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The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
ZNF462 (Zinc Finger Protein 462) is a Protein Coding gene. Diseases associated with ZNF462 include Weiss-Kruszka Syndrome and Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF521.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 27705803 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mesodermal Commitment Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0010468 | regulation of gene expression | IBA | 21873635 |
GO:0043392 | negative regulation of DNA binding | IEA | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - |
ExUns: | 18 |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF462 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF462 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF462 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zfp462 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zfp462 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ZNF462 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZNF462 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZNF462 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | znf462 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | znf462 30 |
|
||
ZNF462 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7801 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | hb 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hbl-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
929764 | Likely Pathogenic: Premature ovarian failure | 106,927,427(+) |
C/G NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg) |
MISSENSE_VARIANT,INTRON | |
976789 | Pathogenic: Weiss-kruszka syndrome | 106,932,499(+) |
GGACAA/G NM_021224.6(ZNF462):c.6068_6072del (p.Asp2023fs) |
FRAMESHIFT | |
977141 | Likely Pathogenic: Metopic ridging-ptosis-facial dysmorphism syndrome | 106,972,206(+) |
AC/A NM_021224.6(ZNF462):c.6631del (p.Arg2211fs) |
FRAMESHIFT | |
977407 | Uncertain Significance: Seizures | 106,927,999(+) |
C/T NM_021224.6(ZNF462):c.4087C>T (p.Pro1363Ser) |
MISSENSE_VARIANT,INTRON | |
985184 | Pathogenic: Inborn genetic diseases | 106,935,596(+) |
AAC/A NM_021224.6(ZNF462):c.6214_6215del (p.His2072fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2669661 | CNV | deletion | 23128226 |
esv2673055 | CNV | deletion | 23128226 |
esv2738890 | CNV | deletion | 23290073 |
esv29808 | CNV | loss | 19812545 |
esv3545265 | CNV | deletion | 23714750 |
esv3621391 | CNV | loss | 21293372 |
esv3621392 | CNV | loss | 21293372 |
nsv474945 | CNV | novel sequence insertion | 20440878 |
nsv831680 | CNV | loss | 17160897 |
nsv950923 | CNV | deletion | 24416366 |
nsv968743 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
weiss-kruszka syndrome |
|
|
metopic ridging-ptosis-facial dysmorphism syndrome |
|
|
autosomal dominant non-syndromic intellectual disability |
|
|
craniosynostosis |
|
|
craniosynostosis 1 |
|
|