KLF17
gene geneOn this page
Also known as Zfp393FLJ40160
Summary
KLF17 (KLF transcription factor 17, HGNC:18830) is a protein-coding gene on chromosome 1p34.1, encoding Krueppel-like factor 17 (Q5JT82). Transcription repressor that binds to the promoter of target genes and prevents their expression.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within gamete generation. Predicted to be located in chromatin.
Source: NCBI Gene 128209 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_173484
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18830 |
| Approved symbol | KLF17 |
| Name | KLF transcription factor 17 |
| Location | 1p34.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Zfp393, FLJ40160 |
| Ensembl gene | ENSG00000171872 |
| Ensembl biotype | protein_coding |
| OMIM | 609602 |
| Entrez | 128209 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay
ENST00000372299, ENST00000476802
RefSeq mRNA: 1 — MANE Select: NM_173484
NM_173484
CCDS: CCDS508
Canonical transcript exons
ENST00000372299 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001145521 | 44130512 | 44130756 |
| ENSE00001236004 | 44129353 | 44130196 |
| ENSE00001457463 | 44133238 | 44135140 |
| ENSE00001457470 | 44118821 | 44118988 |
Expression profiles
Bgee: expression breadth broad, 83 present calls, max score 76.33.
FANTOM5 (CAGE): breadth broad, TPM avg 0.9560 / max 136.8984, expressed in 284 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2588 | 0.6180 | 239 |
| 2589 | 0.1342 | 44 |
| 2591 | 0.1298 | 8 |
| 2593 | 0.0305 | 6 |
| 2595 | 0.0289 | 5 |
| 2592 | 0.0081 | 6 |
| 2594 | 0.0065 | 5 |
Top tissues by expression
226 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 76.33 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.83 | gold quality |
| right testis | UBERON:0004534 | 75.49 | gold quality |
| testis | UBERON:0000473 | 73.89 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 60.69 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 60.25 | gold quality |
| sperm | CL:0000019 | 57.32 | silver quality |
| stromal cell of endometrium | CL:0002255 | 57.29 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 56.56 | gold quality |
| lower esophagus | UBERON:0013473 | 56.52 | gold quality |
| upper leg skin | UBERON:0004262 | 54.88 | silver quality |
| right lung | UBERON:0002167 | 54.36 | gold quality |
| left adrenal gland | UBERON:0001234 | 53.92 | gold quality |
| right adrenal gland | UBERON:0001233 | 53.59 | gold quality |
| adult organism | UBERON:0007023 | 53.58 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 53.21 | gold quality |
| urinary bladder | UBERON:0001255 | 52.56 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 52.36 | gold quality |
| adrenal gland | UBERON:0002369 | 52.22 | gold quality |
| adrenal cortex | UBERON:0001235 | 52.13 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 51.87 | gold quality |
| body of uterus | UBERON:0009853 | 50.64 | gold quality |
| myometrium | UBERON:0001296 | 50.37 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 50.00 | gold quality |
| gall bladder | UBERON:0002110 | 49.16 | gold quality |
| vermiform appendix | UBERON:0001154 | 49.08 | gold quality |
| left uterine tube | UBERON:0001303 | 48.61 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 48.41 | gold quality |
| upper lobe of lung | UBERON:0008948 | 48.22 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 47.70 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.11 |
| E-MTAB-8060 | no | 65.11 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
5 targets.
| Target | Regulation |
|---|---|
| CCND1 | Repression |
| CD44 | Repression |
| PARK7 | |
| SERPINE1 | Repression |
| TWIST1 | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1514.1 | KLF17 | Three-zinc finger Kruppel-related |
| MA1514.2 | KLF17 | Three-zinc finger Kruppel-related |
JASPAR matrix evidence (PMIDs): PMID:11443140
Upstream regulators (CollecTRI, top): TP53, TWIST1
miRNA regulators (miRDB)
42 targeting KLF17, 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-126-5P | 100.00 | 72.71 | 3180 |
| 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
Literature-anchored findings (GeneRIF, showing 26)
- KLF17 is a new member of the Sp/KLF family of transcription factors. (PMID:16460907)
- demonstrate that KLF17 expression is significantly downregulated in primary human breast cancer samples and that the combined expression pattern of KLF17 and Id1 can serve as a potential biomarker for lymph node metastasis in breast cancer (PMID:19801974)
- KLF17 has a role in transcriptional regulation of metastasis by Id1 [review] (PMID:19951400)
- it is possible that KLF17 inhibits tumor growth in lung adenocarcinoma. (PMID:22240024)
- Overall, these findings suggest a repressing role of KLF17 in tumor invasion (PMID:23325444)
- KLF17 may have an oncogenic role during EEC progression via initiating EMT through the regulation of TWIST1 (PMID:24220291)
- KLF17 might be one of the downstream signalling molecules of DJ-1. (PMID:24504364)
- The reduced expression of KLF17 protein in gastric cancer was correlated with tumor size, pN stage and lymphovascular invasion and was an independent predictor for poor survival in patients undergoing surgery for gastric cancer. (PMID:24947617)
- The reduced expression of KLF17 promoted the motility and proliferation ability of TPC1 cells by altering the expression of tight junction protein 1 and Snai1, and activating the AKT pathway by upregulating inhibitor of DNA binding 1. (PMID:25109837)
- mutant p53 enhances cancer progression by inhibiting KLF17 expression in invasive breast carcinoma cells (PMID:25111898)
- 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)
- A small subset of Myoepithelial tumors harbor FUS rearrangements, two thirds of them being associated with KLF17 fusion. (PMID:25706482)
- KLF17 empowers TGF-beta/Smad signaling by targeting Smad3-dependent pathway to suppress tumor growth and metastasis during cancer progression. (PMID:25766320)
- Tumor-suppressive p53 signaling is critical for KLF17 to inhibit cancer metastasis in Non-small Cell Lung Cancer. (PMID:25911104)
- Suggest that KLF17 inhibits esophageal carcinoma development and may serve as a potential therapeutic target. (PMID:26617836)
- Enhanced KLF17 expression sensitizes ERalpha-positive breast cancer cells to endocrine therapy.KLF17-ERalpha interaction plays a potential role in inhibition of ERalpha-dependent breast cancer progression. (PMID:27107895)
- Low Expressions of KLF17 is associated with lung adenocarcinoma. (PMID:28454121)
- The above data show that normal levels of melatonin may help in preventing breast cancer metastasis through inhibiting DJ-1/KLF17/ID-1 signaling pathway. The combination of melatonin and taxol is a potent candidate against breast cancer metastasis, better than using melatonin or taxol as a single drug (PMID:30260001)
- Results revealed that KLF17 expression was abnormally decreased in colorectal cancer (CRC) and associated with lymph node metastasis and unfavorable overall survival. Moreover, ectopic KLF17 expression suppressed CRC cell growth and invasion in vitro and in vivo. In addition, the downregulation of KLF17 was associated with the hypermethylation of the CpG nucleotides on the KLF17 promoter. (PMID:31545467)
- Overexpression of KLF17 Predicts a Favorable Prognosis in Patients with Oral Squamous Cell Carcinoma: A Retrospective Study. (PMID:32019121)
- Kruppel-like factor 17 upregulates uterine corin expression and promotes spiral artery remodeling in pregnancy. (PMID:32719113)
- Precision hyperthermia-induced miRNA-409-3p upregulation inhibits migration, invasion, and EMT of gastric cancer cells by targeting KLF17. (PMID:33667708)
- Up-regulation of KLF17 expression increases the sensitivity of gastric cancer to 5-fluorouracil. (PMID:33960231)
- KLF17 promotes human naive pluripotency but is not required for its establishment. (PMID:34661235)
- Effect of KLF17 overexpression on epithelial-mesenchymal transition of gastric cancer cells. (PMID:34738482)
- KLF17 promotes human naive pluripotency through repressing MAPK3 and ZIC2. (PMID:35391627)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | klf1 | ENSDARG00000017400 |
| danio_rerio | klf5l | ENSDARG00000018757 |
| danio_rerio | klf17 | ENSDARG00000038792 |
| danio_rerio | klf2b | ENSDARG00000040432 |
| danio_rerio | klf2a | ENSDARG00000042667 |
| danio_rerio | klf13 | ENSDARG00000061368 |
| danio_rerio | zgc:153115 | ENSDARG00000069342 |
| danio_rerio | si:ch211-117k10.3 | ENSDARG00000090914 |
| danio_rerio | sp5l | ENSDARG00000115868 |
| mus_musculus | Klf17 | ENSMUSG00000048626 |
| rattus_norvegicus | Klf17 | ENSRNOG00000019479 |
| drosophila_melanogaster | Klf15 | FBGN0025679 |
| drosophila_melanogaster | luna | FBGN0040765 |
| drosophila_melanogaster | CG42741 | FBGN0261705 |
| drosophila_melanogaster | dar1 | FBGN0263239 |
| caenorhabditis_elegans | WBGENE00018990 |
Paralogs (22): KLF6 (ENSG00000067082), KLF8 (ENSG00000102349), KLF5 (ENSG00000102554), KLF1 (ENSG00000105610), KLF3 (ENSG00000109787), KLF7 (ENSG00000118263), KLF12 (ENSG00000118922), KLF9 (ENSG00000119138), KLF2 (ENSG00000127528), KLF16 (ENSG00000129911), KLF4 (ENSG00000136826), KLF10 (ENSG00000155090), KLF15 (ENSG00000163884), SP8 (ENSG00000164651), KLF13 (ENSG00000169926), SP7 (ENSG00000170374), KLF11 (ENSG00000172059), SP6 (ENSG00000189120), SP5 (ENSG00000204335), SP9 (ENSG00000217236), KLF14 (ENSG00000266265), KLF18 (ENSG00000283039)
Protein
Protein identifiers
Krueppel-like factor 17 — Q5JT82 (reviewed: Q5JT82)
Alternative names: Zinc finger protein 393
All UniProt accessions (2): Q5JT82, A0A0U1RR65
UniProt curated annotations — full annotation on UniProt →
Function. Transcription repressor that binds to the promoter of target genes and prevents their expression. Acts as a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Specifically binds the 5’-CACCC-3’ sequence in the promoter of ID1, a key metastasis regulator in breast cancer, and repress its expression. May be a germ cell-specific transcription factor that plays important roles in spermatid differentiation and oocyte development.
Subcellular location. Nucleus.
Similarity. Belongs to the Sp1 C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_775755* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (14 total): sequence variant 4, zinc finger region 3, region of interest 3, compositionally biased region 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5JT82-F1 | 54.30 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 49 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, chr1p34, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, FOSTER_KDM1A_TARGETS_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE13522_WT_VS_IFNG_KO_SKIN_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR4795_3P, GOLDRATH_EFF_VS_MEMORY_CD8_TCELL_DN, MIR9983_3P, MIR129_5P, MIR2052, MIR7156_3P, MIR6872_3P
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (9): transcription cis-regulatory region binding (GO:0000976), 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), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 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 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLF17 | ID1 | P41134 | 771 |
| KLF17 | ID2 | Q02363 | 702 |
| KLF17 | ARFGAP2 | Q8N6H7 | 666 |
| KLF17 | TFCP2L1 | Q9NZI6 | 652 |
| KLF17 | ARGFX | A6NJG6 | 591 |
| KLF17 | DPPA5 | A6NC42 | 588 |
| KLF17 | WNT2 | P09544 | 555 |
| KLF17 | DPPA3 | Q6W0C5 | 521 |
| KLF17 | SLC5A5 | Q92911 | 495 |
| KLF17 | SUSD2 | Q9UGT4 | 480 |
| KLF17 | TP53 | P04637 | 477 |
| KLF17 | POU5F1 | P31359 | 467 |
| KLF17 | FUS | P35637 | 464 |
| KLF17 | FGF4 | P08620 | 457 |
| KLF17 | A0A0J9YW77 | A0A0J9YW77 | 457 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KLF17 | CIB3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CIB3 | KLF17 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KLF17 | COL6A1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCL24 | KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL26 | KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL27 | KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| IL1RN | KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL23A | KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL31 | KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TNFSF10 | KLF17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CIB3 | KLF17 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (3): KLF17 (Two-hybrid), KLF17 (Two-hybrid), KLF17 (Proximity Label-MS)
ESM2 similar proteins: A0A0A7EPL0, A2RV66, A4QP16, A6QPF4, C4QM85, F4JYG0, O35892, P11836, P13386, P19437, P20490, P41739, P53762, P56645, P70326, P79778, Q01362, Q148B6, Q29131, Q3C1V0, Q3C2E2, Q3SA47, Q3UNB8, Q3V3Q4, Q3YBM2, Q5I2P1, Q5JT82, Q5R8D6, Q5R8E0, Q60HE7, Q68FU0, Q6A058, Q8BVM2, Q8N1N2, Q8NDZ0, Q8QGQ8, Q8WUU8, Q920C4, Q92540, Q96HJ5
Diamond homologs: A0A0U1RQI7, C7EMF5, Q00453, Q5JT82, Q8CFA7, B5DE03, B7ZSG3, O08876, O14901, O62651, O89091, P19544, P22561, P49952, P49953, P50902, P57682, P79958, Q13118, Q13887, Q19A41, Q60980, Q8K1S5, O35738, O35819, Q60843, Q9ET58, Q9TZ64, Q9VZN4, Q9Y4X4, Q8TD94, Q14V87, Q19A40, Q65ZG6, Q13351, O08584, O15090, O35739, O43474, O62259
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
471 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:44118989:G:GG | donor_gain | 1.0000 |
| 1:44118989:GT:G | donor_loss | 1.0000 |
| 1:44130730:G:GT | donor_gain | 0.9900 |
| 1:44130731:A:T | donor_gain | 0.9900 |
| 1:44130506:TCCCA:T | acceptor_loss | 0.9800 |
| 1:44130507:CCCAG:C | acceptor_loss | 0.9800 |
| 1:44130508:CCAG:C | acceptor_loss | 0.9800 |
| 1:44130509:CAGG:C | acceptor_loss | 0.9800 |
| 1:44130510:AGGTG:A | acceptor_loss | 0.9800 |
| 1:44130511:G:GA | acceptor_loss | 0.9800 |
| 1:44130567:T:TA | acceptor_gain | 0.9800 |
| 1:44130500:T:TA | acceptor_loss | 0.9700 |
| 1:44130749:GTCCT:G | donor_gain | 0.9700 |
| 1:44130750:TCCTT:T | donor_gain | 0.9700 |
| 1:44118986:CAG:C | donor_gain | 0.9600 |
| 1:44118987:AG:A | donor_gain | 0.9600 |
| 1:44118988:GG:G | donor_gain | 0.9600 |
| 1:44129432:GCC:G | donor_gain | 0.9600 |
| 1:44130567:TGATG:T | acceptor_gain | 0.9600 |
| 1:44130723:A:T | donor_gain | 0.9600 |
| 1:44118989:G:GA | donor_gain | 0.9500 |
| 1:44118990:T:A | donor_gain | 0.9500 |
| 1:44130753:TTAG:T | donor_loss | 0.9500 |
| 1:44130754:TAGG:T | donor_loss | 0.9500 |
| 1:44130755:AG:A | donor_loss | 0.9500 |
| 1:44130756:GGTC:G | donor_loss | 0.9500 |
| 1:44130757:GT:G | donor_loss | 0.9500 |
| 1:44130758:T:G | donor_loss | 0.9500 |
| 1:44118985:CCAGG:C | donor_gain | 0.9400 |
| 1:44118986:CAGG:C | donor_gain | 0.9400 |
AlphaMissense
2548 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:44130556:T:C | F324L | 1.000 |
| 1:44130558:C:A | F324L | 1.000 |
| 1:44130558:C:G | F324L | 1.000 |
| 1:44130619:T:C | C345R | 1.000 |
| 1:44130640:T:C | F352L | 1.000 |
| 1:44130641:T:C | F352S | 1.000 |
| 1:44130642:C:A | F352L | 1.000 |
| 1:44130642:C:G | F352L | 1.000 |
| 1:44130139:T:A | C290S | 0.999 |
| 1:44130140:G:C | C290S | 0.999 |
| 1:44130151:T:G | Y294D | 0.999 |
| 1:44130170:T:C | L300P | 0.999 |
| 1:44130178:C:G | H303D | 0.999 |
| 1:44130180:C:A | H303Q | 0.999 |
| 1:44130180:C:G | H303Q | 0.999 |
| 1:44130182:A:C | Q304P | 0.999 |
| 1:44130185:G:C | R305P | 0.999 |
| 1:44130192:C:A | H307Q | 0.999 |
| 1:44130192:C:G | H307Q | 0.999 |
| 1:44130531:C:G | C315W | 0.999 |
| 1:44130545:G:A | C320Y | 0.999 |
| 1:44130546:T:G | C320W | 0.999 |
| 1:44130563:G:C | R326P | 0.999 |
| 1:44130583:C:G | H333D | 0.999 |
| 1:44130585:T:A | H333Q | 0.999 |
| 1:44130585:T:G | H333Q | 0.999 |
| 1:44130597:C:A | H337Q | 0.999 |
| 1:44130597:C:G | H337Q | 0.999 |
| 1:44130619:T:A | C345S | 0.999 |
| 1:44130620:G:C | C345S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004265 (1:44132209 G>T), RS1000011096 (1:44135182 C>A), RS1000048994 (1:44055072 C>A), RS1000051772 (1:44047096 T>G), RS1000083723 (1:44051260 T>G), RS1000126732 (1:44093639 C>A,T), RS1000236288 (1:44099073 T>A,C), RS1000242487 (1:44109204 A>G), RS1000300871 (1:44081223 A>T), RS1000413804 (1:44093345 G>A), RS1000442500 (1:44071169 C>T), RS1000472778 (1:44044465 C>A), RS1000503725 (1:44085326 G>A), RS1000556425 (1:44126842 T>C), RS1000625215 (1:44079500 A>G)
Disease associations
OMIM: gene MIM:609602 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004025_7 | Systemic juvenile idiopathic arthritis | 1.000000e-06 |
| GCST005722_1 | Milk allergy (maternal genetic effects) | 2.000000e-06 |
| GCST010002_357 | Refractive error | 3.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005939 | parental genotype effect measurement |
| EFO:0007019 | milk allergy measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| napabucasin | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| terbufos | increases methylation | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Fenfluramine | increases expression | 1 |
| Parathion | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HC80 | HEK293 eGFP-KLF17 | 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): systemic-onset juvenile idiopathic arthritis