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The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
ZFPM2 (Zinc Finger Protein, FOG Family Member 2) is a Protein Coding gene. Diseases associated with ZFPM2 include 46,Xy Sex Reversal 9 and Diaphragmatic Hernia 3. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and MicroRNAs in cancer. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcription corepressor activity. An important paralog of this gene is ZFPM1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001085 | RNA polymerase II transcription factor binding | IEA,IBA | 21873635 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003713 | transcription coactivator activity | NAS | 10438528 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
GO:0001570 | vasculogenesis | IEA | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0003148 | outflow tract septum morphogenesis | IMP | 20807224 |
GO:0003221 | right ventricular cardiac muscle tissue morphogenesis | IMP | 20807224 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZFPM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZFPM2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZFPM2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZFPM2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zfpm2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Zfpm2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZFPM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZFPM2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZFPM2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | zfpm2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zfpm2a 30 31 |
|
OneToMany | |
zfpm2b 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638874 | Uncertain Significance: 46,XY sex reversal 9 | 105,803,051(+) | G/A | MISSENSE_VARIANT | |
644327 | Uncertain Significance: 46,XY sex reversal 9 | 105,801,971(+) | C/T | MISSENSE_VARIANT | |
644422 | Uncertain Significance: 46,XY sex reversal 9 | 105,801,356(+) | A/T | MISSENSE_VARIANT | |
647578 | Uncertain Significance: 46,XY sex reversal 9 | 105,802,382(+) | A/G | MISSENSE_VARIANT | |
648901 | Uncertain Significance: 46,XY sex reversal 9 | 105,802,288(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
46,xy sex reversal 9 |
|
|
diaphragmatic hernia 3 |
|
|
double outlet right ventricle |
|
|
tetralogy of fallot |
|
|
conotruncal heart malformations |
|