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The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
ZNF408 (Zinc Finger Protein 408) is a Protein Coding gene. Diseases associated with ZNF408 include Exudative Vitreoretinopathy 6 and Retinitis Pigmentosa 72. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is ZKSCAN7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 14667819 |
GO:0042802 | identical protein binding | IPI | 15231747 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IBA | -- |
GO:0005634 | nucleus | IEA,IDA | 23716654 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF408 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF408 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF408 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zfp408 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100362202 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ZNF408 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZNF408 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | znf408 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC793421 30 |
|
||
ZNF408 31 |
|
OneToOne | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7747 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835031 | Uncertain Significance: not provided | 46,701,067(+) |
T/C NM_024741.3(ZNF408):c.20T>C (p.Leu7Pro) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
836954 | Uncertain Significance: not provided | 46,704,443(+) |
A/G NM_024741.3(ZNF408):c.743A>G (p.Asp248Gly) |
MISSENSE | |
838525 | Uncertain Significance: not provided | 46,705,234(+) |
C/T NM_024741.3(ZNF408):c.1534C>T (p.Arg512Cys) |
MISSENSE | |
841370 | Uncertain Significance: not provided | 46,705,007(+) |
C/T NM_024741.3(ZNF408):c.1307C>T (p.Pro436Leu) |
MISSENSE | |
844030 | Uncertain Significance: not provided | 46,705,247(+) |
G/A NM_024741.3(ZNF408):c.1547G>A (p.Arg516Gln) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
exudative vitreoretinopathy 6 |
|
|
retinitis pigmentosa 72 |
|
|
exudative vitreoretinopathy |
|
|
retinitis pigmentosa |
|
|
vitreoretinopathy |
|
|