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This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]
ZNF473 (Zinc Finger Protein 473) is a Protein Coding gene. Diseases associated with ZNF473 include Cervical Adenosquamous Carcinoma and Epithelial Recurrent Erosion Dystrophy. Among its related pathways are Gene Expression and Cleavage of Growing Transcript in the Termination Region. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF91.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0015030 | Cajal body | IDA | 16714279 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Processing of Capped Intronless Pre-mRNA | ||
2 | Cleavage of Growing Transcript in the Termination Region | ||
3 | Gene Expression |
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4 | Herpes simplex virus 1 infection | ||
5 | HIV Transcription Elongation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006369 | termination of RNA polymerase II transcription | TAS | -- |
GO:0006398 | mRNA 3'-end processing by stem-loop binding and cleavage | IDA | 16714279 |
GO:0008334 | histone mRNA metabolic process | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ZNF473 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF473 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zfp473 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Zfp473 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF473 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZNF473 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
CSA.1668 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs869025232 | Uncertain Significance: Ductal breast carcinoma | 50,046,802(+) | A/T | NONSENSE | |
rs10419876 | - | p.Ser59Gly | |||
rs10419911 | - | p.Ser74Gly | |||
rs10424809 | - | p.Thr654Ile | |||
rs10426374 | - | p.Ser662Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3622n100 | CNV | gain | 25217958 |
esv2751796 | CNV | gain | 17911159 |
esv2758766 | CNV | loss | 17122850 |
esv3644630 | CNV | gain | 21293372 |
esv3644635 | CNV | gain | 21293372 |
nsv1062974 | CNV | gain | 25217958 |
nsv1065753 | CNV | gain | 25217958 |
nsv1067191 | CNV | gain | 25217958 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv428369 | CNV | loss | 18775914 |
nsv458722 | CNV | gain | 19166990 |
nsv458723 | CNV | loss | 19166990 |
nsv469748 | CNV | gain+loss | 16826518 |
nsv579912 | CNV | gain | 21841781 |
nsv579913 | CNV | gain | 21841781 |
nsv579914 | CNV | loss | 21841781 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cervical adenosquamous carcinoma |
|
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epithelial recurrent erosion dystrophy |
|
|
retinitis pigmentosa 19 |
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