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This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
FEZF1 (FEZ Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with FEZF1 include Hypogonadotropic Hypogonadism 22 With Or Without Anosmia and Kallmann Syndrome. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is FEZF2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J122310 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 628.9 | +1.4 | 1449 | 2 | TEAD4 KDM1A POLR2A YY1 SIN3A CTCF ZNF143 RAD21 TAF1 TBP | FEZF1 FEZF1-AS1 AASS | |
GH07J122303 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 25.2 | +5.4 | 5391 | 5.1 | PRDM10 ZNF629 ZNF692 FOXA1 PRDM1 ZIC2 POLR2A PATZ1 SP1 ZNF501 | FEZF1-AS1 FEZF1 ENSG00000240499 AASS | |
GH07J122432 | Enhancer | 0.2 | FANTOM5 | 3 | -121.2 | -121227 | 0.4 | CADPS2 FEZF1 HE856241 ENSG00000240499 RNF133 | ||
GH07J122327 | Enhancer | 1.3 | VISTA UCNEbase Ensembl ENCODE | 0.4 | -17.4 | -17394 | 3.6 | KDM1A PRDM1 ZSCAN4 EZH2 FOXA2 SIN3A SP1 | ENSG00000240499 FEZF1 HE856241 RNF133 CADPS2 | |
GH07J122336 | Enhancer | 1.1 | UCNEbase Ensembl ENCODE dbSUPER | 0.3 | -25.6 | -25646 | 1.4 | POLR2A SMARCA4 EZH2 | ENSG00000240499 FEZF1 HE856241 RNF133 CADPS2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001764 | neuron migration | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0007411 | axon guidance | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FEZF1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FEZF1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FEZF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fezf1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fezf1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FEZF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FEZF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FEZF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fezf1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398172 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fezf1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | erm 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | fezf-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713972 | Benign: not provided | 122,302,075(-) | C/T | SYNONYMOUS_VARIANT | |
718873 | Likely Benign: not provided | 122,303,915(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
721996 | Likely Benign: not provided | 122,304,186(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
723308 | Likely Benign: not provided | 122,303,885(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
725249 | Likely Benign: not provided | 122,303,823(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3891198 | CNV | gain | 25118596 |
nsv5931 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypogonadotropic hypogonadism 22 with or without anosmia |
|
|
kallmann syndrome |
|
|
hypogonadotropic hypogonadism 7 with or without anosmia |
|
|
pancreatic ductal adenocarcinoma |
|
|
zinc finger protein 1 |
|
|