dependent creatinine clearance change response to tenofovir treatment in HIV infection (time and treatment arm interaction) | 9.000000e-06 |
| GCST006979_163 | Heel bone mineral density | 8.000000e-11 |
| GCST009391_757 | Metabolite levels | 9.000000e-06 |
| GCST009676_8 | Urinary calcium excretion | 8.000000e-07 |
| GCST010002_320 | Refractive error | 3.000000e-39 |
| GCST012299_13 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction (3df) | 9.000000e-06 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004337 | intelligence |
| EFO:0007934 | creatinine clearance measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0010390 | sphingomyelin 14:0 measurement |
| EFO:0004838 | calcium measurement |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
97 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 9 |
| bisphenol A | increases methylation, affects cotreatment, increases expression, affects expression, decreases expression (+1 more) | 4 |
| Triiodothyronine | decreases expression, increases expression | 4 |
| Arsenic Trioxide | decreases expression, decreases reaction, affects cotreatment, increases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, affects methylation | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Methylcholanthrene | decreases expression, affects binding, increases reaction | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Tretinoin | affects cotreatment, increases expression, decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| allicin | decreases expression, decreases reaction | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
5 cell lines: 3 embryonic stem cell, 1 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A3S3 | SEES3-1V human KLF9, clone1 | Embryonic stem cell | Male |
| CVCL_A3S4 | SEES3-1V human KLF9, clone2 | Embryonic stem cell | Male |
| CVCL_A3S5 | SEES3-1V human KLF9, clone3 | Embryonic stem cell | Male |
| CVCL_HA18 | MCF-7 eGFP-KLF9 | Cancer cell line | Female |
| CVCL_HC83 | HEK293 eGFP-KLF9 | Transformed cell line | Female |
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): bipolar disorder, major depressive disorder