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This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]
ZNF384 (Zinc Finger Protein 384) is a Protein Coding gene. Diseases associated with ZNF384 include Ewing Sarcoma and Acute Leukemia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and SH3 domain binding. An important paralog of this gene is ZNF362.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - |
ExUns: | 13b | ^ | 14a | · | 14b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: | |||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF384 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF384 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF384 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zfp384 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Zfp384 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZNF384 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZNF384 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZNF384 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | znf384 30 |
|
||
Str.10042 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8596 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100536427 30 |
|
||
znf384l 31 |
|
OneToMany | |||
ZNF384 (2 of 3) 31 |
|
OneToMany | |||
ZNF384 (3 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG2052 32 |
|
|
|
sqz 31 32 |
|
ManyToMany | |||
rn 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | lin-29 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2761725 | CNV | gain | 21179565 |
nsv1113454 | CNV | deletion | 24896259 |
nsv832322 | CNV | loss | 17160897 |
nsv832323 | CNV | loss | 17160897 |
nsv983480 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ewing sarcoma |
|
|
acute leukemia |
|
|
pineal region germinoma |
|
|
b-cell adult acute lymphocytic leukemia |
|
|
b-lymphoblastic leukemia/lymphoma with iamp21 |
|
|