Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
ZNF469 (Zinc Finger Protein 469) is a Protein Coding gene. Diseases associated with ZNF469 include Brittle Cornea Syndrome 1 and Keratoconus 1.
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 | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF469 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF469 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF469 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gm22 30 31 |
|
OneToOne | |
Zfp469 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Zfp469 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ZNF469 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZNF469 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZNF469 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZNF469 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
684473 | Not Provided: Brittle cornea syndrome 1 | 88,428,738(+) | C/T | MISSENSE_VARIANT | |
684503 | Not Provided: Brittle cornea syndrome 1 | 88,433,249(+) | C/T | MISSENSE_VARIANT | |
730 | Pathogenic: Brittle cornea syndrome 1 | 88,433,496(+) | CA/C | FRAMESHIFT_VARIANT | |
808120 | Likely Benign: not provided | 88,428,361(+) | C/G | MISSENSE_VARIANT | |
808121 | Uncertain Significance: not provided | 88,428,809(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv171n21 | CNV | loss | 19592680 |
dgv5293n54 | CNV | loss | 21841781 |
esv2758669 | CNV | gain | 17122850 |
nsv1061590 | CNV | gain | 25217958 |
nsv471111 | CNV | loss | 18288195 |
nsv471112 | CNV | gain | 18288195 |
nsv528456 | CNV | loss | 19592680 |
nsv827828 | CNV | gain | 20364138 |
nsv827829 | CNV | gain | 20364138 |
nsv952070 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brittle cornea syndrome 1 |
|
|
keratoconus 1 |
|
|
brittle cornea syndrome 2 |
|
|
keratoconus |
|
|
refractive error |
|
|