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This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
KLF4 (Kruppel Like Factor 4) is a Protein Coding gene. Diseases associated with KLF4 include Secretory Meningioma and Skin Squamous Cell Carcinoma. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is KLF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS, IBA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISA | -- |
GO:0000987 | proximal promoter sequence-specific DNA binding | IDA | 21539536 |
GO:0001010 | RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IEA | -- |
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 20551324 |
GO:0006351 | transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | IEA | -- |
GO:0007500 | mesodermal cell fate determination | TAS | 8940147 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLF4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KLF4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Klf4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Klf4 30 |
|
||
Dog (Canis familiaris) |
Mammalia | KLF4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KLF4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KLF4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KLF4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KLF4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | klf4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | klf4a 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9895 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | F56F11.3 32 |
|
|
|
mua-1 32 |
|
|
|||
F53F8.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.290 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720675 | Benign: not provided | 107,487,134(-) | T/C | SYNONYMOUS_VARIANT | |
725601 | Likely Benign: not provided | 107,488,934(-) | T/C | MISSENSE_VARIANT | |
726083 | Benign: not provided | 107,487,421(-) | G/A | SYNONYMOUS_VARIANT | |
734740 | Likely Benign: not provided | 107,487,703(-) | G/A | SYNONYMOUS_VARIANT | |
748147 | Likely Benign: not provided | 107,487,335(-) | G/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
secretory meningioma |
|
|
skin squamous cell carcinoma |
|
|
cerebral cavernous malformations |
|
|
germ cell and embryonal cancer |
|
|
familial adenomatous polyposis |
|